Freeman Sheldon Syndrome - National Organization for Rare Disorders (2023)

NORD gratefully acknowledges Craig R. Dufresne, MD, FACS, FICFS, and Mikaela I. Poling, BA, for assistance in the preparation of this report.


Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet. Diagnosis requires the presence of an exceptionally small mouth (microstomia), whistling face appearance (pursed lips), “H” or “V” shaped chin dimple and very obvious crease from the nostril to the corners of the mouth (nasolabial creases). While some include restricted movement (contractures) in the hands and feet as requirements, these are not specific findings to FSS. In FSS, normal muscle is present but is interspersed or sometimes replaced by tendon-like matter that reduces the muscles’ ability to move well and causes deformities. FSS happens with widely varying degrees of severity. Some muscles are unaffected, while others may be completely non-functional, causing affected joints, muscles of facial expression, and muscles between the ribs (intercostal muscles) to be immobile. The face muscles tend to be most severely affected, with persons having an expressionless mask-like appearance. Diagnosis before birth (with genetic testing or sonography) may be possible if a parent has FSS, but diagnosis before birth is not considered definitive. Both biologic genders and all geographic areas and ethnicities are affected equally, and there is no known link with environmental or parental factors, such as exposure to illnesses, toxins, drugs or harsh substances. FSS can be passed on from a person who has the disorder, but most persons with FSS have no family history of the syndrome. Persons with FSS have normal intelligence, but most children with FSS have developmental delays that are caused by physical deformities.


FSS is named for Mr. Ernest Arthur Freeman, an orthopedic surgeon from Wolverhampton, England, UK, and Prof. Fredrick Burian, a plastic surgeon from Prague, Czech Republic. In 1938, Mr. Freeman and Dr. John Howard Sheldon, who described a different but similar appearing condition now known as Sheldon-Hall syndrome (SHS), published the first description of FSS, which they called “cranio-carpo-tarsal dystrophy”. In 1962, Prof. Burian independently verified the existence of FSS, coining the term “whistling face syndrome” and giving the first complete description of classic FSS.

Certain problems are required to be present for diagnosis of FSS. All persons with FSS have the following problems: very small mouth (microstomia), whistling-face appearance (pursed lips), “H” or “V” shaped chin dimple and very obvious crease from the nostril to the corners of the mouth (nasolabial creases). Classically, persons also have restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.

Many additional problems have been associated with FSS, especially problems of the face, including: over-crowded teeth (dental crowding), poorly aligned teeth (class II malocclusion), very high roof of the mouth (vaulted or highly arched palate), extra distance between the nose and upper lip (long philtrum), bulging ridges above the eyes (prominent superciliary ridges or frontal bossing), very small tongue (microglossia), drooping eyelids (blepharoptosis), cross-eyed problem (strabismus), extra inner skin-fold of the eye next to the nose (epicanthal folds), down-slanting eyelid folds (palpebral fissures), very small eyelid opening (blepharophimosis), sunken appearance of eyes (enophthalmos), widely spaced eyes (ocular hypertelorism), low set and tilted ears, mild to moderate hearing impairment, under-developed chin (microgenia), under-developed (micrognathia) and recessed (retrognathia) jaw, wide nasal bridge, small nose, under-developed nostrils (hypoplastic alae nasi), long face and flat mid-face (mid-face hypoplasia). Skull bones may come together too early (craniosynostosis) and a small skull (microcephaly).

Hand or foot deformities may be present on both (bilateral) or only one (unilateral) side. Fingers (phalanges) may be tightly bent (camptodactyly) and pointed outward from the thumb (ulnar deviation or windmill vane appearance). The thumb (pollex) may be tightly bent into the palm (adducted or thumb-in-palm deformity). The wrist often has limited movement and is frequently bent up (dorsoflexed or cock-up deformity). Feet often resemble a golf club (talipes equinovarus or club foot condition) and may have a rocker bottom appearance (vertical talus), with toes (phalanges) tightly bent (camptodactyly) and turned inward (metatarsus varus). Sometimes there is overriding of fingers or toes shortly after birth that improves spontaneously or with mild therapy.

