chromosome 15q26-qter deletion syndrome

A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild crani

A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.

Signs and symptoms

• Micropenis
• Microcephaly
• Abnormal cardiac septum morphology
• Wide nasal bridge
• Strabismus
• Talipes equinovarus
• Short stature
• Brachydactyly
• Blepharophimosis
• Global developmental delay

Also known as: 15q26 deletion syndrome; Drayer syndrome; distal 15q deletion syndrome; distal monosomy 15q; telomeric 15q deletion syndrome