ODCs

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Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Otofaciocervical syndrome

2 OMIM references -
2 associated genes
22 signs/symptoms

Isolated Klippel-Feil syndrome

Otofaciocervical syndrome

GDF3	(UniProt - OMIM)	EYA1	(UniProt - OMIM)
GDF6	(UniProt - OMIM)	PAX1	(UniProt - OMIM)
MEOX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MEOX1	(0.84)	PAX1

Citations in the biomedical literature:

Isolated Klippel-Feil syndrome		Otofaciocervical syndrome
	Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence		Synonym(s): - Fara-Chlupackova syndrome - OFC syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: (no data available)

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Agenesis / hypoplasia / aplasia of kidneys - Autosomal dominant inheritance - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Intellectual deficit / mental / psychomotor retardation / learning disability - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly

Isolated Klippel-Feil syndrome		Otofaciocervical syndrome
	Very frequent - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - 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 - Scoliosis Occasional - 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 - Sacro-coccyx / sacrum anomaly - Spina bifida - Ventricular septal defect / interventricular communication		Very frequent - Abnormal dermatoglyphics - Anteverted nares / nostrils - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Broad cheeks / cherub-like / cherubin face - Clavicle absent / abnormal - Conductive deafness / hearing loss - Depressed nasal bridge - High vaulted / narrow palate - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Long / large ear - Prominent / bat ears - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Antihelix anomaly - Delayed bone age Occasional - External auditory canal atresia / stenosis / agenesis