Different deformities of the back, ribs, and chest have been observed. Many persons with FSS have humpback (kyphosis), swayback (lordosis) or sideways (scoliosis) curves in the back bones. If the abnormalities in the curves of the spine and breastbone are significant, they can restrict internal organs of the chest and abdomen and cause gastrointestinal, lung, and heart problems. In people with FSS, the muscles between the ribs (intercostal muscles) often are non-functional, making breathing and coughing difficult (reduced respiratory effort and tussive ability) and rarely causing harm to the lungs (pulmonary hypertension) and heart (right heart strain and cor pulmonale). Not being able to breathe deeply and cough well also can make it difficult to recover from lower respiratory infections. When present, the combination of severely abnormal curves of the backbone and non-functional muscles between the ribs (intercostal muscles) may result in chronic lung problems (reduced intrathoracic volume, impaired thoracic cage compliance, impaired exercise tolerance, reduced ventilation of oxygen, and restrictive pulmonary disease). Notably, there is no evidence of FSS directly causing lung or heart problems. Some of the indirect or secondary lung and heart problems that persons with FSS may experience because of non-functional muscles between the ribs and possibly other areas of the chest can resolve or have improvement with exercise and medical treatment. Less frequently, some people may have deformities of the ribs and breastbone (sternum) cartilage, causing either a sunken (pectus excavatum) or jutted out (pectus carinatum) appearance of the chest. Rarely, persons may have small openings in the spinal bones (spina bifida occulta).

Persons with FSS often have a short neck that does not move well and may have extra skin, giving a “webbed” appearance (pterygium colli). Hips and knees and, less frequently, shoulders and elbows may have limited movement (contractures) and dislocations. The knee cap (patella) may repeatedly partially dislocate (habitual subluxation). Joints with limited or no movement (contractures) may have decreased or absent reflexes (deep tendon reflexes). Some patients have experienced abdominal hernias (inguinal, epigastric).

Under-development of the jaw (micrognathia) may contribute to swallowing (dysphagia) and breathing problems (lower airway obstruction), but typically, patients have a very small tongue (microglossia), preventing breathing problems caused by the tongue that happen in patients with other conditions involving under-development of the jaw. Mouth breathing is caused by very thin (hypoplastic) nasal cartilages and narrowed nasal passages (nasopharynx). Poor coughing (tussive) ability and swallowing problems (dysphagia) may put the person with FSS at greater risk for airway obstruction and inhalation (aspiration) of food, saliva or vomit into the lungs, which may cause lower respiratory infections (bronchitis and pneumonia). Mouth breathing, which causes inhalation of unconditioned air and potentially aerosol droplets from people with contagious respiratory infections, may further complicate the potential respiratory risk for patients with FSS. Upper respiratory infections may progress more often to bronchitis or pneumonia infections, as well. Mouth breathing, swallowing problems (dysphagia), and the not uncommon need for a high calorie diet can also cause persons with FSS to be more at risk for developing dental cavities (caries). Persons may be more at-risk for middle ear infections, which can lead to hearing loss. Persons with FSS may also experience sinus infections and frontal headaches more often because of deformities of the skull.

While severe swallowing problems (dysphagia) may reduce eating efficiency—slowing growth in infancy and childhood, swallowing problems (dysphagia) typically improve spontaneously with age. Rarely, dysphagia may not improve. Persons with FSS typically have difficulty creating a suction with the lips and mouth because of ineffective facial muscles. Persons with FSS are typically short and may be thin into early adulthood, while others are normal weight or overweight as adults. There are some reports of persons with FSS experiencing more chronic constipation, vomiting, and gastroesophageal reflux, suggesting that gut (visceral) muscle may be secondarily affected. A few persons with FSS seem to use energy at higher rates and require high calorie foods, but the cause is unknown.

Speech problems (dysphasia), which typically include both a nasal voice (hyponasality) and articulation problems, are caused by multiple structural and functional problems, specifically problems with regional muscles; a very small tongue (microglossia); highly arched roof of the mouth (hard palate); very thin (hypoplastic) nasal cartilages; narrowed nasal passages (nasopharynx); and under-developed facial bones (midface hypoplasia).

Except those who have had severe respiratory complications and not enough oxygen reached the brain, persons with FSS have normal intelligence. Most persons have developmental delays that are caused by physical deformities.

Because of head, neck, throat (pharynx) and mouth problems, it is challenging for healthcare providers to protect the airway of persons with FSS who are unconscious. It is also difficult for healthcare providers to access blood vessels to draw blood or give medicine or fluid. These problems seriously complicate anesthesia, sedation and surgery planning for persons with FSS.

There is no known link between FSS and environmental or parental factors, such as exposure to illnesses, toxins, drugs or harsh substances.

Though the cause remains uncertain for a small percentage of people, FSS can be caused by a change (mutation or allelic variation) in the embryonic myosin heavy chain (MYH3) gene, which is located on band 13.1 of the short arm (p) of chromosome 17 (a locus of 17p13.1). FSS is believed to impair muscle development in the embryo and disrupt muscle function throughout life by causing the energy [adenosine triphosphate (ATP)] needed for muscles to tense (muscle contraction) and relax properly to have difficulty attaching to the myosin, one of the main parts of muscles fibers. This may happen because of reduced activity of enzymes that break the ATP bonds to the myosin (ATPase) that could be caused by mechanical problems with actin, the other main part of muscle fibers. When muscles cannot function normally, deformities in the bones, joints, and other areas can result.

Most patients with FSS are born to normal healthy parents, and in this situation, FSS is not inherited but arises from a new change in the gene (new mutation). When FSS is inherited, almost all of the time one of the parents has FSS and passes on one copy of the gene to a child (autosomal dominant inheritance). In extremely rare situations, however, a parent may be healthy but have a MYH3 gene variant only in their reproductive cells (germline mosaicism). In this case, still only one copy of the changed gene is needed to cause FSS in a child.

Dominant means that only a single copy of a changed gene is necessary to cause the condition. Autosomal means the changed gene is not located on one of the gender determining chromosomes, and the risk of an affected parent of either biologic gender passing the changed gene in an autosomal dominant condition like FSS to an offspring is 50% for each pregnancy.

Except for women with FSS considering using in vetro fertilization to avoid an FSS pregnancy, determining if there is a change in the MYH3 gene or possibly another gene is not needed for diagnosis and does not affect or improve treatment. Diagnosis is based on the strict criteria of physical findings, which has strong agreement with genetic testing. While FSS severity differs greatly between individuals, each person affected has the same basic types of problems, and treatments have similar outcomes.

FSS appears to occur all ethnicities, both biologic genders and all geographic regions, evenly. FSS is an exceptionally rare disorder. It is estimated that 200-300 individuals worldwide may be affected, but the number of diagnosed and undiagnosed persons with FSS (population prevalence) remains uncertain.

Problems associated with other arthrogryposis and craniofacial disorders may resemble FSS. Generally, other disorders called distal arthrogryposis (DA) and arthrogryposis multiplex congenita (AMC), both broad groups of disorders that include hand, foot, head and face problems, may overlap with FSS. DAs and AMCs vary greatly in severity but are generally not inherited from parents. The major form of AMC is called amyoplasia. (For more information on this disorder, choose “arthrogryposis multiplex congenita” as your search term in the Rare Disease Database.)

In the past, it was believed that persons with FSS could have cognitive problems, but it is now known that there are two lethal neurologic conditions that outwardly appear very similar to FSS but are distinct from it. Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD; MIM 616266) is a distinct autosomal dominant lethal condition caused by changes in the sodium leak channel, non-selective (NALCN; MIM 611549) gene. Illum syndrome (MIM 208155) is lethal whistling face with limb deformities. These conditions are distinguished from FSS by profound and progressive neurologic motor and cognitive impairment. They also have different genetic causes than FSS.

Distal arthrogryposis type 2B or Sheldon-Hall syndrome (SHS) resembles but is not as severe as FSS. SHS includes the following: minimal if any feeding problems after birth, less severe small mouth, neck webbing (pterygium colli), and small, prominent chin. Persons with SHS also are more likely to have outwardly turned feet (equinovagus) than inwardly turned feet (equinovarus), as happens in FSS. SHS can be inherited as autosomal dominant and can be associated with gene changes on either chromosome 17 or 11. Distal arthrogryposis type 1 (DA1) is less severe than FSS and SHS but lacks skull and face (craniofacial) problems. DA1 hand and foot problems can resemble FSS-associated problems. DA1 can be passed on in an autosomal dominant pattern and can be associated with gene changes on chromosome 9p13.2-13.1. Distal arthrogryposis type 3 (DA3 or Gordon syndrome) includes the same hand and foot problems as happen in FSS, SHS, and DA1, but DA3 most resembles DA1. Persons with DA3 have other problems not present in DA1, including: gap in the roof of the mouth (cleft palate), drooping eyelid (blepharoptosis), and backbone curve problems, but these problems are less severe than in either FSS or SHS.

SHS, DA1, and DA3 can be passed on in an autosomal dominant pattern. Other disorders and conditions that may have some of the same problems that are associated with FSS but do not include joint and skull and face problems to the degree of similarity of the above syndromes include: Schwartz-Jampel syndrome, trismuspseudocamptodactyly syndrome, and multiple pterygium syndrome. Problems in Schwartz-Jampel syndrome that may resemble those observed in FSS are muscle weakness and stiffness (myotonic myopathy), which is not present in persons with FSS, and various joint, spine, and eye problems that may be similar to FSS. Persons with trismus-pseudocamptodactyly syndrome are unable to fully open their mouth and have short tendons attaching to flexing type muscles, which mimics abnormal bending of fingers (camptodactyly). Persons with trismus-pseudocamptodactyly syndrome may have some other problems that can be similar to FSS, including under-developed jaw (micrognathia), swallowing problems (dysphagia), and too much space between the nose and upper lip (long philtrum). The main problem of multiple pterygium syndrome that may be present in persons with FSS, as well is webbed-appearance (pterygium) of skin around certain joints.

