Klippel-feil syndrome 2, autosomal recessive

Preferred Label : Klippel-feil syndrome 2, autosomal recessive;

Symbol : KFS2;

CISMeF acronym : KFS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cervical vertebral fusion, autosomal recessive; Kfs, autosomal recessive;

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). 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mesenchyme homeobox 1 gene (MEOX1, 600147.0001);

Prefixed ID : #214300;

Details

Origin ID

214300;

UMLS CUI

C1859209;

Automatic exact mappings (from CISMeF team)
- Isolated Klippel-Feil syndrome [ORDO Disease]
- Klippel Feil syndrome recessive type [MeSH concept]
- klippel feil syndrome recessive type [MeSH Supplementary Concept]
DO Cross reference
- Klippel-Feil syndrome 2 [DO Concept]
Genes related to phenotype
- Mesenchyme homeobox 1 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cervical C2/C3 vertebral fusion [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Conductive hearing impairment [HPO term]
- Fused cervical vertebrae [HPO term]
- Limited neck range of motion [HPO term]
- Low posterior hairline [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Sprengel anomaly [HPO term]
- Ventricular septal defect [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 recessive type [MeSH concept]
- klippel feil syndrome recessive type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients