Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Synonyms: Bassoe syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | Bassoe syndrome |
| fr | Syndrome de dystrophie musculaire congénitale-cataracte infantile-hypogonadisme | Syndrome de Bassoe |
| de | Kongenitale Muskeldystrophie-infantile Katarakt-Hyogonadismus-Syndrom | Bassoe-Syndrom |
| es | Síndrome de distrofia muscular congénita-catarata infantil-hipogonadismo | Síndrome de Bassoe |
| it | Distrofia muscolare congenita - cataratta infantile - ipogonadismo | Sindrome di Bassoe |
| nl | Congenitale spierdystrofie - infantiel cataract - hypogonadisme-syndroom | Syndroom van Bassoe |
| pt | Síndrome de distrofia muscular congénita-catarata infantil-hipogonadismo | Síndrome Bassoe |
| pl | Wrodzona dystrofia mięśniowa - zaćma dziecięca - hipogonadyzm | Zespół Bassoe |
| cs | Syndrom zahrnující vrozenou svalovou dystrofii, infantilní katarakta a hypogonadismus | Bassoeův syndrom |
| uk | Синдром вродженої мязової дистрофії - дитячої катаракти - гіпогонадизму | Синдром Бассо |
| zh | 先天性肌营养不良-婴儿白内障-性腺机能减退综合征 | Bassoe综合征 |
| tr | Doğumsal kas distrofisi-infantil katarakt-hipogonadizm sendromu | Bassoe sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254000 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0009680 | E | validated | |
| MeSH | C537661 | E | validated | |
| UMLS | C2931578 | E | validated | |
| GARD | 835 | 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 (3):
- ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological 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_13385309[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 13385309[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000137 | Abnormality of the ovary | |
| HP:0008734 | Decreased testicular size | |
| HP:0001288 | Gait disturbance | |
| HP:0000135 | Hypogonadism | |
| HP:0001252 | Hypotonia | |
| HP:0000298 | Mask-like facies | |
| HP:0003560 | Muscular dystrophy | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0002967 | Cubitus valgus | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1875
- This record as JSON: /data/d/1875.json