Acromesomelic dysplasia, Grebe type
Synonyms: Chondrodysplasia, Grebe type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acromesomelic dysplasia, Grebe type | Chondrodysplasia, Grebe type |
| fr | Dysplasie acromésomélique type Grebe | Chondrodysplasie type Grebe |
| de | Dysplasie, akromesomele, Typ Grebe | Chondrodysplasie Typ Grebe |
| es | Displasia acromesomélica tipo Grebe | Condrodisplasia tipo Grebe |
| it | Displasia acromesomelica, tipo Grebe | Condrodisplasia, tipo Grebe |
| nl | Acromesomele dysplasie, Grebe-type | Chondrodysplasie, Grebe-type |
| pt | Displasia acromesomélica, tipo Grebe | Condrodisplasia, tipo Grebe |
| pl | Dysplazja akromezomeliczna typu Grebe | Chondrodysplazja, typu Grebe |
| cs | Akromesomelická dysplázie typu Grebe | Chondrodysplázie typu Grebe |
| uk | Акромезотеліальна дисплазія, тип Гребе | Хондродисплазія, тип Гребе |
| zh | 肢端肢中发育不全，Grebe型 | 软骨发育不全Grebe型 |
| tr | Akromezomelik displazi, Grebe tipi | Kondrodisplazi, Grebe tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200700 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.9 | NTBT | index | validated |
| MONDO | 0008703 | E | validated | |
| MONDO | 8703 | E | validated | |
| MeSH | C537915 | E | validated | |
| UMLS | C0265260 | E | validated | |
| GARD | 1300 | 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:93437Acromesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMPR1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1077 | ENSG00000138696 | 603248 | 4q22.3 | bone morphogenetic protein receptor type 1B | 24129431[PMID] |
| GDF5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100387 | Aplasia of the middle phalanges of the toes | |
| HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001156 | Brachydactyly | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0001387 | Joint stiffness | |
| HP:0002983 | Micromelia | |
| HP:0100242 | Sarcoma | |
| HP:0001773 | Short foot | |
| HP:0001831 | Short toe | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0008368 | Tarsal synostosis | |
| Frequent (79-30%) | ||
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0005736 | Short tibia | |
| Occasional (29-5%) | ||
| HP:0001522 | Death in infancy | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2098
- This record as JSON: /data/d/2098.json