Cataract-deafness-hypogonadism syndrome
Synonyms: Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cataract-deafness-hypogonadism syndrome | Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome |
| fr | Syndrome de cataracte-surdité-hypogonadisme | Syndrome de Schaap-Taylor-Baraitser |
| de | Katarakt-Schwerhörigkeit-Hypogonadismus-Syndrom | Schaap-Taylor-Baraitser-Syndrom |
| es | Síndrome de catarata-sordera-hipogonadismo | Síndrome de Schaap Taylor Baraitser · Síndrome de catarata-hipoacusia-hipogonadismo |
| it | Cataratta - sordità - ipogonadismo | Sindrome di Schaap-Taylor-Baraitser |
| nl | Cataract - doofheid - hypogonadisme-syndroom | Schaap-Taylor-Baraitsersyndroom |
| pt | Síndrome de catarata-surdez-hipogonadismo | Síndrome Schaap-Taylor-Baraitser |
| pl | Zaćma - głuchota - hipogonadyzm | Zespół Schaapa, Taylora i Baraitsera |
| cs | Syndrom zahrnující kataraktu, hluchotu a hypogonadismus | Schaapův-Taylorův-Baraitserův syndrom · Schaap-Taylor-Baraitserův syndrom |
| uk | Синдром катаракти-глухоти-гіпогонадизму | Синдром катаракти-глухоти-гіпогонадизму · Синдром Шаапа-Тейлора-Барайзера |
| zh | 白内障-耳聋-性腺机能减退综合征 | 白内障-听力丧失-性腺功能减退综合征 |
| tr | Katarakt-sağırlık-hipogonadizm sendromu | Schaap-Taylor-Baraitser sendromu · Katarakt-işitme kaybı-hipogonadizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0015325 | E | validated | |
| MeSH | C536626 | E | validated | |
| UMLS | C2931269 | E | validated | |
| GARD | 248 | 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 (5):
- 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 - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8574417[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8574417[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
6 annotations · validated 2019-03-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000519 | Developmental cataract | |
| HP:0004554 | Generalized hypertrichosis | |
| HP:0000135 | Hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
Annotation source: 8574417[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1383
- This record as JSON: /data/d/1383.json