Angioosteohypertrophic syndrome

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 42

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000501 Glaucoma Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0000965 Cutis marmorata Very frequent (99-80%)
HP:0000995 Melanocytic nevus Very frequent (99-80%)
HP:0001048 Cavernous hemangioma Very frequent (99-80%)
HP:0001180 Hand oligodactyly Very frequent (99-80%)
HP:0001626 Abnormality of the cardiovascular system Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0005293 Venous insufficiency Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0100554 Hemihypertrophy of upper limb Very frequent (99-80%)
HP:0100729 Large face Very frequent (99-80%)
HP:0100761 Visceral angiomatosis Very frequent (99-80%)
HP:0200042 Skin ulcer Very frequent (99-80%)
HP:0001012 Multiple lipomas Frequent (79-30%)
HP:0001161 Hand polydactyly Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001528 Hemihypertrophy Frequent (79-30%)
HP:0001704 Tricuspid valve prolapse Frequent (79-30%)
HP:0001928 Abnormality of coagulation Frequent (79-30%)
HP:0002239 Gastrointestinal hemorrhage Frequent (79-30%)
HP:0100543 Cognitive impairment Frequent (79-30%)
HP:0000098 Tall stature Occasional (29-5%)
HP:0000140 Abnormality of the menstrual cycle Occasional (29-5%)
HP:0000324 Facial asymmetry Occasional (29-5%)
HP:0000790 Hematuria Occasional (29-5%)
HP:0001004 Lymphedema Occasional (29-5%)
HP:0001635 Congestive heart failure Occasional (29-5%)
HP:0002204 Pulmonary embolism Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002597 Abnormality of the vasculature Occasional (29-5%)
HP:0002653 Bone pain Occasional (29-5%)
HP:0002814 Abnormality of the lower limb Occasional (29-5%)
HP:0004099 Macrodactyly Occasional (29-5%)
HP:0004936 Venous thrombosis Occasional (29-5%)
HP:0007481 Hyperpigmented nevi Occasional (29-5%)
HP:0100553 Hemihypertrophy of lower limb Occasional (29-5%)
HP:0100585 Telangiectasia of the skin Occasional (29-5%)
HP:0100658 Cellulitis Occasional (29-5%)
HP:0100784 Peripheral arteriovenous fistula Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID