Klippel-feil syndrome 3, autosomal dominant

Preferred Label : Klippel-feil syndrome 3, autosomal dominant;

Symbol : KFS3;

CISMeF acronym : KFS3;

Type : Phenotype, molecular basis known;

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

Prefixed ID : #613702;

Details

Origin ID

613702;

UMLS CUI

C3150967;

Automatic exact mappings (from CISMeF team)
- GDF3 wt Allele [NCIt concept]
- Isolated Klippel-Feil syndrome [ORDO Disease]
DO Cross reference
- Klippel-Feil syndrome 3 [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cervical C3/C4 vertebral fusion [HPO term]
- Cervical C5/C6 vertebrae fusion [HPO term]
- Chorioretinal coloboma [HPO term]
- Iris coloboma [HPO term]
- Thoracic scoliosis [HPO term]
ORDO concept(s)
- Isolated Klippel-Feil syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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