ORPHA:969
Acromicric dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acromicric dysplasia | |
| fr | Dysplasie acromicrique | |
| de | Dysplasie, akromikrische | |
| es | Displasia acromícrica | |
| it | Displasia acromicrica | |
| nl | Acromicrische dysplasie | |
| pt | Displasia acromícrica | |
| pl | Dysplazja | |
| cs | Akromikrická dysplázie | |
| uk | Акромікрична дисплазія | |
| zh | 肢端发育不良 | |
| tr | Akromikrik displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102370 | E | validated | |
| ICD-10 | Q77.8 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0007055 | E | validated | |
| MeSH | C535662 | E | validated | |
| UMLS | C0265287 | E | validated | |
| GARD | 7 | E | validated | |
| MedDRA | 10083854 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:2569Moore-Federman syndrome moved to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3603 | ENSG00000166147 | 134797 | 15q21.1 | fibrillin 1 | 21683322[PMID] |
| LTBP3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6716 | ENSG00000168056 | 602090 | 11q13.1 | latent transforming growth factor beta binding protein 3 | 27068007[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
6
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0001156 | Brachydactyly | |
| HP:0000527 | Long eyelashes | |
| HP:0000343 | Long philtrum | |
| HP:0000311 | Round face | |
| HP:0003510 | Severe short stature | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0200055 | Small hand | |
| Frequent (79-30%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0000160 | Narrow mouth | |
| HP:0000179 | Thick lower lip vermilion | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005900 | Fifth metacarpal with ulnar notch | |
| HP:0001609 | Hoarse voice | |
| HP:0001387 | Joint stiffness | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0010049 | Short metacarpal | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/969
- This record as JSON: /data/d/969.json