Klippel-Feil syndrome

Term ID

DOID:10426

Synonyms

autosomal dominant Klippel-Feil syndrome
congenital dystrophia brevicollis
congenital synostosis of cervical vertebrae
Klippel-Feil and Turner syndrome
Klippel-Feil deformity, deafness and facial asymmetry

Definition

A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. (3)

References

GARD:10280
ICD10CM:Q76.1
ICD9CM:756.16
MESH:D007714
NCI:C98967
OMIM:PS118100
ORDO:2345
SNOMEDCT_US_2023_03_01:268349005
UMLS_CUI:C0022738

Ontology

Human Disease ( DOID:10426 )

Relationships

is a type of: physical disorder spinal disease syndrome

physical disorder spinal disease syndrome Show first 5 Terms
has subtype: Klippel-Feil syndrome 1 Klippel-Feil syndrome 2 Klippel-Feil syndrome 3 Klippel-Feil syndrome 4

Klippel-Feil syndrome 1 Klippel-Feil syndrome 2 Klippel-Feil syndrome 3 Klippel-Feil syndrome 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations