Hirschsprung disease-deafness-polydactyly syndrome
Synonyms: Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hirschsprung disease-deafness-polydactyly syndrome | Hirschsprung disease-hearing loss-polydactyly syndrome · Santos-Mateus-Leal syndrome |
| fr | Syndrome de maladie de Hirschsprung-polydactylie-surdité | Syndrome de Santos-Mateus-Leal |
| de | Hirschsprung-Krankheit - Polydaktylie - Innenohrtaubheit | Santos-Mateus-Leal-Syndrom |
| es | Síndrome de enfermedad de Hirschsprung-polidactilia-sordera | Síndrome de Santos-Mateus-Leal · Síndrome de enfermedad de Hirschsprung-polidactilia-hipoacusia |
| it | Malattia di Hirschsprung - sordità - polidattilia | Malattia di Santos-Mateus-Leal |
| nl | Ziekte van Hirschsprung - doofheid - polydactylie-syndroom | Syndroom van Santos-Mateus-Leal · Ziekte van Hirschsprung - gehoorverlies - polydactylie-syndroom |
| pt | Síndrome de doença Hirschsprung-surdez-polidactilia | Síndrome Santos-Mateus-Leal |
| pl | Choroba Hirschsprung - głuchota - polidaktylia | Zespół Santosa, Mateusa i Leala |
| cs | Syndrom zahrnující Hirschsprungovu chorobu, hluchotu a polydaktylii | Santosův-Mateusův-Lealův syndrom · Santos-Mateus-Lealův syndrom |
| uk | Хвороба Гіршпрунга - синдром глухоти-полідактилії | Хвороба Гіршпрунга з втратою слуху і полідактилією · Синдром Сантоса-Матеуса-Ліля |
| zh | 先天性巨结肠- 聋-多指（趾）畸形综合征 | 多毛症-听力损失-多指（趾）畸形综合征 |
| tr | Hirschsprung hastalığı-sağırlık-polidaktili sendromu | Santos-Mateus-Leal sendromu · Hirschsprung hastalığı-işitme kaybı-polidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235740 | E | validated | |
| ICD-10 | Q43.1 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009342 | E | validated | |
| MeSH | C537235 | E | validated | |
| UMLS | C2931452 | E | validated | |
| GARD | 157 | 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 (5):
- 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 - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 | 3351909[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3351909[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
7 annotations · validated 2017-11-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0001829 | Foot polydactyly | |
| Frequent (79-30%) | ||
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000104 | Renal agenesis | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2155
- This record as JSON: /data/d/2155.json