chromosome 15q26-qter deletion syndrome

Rare Disease

MONDO:0012964

Also Known As

15q26 deletion syndromeDrayer syndromechromosome 15q26-qter deletion syndromechromosome 15q26-qter deletion syndrome, isolated casesdistal 15q deletion syndromedistal monosomy 15qdistal monosomy type 15qmonosomy 15q26telomeric 15q deletion syndrome

Definition

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.