FSS is diagnosed by thorough physical examination and medical history. Plastic surgeons and anesthesiologists who specialize in treating patients with skull and face problems are the best to diagnose and evaluate patients who may have FSS. The following problems must be present for diagnosis of FSS: small mouth (microstomia), whistling-face (pursed lips as in someone trying to whistle), down-slanting crease from the nostril to the corners of the mouth (nasolabial creases), and “H” or “V” shaped chin dimple. Classically, there must be two or more body areas with limited movement of joints, frequently the hands or feet and ankles, but FSS may be diagnosed without problems beyond the face. Patients who have the facial deformities plus two or more body areas with limited movement of joints are considered to have FSS type 1, classic. Patients who have only the facial deformities are considered to have FSS type 2, craniofacial. Patients who have the facial deformities plus one body areas with limited movement of joints are considered to have FSS type 3, mixed (upper or lower extremities). Patients with FSS type 2 tend to be the most mild and have the least complications, and patients with FSS type 1 or “classic” tend to be the most seriously affected and more likely to have medical complications. Patients with FSS type 3 fall between FSS types 1 and 2.

Medical imaging, muscle and nerve function tests, and breathing tests, may add more information needed for treatment but not for diagnosis. Diagnosis of FSS before birth (prenatal) may be possible if a parent has FSS, but it is not considered definitive. If in vitro fertilization is used by a woman with FSS and the gene change causing FSS is known, pre-pregnancy (before eggs are fertilized) diagnosis can be made by testing polar bodies from eggs, which have the same genetic material as the egg but do not develop.

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The underlying cause of the problems in persons with FSS is not fully understood, and treatment targets specific, functional problems. Since FSS is primarily a condition of the face and skull (craniofacial), overall care is best provided and coordinated by a craniofacial surgeon. Patients with FSS who receive overall care from a doctor in another speciality may have poorer outcomes. Doctors from other specialities may not have the training or experience to understand how the patient’s face and skull problems can affect their general health and psychosocial functioning.

Treatment includes physical, occupational, and speech therapy; and limited, specific use of surgery, especially oral-maxillofacial (dental and mouth problems) and plastic surgery (face, head, and hand problems). Surgery may be used to extend benefits gained in physical, occupational, and speech therapy. Abnormal muscle function sometimes limits surgical options and causes unfavorable surgical outcomes. It should be expected that surgeries will need to be repeated periodically because of the abnormalities of the muscle. Follow-up surgeries target the muscles to release the abnormal areas to reduce tension and allow greater movement.

To gain the greatest functional benefit and lessen psychosocial consequences, any face and skull reconstructive surgery deemed feasible should occur before early school years. Failure to operate on the face and skull early in the child’s life reduces treatment options later to improve speech, ability to breathe through the nose, access to the mouth to allow dental care, and facial appearance, as facial deformities can be a significant burden to the child throughout their life, impacting all areas of interpersonal interaction. If the eyelids cause obstruction of vision, failure to operate early can result in blindness. For patients with FSS, the ability to improve the appearance of the face is, however, limited.

Deformities of the hands, feet, and spine are best treated with aggressive physical therapy and without surgery. Braces and splints may be helpful to maintain the corrections gained by physical and occupational therapy. While physical therapy for the hands is best done soon after birth and in early childhood, it may be possible to do some corrective physical therapy into early adulthood. Generally, surgery for deformities of the feet should not be attempted, as the feet present a very poor surgical risk in most patients with FSS. Failure of surgery on the feet can result in non-functional feet or loss of one or both feet. For patients whose foot deformities cannot be corrected with physical therapy and braces, prosthetics (without need for amputation) can be used to transfer the weight-bearing to the knee and leg and allow the person to walk comfortably.

With appropriate therapy, including limited use of surgery, prognosis can be very good for most persons with FSS. Early diagnosis, aggressive physical therapy and maintaining a healthy, active lifestyle is associated with the best outcomes and minimizes the impact of physical problems on development.

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [emailprotected]

Some current clinical trials also are posted on the following page on the NORD website:

For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:

The Office of Craig R. Dufresne, MD, FACS, FICFS, is seeking participants for two studies to: (1) survey and review medical records for information about specific treatments and major problems in patients’ medical history, quality of life, and mental health issues relating to FSS; and (2) medically evaluate healthy persons and patients to compare their bodies’ functioning at rest and during exercise. These studies are each designed to provide a stronger evidence base for improving the standard of care and developing new treatments. Patients will receive any new information learned about them during the studies. Persons with Freeman-Sheldon syndrome, Sheldon-Hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3 are eligible for all studies. For more information, please contact:

Office of Craig R. Dufresne, MD, FACS, FICFS
8501 Arlington Boulevard
Suite 420
Fairfax, VA 22031
Office Telephone: 703-207-3065
Home page:
Email: [emailprotected]


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Vaitiekaitis AS, Hornstein L, Neale HW. A new surgical procedure for correction of lip deformity in cranio-carpo-tarsal dysplasia (whistling face syndrome). J Oral Surg. 1979;37(9):669-72.

