PedAM
Pediatric Disease Annotations & Medicines
| cutis marmorata telangiectatica congenita | ||||
| Disease ID | 1332 |
|---|---|
| Disease | cutis marmorata telangiectatica congenita |
| Definition | The symptoms of CMTC are present at birth (congenital). Affected infants have discolored patches of skin caused by widened (dilated) surface blood vessels (livedoreticularistelangiectases). The affected areas of skin have a marbled or fishnet appearance (cutis marmorata). In most cases, skin abnormalities affect the arms and legs (limbs), although the trunk may also be involved. Facial involvement is very rare. The skin symptoms associated with classical CMTC improve with age and usually disappear completely around puberty. Atrophic patches may remain. The soft tissue hypoplasia can likewise remain present, in particular if muscles are affected. This has no consequences for normal functionality. In an affected leg, the greater saphenous vein may be too wide. It is not yet known whether this will lead to venous insufficiency later in life.A plethora of associated abnormalities have been reported. However, careful evaluation of these and more recent cases strongly suggests that the skin abnormalities in these patients are not CMTC but capillary malformations. These can be associated with several syndromic disorders. The ones most commonly mistaken for CMTC variants are Klippel-Trenaunay syndrome, Cowden's disease and M-CM. Rarely, Adams-Oliver and Proteus(-like) syndromes underlie the vascular abnormalities. - NORD Reference: NORD |
| Synonym | cmtc cmtc - cutis marmorata telangiectatica congenita congenital livedo reticularis congenital livedo reticularis (disorder) cutis marmorata telangiectasia congenita hereditary cutis marmorata telangiectatica congenita van lohuizen's syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0345419 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1332 |
|---|---|
| Disease | cutis marmorata telangiectatica congenita |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:39) HP:0002817 | Abnormality of the upper limb HP:0001009 | Telangiectases HP:0002979 | Bowing of the legs HP:0000965 | Livedo reticularis HP:0000979 | Purpura HP:0000555 | Leukocoria HP:0100585 | Telangiectasia of the skin HP:0000951 | Abnormality of the skin HP:0005306 | Capillary hemangiomas HP:0100545 | Arterial stenosis HP:0006101 | Finger syndactyly HP:0000347 | Micrognathia HP:0200041 | Skin erosion HP:0000822 | Hypertension HP:0000501 | Glaucoma HP:0000541 | Retinal detachment HP:0001250 | Seizures HP:0006385 | Short lower limbs HP:0100543 | Cognitive impairment HP:0000003 | Multicystic kidney dysplasia HP:0001933 | Subcutaneous hemorrhage HP:0100026 | Arteriovenous malformation HP:0006385 | Short legs HP:0000202 | Oral cleft HP:0001770 | Toe syndactyly HP:0007565 | Multiple cafe-au-lait spots HP:0100814 | Blue nevus HP:0000821 | Hypothyroidism HP:0001541 | Ascites HP:0008065 | Aplasia/Hypoplasia of the skin HP:0000541 | Detached retina HP:0001643 | Patent ductus arteriosus HP:0001511 | Intrauterine growth retardation HP:0002650 | Scoliosis HP:0004349 | Reduced bone mineral density HP:0100555 | Asymmetric growth HP:0000965 | Cutis marmorata HP:0100627 | Displacement of the external urethral meatus HP:0002814 | Abnormality of the lower limb |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1332 |
|---|---|
| Disease | cutis marmorata telangiectatica congenita |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:1) | |||||||||
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| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0345419 | phenytoin | D010672 | 57-41-0 | cutis marmorata telangiectatica congenita | MESH:C536226 | marker/mechanism | 1163515 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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