Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

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Synonyms: FACES syndrome | Friedman-Goodman syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis xanthelasma anterverted nostrils bifid nasal tip short palate) severe muscle wasting and cachexia retinitis pigmentosa numerous lentigines and café-au-lait spots as well as mild soft tissue syndactyly. Additional features include nasal speech chest asymmetry pectus excavatum genu varum pes planus and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.

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 June 2024

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