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SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Microcephaly-capillary malformation syndrome
Other Resources UpToDate PubMed

Microcephaly-capillary malformation syndrome

Contributors: Caitlin M. Peterman MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
Q27.9 – Congenital malformation of peripheral vascular system, unspecified

SNOMEDCT:
703369003 – Microcephaly-capillary malformation syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Capillary malformation-arteriovenous malformation (CM-AVM) – CMs with a fast-flow AVM. Can occur in the skin, muscle, bone, and/or internal organs. Can lead to life-threatening bleeding, congestive heart failure, and/or neurologic complications.
  • Primary microcephaly – Head circumference more than 2 SDs smaller than average at birth and more than 3 SDs after 6 months. Cognitive impairment ranges from mild to severe, but motor development is typically normal. May have mild seizures or hyperkinesia but lack other neurologic signs. A narrow sloping forehead is usually the only abnormal facial feature. No abnormalities in other organ systems. Mildly short stature, otherwise normal growth.

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:02/20/2017
Last Updated:02/20/2017
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Microcephaly-capillary malformation syndrome
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A medical illustration showing key findings of Microcephaly-capillary malformation syndrome : Seizures, Microcephaly, Developmental delay
Copyright © 2022 VisualDx®. All rights reserved.