/Frank-Ter Haar syndrome

Frank-Ter Haar syndrome

Rare Disease

MONDO:0009579

Also Known As

Borrone Dermatocardioskeletal syndromeBorrone di Rocco Crovato syndromeFrank-Ter Haar syndromeTer Haar syndromeBorrone dermatocardioskeletal syndromeFRANK-TER Haar syndromeFTHSFrank Ter Haar syndromeMelnick-Needles syndrome, autosomal recessiveMelnick-Needles syndrome, autosomal recessive, formerlyautosomal recessive Melnick-Needles syndrome (formerly)megalocornea, multiple skeletal anomalies, and developmental delay

Definition

A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.