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Yunis–Varon syndrome

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Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia, absent thumbs and distal aphalangia

Other Names

Cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia; Yunis-Varón syndrome; Yunis Varon syndrome

Clinical features

Yunis-Varon syndrome is a rare condition that affects many different parts of the body.

Signs and symptoms

Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability.[1][2] Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and is inherited in an autosomal recessive manner.

80%-99% of people have these symptoms

Aplasia of the distal phalanges of the hand Aplasia of the distal phalanx of the hallux Short proximal phalanx of hallux

30%-79% of people have these symptoms Abnormal parietal bone morphology Abnormal shape of pelvis bone

Genetics

This syndrome is inherited in an autosomal recessive manner.[1][2]

Diagnosis

Treatment

Early intervention is considered important. For infants, breathing and feeding difficulties, are monitored. Therapies used are "symptomatic and supportive.

Epidemiology

YVS has been described relatively recently in the 1980s and since then less than 15 cases have been reported around the world. Many of the infants did not survive beyond one year of age.[3][2]


NIH genetic and rare disease info

Yunis–Varon syndrome is a rare disease.

Portions of content adapted from Wikipedias article on Yunis–Varon syndrome licensed under GNU FDL.

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