Hirschsprung disease - deafness - polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs: Santos-Mateus-Leal syndrome
Number of Symptoms 12
OrphanetNr: 2155
OMIM Id: 235740
ICD-10: Q43.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic intestinal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
3
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
4
 (HPO:0000365) Hearing impairment 539 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
6
 (HPO:0002251) Aganglionic megacolon Very frequent [Orphanet] 78 / 7739
7
 (HPO:0010442) Polydactyly 69 / 7739
8
 (HPO:0001161) Hand polydactyly 71 / 7739
9
 (HPO:0001829) Foot polydactyly Very frequent [Orphanet] 41 / 7739
10
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 119 / 7739
11
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: