| H00993 | |
| H number | H00993 |
| Name | Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I); Taybi-Linder syndrome |
| Description | Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones with enlarged metaphyses. Malformations of the central nervous system have been reported such as partial agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis. |
| Category | Congenital malformation |
| Network | - |
| Gene | RNU4ATAC [HSA:100151683] [KO:K26388] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H00991 Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II). |
| Other DBs | ICD-11: LD20.2 ICD-10: Q87.1 MeSH: C537577 OMIM: 210710 |
| Reference | PMID:21474761 AUTHORS Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL TITLE Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. JOURNAL Science 332:240-3 (2011) DOI:10.1126/science.1202205 PMID:9800907 AUTHORS Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N TITLE Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. JOURNAL Am J Med Genet 80:16-24 (1998) DOI:10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5 PMID:21990275 AUTHORS Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N TITLE A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. JOURNAL Am J Med Genet A 155A:2885-96 (2011) DOI:10.1002/ajmg.a.34299 PMID:15372530 AUTHORS Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V TITLE Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. JOURNAL Am J Med Genet A 130A:181-90 (2004) DOI:10.1002/ajmg.a.30079 |