{"Name":"Multiple epiphyseal dysplasia, Lowry type","DiseaseID__c":"GARD:0017013","id":17013,"encodedName":"multiple-epiphyseal-dysplasia-lowry-type","IsDeleted":false,"Disease_Name_Full__c":"Multiple epiphyseal dysplasia, Lowry type","Xref_IDs__c":"768935003; C1832112; C563291; MEDGEN:321890; MONDO:0011109; OMIM:601560; ORPHA:166016","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:0011109","Disease_Description__c":"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.","GARD_Name__c":"Multiple epiphyseal dysplasia, Lowry type","GARD_Synonym__c":"multiple epiphyseal dysplasia lowry type; multiple epiphyseal dysplasia with robin phenotype","Curated_Disease_Description_Source__c":"MONDO:0011109","Curated_Disease_Description__c":"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:166016","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011109","ORPHANET_ID__c":"ORPHA:166016","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia epifisaria múltiple tipo lowry","Spanish_Description_Source__c":"ORPHA:166016","Spanish_Description__c":"Es una displasia ósea primaria poco frecuente caracterizada por epífisis pequeñas y planas (especialmente las epifisis de la cabeza femoral), acortamiento rizomélico de las extremidades, hendidura del paladar secundario, micrognatia, leves contracturas articulares y dismorfia facial (incluyendo leve inclinación hacia arriba de las fisuras palpebrales, hipertelorismo, punta nasal ancha). Otras características adicionales descritas incluyen escoliosis, genu valgo, pectus excavatum leve, platiespondilia, luxación de las cabezas radiales, braquidactilia, fíbulas hipoplásicas y talipes equinovarus.","Spanish_Disease_Name__c":"displasia epifisaria múltiple tipo lowry","Spanish_GARD_Synonym__c":"displasia epifisaria múltiple con fenotipo robin; displasia múltiple epifisaria con fenotipo de pierre robin","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":"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.","Curated_Disease_Description_Source__c":"MONDO:0011109","GARD_Synonym__c":"multiple epiphyseal dysplasia lowry type; multiple epiphyseal dysplasia with robin phenotype","Name":"Multiple epiphyseal dysplasia, Lowry type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"}],"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":"Neonatal","Provided_By__c":"ORPHA:166016"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321890","Source__c":"C1832112","Xref__c":"MEDGEN:321890"},{"URL__c":"https://www.omim.org/entry/601560","Source__c":"C1832112; MONDO:0011109; ORPHA:166016","Xref__c":"OMIM:601560"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=768935003","Source__c":"C1832112; MONDO:0011109","Xref__c":"768935003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563291","Source__c":"MONDO:0011109","Xref__c":"C563291"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832112","Source__c":"C1832112","Xref__c":"C1832112"},{"URL__c":"https://www.orpha.net/en/disease/detail/166016","Source__c":"C1832112; MONDO:0011109; ORPHA:166016","Xref__c":"ORPHA:166016"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011109","Source__c":"GARD:0017013","Xref__c":"MONDO:0011109"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003083","HPO_Synonym__c":"Congenital radial head dislocation; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation","HPO_Name__c":"Dislocated radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","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:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002656","HPO_Synonym__c":"Abnormal development of the ends of long bones in arms and legs","HPO_Name__c":"Epiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008905","HPO_Synonym__c":"Disproportionately short upper portion of limb; Rhizomelic dwarfism; Rhizomelic limb shortening; Rhizomelic short limbs; Rhizomelic short stature; Rhizomelic shortening; Short stature, rhizomelic; Symmetrical rhizomelic limb shortening","HPO_Name__c":"Rhizomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in width of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000455","HPO_Synonym__c":"Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose","HPO_Name__c":"Broad nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410005","HPO_Synonym__c":"Cleft bony palate; Cleft of hard palate","HPO_Name__c":"Cleft hard palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fragmented appearance of the epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100168","HPO_Synonym__c":"Fragmented end part of bone","HPO_Name__c":"Fragmented epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006471","HPO_Name__c":"Fixed elbow flexion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003038","HPO_Synonym__c":"Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae","HPO_Name__c":"Fibular hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006380","HPO_Synonym__c":"Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Knee flexion contractures; Knee flexion deformity","HPO_Name__c":"Knee flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the sternum, also known as the breastbone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000766","HPO_Synonym__c":"Abnormality of the sternum; Pectus carinatum or pectus excavatum; Pectus deformities; Pectus deformity; Pectus excavatum or carinatum; Pectus excavatum or pectus carinatum; Pectus excavatum/carinatum; Sternal anomalies","HPO_Name__c":"Abnormal sternum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal flatness (decreased height) of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003071","HPO_Synonym__c":"Flat end part of bone; Flat epiphyses","HPO_Name__c":"Flattened epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in the size or volume of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010585","HPO_Synonym__c":"Small end part of bone","HPO_Name__c":"Small epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166016","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["multiple epiphyseal dysplasia lowry type"," multiple epiphyseal dysplasia with robin phenotype"]}