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Ectrodactyly-cleft lip-palate syndrome [Supplementary Concept]

An autosomal dominant hereditary condition characterized by facial malformations such as cleft lip and palate, malformed or small ears and hearing loss, eye abnormalities and photophobia, tooth agenesis and microdontia, SYNDACTYLY; and genitourinary abnormalities. It is associated with chromosomal rearrangements in the 7q11.2-q21.3 region of chromosome 7. OMIM: 129900

Date introduced: August 25, 2010

MeSH Unique ID: C536189

Heading Mapped to:

Entry Terms:

  • Cleft lip-cleft palate-lobster claw deformity syndrome
  • Rudiger syndrome 1
  • Walker-Clodius syndrome
  • EEC syndrome
  • Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome

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