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M-CMTC syndrome
What are the symptoms?
In addition, individuals with this condition may have other, more discrete pink/red birth marks (see entry, Vascular Birthmarks), particularly over the upper lip. Other distinctive features include a large head size and webbing between the second and third toes and sometimes between the fingers. Sometimes extra fingers or toes may be present. Whilst cutis marmorata telangiectasia congenita can occur as an isolated finding, only individuals with the other, additional features can be said to have the M-CMTC syndrome.
Cutis Marmorata Telangiectasia Congenita syndrome (CMTCS) can appear in isolation or with other features which are not part of the M-CMTC syndrome. In some cases this is felt to be part of the Klippel Trenaunay syndrome/Sturge-Weber syndrome spectrum.
Babies with M-CMTC syndrome often have a high birth weight and the pregnancy may have been complicated by the presence of excess amniotic fluid or premature delivery. It is common for children with this condition to have low muscle tone and as a consequence there may be initial difficulties with feeding.
Although large at birth, children with M-CMTC syndrome usually have normal growth in later childhood. It is also common to have one side of the body which is slightly larger than the other (hemihypertrophy). The head size continues to be large, and occasionally surgery will be recommended to drain fluid from the brain. An MRI scan may reveal characteristic appearances. In many children, although the head is larger than average, growth stabilises and no treatment is needed. The marbled appearance of the skin tends to get less obvious with time.
There are other, rarer complications of M-CMTC syndrome which include heart problems, seizures, internal blood vessel malformations and developmental abnormalities of the brain. These are not present in every patient.
Children with M-CMTC syndrome are often slow to learn to sit and walk because they have low muscle tone and very mobile joints. Many children with M-CMTC learn at a slower rate than normal but the condition is extremely variable, and whilst some children will need a lot of extra help, others will be very mildly affected.
Very occasionally a child with M-CMTC will be born with a life threatening complication. The majority of children, however, have good general health. The condition is much more difficult to recognise in adulthood but some adults with this condition have been described.
Background
| Inheritance patterns and prenatal diagnosis 
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