Vas L, Naregal P. Anaesthetic management of a patient with Freeman Sheldon syndrome. Paediatr Anaesth. 1998;8(2):175-7.

Weinstein S, Gorlin RJ. Cranio-carop-tarsal dysplasia or the whistling face syndrome. I. Clinical considerations. Am J Dis Child. 1969;117(4):427-33.

Wenner SM, Shalvoy RM. Two-stage correction of thumb adduction contracture in Freeman-Sheldon syndrome (craniocarpotarsal dysplasia). J Hand Surg Am. 1989;14(6):937-40.

Systematic Reviews

Antley RM, Uga N, Burzynski NJ, Baum RS, Bixler D. Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser. 1975;11(5):161-8.

Poling MI, Dufresne CR, Chamberlain RL. Findings, phenotypes, diagnostic accuracy, and treatment in Freeman-Burian syndrome: a patient-level data meta-analysis of unstructured observational clinical studies. J Craniofac Surg. 2020;31(4):1063-1069.

Poling MI, Dufresne CR, McCormick RJ. Identification and recent approaches for evaluation and management of rehabilitation concerns for patients with Freeman-Burian Syndrome: principles for global treatment. J Ped Genet. 2020;09(03):158-163.

Poling MI, Dufresne CR, Portillo AL. Identification and recent approaches for evaluation, operative counseling, and management in patients with Freeman-Burian syndrome: principles for global treatment. J Craniofac Surg. 2019;30(8):2502–2508.

Poling MI, Dufresne CR. Identification and recent approaches for evaluation and management of dentofacial and otolaryngologic concerns for patients with Freeman-Burian syndrome: principles for global treatment. J Craniofac Surg. 2020;31(3):787-790.

Poling MI, Morales Corado JA, Chamberlain RL. Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis. Syst Rev. 2017;6(1):46. doi: 10.1186/s13643-017-0444-4.

(Video) NHGRI's Oral History Collection: Interview with Jay Shendure

Reviews and Studies

Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 1996;11;65(4):277-81.

Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ. Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A. 2014;164(11):2808-13.

Bell KM, Huang A, Kronert WA, Bernstein SI, Swank DM. Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome. Biophys J. 2021;120(5):844-854. doi:10.1016/j.bpj.2020.12.033

Bell KM, Kronert WA, Guo Y, Rao D, Huang A, Bernstein SI, Swank DM. The muscle mechanical basis of Freeman-Sheldon syndrome. Biophysical J. 2016;110(3):14a. doi: 10.1016/j.bpj.2015.11.134

Boehm S, Limpaphayom N, Alaee F, Sinclair MF, Dobbs MB. Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. J Bone Joint Surg Am. 2008;90(7):1501-7.

Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015;96(3):462-73.

Das S, Kumar P, Verma A, Maiti TK, Mathew SJ. Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila. Dev Biol. 2019;449(2):90-98. doi:10.1016/j.ydbio.2019.02.017

Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. Clin Orthop Relat Res. 2009;467(5):1195-200.

Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities—review and nosologic discussion. Am J Med Genet. 1982;11(2):185-239.

Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis. 2019;14(1):14. doi: 10.1186/s13023-018-0984-2.

Racca AW, Beck AE, McMillin MJ, Korte FS, Bamshad MJ, Regnier M. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Hum Mol Genet. 2015;24(12):3348-58.

Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, and Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics. 2006;117(3):754-762.

Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol. 2008;65(8):1083-90. Erratum: Arch Neurol. 2008;65(12):1654.

Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol. 2013;125(1):3-18.

Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006;38(5):561-5.

Walklate J, Vera C, Bloemink MJ, Geeves MA, Leinwand L. The most prevalent Freeman-Sheldon syndrome mutations in the embryonic myosin motor share functional defects. J Bio Chem. 2016;291(19):10318-10331.

Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg Br. 1985;67-B(1):133-137.


Poling MI, Dufresne CR. Accuracy of Facts About Freeman-Sheldon syndrome. Clin Exp Obstet Gynecol. 15 Oct 2021. [In Press]

Poling MI, Dufresne CR. Head First, Not Feet First: Freeman-Sheldon Syndrome as Primarily a Craniofacial Condition. Cleft Palate Craniofac J. 2018;55(5):787-788.

Poling MI, Dufresne CR. Revisiting the many names of Freeman-Sheldon syndrome. J Craniofac Surg. 2018;29(8):2176–2178.

