Microcephaly-capillary malformation syndrome

Disease Export to PDF
Name:
Microcephaly-capillary malformation syndrome
Description:
Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.
ORPHAcode:
294016
Synonyms:
MIC-CAP syndrome
MIC-CM syndrome
Microcephaly-cutaneous capillary malformation syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14