{"Name":"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome","DiseaseID__c":"GARD:0008174","id":8174,"encodedName":"cryptomicrotia-brachydactyly-excess-fingertip-arch-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome","Xref_IDs__c":"725096002; C1852454; C536219; MEDGEN:377678; MONDO:0007409; OMIM:123560; ORPHA:1547","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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:0007409","Disease_Description__c":"A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.","GARD_Name__c":"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome","GARD_Synonym__c":"bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch; cryptomicrotia brachydactyly syndrome; cryptomicrotia-brachydactyly syndrome; cryptomicrotia, brachydactyly, excess fingertip arch syndrome; tonoki ohura niikawa syndrome; tonoki-ohura-niikawa syndrome","Curated_Disease_Description_Source__c":"MONDO:0007409","Curated_Disease_Description__c":"A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1547","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007409","ORPHANET_ID__c":"ORPHA:1547","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de criptomicrotia-braquidactilia-exceso de arco de la yema del dedo","Spanish_Description_Source__c":"ORPHA:1547","Spanish_Description__c":"Es un síndrome malformativo congénito poco frecuente caracterizado por una combinación de malformaciones que incluyen: criptomicrotia bilateral, braquitelomesofalangia con falanges medias y distales cortas de los dedos 2 al 5, uñas de los pies hipoplásicas y exceso de patrones en arco de la yema del dedo. No ha habido más casos descritos en la literatura desde 1988.","Spanish_Disease_Name__c":"síndrome de criptomicrotia-braquidactilia-exceso de arco de la yema del dedo","Spanish_GARD_Synonym__c":"síndrome de criptomicrotia-braquidactilia; síndrome de tonoki-ohura-niikawa","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":"A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.","Curated_Disease_Description_Source__c":"MONDO:0007409","GARD_Synonym__c":"bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch; cryptomicrotia brachydactyly syndrome; cryptomicrotia-brachydactyly syndrome; cryptomicrotia, brachydactyly, excess fingertip arch syndrome; tonoki ohura niikawa syndrome; tonoki-ohura-niikawa syndrome","Name":"Cryptomicrotia-brachydactyly-excess fingertip arch 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1547"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536219","Source__c":"MONDO:0007409","Xref__c":"C536219"},{"URL__c":"https://www.orpha.net/en/disease/detail/1547","Source__c":"C1852454; MONDO:0007409; ORPHA:1547","Xref__c":"ORPHA:1547"},{"URL__c":"https://www.omim.org/entry/123560","Source__c":"C1852454; MONDO:0007409; ORPHA:1547","Xref__c":"OMIM:123560"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725096002","Source__c":"C1852454; MONDO:0007409","Xref__c":"725096002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377678","Source__c":"C1852454","Xref__c":"MEDGEN:377678"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1852454","Source__c":"C1852454","Xref__c":"C1852454"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007409","Source__c":"GARD:0008174","Xref__c":"MONDO:0007409"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1547","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1547","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000506","HPO_Synonym__c":"Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance","HPO_Name__c":"Telecanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1547","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:1547","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1547","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Midline indentation or cleft of the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000048","HPO_Synonym__c":"Cleft of scrotum; Scrotal cleft","HPO_Name__c":"Bifid scrotum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1547","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001800","HPO_Synonym__c":"Underdeveloped toenails","HPO_Name__c":"Hypoplastic toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1547","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionately short middle and distal phalanges compared to the hand/foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005872","HPO_Synonym__c":"Progressive brachydactyly of middle and distal phalanges; Short middle and distal phalanges of digits ii through v","HPO_Name__c":"Brachytelomesophalangy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch"," cryptomicrotia brachydactyly syndrome"," cryptomicrotia-brachydactyly syndrome"," cryptomicrotia, brachydactyly, excess fingertip arch syndrome"," tonoki ohura niikawa syndrome"," tonoki-ohura-niikawa syndrome"]}