Poling MI, Dufresne CR. Letter: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70). Ann Rehabil Med. 2020;44(5):409-410.

Poling MI, Dufresne CR. Letter. AANA J. 2020;88(5):54.

Clinical Practice Guidelines

Poling MI, Dufresne CR. Freeman-Burian syndrome. Anästh Intensivmed. 2019;60(1):S8-S17. doi: 10.19224/ai2019.S008


Poling MI, Dufresne CR. Anaesthesia recommendations for Freeman-Burian syndrome. OrphanAnesthesia. 27 Sept 2018. Available at: Accessed August 19, 2021.

Poling MI, Dufresne CR. The epidemiology, prevention, diagnosis, treatment, and outcomes of psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions. Available from: Accessed August 19, 2021.

Poling MI, Morales Corado JA. Findings, Phenotypes, and Outcomes in Freeman-Sheldon and Sheldon-Hall syndromes, and Distal Arthrogryposis Types 1 and 3: Protocol for Systematic Review and Patient-Level Data Meta-Analysis. Accessed August 19, 2021.

Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. MIM Entry No: 193700: 10/13/2010. URL: Accessed August 19, 2021.

(Video) Estimating Impact - How can we predict the variants most likely to have an effect...

Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. MIM Entry No: 277720: 03/03/2005. URL: Accessed August 19, 2021.

Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. MIM Entry No: 601680: 03/06/2009. URL: Accessed August 19, 2021.


How many people have Freeman-Sheldon syndrome? ›

Frequency. Freeman-Sheldon syndrome is a rare disorder. It is estimated to affect 200 to 300 individuals worldwide.

What are the signs and symptoms of Freeman-Sheldon syndrome? ›

The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis and walking difficulties. Gastroesophageal reflux has been noted during infancy, but usually improves with age.

What causes Freeman-Sheldon syndrome? ›

What causes Freeman-Sheldon syndrome? Freeman-Sheldon syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified the affected gene as the MYH3 gene, which is responsible for the movement of substances between cells during development.

What is Freeman-Sheldon syndrome ICD 10? ›

Disease name and synonyms

Freeman-Burian syndrome (FBS): MIM 193700, ICD-10 Q87. 0, ORPHA 2053; Freeman-Sheldon syndrome, craniocarpotarsal dystrophy; craniocarpotarsal dysplasia; whistling face syndrome; distal arthrogryposis type 2A.

What is the differential diagnosis for Freeman-Sheldon syndrome? ›

Differential diagnosis mainly includes other distal arthrogryposis such as digitotalar dymorphism (which lacks craniofacial features), Sheldon-Hall syndrome (clinically less severe), Gordon syndrome, trismus-pseudocamptodactyly syndrome, and autosomal dominant multiple pterygium syndrome.

What disorders change your face? ›

Other causes of abnormal facial expressions
  • Blepharospasm.
  • Brain Trauma.
  • Facial Paralysis.
  • Hemifacial Spasm.
  • Meige Syndrome.
  • Myoclonus.
  • Neuroleptic Malignant Syndrome.
  • Nonconvulsive Status Epilepticus.

What does mild marfans look like? ›

Marfan syndrome features may include: Tall and slender build. Disproportionately long arms, legs and fingers. A breastbone that protrudes outward or dips inward.

How common is Prader Willis syndrome? ›

Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people worldwide.

What does Turners syndrome look like? ›

Appearance. Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature. Girls with Turner syndrome grow more slowly than other children.

What causes chromosome deletion syndrome? ›

2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.

Is arthrogryposis genetic? ›

Most individuals do not have an associated genetic reason for arthrogryposis. In about 30 % of cases, a genetic cause can be found. This does not usually occur more than once in a family, but the risk of recurrence varies with the type of genetic disorder.

What causes Christianson syndrome? ›

Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6).

Does ICD-10 use term mental retardation? ›

The following ICD-10-CA codes were used to select and exclude ID cases: F70 = Mild mental retardation. F71 = Moderate mental retardation. F72 = Severe mental retardation.

What is the ICD-10 code for developmental disability? ›

Pervasive and specific developmental disorders ICD-10-CM Code range F80-F89. The ICD-10 code range for Pervasive and specific developmental disorders F80-F89 is medical classification list by the World Health Organization (WHO).

What does the 7th character mean in ICD-10? ›

The 7th character represents the type of encounter, or phase of treatment; this could be an initial encounter, a subsequent encounter, or a sequela (previously known as a late effect).

What is Bowen Hutterite syndrome? ›

Disease definition. A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.

How do you get Collins syndrome? ›

What Causes Treacher Collins Syndrome? Almost all children with TCS have a mutation (change) in one of three genes that control bone growth in and around the face. The mutation causes a change in a baby's growth very early in pregnancy. For a few people with TCS, the gene causing the problem is not known.

How common is Collins syndrome? ›

The condition is also called mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome. Treacher Collins syndrome happens in about 1 in 50,000 newborns worldwide.

Why does everyone look familiar? ›

The hyperfamiliarity for faces (HFF) syndrome is a disorder in which unfamiliar people or faces appear familiar. Typically occurring without concurrent psychiatric, emotional, or memory disorders, the association of a familiar feeling with novel faces is a relatively isolated symptom.

What is a gaunt face? ›

A gaunt face refers to a face that appears thin and bony. The term is usually used to describe the face of someone who looks sick, malnourished, or unhealthy. It generally isn't used to describe a naturally thin but healthy-looking face.

Why is my face suddenly changing? ›

These outward changes are caused by seismic moves happening beneath your skin to your facial bones, muscles, and fat as you grow older. Gravity and genetics dictate some of what happens, but two significant factors that speed facial aging are within your control: lifestyle and the environment.

What is the average height of someone with Marfan syndrome? ›

Interestingly, the final height of males with MFS is almost identical in different countries: 191.2±8.4 cm in France, 191.4±5.2 cm in Korea (9), and 191.3±9.0 cm (8) in the United States.

What famous people have Marfans? ›

Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.

Can you be fat with Marfan syndrome? ›

Obesity is common in adults with Marfan syndrome and is associated with an increased risk of aortic complications.

Can Prader-Willi have normal intelligence? ›

Most people with PWS have mild intellectual disabilities (mean IQ 60-65), with approximately 20% having IQ > 70 and about 22% having IQ < 50.

Does Prader-Willi syndrome come from Mom or Dad? ›

One of the chromosomes that belongs to pair number 15 is different in Prader-Willi syndrome. Around 70% of cases of Prader-Willi syndrome are the result of missing genetic information from the copy of chromosome 15 inherited from the father. This is referred to as "paternal deletion".

Can you live a normal life with Prader-Willi syndrome? ›

Most adults with Prader-Willi syndrome are not able to live fully independent lives, such as living in their own home and having a full-time job. This is because their challenging behaviour and issues with food means these environments and situations are too demanding.

Does Turner syndrome qualify for disability? ›

Turner syndrome is not considered a disability, although it can cause certain learning challenges, including with learning mathematics and with memory. Most girls and women with Turner syndrome lead normal, healthy, productive lives with proper medical care.

What triggers Turner syndrome? ›

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.

Can you live a normal life with Turner syndrome? ›

Despite these physical differences and other problems, with the right medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.

Is chromosome deletion a disability? ›

Chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability.

Can you live with a missing chromosome? ›

Yes, but there are usually associated health problems. The only case where a missing chromosome is tolerated is when an X or a Y chromosome is missing. This condition, called Turner syndrome or XO, affects about 1 out of every 2,500 females. XO is one of the most common chromosomal abnormalities.

Can missing chromosomes be replaced? ›

Chromosome transplantation can be defined as the perfect replacement of an endogenous chromosome with a homologous one, resulting in a normal diploid cell.

What drugs cause arthrogryposis? ›

Metabolic disease such as phosphofructokinase deficiency can cause arthrogryposis, and drugs taken during pregnancy can also be associated with arthrogryposis (e.g., muscle relaxants, misoprostol, cocaine, alcohol) [1].

Can someone with arthrogryposis have a baby? ›

Depending on the clinical severity, patients may have highly functioning everyday life, with appropriate orthopaedic care and support and, precluding infertility from the underlying disorder, eventually become pregnant.

Is arthrogryposis painful? ›

A literature review by Cirillo et al indicated that in patients with arthrogryposis, adults have a greater tendency to experience pain than do children, with self reports of pain being more common in individuals in whom multiple corrective procedures have been performed.

What is the treatment for Christianson syndrome? ›

These symptoms usually continue as the boys age, but epilepsy treatments (such as anti-epileptic medication) may be able to make the seizures less severe and decrease the number of seizures. Currently, there are no treatments available to fully treat boys diagnosed with CS.

How many people have Christianson syndrome? ›

Population Estimate:In the US, there are less than 1,000 with this disease. Symptoms:May start to appear as a Newborn and as an Infant.

What is the life expectancy of someone who has Angelman syndrome? ›

A person with Angelman syndrome will have a near-normal life expectancy, but they will need support throughout their life.

What are the 2 types of mental retardation? ›

The DSM-IV classifies mental retardation into four stages based on severity: mild (IQ score of 50-55 to approximately 70), moderate (IQ score of 30-35 to 50-55), severe (IQ score of 20-25 to 35-40), and profound (IQ score of less than 20-25).

What are the four levels of intellectual disability? ›

The terms mild, moderate, severe and profound may be used to describe the severity of a person's intellectual disability.

