Acrocraniofacial dysostosis

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Acrocraniofacial dysostosis

Synonyms: Kaplan-Plauchu-Fitch syndrome

A very rare acrofacialdyosotosis characterized by short stature acrocephaly ocular hypertelorism ptosis of eyelids ocular proptosis downslanting palpebral fissures high nasal bridge anteverted nostrils short philtrum cleft palate micrognathia abnormal external ears preauricular pits mixed hearing loss bulbous digits metatarsus varus pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.

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 http: // Data version September 2023.

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Acrocraniofacial dysostosis?

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