The clinical atlas of Greig cephalopolysyndactyly syndrome.
Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the GLI3 gene. The syndrome typically includes preaxial or mixed pre- and postaxial polydactyly and cutaneous syndactyly, ocular hypertelorism, and macrocephaly in its typical forms, but sometimes includes hydrocephalus, seizures, mental retardation, and developmental delay in more severe cases. Patients with milder forms of GCPS can have subtle craniofacial dysmorphic features that are difficult to distinguish from normal variation. This article presents the spectrum of dysmorphic findings in GCPS highlighting some of its key presenting features to familiarize clinicians with the variable expressivity of the condition.
Balk
Katherine
K
National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.
Biesecker
Leslie G
LG
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D017689:Polydactyly / Q000175:diagnosis*; D013576:Syndactyly / Q000175:diagnosis*; D013577:Syndrome; D000074290:Zinc Finger Protein Gli3
C065683:GLI3 protein, human; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D000074290:Zinc Finger Protein Gli3