MeSH Browser

MeSH Supplementary: Growth mental deficiency syndrome of Myhre
Unique ID: C537620
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537620
Entry Term(s): Growth-mental deficiency syndrome of Myhre; Laps Syndrome; Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature; Myhre syndrome
Heading Mapped to: *Cryptorchidism; *Growth Disorders; *Hand Deformities, Congenital; *Intellectual Disability; *Facies
Frequency: 44
Note: 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
Source: J Med Genet. 2003; 40(7):546-51
Date of Entry: 2010/08/25
Revision Date: 2015/11/10

Growth mental deficiency syndrome of Myhre MeSH Supplementary Concept Data 2024