NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2662 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. Visit the Orphanet disease page for more resources.
MalaCards based summary :
Keipert Syndrome, also known as
nasodigitoacoustic syndrome, is related to
branchiootic syndrome 1 and
ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Keipert Syndrome is
GPC4 (Glypican 4), and among its related pathways/superpathways is
Wnt signaling pathway. Affiliated tissues include
eye and
heart, and related phenotypes are
hypertelorism and
depressed nasal bridge
OMIM :
56
Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid's bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019).
(301026)
KEGG :
36
Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.
UniProtKB/Swiss-Prot :
73
Keipert syndrome: A X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness.
Wikipedia :
74
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described...
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Developmental anomalies during embryogenesis 
