KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: KFS, AUTOSOMAL RECESSIVE
CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE
KFS2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 214300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000204) Cleft upper lip 193 / 7739
2
(HPO:0000466) Limited neck range of motion 5 / 7739
3
(HPO:0000175) Cleft palate 349 / 7739
4
(HPO:0000470) Short neck 345 / 7739
5
(HPO:0002162) Low posterior hairline 88 / 7739
6
(HPO:0000405) Conductive hearing impairment 164 / 7739
7
(HPO:0000377) Abnormality of the pinna 111 / 7739
8
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
(HPO:0002650) Scoliosis 705 / 7739
10
(HPO:0004602) Cervical C2/C3 vertebral fusion 3 / 7739
11
(HPO:0002949) Fused cervical vertebrae 13 / 7739
12
(HPO:0000912) Sprengel anomaly 51 / 7739
13
(HPO:0001629) Ventricular septal defect 316 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

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 ...
Clinical Description OMIM Lubs et al. (1963) reported a family in which 2 of 11 sibs had fusion of vertebrae C5-6; a third sib had narrowing of the interspace. The parents were probably consanguineous.

Juberg and Gershanik (1976) reported ...

Molecular genetics OMIM In a large consanguineous Saudi family segregating autosomal recessive Klippel-Feil syndrome mapping to chromosome 17q21.31, Mohamed et al. (2013) analyzed the candidate gene MEOX1 and identified a homozygous 1-bp deletion (600147.0001) that segregated fully with the disease and ...