ORPHA:93409
Brachydactyly-syndactyly, Zhao type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-syndactyly, Zhao type | |
| fr | Brachydactylie-syndactylie type Zhao | |
| de | Brachydaktylie-Syndaktylie Typ Zhao | |
| es | Braquidactilia-sindactilia, tipo Zhao | |
| it | Brachidattilia - sindattilia, tipo Zhao | |
| nl | Brachydactylie-syndactylie, Zhao-type | |
| pt | Braquidactilia-sindactilia, tipo Zhao | |
| pl | Brachydaktylia-syndaktylia typu Zhao | |
| cs | Brachydaktylie a syndaktylie, Zhaové typ | |
| uk | Брахідактилія-синдактилія, тип Чжао | |
| zh | 短指（趾）-并指（趾）畸形，赵型 | |
| tr | Brakidaktili-sindaktili, Zhao tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610713 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 12544 | E | validated | |
| UMLS | C4303990 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXD13 | Disease-causing germline mutation(s) in | Assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 17236141[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 17236141[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17236141[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.
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HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010047 | Short 5th metacarpal | |
| HP:0004704 | Short fifth metatarsal | |
| HP:0009577 | Short middle phalanx of the 2nd finger | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0001822 | Hallux valgus | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 17236141[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93409
- This record as JSON: /data/d/93409.json