ODCs

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1 OMIM reference -
1 associated gene
4 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

2 OMIM references -
1 associated gene
24 signs/symptoms

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

Stiff skin syndrome

FBN1

Citations in the biomedical literature:

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Stiff skin syndrome
	Synonym(s): - Gemss syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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


COMMON SIGNS	- Autosomal dominant inheritance - Glaucoma - Short stature / dwarfism / nanism

Glaucoma - ectopia - microspherophakia - stiff joints - short stature		Stiff skin syndrome
	Very frequent - Lens dislocation / luxation / subluxation / ectopia lentis		Very frequent - 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 - 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 - Skin hypoplasia / aplasia / atrophy - Strabismus / squint - Subcutaneous nodules / lipomas / tumefaction / swelling - Urinary / renal lithiasis / kidney stones / nephritic colic