Klippel-Feil Syndrome 3, Autosomal Dominant (KFS3)

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OMIM 58 613702 MeSH 45 D007714 MedGen 43 C3150967

SNOMED-CT via HPO 70 263681008 39302008 UMLS 74 C3150967

OMIM : ⁵⁸ Klippel-Feil syndrome 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). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). (613702)

MalaCards based summary : Klippel-Feil Syndrome 3, Autosomal Dominant, is also known as kfs3. An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (Growth Differentiation Factor 3). Related phenotypes are chorioretinal coloboma and iris coloboma

UniProtKB/Swiss-Prot : ⁷⁶ Klippel-Feil syndrome 3, autosomal dominant: 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.

Clinical features from OMIM:

613702

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Search GEO for disease gene expression data for Klippel-Feil Syndrome 3, Autosomal Dominant.