KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT
KFS1
KFS
Number of Symptoms 10
OrphanetNr:
OMIM Id: 118100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0000324) Facial asymmetry 57 / 7739
2
(HPO:0002162) Low posterior hairline 88 / 7739
3
(HPO:0000466) Limited neck range of motion 5 / 7739
4
(HPO:0000175) Cleft palate 349 / 7739
5
(HPO:0000470) Short neck 345 / 7739
6
(HPO:0000405) Conductive hearing impairment 164 / 7739
7
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
(HPO:0002650) Scoliosis 705 / 7739
9
(HPO:0000912) Sprengel anomaly 51 / 7739
10
(OMIM) Fusion of cervical vertebrae, most often C2-3 1 / 7739

Associated genes:

GDF6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Klippel and Feil (1912) first described the disorder in a 46-year-old French man who had a short immobile neck with massive fusion of cervical and upper thoracic vertebrae.

Shaver et al. (1986) reported a family in which ...

Molecular genetics OMIM In affected members of a 3-generation family with autosomal dominant Klippel-Feil syndrome, Tassabehji et al. (2008) identified a heterozygous mutation in the GDF6 gene (A249E; 601147.0001). A different heterozygous mutation (L289P; 601147.0002) was identified in 2 unrelated patients with ...