Hirschsprung disease-type D brachydactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hirschsprung disease-type D brachydactyly syndrome | |
| fr | Syndrome de maladie de Hirschsprung-brachydactylie type D | |
| de | Hirschsprung-Krankheit Typ D-Brachydaktylie-Syndrom | |
| es | Síndrome de enfermedad de Hirschsprung tipo D-braquidactilia | |
| it | Brachidattialia di Hirschsprung | |
| nl | Ziekte van Hirschsprung - brachydactylie type D-syndroom | |
| pt | Síndrome de doença Hirschsprung-braquidactilia tipo D | |
| pl | Choroba Hirschsprunga - brachydaktylia typu D | |
| cs | Syndrom zahrnující Hirschsprungovu chorobu a brachydaktylii typu D | |
| uk | Синдром брахідактилії типу D при хворобі Гіршпрунга | |
| zh | 先天性巨结肠-短指（趾）症D型综合征 | |
| tr | Hirschsprung hastalığı-tip D brakidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 306980 | E | validated | |
| ICD-10 | Q43.1 | NTBT | attributed | validated |
| MONDO | 0016294 | E | validated | |
| MeSH | C538319 | E | validated | |
| UMLS | C4303481 | E | validated | |
| GARD | 2700 | 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 (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
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 | 4 cases | Worldwide | Case(s) | Validated | 6823428[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6823428[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
6 annotations · validated 2017-11-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0009650 | Short distal phalanx of the thumb | |
| HP:0010111 | Short phalanx of hallux | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2150
- This record as JSON: /data/d/2150.json