ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

4 OMIM references -
1 associated gene
6 signs/symptoms

Ehlers-Danlos syndrome with periventricular heterotopia

Chronic intestinal pseudoobstruction

FLNA

Citations in the biomedical literature:

Ehlers-Danlos syndrome with periventricular heterotopia		Chronic intestinal pseudoobstruction
	Synonym(s): - EDS with periventricular heterotopia		Synonym(s): - CIPO

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): (no data available)

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

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

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Gastric / pyloric stenosis - Patent ductus arteriosus - Structural anomalies of the nervous system

Ehlers-Danlos syndrome with periventricular heterotopia		Chronic intestinal pseudoobstruction
	Very frequent - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - Scoliosis - X-linked dominant inheritance Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Thin skin Occasional - Aortic root dilatation / dilation / aneurysm - Patella dislocation - Shoulder dislocation		Very frequent - Intestinal / colonic anomaly Frequent - Intestinal / gut / bowel malrotation Occasional - Platelets shape anomalies