Acromesomelic dysplasia, Hunter-Thompson type
Synonyms: Acromesomelic dwarfism
- 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 (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe 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, Hunter-Thompson type | Acromesomelic dwarfism |
| fr | Dysplasie acromésomélique type Hunter-Thompson | Nanisme acromésomélique |
| de | Dysplasie, akromesomele, Typ Hunter-Thompson | Kleinwuchs, akromesomeler |
| es | Displasia acromesomélica tipo Hunter-Thompson | Enanismo acromesomélico |
| it | Displasia acromesomelica, tipo Hunter-Thompson | Nanismo acromesomelico |
| nl | Acromesomele dysplasie, Hunter-Thomson-type | Acromesomele dwerggroei |
| pt | Displasia acromesomélica, tipo Hunter-Thompson | |
| pl | Dysplazja akromezomeliczna typu Huntera i Thomsona | Karłowatość akromezomeliczna |
| cs | Akromegalická dysplázie, Hunterův-Thompsonův typ | Akromezomelické trpaslictví · Akromegalická dysplázie, Hunter-Thompsonův typ |
| uk | Акромезотеліальна дисплазія, тип Хантера-Томпсона | Акромезомелічна карликовість |
| zh | 肢端肢中发育不良，Hunter-Thompson型 | 肢端肢中性侏儒症 |
| tr | Akromezomelik displazi, Hunter-Thompson tipi | Akromezomelik cücelik |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201250 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.9 | NTBT | index | validated |
| MONDO | 0008717 | E | validated | |
| UMLS | C2930970 | E | validated | |
| GARD | 506 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDF5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 | 8589725[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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:0002167 | Abnormality of speech or vocalization | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0003086 | Acromesomelia | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0003042 | Elbow dislocation | |
| HP:0008890 | Severe short-limb dwarfism | |
| HP:0009778 | Short thumb | |
| HP:0008368 | Tarsal synostosis | |
| Frequent (79-30%) | ||
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0006014 | Abnormally shaped carpal bones | |
| HP:0100543 | Cognitive impairment | |
| HP:0006011 | Cuboidal metacarpal | |
| HP:0002827 | Hip dislocation | |
| HP:0001387 | Joint stiffness | |
| HP:0002999 | Patellar dislocation | |
| HP:0002650 | Scoliosis | |
| HP:0010049 | Short metacarpal | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/968
- This record as JSON: /data/d/968.json