KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: KFS3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613702
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007748) Irido-fundal coloboma 3 / 7739
2
(HPO:0004635) Cervical C5/C6 vertebrae fusion 2 / 7739
3
(HPO:0002650) Scoliosis 705 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 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 Ye et al. (2010) described a 3-generation North American family with a spectrum of ocular and skeletal phenotypes. The proband had unilateral iris, retinal coloboma, rudimentary 12th ribs, and mild scoliosis. Her mother and aunt had Klippel-Feil cervical ...
Molecular genetics OMIM In a 3-generation North American family with Klippel-Feil syndrome, Ye et al. (2010) identified a heterozygous missense mutation (606522.0001) in the GDF3 gene that segregated with the skeletal phenotype in 4 family members.