Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short ulna-dysmorphism-hypotonia-intellectual disability syndrome | |
| fr | Syndrome d'ulna courte-dysmorphie-hypotonie-déficience intellectuelle | Syndrome de cubitus court-dysmorphie-hypotonie-déficience intellectuelle |
| de | Kurze Ulna-dysmorphe Gesichtszüge-Hypotonie-Intelligenzminderung-Syndrom | |
| es | Síndrome de cúbito corto-dismorfia-hipotonía-discapacidad intelectual | |
| it | Sindrome ulna corta, dismorfismi, ipotonia e disabilità intellettiva | |
| nl | Korte ulna - dysmorfie - hypotonie - intellectuele achterstand-syndroom | |
| pt | Síndrome de encurtamento da ulna-dismorfismo-hipotonia-perturbação do desenvolvimento intelectual | |
| pl | Zespół krótka kość łokciowa - dysmorfia - hipotonia - niepełnosprawność intelektualna | |
| cs | Syndrom zahrnující krátkou ulnu, dysmorfismus, hypotonii a mentální retardaci | |
| uk | Синдром короткої ліктьової кістки-дисморфізму-гіпотонії-інтелектуальної недостатності | |
| zh | 短尺骨-先天性畸形-肌张力减退-智力障碍综合征 | |
| tr | Kısa ulna-dismorfizm-hipotoni-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615162 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014067 | E | validated | |
| UMLS | C4750957 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 4 cases | Worldwide | Case(s) | Validated | 20950399[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
25 annotations · validated 2019-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0030084 | Clinodactyly | |
| HP:0004325 | Decreased body weight | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0005469 | Flat occiput | |
| HP:0001263 | Global developmental delay | |
| HP:0001007 | Hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001252 | Hypotonia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0000664 | Synophrys | |
| HP:0009928 | Thick nasal alae | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0000337 | Broad forehead | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
Annotation source: 20950399[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357175
- This record as JSON: /data/d/357175.json