Klippel-feil syndrome 1, autosomal dominant

Preferred Label : Klippel-feil syndrome 1, autosomal dominant;

Symbol : KFS1;

CISMeF acronym : KFS; KFS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cervical vertebral fusion, autosomal dominant; KFS;

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). - Genetic Heterogeneity of Klippel-Feil Syndrome Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, and autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13. See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor 6 gene (GDF6, 601147.0001);

Prefixed ID : #118100;

Details

Origin ID

118100;

UMLS CUI

C1861689;

Automatic exact mappings (from CISMeF team)
- Isolated Klippel-Feil syndrome [ORDO Disease]
- Klippel Feil syndrome dominant type [MeSH concept]
- Klippel-Feil syndrome [MeSH Descriptor]
- growth differentiation factor 6 [ORDO Gene]
- growth differentiation factor 6 [HGNC gene]
- klippel feil syndrome dominant type [MeSH Supplementary Concept]
- symbol withdrawn SGM1 [HGNC gene]
DO Cross reference
- Klippel-Feil syndrome 1 [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 6 [OMIM gene]
HPO term(s)
- Abnormal rib morphology [HPO term]
- Abnormal vertebral segmentation and fusion [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of limb bone morphology [HPO term]
- Abnormality of the kidney [HPO term]
- Abnormality of the nervous system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bimanual synkinesia [HPO term]
- Cervical C2/C3 vertebral fusion [HPO term]
- Cervicomedullary schisis [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital muscular torticollis [HPO term]
- Facial asymmetry [HPO term]
- Hearing impairment [HPO term]
- Heterogeneous [HPO term]
- Limited neck range of motion [HPO term]
- Low posterior hairline [HPO term]
- Mixed hearing impairment [HPO term]
- Posterior fossa cyst [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Sprengel anomaly [HPO term]
- Unilateral renal agenesis [HPO term]
- Variable expressivity [HPO term]
- Webbed neck [HPO term]
- fusion of cervical vertebrae, most often c2-3 [HPO term]
ORDO concept(s)
- Isolated Klippel-Feil syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Klippel Feil syndrome dominant type [MeSH concept]
- klippel feil syndrome dominant type [MeSH Supplementary Concept]

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