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Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1

Limited cutaneous systemic sclerosis

6 associated genes
19 signs/symptoms

Frontometaphyseal dysplasia

Limited cutaneous systemic sclerosis

FLNA	(UniProt - OMIM)		CAV1	(UniProt - OMIM)
			CCR6	(UniProt - OMIM)
			CTGF	(UniProt - OMIM)
			HLA-DRB1	(UniProt - OMIM)
			IRF5	(UniProt - OMIM)
			KIAA0319L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.52)	CAV1

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Limited cutaneous systemic sclerosis
	Synonym(s): (no synonyms)		Synonym(s): - Limited cutaneous systemic scleroderma

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare renal disease - Rare respiratory disease - Rare skin disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: adult Type of inheritance: sporadic

	External references: 1 OMIM reference - 1 MeSH reference: C538064		External references: No OMIM references No MeSH references

Frontometaphyseal dysplasia		Limited cutaneous systemic sclerosis
	Very frequent - Bowed diaphysis / diaphyses / long bones - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Diaphyseal anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Frontal sinus agenesis / anomaly - Hypertelorism - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Restricted joint mobility / joint stiffness / ankylosis - Tooth shape anomaly - X-linked recessive inheritance Frequent - Abnormal vertebral size / shape - Advanced bone age - Carpal bones fusion / synostosis - Conductive deafness / hearing loss - Elbow dislocation - High vaulted / narrow palate - Long hand / arachnodactyly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Scoliosis - Sensorineural deafness / hearing loss - Thumb hypoplasia / aplasia / absence - Ulnar deviation of fingers Occasional - Atrioventricular canal - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Larynx / laryngeal stenosis / atresia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Tracheal atresia / stenosis - Ureteral stenosis / narrowing - Urethral anomalies / stenosis / posterior urethral valves / megalocystis		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of skin, subcutaneous tissue and mucosae - Autoimmunity / autoimmune reaction / autoantibodies - Dermal / subcutaneous infiltration / induration - Dry / squaly skin / exfoliation - Irregular / patchy skin hypopigmentation Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Periarticular tissue anomaly / extraarticular calcifications - Telangiectasiae of mucosae - Telangiectasiae of the skin Occasional - Claw hand / retracted fingers - Claw toes / retracted toes - Lung fibrosis - Musculo-tendinous retractions - Pulmonary hypertension