Acrofacial dysostosis, Kennedy-Teebi type
Synonyms: Kennedy-Teebi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrofacial dysostosis, Kennedy-Teebi type | Kennedy-Teebi syndrome |
| fr | Dysostose acrofaciale de Kennedy-Teebi | Syndrome de Kennedy-Teebi |
| de | Dysostose, akrofaziale, Typ Kennedy-Teebi | Kennedy-Teebi-Syndrom |
| es | Disostosis acrofacial tipo Kennedy-Teebi | |
| it | Disostosi acrofacciale, tipo Kennedy-Teebi | Sindrome di Kennedy-Teebi |
| nl | Acrofaciale dysostose, Kennedy-Teebi-type | Syndroom van Kennedy-Teebi |
| pt | Disostose acrofacial autossómica recessiva | Disostose acrofacial tipo Kennedy-Teebi · Síndrome de Kennedy-Teebi |
| pl | Dyzostoza kończynowo-twarzowa typu Kennedy'ego i Teebiego | Zespół Kennedy'ego i Teebiego |
| cs | Akrofaciální dysostóza, Kennedyové-Teebiho typ | Kennedyové-Teebiho syndrom · Kennedy-Teebiho syndrom |
| uk | Акрофаціальний дизостоз, тип Кеннеді-Тібі | Синдром Кеннеді-Тібі |
| zh | 面骨发育不全，Kennedy-Teebi型 | Kennedy-Teebi综合征 |
| tr | Akrofasiyal dizostoz, Kennedy-Teebi tipi | Kennedy-Teebi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0018980 | E | validated | |
| UMLS | C4304094 | 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 (3):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic 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 | 2 cases | Worldwide | Case(s) | Validated | 15266620[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15266620[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/64542
- This record as JSON: /data/d/64542.json