Hypogonadism-mitral valve prolapse-intellectual disability syndrome
historical
Synonyms: Cantalamessa-Baldini-Ambrosi syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild intellectual disability, hypogonadism due to primary gonadal failure, mitral valve prolapse, and short stature. Dysmorphic features include low posterior hairline, highly arched palate, short neck, short fourth metacarpals, and cubitus valgus. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypogonadism-mitral valve prolapse-intellectual disability syndrome | Cantalamessa-Baldini-Ambrosi syndrome |
| fr | Syndrome d'hypogonadisme-prolapsus de la valve mitrale-déficience intellectuelle | Syndrome de Cantalamessa-Baldini-Ambrosi |
| de | Hypogonadismus-Mitralklappenprolaps-Intelligenzminderung-Syndrom | Cantalamessa-Baldini-Ambrosi-Syndrom |
| es | Síndrome de hipogonadismo-prolapso de válvula mitral-discapacidad intelectual | Síndrome de Cantalamessa-Baldini-Ambrosi |
| it | Sindrome ipogonadismo-prolasso della valvola mitrale-disabilità intellettiva | Sindrome di Cantalamessa-Baldini-Ambrosi |
| nl | Hypogonadisme - mitralisklepprolaps - intellectuele achterstand-syndroom | Syndroom van Cantalamessa-Baldini-Ambrosi |
| pt | Síndrome de hipogonadismo-prolapso da válvula mitral-perturbação do desenvolvimento intelectual | Síndrome Cantalamessa-Baldini-Ambrosi |
| pl | Hipogonadyzm - wypadanie płatka zastawki mitralnej - niepełnosprawność intelektualna | Zespół Cantalamessa,Baldiniego i Ambrosi |
| cs | Syndrom zahrnující hypogonadismus, prolaps mitrální chlopně a mentální retardaci | Cantalamessův-Baldiniho-Ambrosiův syndrom · Cantalamessa-Baldini-Ambrosiův syndrom |
| uk | Синдром гіпогонадизму - пролапсу мітрального клапана - інтелектуальної недостатності | Синдром Канталамесса-Бальдіні-Амброзі |
| zh | 性腺功能减退-二尖瓣脱垂-智力障碍综合征 | Cantalamessa-Baldini-Ambrosi综合征 |
| tr | Hipogonadizm-mitral kapak prolapsusu-zihinsel yetersizlik sendromu | Cantalamessa-Baldini-Ambrosi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1 | NTBT | attributed | validated |
| MONDO | 0016385 | E | validated | |
| MeSH | C537981 | E | validated | |
| UMLS | C2931685 | E | validated | |
| GARD | 1078 | 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: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:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders
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 | 2 cases | Worldwide | Case(s) | Validated | 2502012[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2502012[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0000144 | Decreased fertility | |
| HP:0000771 | Gynecomastia | |
| HP:0000218 | High palate | |
| HP:0000135 | Hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002162 | Low posterior hairline | |
| HP:0001513 | Obesity | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001634 | Mitral valve prolapse | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2233
- This record as JSON: /data/d/2233.json