| H00991 | |
| H number | H00991 |
| 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 |
| Network | - |
| Gene | PCNT [HSA:5116] [KO:K16481] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | 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). |
| Other DBs | ICD-11: LD20.2 ICD-10: Q87.1 MeSH: C565898 OMIM: 210720 |
| Reference | PMID:15368497 AUTHORS Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI TITLE Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. JOURNAL Am J Med Genet A 130A:55-72 (2004) DOI:10.1002/ajmg.a.30203 PMID:9800908 AUTHORS Majewski F, Goecke TO TITLE Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. JOURNAL Am J Med Genet 80:25-31 (1998) DOI:10.1002/(SICI)1096-8628(19981102)80:1<25::AID-AJMG5>3.0.CO;2-0 PMID:19643772 AUTHORS 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. JOURNAL J Med Genet 47:797-802 (2010) DOI:10.1136/jmg.2009.067298 PMID:19839044 AUTHORS 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. JOURNAL Am J Med Genet A 149A:2452-6 (2009) DOI:10.1002/ajmg.a.33035 |