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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cutis marmorata telangiectatica congenita


Other Names for this Disease

  • CMTC
  • Hereditary cutis marmorata telangiectatica congenita
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of cutis marmorata telangiectatica congenita?

In most cases, the symptoms of CMTC are present at birth (congenital). The most noticeable change occurs during the first year of life. Affected infants usually have discolored patches of skin caused by widened (dilated) surface blood vessels. The affected areas of skin have a "marbled" or "fishnet" appearance (cutis marmorata). In most cases, the skin abnormalities affect the arms and legs, although the trunk may also be involved. The skin symptoms usually improve with age and disappear completely around puberty. The soft tissue hypoplasia can likewise remain present, in particular if muscles are affected. This has no consequences for normal functionality.[1]
Last updated: 5/25/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Cutis marmorata telangiectatica congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Arteriovenous malformation 90%
Cutis marmorata 90%
Seizures 90%
Skin ulcer 90%
Aplasia/Hypoplasia of the skin 50%
Retinal detachment 50%
Teleangiectasia of the skin 50%
Arterial stenosis 7.5%
Ascites 7.5%
Asymmetric growth 7.5%
Blue nevus 7.5%
Cafe-au-lait spot 7.5%
Cognitive impairment 7.5%
Displacement of the external urethral meatus 7.5%
Finger syndactyly 7.5%
Hypothyroidism 7.5%
Intrauterine growth retardation 7.5%
Melanocytic nevus 7.5%
Micrognathia 7.5%
Multicystic kidney dysplasia 7.5%
Oral cleft 7.5%
Patent ductus arteriosus 7.5%
Reduced bone mineral density 7.5%
Scoliosis 7.5%
Subcutaneous hemorrhage 7.5%
Toe syndactyly 7.5%
Autosomal recessive inheritance -
Bowing of the legs -
Glaucoma -
Hypertension -
Leukocoria -
Short lower limbs -
Telangiectasia -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Cutis marmorata telangiectatica congenita. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1000/viewAbstract. Accessed 5/25/2011.


Other Names for this Disease
  • CMTC
  • Hereditary cutis marmorata telangiectatica congenita
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.