Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Synonyms: FACES syndrome | Friedman-Goodman syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is 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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.