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Isolated Klippel-Feil syndrome
3 OMIM references -
3 associated genes
35 connected diseases
25 signs/symptoms
Disease Type of connection
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Leber congenital amaurosis
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Otofaciocervical syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Brachydactyly type A2
Brachydactyly type C
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Juvenile polyposis of infancy
Pulmonary venoocclusive disease
Angelman syndrome
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Xq27.3q28 duplication syndrome
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Huntington disease
Juvenile Huntington disease
Synonym(s):
- Congenital cervical vertebral fusion
- Congenital fused cervical segments
- Klippel-Feil malformation
- Klippel-Feil sequence
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GDF3 Q9NR23606522
GDF6 Q6KF10601147
MEOX1 P50221600147
Very frequent
- Anomalies of spine, vertebrae and pelvis
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Low hair line (back)
- Short neck
- Vertebral segmentation anomaly / hemivertebrae
- Webbed neck / pterygium colli

Frequent
- Anomalies of the ribs
- Congenital torticolli
- Hearing loss / hypoacusia / deafness
- Narrow / sloping shoulders
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Anus ectopia / anteposition / malposition
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Cranial nerve anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Sacro-coccyx / sacrum anomaly
- Spina bifida
- Ventricular septal defect / interventricular communication