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Ablepharon macrostomia syndrome

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Description

Ablepharon-macrostomia syndrome is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

1

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Genes

External Links

  • OMIM

    200110

  • Orphanet

    920

  • HPO
  • Medgen

    C1860224

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