Angel-shaped phalango-epiphyseal dysplasia
Synonyms: ASPED
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Angel-shaped phalango-epiphyseal dysplasia | ASPED |
| fr | Dysplasie phalango-épiphysaire en ailes d'anges | |
| de | Dysplasie, engelförmige phalango-epiphysäre | ASPED (Angel-shaped phalango-epiphyseal dysplasia) |
| es | Displasia epifisiaria-falángica en forma de ángel | = en |
| it | Displasia ad ali d'angelo delle epifisi falangeali | |
| nl | Engelvormige falango-epifysaire dysplasie | = en |
| pt | Falanges em forma de anjo - displasia epifisária | = en |
| pl | Dysplazja paliczków w kształcie aniołów i nasad kości | = en |
| cs | Falangoepifyzární dysplázie tvaru anděla | = en |
| uk | Янголоподібна фаланго-епіфізарна дисплазія | = en |
| zh | 天使形指（趾）骨骨骺发育不良 | = en |
| tr | Melek şekilli falango-epifizyal displazisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105835 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0007114 | E | validated | |
| MeSH | C536361 | E | validated | |
| UMLS | C1739384 | E | validated | |
| GARD | 671 | E | validated | |
| MedDRA | 10066017 | 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:93436Acromelic 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 | 15173244[PMID]_22828428[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 15173244[PMID] | |
| 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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0010034 | Short 1st metacarpal | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| Frequent (79-30%) | ||
| HP:0000684 | Delayed eruption of teeth | |
| HP:0001385 | Hip dysplasia | |
| HP:0008843 | Hip osteoarthritis | |
| HP:0000668 | Hypodontia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001382 | Joint hypermobility | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/63442
- This record as JSON: /data/d/63442.json