Keipert syndrome

Orpha code: 2662OMIM code: 301026

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Nasodigitoacoustic syndrome
Zespół nosowo-palcowo-akustyczny
ORPHA code
2662
OMIM code
301026
ICD10 code
Q87.0
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl