| H00980 | |
| H number | H00980 |
| Name | Nevo syndrome |
| Description | Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. |
| Category | Congenital malformation |
| Network | - |
| Gene | PLOD [HSA:5351] [KO:K00473] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2C MeSH: C536113 OMIM: 225400 |
| Reference | PMID:15666309 AUTHORS Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B TITLE Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). JOURNAL Am J Med Genet A 133A:158-64 (2005) DOI:10.1002/ajmg.a.30529 PMID:8574422 AUTHORS Hilderink BG, Brunner HG TITLE Nevo syndrome. JOURNAL Clin Dysmorphol 4:319-23 (1995) DOI:10.1097/00019605-199510000-00007 |