Further clinical delineation of microcephaly‐capillary malformation syndrome

Abstract

Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder reported in 18 individuals to date. The clinical features typically include microcephaly, multiple cutaneous capillary malformations, seizures, neurologic impairment, and global developmental delay. Currently, there is little published information about the natural history and long-term outcomes for individuals with MIC-CAP. In this report, we provide follow up on two previously published patients and describe four new patients. The included patients highlight increased variability in the clinical spectrum and provide novel information regarding medical complications and recurrent variants.

Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome

“…MIC-CAP is a rare neurodevelopmental disorder characterized by congenital microcephaly, early-onset intractable epilepsy, profound intellectual disability and diffuse cutaneous capillary malformations. Altogether 22 pathogenic mutations in the STAM binding protein gene have been reported in 24 patients from 8 ethnic populations [ [4] , [5] , [6] ]. The patient presented here met most of the characteristics of this novel syndrome just described in 2013 ( Table 2 ).…”

“…Microcephaly-capillary malformation syndrome (MIC-CAP) [ 1 ] is caused by biallelic STAMBP variants [ 2 , 3 ]. Only 24 patients with STAMBP mutations have been reported so far [ [4] , [5] , [6] ]. Microcephaly, generalized capillary malformations on the skin, global developmental delay and intractable epilepsy are the typical clinical manifestations.…”

Interdisziplinäres Management vaskulärer Anomalien im Kopf-Hals-Bereich

“…According to the ISSVA classification, reticular capillary malformations include two rare syndromes in which capillary malformations are associated with microcephaly or megalencephaly. In microcephaly-capillary malformation syndrome, affected patients suffer from multiple capillary malformations, microcephaly, seizures, neurological impairment and general developmental delay [29].…”

“…Zu den retikularen kapillären Malformationen gehören nach ISSVA-Klassifikation zwei seltene Syndrome, bei denen kapilläre Malformationen mit einer Mikrozephalie oder Megalenzephalie vergesellschaftet sind. Beim Mikrozephalie-kapilläre Malformationen-Syndrom leiden die betroffenen Patienten an multiplen kapillären Malformationen, Mikrozephalie, Krampfanfällen, neurologischen Einschränkungen und allgemeiner Entwicklungsverzögerung 29 . Das noch seltener vorkommende Megalenzephalie-kapilläre Malformationen-Polymikrogyri-Syndrom, ist gekennzeichnet durch multiple kapilläre Malformationen, Megalenzephalie, fokale Krampfanfälle und geistige Retardierung 30 .…”

“…According to the ISSVA classification, reticular capillary malformations include two rare syndromes in which capillary malformations are associated with microcephaly or megalencephaly. In microcephaly-capillary malformation syndrome, affected patients suffer from multiple capillary malformations, microcephaly, seizures, neurological impairment and general developmental delay 29 . The even rarer megalencephaly-capillary malformation-polymicrogyria syndrome is characterized by multiple capillary malformations, megalencephaly, focal seizures and mental retardation 30 .…”