{"Name":"Child syndrome","DiseaseID__c":"GARD:0006039","id":6039,"encodedName":"child-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Child syndrome","Xref_IDs__c":"17608003; C0265267; C562515; DOID:0111822; MEDGEN:82697; MONDO:0010621; OMIM:308050; ORPHA:139","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010621","Disease_Description__c":"A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.","GARD_Name__c":"Child syndrome","GARD_Synonym__c":"child (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome; child nevus; child syndrome, x-linked dominant; congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome; congenital hemidysplasia with ichthyosiform nevus and limbs defects; ichthyosis, child syndrome","Curated_Disease_Description_Source__c":"GARD:0006039","Curated_Disease_Description__c":"CHILD syndrome is a condition that affects the development of several parts of the body. The name of the condition is an acronym of the major features: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The signs and symptoms of this disorder may vary from person to person, but they are typically limited to only one side of the body ('hemi-' means 'half,' and 'dysplasia' refers to abnormal growth). The right side of the body is affected more often than the left side. People with CHILD syndrome often have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with yellow, flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are typically present at birth or appear within the first few weeks of life and may improve with time.  CHILD syndrome may also disrupt the formation of the arms and legs during early development. Some children with this disorder have shortened bones in the fingers or toes, while others have shortened or missing limbs. The limb abnormalities typically occur on the same side of the body as the skin abnormalities.  Some children have a curvature of the spine (scoliosis) or joint deformities that restrict movement (contractures). In some cases, CHILD syndrome affects the development of the brain, heart, lungs, and kidneys.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:139","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010621","ORPHANET_ID__c":"ORPHA:139","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome child","Spanish_Description_Source__c":"ORPHA:139","Spanish_Description__c":"Es un trastorno poco frecuente del desarrollo durante la embriogénesis caracterizado por lesiones cutáneas unilaterales descamativas e inflamatorias con anomalías viscerales y de las extremidades ipsilaterales.","Spanish_Disease_Name__c":"síndrome child","Spanish_GARD_Synonym__c":"hemidisplasia congénita con eritrodermia ictiosiforme y defectos en las extremidades; nevo child","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"CHILD syndrome is a condition that affects the development of several parts of the body. The name of the condition is an acronym of the major features: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The signs and symptoms of this disorder may vary from person to person, but they are typically limited to only one side of the body ('hemi-' means 'half,' and 'dysplasia' refers to abnormal growth). The right side of the body is affected more often than the left side. People with CHILD syndrome often have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with yellow, flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and usually does not affect the face. The skin abnormalities are typically present at birth or appear within the first few weeks of life and may improve with time.  CHILD syndrome may also disrupt the formation of the arms and legs during early development. Some children with this disorder have shortened bones in the fingers or toes, while others have shortened or missing limbs. The limb abnormalities typically occur on the same side of the body as the skin abnormalities.  Some children have a curvature of the spine (scoliosis) or joint deformities that restrict movement (contractures). In some cases, CHILD syndrome affects the development of the brain, heart, lungs, and kidneys.","Curated_Disease_Description_Source__c":"GARD:0006039","GARD_Synonym__c":"child (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome; child nevus; child syndrome, x-linked dominant; congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome; congenital hemidysplasia with ichthyosiform nevus and limbs defects; ichthyosis, child syndrome","Name":"Child syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ichthyosis","Tag_Category__c":"Account","curated_tag_name":"Ichthyosis"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:139"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:139"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:139"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265267"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006039","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK51754","Source__c":"Gene Review","Xref__c":"NBK51754"},{"URL__c":"https://www.omim.org/entry/308050","Source__c":"C0265267; MONDO:0010621; ORPHA:139","Xref__c":"OMIM:308050"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111822","Source__c":"MONDO:0010621","Xref__c":"DOID:0111822"},{"URL__c":"https://www.orpha.net/en/disease/detail/139","Source__c":"C0265267; MONDO:0010621; ORPHA:139","Xref__c":"ORPHA:139"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82697","Source__c":"C0265267","Xref__c":"MEDGEN:82697"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562515","Source__c":"MONDO:0010621","Xref__c":"C562515"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265267","Source__c":"C0265267","Xref__c":"C0265267"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17608003","Source__c":"C0265267; MONDO:0010621","Xref__c":"17608003"},{"URL__c":"https://medlineplus.gov/genetics/condition/child-syndrome","Source__c":"GARD:0006039","Xref__c":"https://medlineplus.gov/genetics/condition/child-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010621","Source__c":"GARD:0006039","Xref__c":"MONDO:0010621"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NSDHL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nsdhl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002089","HPO_Synonym__c":"Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung","HPO_Name__c":"Pulmonary hypoplasia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An ichthyosiform abnormality of the skin with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007431","HPO_Synonym__c":"Congenital ichthyosis; Ichthyosis, congenital","HPO_Name__c":"Congenital ichthyosiform erythroderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001036","HPO_Name__c":"Parakeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\\"symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001159","HPO_Synonym__c":"Webbed fingers or toes","HPO_Name__c":"Syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025092","HPO_Synonym__c":"Acanthosis; Acanthotic epidermis; Thickening of upper layer of skin","HPO_Name__c":"Epidermal acanthosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010655","HPO_Synonym__c":"Epiphyseal punctate calcifications; Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses","HPO_Name__c":"Epiphyseal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by the presence of supernumerary fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010442","HPO_Synonym__c":"More than five fingers or toes on hands or feet","HPO_Name__c":"Polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence (aplasia) of one or more limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009827","HPO_Name__c":"Amelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045060","HPO_Name__c":"Aplasia/hypoplasia involving bones of the extremities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003651","HPO_Synonym__c":"Foamy histiocytes; Foamy macrophages; Lipid-laden histiocytes; Presence of foam cells","HPO_Name__c":"Foam cells","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008394","HPO_Name__c":"Congenital onychodystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Agenesis, that is, failure of the kidney to develop during embryogenesis and development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000104","HPO_Synonym__c":"Absent kidney; Missing kidney; Renal aplasia","HPO_Name__c":"Renal agenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002011","HPO_Synonym__c":"Abnormality of the central nervous system; Morphological abnormality of the central nervous system; Morphological abnormality of the CNS","HPO_Name__c":"Morphological central nervous system abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031517","HPO_Name__c":"Verruciform xanthoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012165","HPO_Name__c":"Oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the region around the nails of the fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100803","HPO_Synonym__c":"Abnormality of the periungual region","HPO_Name__c":"Abnormal periungual morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002828","HPO_Name__c":"Multiple joint contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004552","HPO_Synonym__c":"Cicatricial alopecia","HPO_Name__c":"Scarring alopecia of scalp","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Orthopedics","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"Cause":["Genetics","Inborn Errors of Metabolism"],"Account":["Dermatology","Ichthyosis"]},"synonyms":["child (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome"," child nevus"," child syndrome, x-linked dominant"," congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome"," congenital hemidysplasia with ichthyosiform nevus and limbs defects"," ichthyosis, child syndrome"]}