DISEASE: Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
Entry
H00991 Disease
Name
Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
Description
Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is an autosomal recessive condition characterized by severe intrauterine and postnatal growth failure, microcephaly, and disproportionate short stature due to short limbs. Characteristic skeletal abnormalities are seen.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
MOPD II is distinct from Seckel syndrome (H00992) by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation.
See also H00993 Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I).
Willems M, Genevieve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Heron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V
Title
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, Scarano G
Title
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.
