Keipert syndrome
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.
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
KPTS
exact
Keipert syndrome
exact
Keipert syndrome, X-linked recessive
exact
nasodigitoacoustic syndrome
exact
nasodigitoacoustic syndrome, formerly
exact