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||
Absent/underdeveloped 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
Mental impairment[ more ]
|Displacement of the external 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
Abnormal curving of the spine
Webbed toes[ 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|
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.