Is mental retardation considered a disability? ›

How Does an Intellectual Disability Happen? Intellectual disability—formerly known as mental retardation—can be caused by injury, disease, or a problem in the brain. For many children, the cause of their intellectual disability is unknown.

What are the 4 categories of disabilities? ›

There are many types of disabilities, but Crow (2008) divides them all into four categories: visual, auditory, mobility, and cognitive.

What are the 4 main types of developmental disorders? ›

There are four main types of developmental disorders: nervous system disorders, sensory related disorders, metabolic disorders and degenerative disorders. Many different subsets of disabilities nest under these four main groups.

What does G mean in ICD-10 coding? ›

G, subsequent encounter for closed fracture with delayed healing. H, subsequent encounter for open fracture type I or II with delayed healing. J, subsequent encounter for open fracture type IIIA, IIIB, or IIIC with delayed healing.

What are the first three digits in a diagnosis code called? ›

The first three characters of ICD-10-CM are the “category.” The category describes the general type of the injury or disease. The category is followed by a decimal point and the subcategory.

What does the 1st character in ICD-10 represent? ›

Procedures are divided into sections that identify the general type of procedure (e.g., medical and surgical, obstetrics, imaging). The first character of the procedure code always specifies the section.

How many people in the world have Beckwith Wiedemann syndrome? ›

Beckwith-Wiedemann syndrome affects 1 in 10,500 to 13,700 newborns worldwide. The condition may actually be more common than this estimate because some people with mild symptoms are never diagnosed.

How common is Frasier Syndrome? ›

Frequency. Frasier syndrome is thought to be a rare condition; approximately 50 cases have been described in the scientific literature.

How many people in the world have KBG syndrome? ›

Frequency. KBG syndrome is a rare disorder that has been reported in more than 150 individuals in the medical literature, though there are likely more who have not been recorded in the literature.

What percentage of people have Treacher Collins syndrome? ›

This condition affects an estimated 1 in 50,000 people.

Does Beckwith-Wiedemann syndrome affect intelligence? ›

They typically have normal intelligence and normal lifespans. Some of the visible, physical signs of Beckwith-Wiedemann syndrome, such as a disparity in leg length or an enlarged tongue, may require surgical correction, but most of the characteristics become less apparent with time.

What syndrome has a thick tongue? ›

Macroglossia is the medical term for an unusually large tongue. Enlargement of the tongue can cause cosmetic and functional difficulties while speaking, eating, swallowing and sleeping. It's quite uncommon and generally occurs in children.

What are the long term effects of Beckwith-Wiedemann syndrome? ›

This unusual growth, known as hemihyperplasia, usually begins to slow by age 8. BWS can also lead to an increased risk of certain childhood cancers, most commonly Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor).

How long can you live with Fraser syndrome? ›

Fraser syndrome is an autosomal recessive disorder in which the life expectancy is <1 year. The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS).

Do people with Fraser syndrome have eyes? ›

Characteristic features of this condition include eyes that are completely covered by skin and usually malformed (cryptophthalmos), fusion of the skin between the fingers and toes (cutaneous syndactyly), and abnormalities of the genitalia and the urinary tract (genitourinary anomalies).

Can you get surgery for Fraser syndrome? ›

Fraser syndrome is inherited in an autosomal recessive pattern. There is currently no cure for FS but surgery is available to correct some malformations associated with this disorder, depending on the severity of the malformations.

What syndrome has big teeth? ›

Macrodontia is a dental condition where a tooth or group of teeth are abnormally larger than average. Functional and aesthetic discrepancies may arise in affected individuals resulting in lowering the quality of life. It has been noted that macrodontia is associated with several genetic and endocrine abnormalities.

What is the rarest genetic condition? ›

Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease.

Is KBG syndrome a disability? ›

KBG syndrome is a rare genetic disorder characterized by macrodontia of upper permanent incisors, distinctive craniofacial features, skeletal findings, and developmental delay/intellectual disability with behavioral abnormalities.

What parts of the body does Treacher Collins syndrome affect? ›

Treacher Collins syndrome is a rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids. These differences often cause problems with breathing, swallowing, chewing, hearing and speech.

What famous people have Treacher Collins syndrome? ›

Jono Lancaster was born with Treacher Collins Syndrome. This rare genetic condition, which is believed to affect around one in 10,000 babies, meant that he was born with no cheekbones and hearing difficulties.

Is there a genetic test for Treacher Collins? ›

How Is Treacher Collins Syndrome Diagnosed? The way a baby's face looks at birth will cause doctors to think about TCS as the most likely diagnosis. X-ray images of the child's facial bones can identify the characteristic features of TCS. Genetic testing can confirm the diagnosis.


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