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Disease Profile

CHILD syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome

Categories

Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases;

Summary

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]

Symptoms

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
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
Small thyroid gland
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

Diagnosis

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.

Organizations

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

    Learn more

    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

    • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
    • Genetics Home Reference (GHR) contains information on CHILD syndrome. This website is maintained by the National Library of Medicine.
    • 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.

        References

        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.