KFS2
MCID: KLP008
MIFTS: 27
|
Klippel-Feil Syndrome 2, Autosomal Recessive (KFS2)
Categories:
Bone diseases, Genetic diseases, Rare diseases
|
|
MalaCards integrated aliases for Klippel-Feil Syndrome 2, Autosomal Recessive:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on reports of one consanguineous saudi family and one consanguineous turkish family (last curated december 2014) HPO:31Classifications: |
OMIM :
56
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies.
For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (214300)
MalaCards based summary : Klippel-Feil Syndrome 2, Autosomal Recessive, also known as klippel-feil syndrome 2, is related to klippel-feil syndrome. An important gene associated with Klippel-Feil Syndrome 2, Autosomal Recessive is MEOX1 (Mesenchyme Homeobox 1). Affiliated tissues include bone, and related phenotypes are short neck and scoliosis Disease Ontology : 12 A Klippel-Feil syndrome that has material basis in homozygous mutation in the MEOX1 gene on chromosome 17q21. UniProtKB/Swiss-Prot : 73 Klippel-Feil syndrome 2, autosomal recessive: 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. |
Diseases in the Klippel-Feil Syndrome family:
Diseases related to Klippel-Feil Syndrome 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:
|
Human phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:31 (show all 13)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:214300MGI Mouse Phenotypes related to Klippel-Feil Syndrome 2, Autosomal Recessive:45
|
|
MalaCards organs/tissues related to Klippel-Feil Syndrome 2, Autosomal Recessive:40
Bone
|
Articles related to Klippel-Feil Syndrome 2, Autosomal Recessive:(show all 11)
|
ClinVar genetic disease variations for Klippel-Feil Syndrome 2, Autosomal Recessive:6
|
Search
GEO
for disease gene expression data for Klippel-Feil Syndrome 2, Autosomal Recessive.
|
Biological processes related to Klippel-Feil Syndrome 2, Autosomal Recessive according to GeneCards Suite gene sharing:
|
|