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

Micrognathia

Developmental hypoplasia of the mandible.


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(per page)
PMID (PMCID)
2013738
MIXED_SAMPLE Adult
Sleep apnoea syndrome associated with maxillofacial abnormalities.
Colmenero C, Esteban R, Albarino AR, Colmenero B.
J Laryngol Otol. 1991;105(2):94-100.
They consisted of two cases with TMJ ankylosis with micrognathia, one case with Treacher Collins Syndrome, and one case with the Long Face Syndrome.