| H00863 | |
| H number | H00863 |
| Name | Spondylo-megaepiphyseal-metaphyseal dysplasia |
| Description | Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait. |
| Category | Congenital malformation |
| Network | - |
| Gene | NKX3-2 [HSA:579] [KO:K09995] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | The diseases similar to spondylo-megaepiphyseal-metaphyseal dysplasia include spondylometaphyseal dysplasia (H00522), oto-spondylo-megaepiphyseal dysplasia (H00519), and cleidocranial dysplasia (H00521). |
| Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C567639 OMIM: 613330 |
| Reference | PMID:13680008 AUTHORS Agarwal PP, Srinivasan A, Sharma R, Kabra M, Gupta AK TITLE Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. JOURNAL Pediatr Radiol 33:893-6 (2003) DOI:10.1007/s00247-003-1033-3 PMID:20004766 AUTHORS Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G TITLE Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. JOURNAL Am J Hum Genet 85:916-22 (2009) DOI:10.1016/j.ajhg.2009.11.005 |