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||
|100% of people have these symptoms|
|80%-99% of people have these symptoms|
|Aplasia/hypoplasia of the extremities||
Absent/underdeveloped extremities[ more ]
Speckled calcifications in end part of bone
|30%-79% of people have these symptoms|
|Abnormality of the nail||0001597|
|5%-29% of people have these symptoms|
|Abnormality of cardiovascular system morphology||0030680|
Small adrenal glands
|Aplasia/Hypoplasia involving the
Absent/underdeveloped central nervous system tissue
|Congenital hip dislocation||
Dislocated hip since birth
Hearing defect[ more ]
Small shoulder blade
Underdeveloped lung[ more ]
Absent/underdeveloped kidney[ more ]
Decreased body height
Small stature[ more ]
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the cardiac septa||0001671|
|Cleft upper lip||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|Mild intrauterine growth retardation||0008883|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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. Submit a new question
I was told at birth that I had ichthyosis and that I was supposed to be twin because there was a demarcation in the middle of my body with the skin on the right side scaly. However, I have done some reading and came across CHILD syndrome and am wondering whether there are degrees of this syndrome. I do not think I have any abnormalities of any organs and my limbs are not deformed. However, I do have some balding on my head on the right side. Can a person with CHILD Syndrome have normal organs and limbs but have the skin and development issues? See answer