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
Little lower jaw
Small lower jaw[ more ]
Underdeveloped lung[ more ]
Absent/underdeveloped kidney[ more ]
Abnormal curving of the spine
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|
|Abnormal cardiac septum morphology||0001671|
|Cleft upper lip||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|Mild intrauterine growth retardation||0008883|
Missing kidney[ more ]
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 X-linked dominant chondrodysplasia punctata, linear nevus sebaceous syndrome and inflammatory linear verrucous epidermal nevus (see these terms).
Visit the Orphanet disease page for more information.
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.
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. 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