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Stiff skin syndrome

2 OMIM references -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Spondylocarpotarsal synostosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

Stiff skin syndrome

Spondylocarpotarsal synostosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN1	(0.63)	FLNB

Citations in the biomedical literature:

Stiff skin syndrome		Spondylocarpotarsal synostosis
	Synonym(s): (no synonyms)		Synonym(s): - Synspondylism

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: childhood Average age of death: normal Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Restricted joint mobility / joint stiffness / ankylosis - Sensorineural deafness / hearing loss

Stiff skin syndrome		Spondylocarpotarsal synostosis
	Very frequent - Autosomal dominant inheritance - Dermal / subcutaneous infiltration / induration - 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 - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Strabismus / squint - Subcutaneous nodules / lipomas / tumefaction / swelling - Urinary / renal lithiasis / kidney stones / nephritic colic		Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys