Pili torti-developmental delay-neurological abnormalities syndrome
Pili torti-developmental delay-neurological abnormalities syndrome
Definition
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
Also known as abnormal hair, joint laxity, and developmental delay — per MONDO