Keipert syndrome is 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. [ Orphanet:2662 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_malformation_syndrome

definition

Keipert syndrome is 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.

exactMatch

http://identifiers.org/mesh/C538337

http://linkedlifedata.com/resource/umls/id/C1850627

http://identifiers.org/omim/255980

http://identifiers.org/snomedct/763774001

http://www.orpha.net/ORDO/Orphanet_2662

http://identifiers.org/omim/301026

has exact synonym

nasodigitoacoustic syndrome

Keipert syndrome

KPTS

nasodigitoacoustic syndrome, formerly

id

MONDO:0009720