MeSH Browser

MeSH Supplementary: Meier-Gorlin syndrome
Unique ID: C538012
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538012
Entry Term(s): Ear, patella, short stature syndrome; Microtia, absent patellae, micrognathia syndrome
Heading Mapped to: *Growth Disorders; *Micrognathism; Patella / abnormalities; *Congenital Microtia
Frequency: 41
Note: A rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, MICROCEPHALY, bilateral microtia, and aplasia or hypoplasia of the patellae. DWARFISM is the most common feature and the others occur with less frequency; affected individuals usually have normal intellect. Mutations in the ORC1 gene have been identified. OMIM: 601902
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Meier-Gorlin syndrome MeSH Supplementary Concept Data 2024