Emery-Nelson syndrome
Synonyms: Hand and foot deformity-flat facies syndrome
A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead depressed nasal bridge long philtrum flat malar region high arched palate) short stature and deformities of the hands and feet (small hands/feet flexion contractures of the first three metacarpophalangeal joints extension contractures of the thumbs at the interphalangeal joints clawed toes mild pes cavus). Additional features include neonatal hypotonia thin and shiny skin of the hands/feet ridged nails dry and coarse hair mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.
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 April 2024
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