{"Name":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","DiseaseID__c":"GARD:0010012","id":10012,"encodedName":"camptodactyly-tall-stature-scoliosis-hearing-loss-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","Xref_IDs__c":"C1864852; C537975; DOID:0111160; MEDGEN:355844; MONDO:0012504; OMIM:610474; ORPHA:85164","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012504","Disease_Description__c":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.","GARD_Name__c":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","GARD_Synonym__c":"camptodactyly and tall stature with scoliosis and hearing loss syndrome; camptodactyly-tall stature-scoliosis-deafness syndrome; catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome; catshl syndrome","Curated_Disease_Description_Source__c":"MONDO:0012504","Curated_Disease_Description__c":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85164","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012504","ORPHANET_ID__c":"ORPHA:85164","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de camptodactilia-talla alta-escoliosis-hipoacusia","Spanish_Description_Source__c":"ORPHA:85164","Spanish_Description__c":"Es un síndrome caracterizado por camptodactilia, talla alta, escoliosis e hipoacusia (CATSHL). Se ha descrito en alrededor de 30 pacientes de siete generaciones de una misma familia. El síndrome está causado por una mutación de cambio de sentido en el gen <i>FGFR3</i>, que conduce a una pérdida parcial de la función de la proteína codificada, que es un regulador negativo del crecimiento óseo.","Spanish_Disease_Name__c":"síndrome de camptodactilia-talla alta-escoliosis-hipoacusia","Spanish_GARD_Synonym__c":"síndrome catshl; síndrome de camptodactilia-talla alta-escoliosis-sordera","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":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.","Curated_Disease_Description_Source__c":"MONDO:0012504","GARD_Synonym__c":"camptodactyly and tall stature with scoliosis and hearing loss syndrome; camptodactyly-tall stature-scoliosis-deafness syndrome; catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome; catshl syndrome","Name":"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:85164"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1864852"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010012","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537975","Source__c":"MONDO:0012504","Xref__c":"C537975"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864852","Source__c":"C1864852","Xref__c":"C1864852"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111160","Source__c":"MONDO:0012504","Xref__c":"DOID:0111160"},{"URL__c":"https://www.omim.org/entry/610474","Source__c":"C1864852; MONDO:0012504; ORPHA:85164","Xref__c":"OMIM:610474"},{"URL__c":"https://www.orpha.net/en/disease/detail/85164","Source__c":"C1864852; MONDO:0012504; ORPHA:85164","Xref__c":"ORPHA:85164"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355844","Source__c":"C1864852","Xref__c":"MEDGEN:355844"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012504","Source__c":"GARD:0010012","Xref__c":"MONDO:0012504"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720601000","Source__c":"C1864852","Xref__c":"720601000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGFR3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgfr3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85164","HPO_Frequency__c":"Very frequent (80-99%)","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:85164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100491","HPO_Synonym__c":"Abnormality of lower limb joint; Abnormality of the joints of the lower limbs","HPO_Name__c":"Abnormality of lower limb joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["camptodactyly and tall stature with scoliosis and hearing loss syndrome"," camptodactyly-tall stature-scoliosis-deafness syndrome"," catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome"," catshl syndrome"]}