Apert syndrome

A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.

Short upper lip

Decreased width of the upper lip.


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PMID (PMCID)
2315226
 MALE Infant, Newborn
Acrocephalospondylosyndactyly--a possible new syndrome: analysis of the vertebral and intervertebral components.
Wells TR, Falk RE, Senac MO, Vachon L.
Pediatr Pathol. 1990;10(1-2):117-31.
Apert-Crouzon syndrome (formerly ACS type 2; 10130) is now considered a subset of autosomal dominant Apert acrocephalosyndactyly type 1 (10120), with features of craniosynostoisis, syndactyly of all extremities, maxillary hypoplasia, "parrot-beaked" nose, hypertelorism, exophthalmos, external strabismus, and short upper lip.