label: Trichorhinophalangeal Syndrome Type I
label_lc: trichorhinophalangeal syndrome type i
description: "A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation."