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Knobloch syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Torg-Winchester syndrome

2 OMIM references -
2 associated genes
22 signs/symptoms

Knobloch syndrome

Torg-Winchester syndrome

COL18A1	(UniProt - OMIM)		MMP14	(UniProt - OMIM)
			MMP2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL18A1	(0.71)	MMP2

Citations in the biomedical literature:

Knobloch syndrome		Torg-Winchester syndrome
	Synonym(s): - Knobloch-Layer syndrome - Retinal detachment - occipital encephalocele		Synonym(s): - Winchester syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537209		External references: 2 OMIM references - 1 MeSH reference: C536051


COMMON SIGNS	- Autosomal recessive inheritance

Knobloch syndrome		Torg-Winchester syndrome
	Very frequent - Encephalocele / exencephaly - Macular dystrophy / absence / hypoplasia of the macula - Myopia - Retinal detachment - Scalp / skull defect Frequent - Hydrocephaly - Nystagmus - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Occasional - Cataract / lens opacification - Depressed nasal bridge - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Epicanthic folds - Gastric / pyloric stenosis - Hair and scalp anomalies - Hyperextensible joints / articular hyperlaxity - Lens dislocation / luxation / subluxation / ectopia lentis - Lymphangioma / lymphatic malformations - Mid-facial hypoplasia / short / small midface - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter - Vesicorenal / vesicoureteral reflux		Very frequent - Arthritis / synovitis / synovial proliferation - Claw hand / retracted fingers - Epiphyseal anomaly - Metaphyseal anomaly - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis - Wrist / carpal anomalies Frequent - Coarse face - Corneal clouding / opacity / vascularisation - Frontal bossing / prominent forehead - Hirsutism / hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Long / large / bulbous nose - Thick lips - Thick skin / pachydermia / orange skin - Thickened / hypertrophic / fibromatous gingivae Occasional - Atrial septal defect / interauricular communication - Subcutaneous nodules / lipomas / tumefaction / swelling