Omodysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Omodysplasia | |
| fr | Omodysplasie | |
| de | Omodysplasie | |
| es | Omodisplasia | |
| it | Omodisplasia | |
| nl | Omodysplasie | |
| pt | Omodisplasia | |
| pl | Omodysplazja | |
| cs | Omodysplázie | |
| uk | Омодисплазія | |
| zh | 肩骨发育不良 | |
| tr | Omodisplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164745 | BTNT | validated | |
| OMIM | 258315 | BTNT | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0017136 | E | validated | |
| UMLS | C4510897 | 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 (1):
- ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GPC6 | ORPHA:93329Autosomal recessive omodysplasia | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4454 | ENSG00000183098 | 604404 | 13q31.3-q32.1 | glypican 6 | 19481194[PMID] |
| FZD2 | ORPHA:93328Autosomal dominant omodysplasia | Disease-causing germline mutation(s) in | Assessed | HGNC:4040 | ENSG00000180340 | 600667 | 17q21.31 | frizzled class receptor 2 | 25759469[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2733
- This record as JSON: /data/d/2733.json