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Knobloch syndrome
1 OMIM reference -
1 associated gene
15 connected diseases
25 signs/symptoms
Disease Type of connection
Familial capillary hemangioma
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Joubert syndrome with ocular defect
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Biliary atresia
Simpson-Golabi-Behmel syndrome
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
Synonym(s):
- Knobloch-Layer syndrome
- Retinal detachment - occipital encephalocele
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
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 recessive
External references:
1 OMIM reference -
1 MeSH reference: C537209
Gene symbol UniProt reference OMIM reference
COL18A1 P39060120328
Very frequent
- Autosomal recessive inheritance
- 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