Microcephaly-capillary malformation (MIC-CAP) syndrome consists of congenital microcephaly, multiple cutaneous capillary malformations, seizures, and severe developmental delay.
MIC-CAP syndrome is caused by a mutation in STAMBP. It is usually autosomal recessive, although uniparental disomy is also possible. Risk factors include family history and consanguinity. The condition is rare, with only 14 genetically confirmed reports to date: 10 males and 4 females.
Because there are so few cases, life expectancy is unknown. One patient was 9 years of age upon last follow-up. At least 3 patients have died in infancy.
Microcephaly-capillary malformation syndrome
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Codes
ICD10CM:
Q27.9 – Congenital malformation of peripheral vascular system, unspecified
SNOMEDCT:
703369003 – Microcephaly-capillary malformation syndrome
Q27.9 – Congenital malformation of peripheral vascular system, unspecified
SNOMEDCT:
703369003 – Microcephaly-capillary malformation syndrome
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Last Reviewed:02/20/2017
Last Updated:02/20/2017
Last Updated:02/20/2017