{"Name":"Chondrodysplasia punctata, MT type","DiseaseID__c":"GARD:0016715","id":16715,"encodedName":"chondrodysplasia-punctata-mt-type","IsDeleted":false,"Disease_Name_Full__c":"Chondrodysplasia punctata, MT type","Xref_IDs__c":"254083002; C0432224; C562961; MEDGEN:98147; MONDO:0007322; OMIM:118651; ORPHA:79346","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:79346","Disease_Description__c":"A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.","GARD_Name__c":"Chondrodysplasia punctata, MT type","GARD_Synonym__c":"chondrodysplasia punctata, tibia-metacarpal type; chondrodysplasia punctata, tibial-metacarpal type","Curated_Disease_Description_Source__c":"ORPHA:79346","Curated_Disease_Description__c":"A rare, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:79346","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007322","ORPHANET_ID__c":"ORPHA:79346","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Condrodisplasia punctata tipo húmero-metacarpiana","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"condrodisplasia punctata tipo húmero-metacarpiana","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93419","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, non-rhizomelic, chondrodysplasia punctata syndrome characterized, radiologically, by stippled calcifications and disproportionate, short metacarpals and tibiae (with characteristic overshoot of the proximal fibula), clinically manifesting with severe short stature, bilateral shortening of upper and lower limbs, flat midface and nose, in the absence of cataracts and cutaneous anomalies. Neonatal tachypnea, hydrocephalus and mild developmental delay have been seldomly associated. Additional radiologic features include bowed long bones, platyspondyly and/or vertebral clefts.","Curated_Disease_Description_Source__c":"ORPHA:79346","GARD_Synonym__c":"chondrodysplasia punctata, tibia-metacarpal type; chondrodysplasia punctata, tibial-metacarpal type","Name":"Chondrodysplasia punctata, MT type","estimateUsa":""}],"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":"Antenatal","Provided_By__c":"ORPHA:79346"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79346"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432224","Source__c":"C0432224","Xref__c":"C0432224"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562961","Source__c":"MONDO:0007322","Xref__c":"C562961"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98147","Source__c":"C0432224","Xref__c":"MEDGEN:98147"},{"URL__c":"https://www.orpha.net/en/disease/detail/79346","Source__c":"C0432224; MONDO:0007322; ORPHA:79346","Xref__c":"ORPHA:79346"},{"URL__c":"https://www.omim.org/entry/118651","Source__c":"C0432224; MONDO:0007322; ORPHA:79346","Xref__c":"OMIM:118651"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254083002","Source__c":"C0432224; MONDO:0007322","Xref__c":"254083002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007322","Source__c":"GARD:0016715","Xref__c":"MONDO:0007322"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","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":"OMIM:118651","Feature__r":{"HPO_Description__c":"Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000457","HPO_Synonym__c":"Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge","HPO_Name__c":"Depressed nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"Frontal schisis (cleft or cleavage) of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003417","HPO_Synonym__c":"coronal cleft of vertebrae; Coronal clefts; Coronal vertebral clefts; Vertebral coronal clefts","HPO_Name__c":"Coronal cleft vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002832","HPO_Synonym__c":"Discrete calcific stippling","HPO_Name__c":"Calcific stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","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"}},{"Provided_By__c":"OMIM:118651","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short fourth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010044","HPO_Synonym__c":"Hypoplastic fourth metacarpal; Short 4th metacarpals; Short fourth metacarpals; Shortened 4th long bone of hand","HPO_Name__c":"Short 4th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"Underdevelopment (reduced size) of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005736","HPO_Synonym__c":"Hypoplasia of the tibia; Hypoplastic tibia; Short shinbone; Short skankbone; Short tibiae; Shortening of the shankbone; Shortening of the shinbone; Shortening of the tibia","HPO_Name__c":"Short tibia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"Short third metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010041","HPO_Synonym__c":"Hypoplastic 3rd metacarpal; Short third metacarpals; Shortened 3rd long bone of hand; Small 3rd metacarpals","HPO_Name__c":"Short 3rd metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:118651","Feature__r":{"HPO_Description__c":"Short second metacarpal bone because of developmental hypoplasia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010038","HPO_Synonym__c":"Rudimentary 2nd metacarpal; Shortened 2nd long bone of hand","HPO_Name__c":"Short 2nd metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["chondrodysplasia punctata, tibia-metacarpal type"," chondrodysplasia punctata, tibial-metacarpal type"]}