Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome | |
| fr | Syndrome autosomique dominant de polydactylie préaxiale-hypertrichose du haut du dos | |
| de | Autosomal-dominante präaxiale Polydaktylie mit Hypertrichose des oberen Rückens | |
| es | Síndrome de polidactilia preaxial-hipertricosis de la parte superior de la espalda autosómico dominante | |
| it | Sindrome autosomica dominante polidattilia preassiale-ipertricosi della parte superiore della schiena | |
| nl | Autosomaal dominant preaxiale polydactylie - hypertrichose van bovenrug-syndroom | |
| pt | Síndrome de polidactilia preaxial-hipertricose da parte superior das costas autossómica dominante | |
| pl | Autosomalny dominujący zespół polidaktylii przedosiowej i hipertrichozy w górnej części pleców | |
| cs | Autozomálně dominantní syndrom zahrnující preaxiální polydaktylii a hypertrichózu v horní části zad | |
| uk | Аутосомно-домінантний синдром преаксіальної полідактилії-гіпертрихозу верхньої частини спини | |
| zh | 常染色体显性遗传性前轴多指-上背部肥大综合征 | |
| tr | Otozomal dominant preaksiyal polidaktili-üst sırt hipertrikoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0018777 | E | validated | |
| UMLS | C5568802 | 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:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SHH | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | 25782671[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 25782671[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25782671[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/476119
- This record as JSON: /data/d/476119.json