ODCs

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Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

Waardenburg syndrome type 1

1 OMIM reference -
1 associated gene
31 signs/symptoms

Isolated Klippel-Feil syndrome

Waardenburg syndrome type 1

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


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

Citations in the biomedical literature:

Isolated Klippel-Feil syndrome		Waardenburg syndrome type 1
	Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 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		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Hearing loss / hypoacusia / deafness - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis - Spina bifida

Isolated Klippel-Feil syndrome		Waardenburg syndrome type 1
	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 - Narrow / sloping shoulders Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - 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 - Ventricular septal defect / interventricular communication		Very frequent - Albinism (hair) - Anomalies of ear and hearing - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Decreased hair pigmentation / hypopigmentation of hair - Defect / anomaly of lacrimal system - Eyebrows anomalies - Heterochromia / mixed colouring of iris - Irregular / patchy skin hypopigmentation - Prognathism / prognathia - Short / small nose - Telecanthus / canthal dystopy - White forelock / piebaldism Frequent - Broad nasal root - Hair and scalp anomalies - Premature greying of hair - Synophris / synophrys - Tented upper lip - Thin / hypoplastic ala nasi Occasional - Cleft lip - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Meningocele - Ptosis - Strabismus / squint