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Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of Klippel-Feil syndrome, a skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. KFS4 features additionally include myopathy, mild short stature, microcephaly, and distinctive facies.
Mondo Term and Equivalent IDs
MONDO:0014689:  Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
DOID:0080592: 
Orphanet:447974: 
UMLS:C4225285: