Teebi-Shaltout syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Teebi-Shaltout syndrome | |
| fr | Syndrome de Teebi-Shaltout | |
| de | Teebi-Shaltout-Syndrom | |
| es | Síndrome de Teebi-Shaltout | |
| it | Sindrome di Teebi-Shaltout | |
| nl | Syndroom van Teebi-Shaltout | |
| pt | Síndrome Teebi-Shaltout | |
| pl | Zespół Teebi i Shaltouta | |
| cs | Teebiho-Shaltoutové syndrom | Teebi-Shaltoutové syndrom |
| uk | Синдром Тібі-Шалтаута | |
| zh | Teebi-Shaltout综合征 | |
| tr | Teebi-Shaltout sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272950 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| MONDO | 0010101 | E | validated | |
| MeSH | C536950 | E | validated | |
| UMLS | C1848912 | E | validated | |
| GARD | 5125 | 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 (2):
- ORPHA:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin 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 | 5 cases | Worldwide | Case(s) | Validated | 23918592[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23918592[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/3291
- This record as JSON: /data/d/3291.json