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Meier-Gorlin syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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