MeSH Browser

MeSH Supplementary: Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Unique ID: C565898
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C565898
Entry Term(s): MOPD II; Majewski Osteodysplastic Primordial Dwarfism Type II; Microcephalic Osteodysplastic Primordial Dwarfism Type II; Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities; Microcephalic osteodysplastic primordial dwarfism, type 2; Mopd2; MopdII; Osteodysplastic Primordial Dwarfism Type Ii; Osteodysplastic Primordial Dwarfism, Type II; Osteodysplastic primordial dwarfism, type 2
Heading Mapped to: *Dwarfism; *Fetal Growth Retardation; *Microcephaly; *Osteochondrodysplasias
Frequency: 33
Note: A hereditary autosomal recessive disorder characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (OMIM: 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild INTELLECTUAL DISABILITY. Mutations in the PCNT gene have been identified. OMIM: 210720
Date of Entry: 2012/11/05
Revision Date: 2015/09/27

Microcephalic Osteodysplastic Primordial Dwarfism, Type II MeSH Supplementary Concept Data 2024