Short stature-pituitary and cerebellar defects-small sella turcica syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-pituitary and cerebellar defects-small sella turcica syndrome | |
| fr | Syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale | |
| de | Kleinwuchs-Hypophysen- und zerebelläre Defekte-kleine Sella turcica-Syndrom | |
| es | Síndrome de talla baja-defectos en el cerebelo e hipófisis-silla turca pequeña | |
| it | Bassa statura - anomalie dell'ipofisi e del cervelletto - sella turcica piccola | |
| nl | Kleine gestalte - hypofysaire en cerebellaire defecten - kleine sella turcica-syndroom | |
| pt | Síndrome de baixa estatura-defeitos da pituitária e do cerebelo-sela turca pequena | |
| pl | Niski wzrost - wady możdżku i przysadki - małe siodło tureckie | |
| cs | Syndrom zahrnující malý vzrůst, vady hypofýzy a mozečku a malé sella turcica | |
| uk | Синдром низькорослості-дефектів гіпофіза та мозочка-малого турецького сідла | |
| zh | 身材矮小-垂体和小脑缺陷-小蝶鞍综合征 | |
| tr | Kısa boy-hipofiz ve serebellar defektler-küçük sella tursika sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262700 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | attributed | validated |
| MONDO | 0009880 | E | validated | |
| UMLS | C4303613 | E | validated | |
| GARD | 10604 | 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:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LHX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:21734 | ENSG00000121454 | 602146 | 1q25.2 | LIM homeobox 4 | 11567216[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 11567216[PMID]_17527005[PMID]_18073311[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11567216[PMID]_17527005[PMID]_18073311[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/85442
- This record as JSON: /data/d/85442.json