The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Congenital ichthyosiform erythroderma||100%|
|Abnormality of bone mineral density||90%|
|Abnormality of the ribs||90%|
|Abnormality of the thyroid gland||90%|
|Amniotic constriction ring||90%|
|Aplasia of the pectoralis major muscle||90%|
|Aplasia/hypoplasia of the extremities||90%|
|Atria septal defect||90%|
|Hypoplastic left heart||90%|
|Upper limb phocomelia||90%|
|Abnormality of the nail||75%|
|Cerebral cortical atrophy||50%|
|Abnormality of cardiovascular system morphology||7.5%|
|Abnormality of epiphysis morphology||7.5%|
|Abnormality of the adrenal glands||7.5%|
|Abnormality of the cranial nerves||7.5%|
|Abnormality of the fingernails||7.5%|
|Abnormality of the heart valves||7.5%|
|Aplasia/Hypoplasia of the lungs||7.5%|
|Congenital hip dislocation||7.5%|
|Intrauterine growth retardation||7.5%|
|Ventricular septal defect||7.5%|
|Aplasia/Hypoplasia involving the central nervous system||5%|
|Abnormality of the cardiac septa||-|
|Cleft upper lip||-|
|Intellectual disability, mild||-|
|Mild intrauterine growth retardation||-|
|X-linked dominant inheritance||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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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