Acrofacial dysostosis, Rodríguez type

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Acrofacial dysostosis, Rodríguez type

A rare severe multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia upper limb phocomelia with olygodactyly absent fibula and a number of additional skeletal (hypoplastic scapula and ischii 11 ribs clubfeet) facial (hypertelorism hypoplastic supraorbital ridges wide nasal bridge microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly hypolobulated lungs and congenital cardiac defects) which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.

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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Acrofacial dysostosis, Rodríguez type?

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