Rhizomelic syndrome, Urbach type
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies including short stature, dislocated hips and bifid distal phalanx of the thumb. Craniofacial features include microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia and short neck. Pulmonary stenosis, delayed psychomotor development and mild flexion contractures of the elbows have also been reported. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rhizomelic syndrome, Urbach type | |
| fr | Syndrome rhizomélique type Urbach | |
| de | Rhizomeles Syndrom Typ Urbach | |
| es | Síndrome rizomélico tipo Urbach | |
| it | Sindrome rizomelica, tipo Urbach | |
| nl | Rhizomeel syndroom, Urbach-type | |
| pt | Síndrome rizomélico, tipo Urbach | |
| pl | Zespół rizomeliczny, typu Urbacha | |
| cs | Rhizomelický syndrom, Urbachův typ | |
| uk | Ризомелічний синдром, тип Урбаха | |
| zh | Rhizomelic综合征, Urbach亚型 | |
| tr | Rizomelik sendrom, Urbach tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268250 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | attributed | validated |
| MONDO | 0009996 | E | validated | |
| MeSH | C537611 | E | validated | |
| UMLS | C4749613 | E | validated | |
| GARD | 4705 | 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:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 3 cases | Worldwide | Case(s) | Validated | 3948431[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3591839[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0011362 | Abnormal hair quantity | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0002815 | Abnormality of the knee | |
| HP:0000157 | Abnormality of the tongue | |
| HP:0001061 | Acne | |
| HP:0001156 | Brachydactyly | |
| HP:0100543 | Cognitive impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002827 | Hip dislocation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0008905 | Rhizomelia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0000260 | Wide anterior fontanel | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000218 | High palate | |
| HP:0002808 | Kyphosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3098
- This record as JSON: /data/d/3098.json