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2 OMIM references -
1 associated gene
24 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
3 OMIM references -
2 associated genes
11 signs/symptoms
Stiff skin syndrome
Isolated ectopia lentis

FBN1 ADAMTSL4
FBN1


COMMON
GENES
FBN1



Citations in the biomedical literature:


Stiff skin syndrome
FBN1
Isolated ectopia lentis
ADAMTSL4



Stiff skin syndrome
Isolated ectopia lentis

Synonym(s):
(no synonyms)

Synonym(s):
- Ectopia lentis syndrome
- Familial ectopia lentis

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
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:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
2 MeSH references: C536184 / D004479


COMMON
SIGNS
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Restricted joint mobility / joint stiffness / ankylosis


Stiff skin syndrome
Isolated ectopia lentis

Very frequent
- Dermal / subcutaneous infiltration / induration
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Occasional
- Abnormal fat distribution / lipodystrophy
- Glaucoma
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insensitivity to pain
- Insulin-independent / type 2 diabetes
- Lipoatrophy
- Mid-facial hypoplasia / short / small midface
- Muscle anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Peripheral neuropathy
- Retinal detachment
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Strabismus / squint
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Urinary / renal lithiasis / kidney stones / nephritic colic


Very frequent
- Lens dislocation / luxation / subluxation / ectopia lentis

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

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