Oculoosteocutaneous syndrome

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Oculoosteocutaneous syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals congenital anodontia sparse hair dyspigmentation of the skin hypoplastic nipples and underdeveloped external genitals in females and multiple ocular abnormalities (such as distichiasis strabismus nystagmus lenticular opacities and severe myopia among others). Dysmorphic craniofacial features include brachycephaly downslanting palpebral fissures broad nasal root low-set ears and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.

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://www.orphadata.org. Data version December 2023

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Oculoosteocutaneous syndrome?

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