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Microcephalic Osteodysplastic Primordial Dwarfism, Type II MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
*Dwarfism
*Fetal Growth Retardation
*Microcephaly
*Osteochondrodysplasias
Frequency
31
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 Preferred
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities Related
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