ODCs

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Craniofacial-deafness-hand syndrome

1 OMIM reference -
1 associated gene
17 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

Craniofacial-deafness-hand syndrome

Isolated Klippel-Feil syndrome

PAX3	(UniProt - OMIM)	GDF3	(UniProt - OMIM)
		GDF6	(UniProt - OMIM)
		MEOX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX3	(0.84)	MEOX1

Citations in the biomedical literature:

Craniofacial-deafness-hand syndrome		Isolated Klippel-Feil syndrome
	Synonym(s): - CDHS - Sommer-Young-Wee-Frye syndrome		Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare bone disease - 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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: 1 OMIM reference - 1 MeSH reference: C536453		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Craniofacial-deafness-hand syndrome		Isolated Klippel-Feil syndrome
	Very frequent - Blepharophimosis / short palpebral fissures - Defect / anomaly of lacrimal system - Depressed nasal bridge - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat face - Flattened nose - Hypertelorism - Microstomia / little mouth - Narrow face - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Sensorineural deafness / hearing loss - Short / small nose - Ulnar deviation of fingers - Wrist / carpal anomalies Frequent - Camptodactyly of some fingers		Very frequent - Anomalies of spine, vertebrae and pelvis - 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