FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Klippel-Feil syndrome ID (Ontology) DOID:10426 (Human Disease)
Definition A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.
Also Known As "autosomal dominant Klippel-Feil syndrome" ; "congenital dystrophia brevicollis" ; "congenital synostosis of cervical vertebrae" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
Only view relationship: 
bone disease
 |__spinal disease_____
disease                |
 |__physical disorder__|
 |__syndrome___________|
                       Klippel-Feil syndrome  2 rec.
                        |__Klippel-Feil syndrome 1
                        |__Klippel-Feil syndrome 2 1 rec.
                        |__Klippel-Feil syndrome 3
                        |__Klippel-Feil syndrome 4 1 rec.
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Is a spinal disease
physical disorder
syndrome
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Synonyms
  • "autosomal dominant Klippel-Feil syndrome" EXACT
    "congenital dystrophia brevicollis" EXACT
    "congenital synostosis of cervical vertebrae" EXACT
    "Klippel-Feil and Turner syndrome" EXACT
    "Klippel-Feil deformity, deafness and facial asymmetry" EXACT
Secondary IDs
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GARD:10280
ICD10CM:Q76.1
ICD9CM:756.16
MESH:D007714
MIM:PS118100
NCI:C98967
ORDO:2345
SNOMEDCT_US_2023_03_01:268349005
UMLS_CUI:C0022738