Ablepharon macrostomy syndromeQ18.8

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

AMS

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DefinitionThis section has been translated automatically.

Very rare, severely disfiguring syndrome with absence of eyelids, eyebrows, eyelashes and auricular, oral and genital malformations.

EtiopathogenesisThis section has been translated automatically.

Unsolved. Possibly heterogeneous clinical picture. Distinction from individual descriptions e.g. with pronounced hypertrichosis unclear.

Clinical featuresThis section has been translated automatically.

Microstomy; Ablepharon; absence of eyebrows; strabismus; hypertelorism; cutis laxa; ichthyosiform lesions; auricular dysplasia; syndactylia.

LiteratureThis section has been translated automatically.

  1. McCarthy GT, West CM (1977) Ablepharon macrostomia syndrome. Develop Med Child Neurol 19: 659-672
  2. Stevens CA, Sargent LA (2002) Ablepharon-macrostomia syndrome. At J Med Genet 107: 30-37

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer