{"Name":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","DiseaseID__c":"GARD:0000258","id":258,"encodedName":"radial-hypoplasia-triphalangeal-thumbs-hypospadias-maxillary-diastema-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","Xref_IDs__c":"716092007; C1867397; C536262; MEDGEN:357271; MONDO:0008357; OMIM:179250; ORPHA:2252","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008357","Disease_Description__c":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.","GARD_Name__c":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","GARD_Synonym__c":"radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome; radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema; radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema; schmitt gillenwater kelly syndrome; schmitt-gillenwater-kelly syndrome","Curated_Disease_Description_Source__c":"ORPHA:2252","Curated_Disease_Description__c":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2252","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008357","ORPHANET_ID__c":"ORPHA:2252","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipoplasia radial-pulgares trifalángicos-hipospadias-diastema maxilar","Spanish_Description_Source__c":"ORPHA:2252","Spanish_Description__c":"Es un síndrome caracterizado por pulgares trifalángicos simétricos no oponibles e hipoplasia radial. Se ha descrito en ocho pacientes (cinco mujeres y tres hombres) de varias generaciones de una misma familia. Los varones afectos también presentaban hipospadias. El síndrome se hereda como un rasgo autosómico dominante.","Spanish_Disease_Name__c":"síndrome de hipoplasia radial-pulgares trifalángicos-hipospadias-diastema maxilar","Spanish_GARD_Synonym__c":null,"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":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.","Curated_Disease_Description_Source__c":"ORPHA:2252","GARD_Synonym__c":"radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome; radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema; radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema; schmitt gillenwater kelly syndrome; schmitt-gillenwater-kelly syndrome","Name":"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2252"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536262","Source__c":"MONDO:0008357","Xref__c":"C536262"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357271","Source__c":"C1867397","Xref__c":"MEDGEN:357271"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716092007","Source__c":"C1867397; MONDO:0008357","Xref__c":"716092007"},{"URL__c":"https://www.omim.org/entry/179250","Source__c":"C1867397; MONDO:0008357; ORPHA:2252","Xref__c":"OMIM:179250"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867397","Source__c":"C1867397","Xref__c":"C1867397"},{"URL__c":"https://www.orpha.net/en/disease/detail/2252","Source__c":"C1867397; MONDO:0008357; ORPHA:2252","Xref__c":"ORPHA:2252"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008357","Source__c":"GARD:0000258","Xref__c":"MONDO:0008357"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2252","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2252","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2252","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002984","HPO_Synonym__c":"Hypoplastic radii; Hypoplastic radius; Radial hypoplasia; Short radii; Short radius; Shortening of radius; Underdeveloped outer large forearm bone","HPO_Name__c":"Hypoplasia of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2252","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005725","HPO_Name__c":"Nonopposable triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2252","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2252","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Urologist","Pediatrics"]},"synonyms":["radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome"," radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema"," radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema"," schmitt gillenwater kelly syndrome"," schmitt-gillenwater-kelly syndrome"]}