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Stiff skin syndrome
2 OMIM references -
1 associated gene
31 connected diseases
24 signs/symptoms
Disease Type of connection
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg 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
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Hereditary sensorimotor neuropathy with hyperelastic skin
Spinocerebellar ataxia type 7
Spondylocarpotarsal synostosis
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Schwartz-Jampel syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
FBN1 P35555134797
Very frequent
- Autosomal dominant inheritance
- Dermal / subcutaneous infiltration / induration
- Restricted joint mobility / joint stiffness / ankylosis
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Occasional
- Abnormal fat distribution / lipodystrophy
- Chronic arterial hypertension
- 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