{"Name":"Anauxetic dysplasia","DiseaseID__c":"GARD:0009657","id":9657,"encodedName":"anauxetic-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Anauxetic dysplasia","Xref_IDs__c":"C1846796; C538256; DOID:0080942; MEDGEN:375972; MONDO:0011773; OMIMPS:607095; ORPHA:93347","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011773","Disease_Description__c":"A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.","GARD_Name__c":"Anauxetic dysplasia","GARD_Synonym__c":"anauxetic dysplasia type 1; spondyloepimetaphyseal dysplasia anauxetic type; spondyloepimetaphyseal dysplasia menger type; spondyloepimetaphyseal dysplasia, anauxetic type; spondyloepimetaphyseal dysplasia, menger type; spondylometaepiphyseal dysplasia, menger type","Curated_Disease_Description_Source__c":"MONDO:0011773","Curated_Disease_Description__c":"Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder. People with anauxetic dysplasia have dwarfism with unusually short limbs for their height (disproportionate short stature) beginning before birth. Dislocation of the bones at the top of the spine (atlantoaxial subluxation) can also occur in this disorder, and may cause pinching (compression) of the spinal cord. As a result, affected individuals may experience neurological symptoms including pain, tingling, numbness, coordination problems, weakness, and paralysis. In severe cases, the spinal cord compression may lead to paralysis of the muscles needed for breathing, which can be life-threatening during early childhood. Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped chest and a rounded upper back that also curves to the side (kyphoscoliosis). Without surgical correction, the kyphoscoliosis can constrict the lungs and cause difficulty breathing. People with anauxetic dysplasia can also have an exaggerated curvature of the lower back (hyperlordosis), dislocation of the hips, and soles of the feet that are rounded outward (rocker-bottom feet). Typical facial features in anauxetic dysplasia include closely spaced eyes (hypotelorism), a flat or sunken appearance of the middle of the face (midface hypoplasia), an unusually large tongue (macroglossia), and a protruding chin (prognathism). Affected individuals can also have fewer teeth than normal (hypodontia).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:93347","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011773","ORPHANET_ID__c":"ORPHA:93347","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia anauxética","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia anauxética","Spanish_GARD_Synonym__c":"displasia espondiloepimetafisaria tipo anauxética; displasia espondiloepimetafisaria tipo menger","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":"Anauxetic dysplasia is a disorder characterized by extremely short stature (dwarfism) and other skeletal abnormalities, an unusually large range of joint movement (hypermobility), dental problems, and distinctive facial features. Mild intellectual disability can also occur in this disorder. People with anauxetic dysplasia have dwarfism with unusually short limbs for their height (disproportionate short stature) beginning before birth. Dislocation of the bones at the top of the spine (atlantoaxial subluxation) can also occur in this disorder, and may cause pinching (compression) of the spinal cord. As a result, affected individuals may experience neurological symptoms including pain, tingling, numbness, coordination problems, weakness, and paralysis. In severe cases, the spinal cord compression may lead to paralysis of the muscles needed for breathing, which can be life-threatening during early childhood. Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped chest and a rounded upper back that also curves to the side (kyphoscoliosis). Without surgical correction, the kyphoscoliosis can constrict the lungs and cause difficulty breathing. People with anauxetic dysplasia can also have an exaggerated curvature of the lower back (hyperlordosis), dislocation of the hips, and soles of the feet that are rounded outward (rocker-bottom feet). Typical facial features in anauxetic dysplasia include closely spaced eyes (hypotelorism), a flat or sunken appearance of the middle of the face (midface hypoplasia), an unusually large tongue (macroglossia), and a protruding chin (prognathism). Affected individuals can also have fewer teeth than normal (hypodontia).","Curated_Disease_Description_Source__c":"MONDO:0011773","GARD_Synonym__c":"anauxetic dysplasia type 1; spondyloepimetaphyseal dysplasia anauxetic type; spondyloepimetaphyseal dysplasia menger type; spondyloepimetaphyseal dysplasia, anauxetic type; spondyloepimetaphyseal dysplasia, menger type; spondylometaepiphyseal dysplasia, menger type","Name":"Anauxetic dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"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:93347"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93347"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1846796"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009657","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK84550","Source__c":"Gene Review","Xref__c":"NBK84550"},{"URL__c":"https://www.orpha.net/en/disease/detail/93347","Source__c":"C1846796; MONDO:0011773; ORPHA:93347","Xref__c":"ORPHA:93347"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375972","Source__c":"C1846796","Xref__c":"MEDGEN:375972"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538256","Source__c":"MONDO:0011773","Xref__c":"C538256"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846796","Source__c":"C1846796","Xref__c":"C1846796"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607095","Source__c":"MONDO:0011773","Xref__c":"OMIMPS:607095"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080942","Source__c":"MONDO:0011773","Xref__c":"DOID:0080942"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764460003","Source__c":"C1846796","Xref__c":"764460003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011773","Source__c":"GARD:0009657","Xref__c":"MONDO:0011773"},{"URL__c":"https://medlineplus.gov/genetics/condition/anauxetic-dysplasia","Source__c":"GARD:0009657","Xref__c":"https://medlineplus.gov/genetics/condition/anauxetic-dysplasia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RMRP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rmrp","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true},{"GeneSymbol__c":"RMP64","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"POP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["anauxetic dysplasia type 1"," spondyloepimetaphyseal dysplasia anauxetic type"," spondyloepimetaphyseal dysplasia menger type"," spondyloepimetaphyseal dysplasia, anauxetic type"," spondyloepimetaphyseal dysplasia, menger type"," spondylometaepiphyseal dysplasia, menger type"]}