Mikati-Najjar-Sahli syndrome
historical
Synonyms: Microcephaly-hypergonadotropic hypogonadism-short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndrome with hypergonadotropic hypogonadism characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (including a narrow forehead, synophrys, abnormally folded pinna, and micrognathia). Early teeth loss, gynecomastia, cubitus valgus, genu valgum and cryptorchidism were reported in some patients. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mikati-Najjar-Sahli syndrome | Microcephaly-hypergonadotropic hypogonadism-short stature syndrome |
| fr | Syndrome de Mikati-Najjar-Sahli | Syndrome de microcéphalie-hypogonadisme hypergonadotrope-petite taille |
| de | Mikati-Najjar-Sahli-Syndrom | Mikrozephalie - hypergonadotroper Hypogonadismus - Kleinwuchs |
| es | Síndrome de Mikati-Najjar-Sahli | Microcefalia-hipogonadismo hipergonadotrópico-talla baja |
| it | Sindrome di Mikati-Najjar-Sahli | Microcefalia - ipogonadismo ipergonadotropo - bassa statura |
| nl | Syndroom van Mikati-Najjar-Sahli | Microcefalie - hypergonadotroop hypogonadisme - kleine gestalte-syndroom |
| pt | Síndrome Mikati-Najjar-Sahli | Síndrome de microcefalia-hipogonadismo hipergonadotrópico-baixa estatura |
| pl | Zespół Mikati, Najjara i Sahli | Mikrocefalia - hipogonadyzm hipergonadotropowy - niski wzrost |
| cs | Mikatiho-Najjarův-Sahliové syndrom | Syndrom zahrnující mikrocefalii, hypergonadotropní hypogonadismus a malý vzrůst · Mikati-Najjar-Sahliové syndrom |
| uk | Синдром Мікаті-Наджар-Сахлі | Синдром мікроцефалії-гіпергонадотропного гіпогонадизму- низького зросту |
| zh | Mikati-Najjar-Sahli综合征 | 小头畸形-高促性腺素性功能减退症-身材矮小综合征 |
| tr | Mikati-Najjar-Sahli sendromu | Mikrosefali-hipergonadotropik hipogonadizm-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0016818 | E | validated | |
| UMLS | C4518578 | 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: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 | 5 cases | Worldwide | Case(s) | Validated | 2998187[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2998187[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/2558
- This record as JSON: /data/d/2558.json