MICROCEPHALY-MICROMELIA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 251230
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001155) Abnormality of the hand 54 / 7739
3
(HPO:0002983) Micromelia 130 / 7739
4
(HPO:0009821) Forearm undergrowth 8 / 7739
5
(HPO:0001511) Intrauterine growth retardation 358 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Finger hypoplasia 1 / 7739
8
(OMIM) Single forearm bone 1 / 7739
9
(OMIM) Abnormal hands 1 / 7739
10
(OMIM) Fused elbows 1 / 7739
11
(MedDRA:10024500) Limb malformation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a highly inbred, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies were 'born to' 8 different mothers (Ives and Houston, 1980). The features were intrauterine growth retardation, perinatal death, marked microcephaly, and severe ...