MeSH Browser

MeSH Supplementary: Microcephalic osteodysplastic primordial dwarfism, type 1
Unique ID: C537577
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537577
Entry Term(s): Brachymelic primordial dwarfism; Cephaloskeletal dysplasia; Low-birth-weight dwarfism with skeletal dysplasia; Microcephalic Osteodysplastic Primordial Dwarfism, Type I; Mopd; Mopd 1; Mopd I; Mopd1; MopdI; Osteodysplastic Primordial Dwarfism, Type I; Osteodysplastic primordial dwarfism, type 1; Taybi Linder syndrome; Taybi-Linder Syndrome
Heading Mapped to: *Dwarfism; *Fetal Growth Retardation; *Microcephaly; *Osteochondrodysplasias
Frequency: 30
Note: A severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including INTELLECTUAL DISABILITY, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood. Mutations in the RNU4ATAC gene have been identified. OMIM: 210710
Date of Entry: 2010/08/25
Revision Date: 2015/09/27

Microcephalic osteodysplastic primordial dwarfism, type 1 MeSH Supplementary Concept Data 2024