ODCs

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Autosomal dominant Larsen syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Stiff skin syndrome

2 OMIM references -
1 associated gene
24 signs/symptoms

Autosomal dominant Larsen syndrome

Stiff skin syndrome

FLNB

(UniProt - OMIM)

FBN1

(UniProt - OMIM)


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

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome		Stiff skin syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal 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 - Short stature / dwarfism / nanism

Autosomal dominant Larsen syndrome		Stiff skin syndrome
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal recessive inheritance - Broad / bifid thumb - Depressed nasal bridge - Depressed premaxillary region / midface - Flat face - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Joint dislocation / subluxation - Long hand / arachnodactyly - Short hand / brachydactyly Frequent - Wrist / carpal anomalies Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Epiphyseal anomaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Structural anomalies of the cardio-circulatory system - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae		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 - 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 - Skin hypoplasia / aplasia / atrophy - Strabismus / squint - Subcutaneous nodules / lipomas / tumefaction / swelling - Urinary / renal lithiasis / kidney stones / nephritic colic