Tetramelic monodactyly
historical
Synonyms: Sommer-Hines syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- historical
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetramelic monodactyly | Sommer-Hines syndrome |
| fr | Monodactylie tétramélique | Syndrome de Sommer-Hines |
| de | Monodaktylie, tetramelische | Sommer-Hines-Syndrom |
| es | Monodactilia tetramélica | Síndrome de Sommer-Hines |
| it | Monodattilia tetramelica | Sindrome di Sommer-Hines |
| nl | Tetramelische monodactylie | Syndroom van Sommer-Hines |
| pt | Monodactilia tetramélica | Síndrome Sommer-Hines |
| pl | Monodaktylia tetrameliczna | Zespół Sommera i Hinesa |
| cs | Tetramelická monodaktylie | Sommerové-Hinesové syndrom · Sommer-Hinesové syndrom |
| uk | Тетрамелічна монодактилія | Синдром Зоммера-Хайнса |
| zh | 四肢单指畸形 | Sommer-Hines综合征 |
| tr | Tetramelik monodaktili | Sommer-Hines sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187510 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0008544 | E | validated | |
| MeSH | C566066 | E | validated | |
| UMLS | C1861233 | E | validated | |
| GARD | 3707 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1308366[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
2 annotations · validated 2017-09-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012165 | Oligodactyly | |
| HP:0001171 | Split hand | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2564
- This record as JSON: /data/d/2564.json