Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
ORPHA:652487· ICD-10 Q87.3
Definition
A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behaviour abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/ overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large everted ears and thin upper lip). Other clinical features include variable and mild intellectual diability when present, broad short hands and feet.
- Inheritance
- Autosomal dominant