Yunis-Varon syndrome

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Yunis-Varon syndrome

Synonyms: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome

A rare genetic multiple congenital malformation syndrome characterized by cleidocranial dysplasia (wide fontanelles calvaria dysostosis absent or hypoplastic clavicles) absent thumbs and halluces hypoplastic distal and medial phalanges of fingers pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair protruding eyes low-set ears anteverted nares midfacial hypoplasia tented upper lip high arched palate and micrognathia. Brain malformations are frequently associated. From birth affected individuals tend to be significantly hypotonic and present with global developmental delay and respiratory feeding and swallowing difficulties.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Yunis-Varon syndrome?

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