Child Syndrome malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases, Cancer diseases
Aliases & Descriptions for Child Syndrome:
Orphanet epidemiological data:51
Inheritance: Not applicable,X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases, Cancer diseases
Anatomical: Bone diseases, Skin diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 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 development of organs such as the brain, heart, lungs, and kidneys may also be affected. several cases in which milder signs and symptoms have been reported in the medical literature. 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. last updated: 1/28/2010
MalaCards based summary: Child Syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is related to endocrine gland cancer and greenberg skeletal dysplasia, and has symptoms including congenital ichthyosiform erythroderma, asymmetric growth and cognitive impairment. An important gene associated with Child Syndrome is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), and among its related pathways are Terpenoid backbone biosynthesis and cholesterol biosynthesis II (via 24,25-dihydrolanosterol). Affiliated tissues include bone, bone marrow and lung, and related mouse phenotypes are vision/eye and growth/size/body region.
UniProtKB/Swiss-Prot:67 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
Genetics Home Reference:23 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.
OMIM:49 CHILD syndrome is an acronym for an X-linked dominant disorder characterized by congenital hemidysplasia with... (308050) more...
Diseases related to Child Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of diseases related to Child Syndrome:
Symptoms by clinical synopsis from OMIM:308050
Clinical features from OMIM:308050
Symptoms:51 (show all 44)
HPO human phenotypes related to Child Syndrome:(show all 66)
Drugs for Child Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 1241)
Interventional clinical trials:(show top 50) (show all 5000)
Search NIH Clinical Center for Child Syndrome
MalaCards organs/tissues related to Child Syndrome:33
Bone, Bone marrow, Lung, Heart, Myeloid, Brain, T cells
Articles related to Child Syndrome:(show all 44)
UniProtKB/Swiss-Prot genetic disease variations for Child Syndrome:67
Clinvar genetic disease variations for Child Syndrome:5 (show all 15)
Search GEO for disease gene expression data for Child Syndrome.
Pathways related to Child Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet