Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
historical
Synonyms: Salti-Salem syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
A rare endocrine disease characterized by congenital hypogonadotropic hypogonadism and frontoparietal alopecia. Affected males also exhibit an absence of facial, axillary and pubic hair. Affected females present with more severe alopecia evident from early childhood, primary amenorrhea, absence of axillary and pubic hair, and lack of breast development. Except for failure of sexual development, all affected individuals had normal physical and intellectual development. There have been no further descriptions in the literature since 1979.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome | Salti-Salem syndrome |
| fr | Syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale | Syndrome de Salti-Salem |
| de | Hypogonadotroper Hypogonadismus-frontoparietale Alopezie-Syndrom | Salti-Salem-Syndrom |
| es | Síndrome de hipogonadismo hipogonadotrópico-alopecia fronto parietal | Síndrome de Salti-Salem |
| it | Ipogonadismo ipogonadotropo - alopecia frontoparietale | Sindrome di Salti-Salem |
| nl | Hypogonadotroop hypogonadisme - frontopariëtale alopecie-syndroom | Syndroom van Salti-Salem |
| pt | Síndrome de hipogonadismo hipogonadotrópico-alopecia frontoparietal | Síndrome Salti-Salem |
| pl | Hipogonadyzm hipergonadotropowy - łysienie czołowo-ciemieniowe | Zespół Salti i Salem |
| cs | Syndrom zahrnující hypogonadotropní hypogonadismus a frontoparietální alopecii | Saltiho-Salemův syndrom · Salti-Salemův syndrom |
| uk | Синдром гіпогонадотропного гіпогонадизму-лобно-тімяної алопеції | Синдром Саллі-Салема |
| zh | 低促性腺激素性性腺功能减退-额顶脱发综合征 | Salti-Salem 综合征 |
| tr | Hipogonadotropik hipogonadizm-frontoparietal alopesi sendromu | Salti-Salem sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | attributed | validated |
| MONDO | 0016384 | E | validated | |
| UMLS | C4303079 | E | validated | |
| GARD | 324 | 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 (1):
- ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric 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 |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 466617[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_466617[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2230
- This record as JSON: /data/d/2230.json