ODCs

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Congenital contractural arachnodactyly

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Geleophysic dysplasia

2 OMIM references -
2 associated genes
44 signs/symptoms

Congenital contractural arachnodactyly

Geleophysic dysplasia

FBN2	(UniProt - OMIM)		ADAMTSL2	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN2	(0.62)	FBN1

Citations in the biomedical literature:

Congenital contractural arachnodactyly		Geleophysic dysplasia
	Synonym(s): - Beals syndrome - Beals-Hecht syndrome - CCA syndrome - Distal arthrogryposis type 9		Synonym(s): - Geleophysic dwarfism

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536211		External references: 2 OMIM references - 1 MeSH reference: C537677


COMMON SIGNS	- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Restricted joint mobility / joint stiffness / ankylosis

Congenital contractural arachnodactyly		Geleophysic dysplasia
	Very frequent - Arthrogryposis - Autosomal dominant inheritance - Camptodactyly of fingers - Contractures / cramps / trismus / tetania / claudication / opisthotonos - External ear anomalies - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - High vaulted / narrow palate - Kyphosis - Long hand / arachnodactyly - Long limbs / dolichostenomelia - Muscle anomalies - Scoliosis Frequent - Marfanoid morphotype Occasional - Aortic dilatation / dilation - Congenital cardiac anomaly / malformation / cardiopathy - Duodenal atresia / stenosis / megaduodenum - Intestinal / gut / bowel malrotation - Lens dislocation / luxation / subluxation / ectopia lentis - Tracheo-esophageal fistula / esophageal atresia / stenosis		Very frequent - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Cardiac valvulopathy - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hypertelorism - Long philtrum - Metacarpal anomalies / Archibald's sign - Philtrum flat / large / featureless / absent cupidon bows - Round face - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Thin / retracted lips Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Atrial septal defect / interauricular communication - Blepharophimosis / short palpebral fissures - Broad nose / nasal bridge - Chronic / relapsing otitis - Death in infancy - Epiphyseal anomaly - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Intrauterine growth retardation - Mitral valve atresia / stenosis / narrowing - Platyspondyly - Repeat respiratory infections - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Round ear - Short limbs / micromelia / brachymelia - Thick skin / pachydermia / orange skin - tricuspid valve atresia / stenosis / narrowing Occasional - Apnea / sleep apnea - Intellectual deficit / mental / psychomotor retardation / learning disability - Larynx / laryngeal stenosis / atresia - Pulmonary hypertension - Tracheal atresia / stenosis