ORPHA:2234
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
historical
Synonyms: Sohval-Soffer syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, hypergonadotropic hypogonadism, germinal aplasia or complete tubular fibrosis, aspermatogenesis, gynecomastia, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. There have been no further descriptions in the literature since 1953.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | Sohval-Soffer syndrome |
| fr | Syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques | Syndrome de Sohval-Soffer |
| de | Männlicher Hypogonadismus-Intelligenzminderung-Skelettanomalien-Syndrom | Sohval-Soffer-Syndrom |
| es | Síndrome de hipogonadismo hipergonadotrópico masculino-discapacidad intelectual-anomalías esqueléticas | Síndrome de Sohval-Soffer |
| it | Sindrome ipogonadismo ipergonadotropo maschile-disabilità intellettiva-anomalie scheletriche | Sindrome di Sohval-Soffer |
| nl | Mannelijk hypergonadotroop hypogonadisme - intellectuele achterstand - skeletanomalieën-syndroom | Syndroom van Sohval-Soffer |
| pt | Síndrome de hipogonadismo hipergonadotrópico masculino-perturbação do desenvolvimento intelectual-anomalias esqueléticas | Síndrome Sohval-Soffer |
| pl | Męski hipogonadyzm hipergonadotropowy - niepełnosprawność intelektualna - wady szkieletowe | Zespół Sohval i Soffer |
| cs | Syndrom zahrnující mužský hypergonadotropní hypogonadismus, mentální retardaci a kosterní anomálie | Sohvalův-Sofferův syndrom · Sohval-Sofferův syndrom |
| uk | Синдром чоловічого гіпергонадотропного гіпогонадизму - інтелектуальної недостатності - скелетних аномалій | Синдром Сохваль-Соффера |
| zh | 男性高促性腺激素性性腺功能减退-智力障碍-骨骼异常综合征 | Sohval-Soffer 综合征 |
| tr | Erkek hipergonadotropik hipogonadizm-zihinsel yetersizlik-iskelet anomalileri sendromu | Sohval-Soffer sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 307500 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010617 | E | validated | |
| MeSH | C536679 | E | validated | |
| UMLS | C2931285 | E | validated | |
| GARD | 4899 | 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 (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.
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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 | 13030490[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_13030490[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
19 annotations · validated 2017-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000708 | Atypical behavior | |
| HP:0000144 | Decreased fertility | |
| HP:0008734 | Decreased testicular size | |
| HP:0003782 | Eunuchoid habitus | |
| HP:0000771 | Gynecomastia | |
| HP:0002937 | Hemivertebrae | |
| HP:0000135 | Hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001249 | Intellectual disability | |
| HP:0000046 | Small scrotum | |
| HP:0005978 | Type II diabetes mellitus | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0100745 | Abnormality of the humeroulnar joint | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0001513 | Obesity | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0002231 | Sparse body hair | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2234
- This record as JSON: /data/d/2234.json