Cutis marmorata telangiectatica congenita
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
CMTC; Hereditary cutis marmorata telangiectatica congenita; Van Lohuizen syndrome
Blood Diseases; Congenital and Genetic Diseases; Skin Diseases
Cutis marmorata telangiectatica congenita (CMTC) is a
CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (non
CMTC is generally present at birth (
• Red or purple marbled looking patches of skin that don’t respond to warmth (cutis marmorata)
• Clusters of blood vessels visible under the skin (telangiectasia)
• Skin ulcers (open sores)
• Limb size discrepancy
The skin findings are usually seen in on part of the skin on the lower limbs, but can be on upper limbs or trunk, and less often, on the face. CMTC is usually confined to one part of the skin, on one limb, or on one side of the body. In rare cases, CMTC covers the whole body. The skin symptoms of CMTC typically get better over time and there are no known long-term complications of this condition.
CMTC can also be found associated with other
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of the upper limb||0002817|
|Short lower limbs||
|30%-79% of people have these symptoms|
|Aplasia/Hypoplasia of the skin||
[ more ]
|Telangiectasia of the skin||0100585|
|5%-29% of people have these symptoms|
Narrowing of an artery
Accumulation of fluid in the abdomen
Uneven or disproportionate growth of one body part compared to another
Abnormality of cognition
[ more ]
|Displacement of the urethral meatus||0100627|
|Intrauterine growth retardation||
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
Little lower jaw
Small lower jaw
[ more ]
|Multicystic kidney dysplasia||0000003|
|Multiple cafe-au-lait spots||0007565|
Cleft of the mouth
|Patent ductus arteriosus||0001643|
Red or purple spots on the skin
|Reduced bone mineral density||
Low solidness and mass of the bones
[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Bowing of the legs||
Bowed lower limbs
[ more ]
|Cutis marmorata telangiectatica congenita||0025107|
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Klippel-Trénaunay syndrome, Sturge-Weber syndrome, Bockenheimer syndrome, some port-wine stain capillary malformations, and macrocephaly-CMTC (see these terms). Persistence of skin changes with local warming distinguishes CMTC from physiological cutis marmorata.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cutis marmorata telangiectatica congenita. Click on the link to view a sample search on this topic.
- Schwartz RA, Zalewska A, Erdal E, and Onder M.. Cutis Marmorata Telangiectatica Congenita. Medscape Reference. Updated May 14, 2018; https://emedicine.medscape.com/article/1086221-overview.
- Shareef S, Horowitz D. Cutis marmorata telangiectatica congenita. StatPearls. 2019; https://www.ncbi.nlm.nih.gov/books/NBK534799.
- van Steensel M. Cutis marmorata telangiectatica congenita. National Organization for Rare Disorders (NORD). May 21 2015; https://rarediseases.org/rare-diseases/cutis-marmorata-telangiectatica-congenita/.
- Jia D, Rajadural VS, Chandran S. Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation. BMJ Case Rep. Oct. 7, 2018; 2018:https://www.ncbi.nlm.nih.gov/pubmed/30297497.
- Cutis marmorata telangiectatica congenita. On-line Mendelian Inheritance in Man. Updated 11/26/2018; https://www.omim.org/entry/219250.