ORPHA:2183
Hydrocephalus-obesity-hypogonadism syndrome
Synonyms: Sengers-Hamel-Otten syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrocephalus-obesity-hypogonadism syndrome | Sengers-Hamel-Otten syndrome |
| fr | Syndrome d'hydrocéphalie-obésité-hypogonadisme | Syndrome de Sengers-Hamel-Otten |
| de | Hydrozephalus-Adipositas-Hypogonadismus-Syndrom | Sengers-Hamel-Otten-Syndrom |
| es | Síndrome de hidrocefalia-obesidad-hipogonadismo | Síndrome de Sengers-Hamel-Otten |
| it | Idrocefalo - obesità - ipogonadismo | Sindrome di Sengers-Hamel-Otten |
| nl | Hydrocefalie - obesitas - hypogonadisme-syndroom | Syndroom van Sengers-Hamel-Otten |
| pt | Síndrome de hidrocefalia-obesidade-hipogonadismo | Síndrome Sengers-Hamel-Otten |
| pl | Wodogłowie - otyłość - hipogonadyzm | Zespół Sengersa, Hamela i Ottena |
| cs | Syndrom zahrnující hydrocefalus, obezitu a hypogonadismus | Sengersův-Hamelův-Ottenův syndrom · Sengers-Hamel-Ottenův syndrom |
| uk | Синдром гідроцефалії-ожиріння-гіпогонадизму | Синдром Сенгерса-Гамеля-Оттена |
| zh | 脑积水-肥胖-性腺功能减退综合征 | Sengers-Hamel-Otten综合征 |
| tr | Hidrosefali-obezite-hipogonadizm sendromu | Sengers-Hamel-Otten sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E66.8 | NTBT | attributed | validated |
| MONDO | 0016346 | E | validated | |
| UMLS | C4303476 | E | validated | |
| GARD | 2775 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 4039476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4039476[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.
6
HPO phenotypes
16 annotations · validated 2016-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002967 | Cubitus valgus | |
| HP:0000771 | Gynecomastia | |
| HP:0002705 | High, narrow palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002162 | Low posterior hairline | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001513 | Obesity | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0002550 | Absent facial hair | |
| HP:0000027 | Azoospermia | |
| HP:0007464 | Sparse facial hair | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 2502012[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2183
- This record as JSON: /data/d/2183.json