IllnessGreig cephalopolysyndactyly, differential diagnosis

NGS +

Patients with Greig-cephalopolysyndactyly syndrome typically have pre- or postaxial polydactyly (fingers and/or toes), broad thumbs (or halluces) and cutaneous syndactyly. The disease is also characterized by hypertelorism, macrocephaly and a high prominent forehead. Rarely do those affecteds exhibit more serious medical problems such as seizures, delayed development and intellectual deficits. Heredity is autosomal dominantly, lack of penetrance has been observed. The diagnostic yield varies widely in different studies, but 80% pathogenic sequence variations and 20% deletions/duplications can be assumed. An inconspicuous genetic finding does not exclude a suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1446/

• Alias: Greig cephalopolysyndactyly syndrome
• Allelic: Al-Gazali-Bakalinova syndrome (KIF7)
• Allelic: Hydrolethalus syndrome 2 (KIF7)
• Allelic: Hypothalamic hamartomas, somatic
• Allelic: Joubert syndrome 10 (OFD1)
• Allelic: Joubert syndrome 12 (KIF7)
• Allelic: Pallister-Hall syndrome (GLI3)
• Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
• Allelic: Polydactyly, preaxial, type IV (GLI3)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Acrocallosal syndrome (KIF7)
• Craniofrontonasal dysplasia (EFNB1)
• Orofaciodigital syndrome I (OFD1)