Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
historical
Synonyms: Al Gazali-Donnai-Muller syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. 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-nail hypoplasia-dysmorphism syndrome | Al Gazali-Donnai-Muller syndrome |
| fr | Syndrome de maladie de Hirschsprung-hypoplasie des ongles-dysmorphie | Syndrome d'Al Gazali-Donnai-Muller |
| de | Hirschsprung-Krankheit-Nagelhypoplasie-Dysmorphie-Syndrom | Al Gazali-Donnai-Mueller-Syndrom |
| es | Síndrome de enfermedad de Hirschsprung-hipoplasia ungueal-dismorfia | Síndrome de Al Gazali-Donnai-Muller |
| it | Malattia di Hirschsprung - ipoplasia ungueale - dismorfismi | |
| nl | Ziekte van Hirschsprung - nagelhypoplasie - dysmorfie-syndroom | Syndroom van Al Gazali-Donnai-Muller |
| pt | Síndrome de doença Hirschsprung-hipoplasia ungueal-dismorfia | Síndrome Al Gazali-Donnai-Muller · Síndrome Al Gazali-Hirschsprung |
| pl | Zespół choroba Hirschsprunga, hipoplazji paznokci i dysmorfii | Zespół Al Gazali, Donnai i Mullera |
| cs | Hirschsprungova choroba, hypoplázie nehtů a dysmorfismus | Al Gazaliové-Donnaiové-Muellerův syndrom · Al Gazali-Donnai-Muellerův syndrom |
| uk | Хвороба Гіршпрунга - синдром гіпоплазії та дисморфізму нігтів | Синдром Аль-Газалі-Доннаї-Мюллера |
| zh | 先天性巨结肠-指甲发育不全-畸形综合征 | Al Gazali-Donnai-Muller综合征 |
| tr | Hirschsprung hastalığı-tırnak hipoplazisi-dismorfizm sendromu | Al Gazali-Donnai-Muller sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235760 | E | validated | |
| ICD-10 | Q43.1 | NTBT | attributed | validated |
| MONDO | 0009344 | E | validated | |
| MeSH | C535615 | E | validated | |
| UMLS | C1856110 | E | validated | |
| GARD | 584 | 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: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:79370Syndromic nail anomaly
rare genetic diseases; rare skin 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 | 3 cases | Worldwide | Case(s) | Validated | 3236354[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/2153
- This record as JSON: /data/d/2153.json