ORPHA:63446
Acrocapitofemoral dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrocapitofemoral dysplasia | |
| fr | Dysplasie acro-capito-fémorale | |
| de | Dysplasie, akro-capito-femorale | |
| es | Displasia acrocapitofemoral | |
| it | Displasia acro-capito-femorale | |
| nl | Acro-capito-femorale dysplasie | |
| pt | Displasia acrocapitofemoral | |
| pl | Dysplazja kończyn i głowy kości udowej | |
| cs | Akrokapitofemorální dysplázie | |
| uk | Акрокапітофеморальна дисплазія | |
| zh | 锥形股骨骨骺发育不良 | |
| tr | Akrokapitofemoral displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607778 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0011907 | E | validated | |
| MeSH | C564334 | E | validated | |
| UMLS | C1843096 | E | validated | |
| GARD | 10605 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IHH | Disease-causing germline mutation(s) in | Assessed | HGNC:5956 | ENSG00000163501 | 600726 | 2q35 | Indian hedgehog signaling molecule | 12632327[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003367 | Abnormal femoral neck morphology | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0002812 | Coxa vara | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002983 | Micromelia | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0001821 | Broad nail | |
| HP:0006059 | Cone-shaped metacarpal epiphyses | |
| HP:0002869 | Flared iliac wings | |
| HP:0002970 | Genu varum | |
| HP:0003307 | Hyperlordosis | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0001792 | Small nail | |
| Occasional (29-5%) | ||
| HP:0000256 | Macrocephaly | |
| HP:0000774 | Narrow chest | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| HP:0010306 | Short thorax | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 12624140[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/63446
- This record as JSON: /data/d/63446.json