cutis marmorata telangiectatica congenita
Findings
No curated finding names cutis marmorata telangiectatica congenita yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.
Definition from the Mondo Disease Ontology (MONDO:0009055), read 2026-09-29. CC BY 4.0.
Features
32 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- Abnormality of the skinHPOHP:0000951
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- Cutis marmorataHPOHP:0000965
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Short lower limbs
Show the remaining 20
- Telangiectasia of the skinHPOHP:0100585
- Frequent (30% to 79% of cases)
- Arterial stenosisHPOHP:0100545
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
- Asymmetric growthHPOHP:0100555
- Occasional (5% to 29% of cases)
- Blue nevusHPOHP:0100814
- Occasional (5% to 29% of cases)
- Capillary hemangiomaHPOHP:0005306
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARL6IP6HGNC:24048
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: cutis marmorata telangiectatica congenita
- Also called
- CMTCcutis marmorata telangiectatica congenita (disease)