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Isolated ectopia lentis
3 OMIM references -
2 associated genes
39 connected diseases
11 signs/symptoms
Disease Type of connection
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Supravalvular aortic stenosis
Williams syndrome
Lethal arteriopathy syndrome due to FBLN4 deficiency
Congenital glaucoma
Juvenile glaucoma
Wagner disease
Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive spastic paraplegia type 30
Boomerang dysplasia
CATSPER1-related non syndromic male infertility
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy type 2
Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
Spinocerebellar ataxia type 7
Spondylocarpotarsal synostosis
Synpolydactyly type 2
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Schwartz-Jampel syndrome
Synonym(s):
- Ectopia lentis syndrome
- Familial ectopia lentis
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
2 MeSH references: C536184 / D004479
Gene symbol UniProt reference OMIM reference
ADAMTSL4 Q6UY14610113
FBN1 P35555134797
Very frequent
- Autosomal dominant inheritance
- Lens dislocation / luxation / subluxation / ectopia lentis
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Depressed premaxillary region / midface
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Prognathism / prognathia

Occasional
- Cataract / lens opacification
- Chronic arterial hypertension
- Nystagmus
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Visual loss / blindness / amblyopia