Absent thumb-short stature-immunodeficiency syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndrome with combined immunodeficiency characterized by thumb aplasia, short stature with skeletal abnormalities including unfused olecranon, and combined immunodeficiency manifested with severe chickenpox and chronic candidiasis. Additional clinical features may include flat facies, anosmia, congenital septal defects and delayed puberty. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Absent thumb-short stature-immunodeficiency syndrome | |
| fr | Syndrome des pouces absents-petite taille-déficit immunitaire | |
| de | Fehlende Daumen-Kleinwuchs-Immundefekt-Syndrom | |
| es | Síndrome de pulgares ausentes-talla baja-inmunodeficiencia | |
| it | Sindrome da assenza dei pollici-bassa statura-immunodeficienza | |
| nl | Afwezige duim - kleine gestalte - immuundeficiëntie-syndroom | |
| pt | Síndrome de ausência do polegar-baixa estatura-imunodeficiência | |
| pl | Brak kciuka - niski wzrost - Niedobór odporności | |
| cs | Syndrom zahrnující chybějící palec na ruce, malý vzrůst a imunodeficit | |
| uk | Синдром відсутнього великого пальця руки-низького зросту-імунодефіциту | |
| zh | 拇指缺如-身材矮小-免疫缺陷综合征 | |
| tr | Başparmak yokluğu-kısa boy-immün yetmezlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274190 | E | validated | |
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0010123 | E | validated | |
| UMLS | C4304503 | 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:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological 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 | 3 cases | Worldwide | Case(s) | Validated | 728551[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_728551[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/2951
- This record as JSON: /data/d/2951.json