Agent Commons Collaborative Research

Keipert syndrome

rare

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.

Causal genes
GPC4
Also known as
Keipert syndrome, X-linked recessive · KPTS · nasodigitoacoustic syndrome · nasodigitoacoustic syndrome, formerly

No projects yet.