EDINBURGH MALFORMATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 129850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000271) Abnormality of the face 108 / 7739
2
(HPO:0001270) Motor delay 322 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0005616) Accelerated skeletal maturation 46 / 7739
5
(HPO:0000952) Jaundice 105 / 7739
6
(HPO:0001508) Failure to thrive 454 / 7739
7
(HPO:0003265) Neonatal hyperbilirubinemia 6 / 7739
8
(OMIM) True or apparent hydrocephalus 1 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
(OMIM) Forehead hairiness 1 / 7739
11
(HPO:0000238) Hydrocephalus 278 / 7739
12
(OMIM) Carp mouth 2 / 7739
13
(OMIM) Unexplained neonatal hyperbilirubinemia 1 / 7739
14
(HPO:0001522) Death in infancy 275 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Habel (1974) described an Edinburgh family in which 5 infants (4 females, 1 male) in 4 sibships were found to have consistently abnormal facial appearance, true or apparent hydrocephalus, retardation in motor and mental development, failure to thrive, ...