Ulna hypoplasia-intellectual disability syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare genetic multiple congenital anomalies syndrome characterized by mesomelic shortness of the forearms mainly due to bilateral symmetrical ulnar hypoplasia, bilateral clubfeet, anonychia congenita (absent toe and finger nails), limited knee and elbow movement, severe varus deformity and severe intellectual disability. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ulna hypoplasia-intellectual disability syndrome | |
| fr | Syndrome d'hypoplasie du cubitus-déficience intellectuelle | |
| de | Ulnahypoplasie-Intelligenzminderung-Syndrom | |
| es | Síndrome de hipoplasia de cúbito-discapacidad intelectual | |
| it | Sindrome ipospadia-disabilità intellettiva tipo Goldblatt | |
| nl | Hypoplasie van ulna - intellectuele achterstand-syndroom | |
| pt | Síndrome de hipoplasia do cúbito-perturbação do desenvolvimento intelectual | |
| pl | Hipoplazja kości łokciowej - niepełnosprawność intelektualna | |
| cs | Syndrom zahrnující ulnární hypoplázii a mentální retardaci | |
| uk | Синдром гіпоплазії ліктьової кістки - інтелектуальної недостатності | |
| zh | 尺骨发育不全-智力障碍综合征 | |
| tr | Ulna hipoplazisi-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276821 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0010165 | E | validated | |
| MeSH | C536934 | E | validated | |
| UMLS | C4304398 | E | validated | |
| GARD | 5398 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7625433[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7625433[PMID] |
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
20 annotations · validated 2017-07-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0001802 | Absent toenail | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0003042 | Elbow dislocation | |
| HP:0001263 | Global developmental delay | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0000239 | Large fontanelles | |
| HP:0003027 | Mesomelia | |
| HP:0001840 | Metatarsus adductus | |
| HP:0002983 | Micromelia | |
| HP:0003510 | Severe short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0001883 | Talipes | |
| HP:0009465 | Ulnar deviation of finger | |
| Frequent (79-30%) | ||
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2249
- This record as JSON: /data/d/2249.json