National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

CHILD syndrome


Other Names:
Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome
Categories:
CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The symptoms normally occur on one side of the body. The development of organs such as the brain, heart, lungs, and kidneys may also be affected.[1][2]  Several cases in which milder signs and symptoms have been reported in the medical literature.[1] The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.[2] 

CHILD syndrome is diagnosed based on the symptoms and through genetic testing. There is no specific treatment for CHILD syndrome, but topical creams that include a cholesterol inhibitor have been reported to improve the skin symptoms in a few patients. CHILD syndrome is very rare and less than 30 cases have been reported in the literature.[1] 
Last updated: 4/19/2019

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.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Congenital ichthyosiform erythroderma 0007431
80%-99% of people have these symptoms
Aplasia/hypoplasia of the extremities
Absent/small extremities
Absent/underdeveloped extremities
[ more ] 		0009815
Epiphyseal stippling
Speckled calcifications in end part of bone
0010655
30%-79% of people have these symptoms
Abnormality of the nail 0001597
Hyperkeratosis 0000962
Parakeratosis 0001036
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Adrenal hypoplasia
Small adrenal glands
0000835
Alopecia
Hair loss
0001596
Aplasia/Hypoplasia involving the central nervous system
Absent/underdeveloped central nervous system tissue
0002977
Congenital hip dislocation
Dislocated hip since birth
0001374
Elevated 8(9)-cholestenol 0003465
Elevated 8-dehydrocholesterol 0003462
Flexion contracture
Flexed joint that cannot be straightened
0001371
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hypoplastic pelvis 0008839
Hypoplastic scapulae
Small shoulder blade
0000882
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ] 		0008678
Scoliosis 0002650
Short clavicles
Short collarbone
0000894
Short ribs 0000773
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Thyroid hypoplasia 0005990
Vertebral hypoplasia
Underdeveloped vertebrae
0008417
1%-4% of people have these symptoms
Stillbirth
Stillborn
0003826
Percent of people who have these symptoms is not available through HPO
Abnormal cardiac septum morphology 0001671
Cleft upper lip
Harelip
0000204
Erythema 0010783
Hydronephrosis 0000126
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Mild intrauterine growth retardation 0008883
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Single ventricle 0001750
Umbilical hernia 0001537
X-linked dominant inheritance 0001423
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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.

Healthcare Resources

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.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to CHILD syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with CHILD syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for CHILD syndrome:
    The National Registry for Ichthyosis & Related Skin Disorders
     

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.

Organizations Supporting this 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.

Where to Start

  • Genetics Home Reference (GHR) contains information on CHILD syndrome. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss CHILD syndrome. Click on the link to view a sample search on this topic.

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.

  1. Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW.. CHILD Syndrome: Case report of a Chinese patient and Literature review of NAD[P]H steroid dehydrogenase-like protein gene mutation. Ped Derm. 2015; 32(6):e277-e282. https://www.ncbi.nlm.nih.gov/pubmed/26459993.
  2. du Souich, C. Raymond, FL, Grzeschik, K-H, and Boerkoel, CF. NSDHL-Related Disorders. GeneReviews. Updated Oct 25, 2018; https://www.ncbi.nlm.nih.gov/books/NBK51754/.
  3. Berggvist C, Abdallah B, Hasbani DJ, Abbas O, Kibbi AG, Hamie L, Kurban M, Rubeiz N. CHILD syndrome: A modified pathogenesis-targeted therapeutic approach. Am J Med Genet. Mar 2018; 176(3):733-738. https://ncbi.nlm.nih.gov/pubmed/29392821.