ORPHA:1861
Thoracic dysplasia-hydrocephalus syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- historical
A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thoracic dysplasia-hydrocephalus syndrome | |
| fr | Syndrome de dysplasie thoracique-hydrocéphalie | |
| de | Thoraxdysplasie-Hydrozephalus-Syndrom | |
| es | Síndrome de displasia torácica-hidrocefalia | |
| it | Sindrome da displasia toracica e idrocefalo | |
| nl | Thoracale dysplasie - hydrocefalie-syndroom | |
| pt | Síndrome de displasia torácica-hidrocefalia | |
| pl | Zespół dysplazji klatki piersiowej i wodogłowia | |
| cs | Syndrom zahrnující dysplázii hrudníku a hydrocefalus | |
| uk | Синдром грудної дисплазії-гідроцефалії | |
| zh | 胸廓发育不良-脑积水综合征 | |
| tr | Torasik displazi-hidrosefali sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273730 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010115 | E | validated | |
| MeSH | C564774 | E | validated | |
| UMLS | C1848864 | E | validated | |
| GARD | 5180 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93426Ciliopathies with major skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3295244[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3295244[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.
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HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001334 | Communicating hydrocephalus | |
| HP:0009826 | Limb undergrowth | |
| HP:0000774 | Narrow chest | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0001251 | Ataxia | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002878 | Respiratory failure | |
| HP:0001250 | Seizure | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1861
- This record as JSON: /data/d/1861.json