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Growth mental deficiency syndrome of Myhre [Supplementary Concept]

A rare hereditary autosomal dominant disorder characterized by intellectual disability and facial abnormalities that include MICROCEPHALY, midface hypoplasia, PROGNATHISM, and BLEPHAROPHIMOSIS. Skeletal anomalies include short stature, square body shape, broad ribs, iliac hypoplasia, BRACHYDACTYLY, flattened vertebrae, and thickened CALVARIA. Other features, such as congenital heart disease, may also occur. All reported cases have been sporadic. Mutations in the SMAD4 gene have been identified. OMIM: 139210

Date introduced: August 25, 2010

MeSH Unique ID: C537620

Heading Mapped to:

Entry Terms:

  • Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature
  • Laps Syndrome
  • Myhre syndrome
  • Growth-mental deficiency syndrome of Myhre

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