{"Name":"Pyle metaphyseal dysplasia","DiseaseID__c":"GARD:0004612","id":4612,"encodedName":"pyle-metaphyseal-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Pyle metaphyseal dysplasia","Xref_IDs__c":"27837003; C0265294; C536252; DOID:0080019; MEDGEN:82704; MONDO:0009943; OMIM:265900; ORPHA:3005; Q78.5","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009943","Disease_Description__c":"A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs.","GARD_Name__c":"Pyle metaphyseal dysplasia","GARD_Synonym__c":"bakwin-krida syndrome; metaphyseal dysostosis; metaphyseal dysplasia, pyle type; pyl; pyle disease; pyle-cohn syndrome; pyle's disease; pyle's syndrome","Curated_Disease_Description_Source__c":"GARD:0004612","Curated_Disease_Description__c":"Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals. Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle disease, including delayed appearance (eruption) of permanent teeth and misalignment of the top and bottom teeth (malocclusion).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3005","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009943","ORPHANET_ID__c":"ORPHA:3005","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de pyle","Spanish_Description_Source__c":"ORPHA:3005","Spanish_Description__c":"Es una displasia ósea caracterizada por genu valgo, anomalías metafisarias con ensanchamiento de los huesos largos que se extiende hasta la diáfisis y que dota al fémur y a la tibia de un aspecto de 'matraz de Erlenmeyer', ensanchamiento de las costillas y clavículas, platispondilia y adelgazamiento cortical.","Spanish_Disease_Name__c":"enfermedad de pyle","Spanish_GARD_Synonym__c":"displasia metafisaria tipo pyle; enfermedad de pyle asociada a sfrp4","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":"Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals. Other bone abnormalities can also occur in Pyle disease. Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands. Dental problems are common in Pyle disease, including delayed appearance (eruption) of permanent teeth and misalignment of the top and bottom teeth (malocclusion).","Curated_Disease_Description_Source__c":"GARD:0004612","GARD_Synonym__c":"bakwin-krida syndrome; metaphyseal dysostosis; metaphyseal dysplasia, pyle type; pyl; pyle disease; pyle-cohn syndrome; pyle's disease; pyle's syndrome","Name":"Pyle metaphyseal dysplasia","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":"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:3005"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3005"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004612","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=27837003","Source__c":"C0265294; MONDO:0009943","Xref__c":"27837003"},{"URL__c":"https://www.orpha.net/en/disease/detail/3005","Source__c":"C0265294; MONDO:0009943; ORPHA:3005","Xref__c":"ORPHA:3005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080019","Source__c":"MONDO:0009943","Xref__c":"DOID:0080019"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q78.5","Source__c":"MONDO:0009943","Xref__c":"Q78.5"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82704","Source__c":"C0265294","Xref__c":"MEDGEN:82704"},{"URL__c":"https://www.omim.org/entry/265900","Source__c":"C0265294; MONDO:0009943; ORPHA:3005","Xref__c":"OMIM:265900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265294","Source__c":"C0265294","Xref__c":"C0265294"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536252","Source__c":"MONDO:0009943","Xref__c":"C536252"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009943","Source__c":"GARD:0004612","Xref__c":"MONDO:0009943"},{"URL__c":"https://medlineplus.gov/genetics/condition/pyle-disease","Source__c":"GARD:0004612","Xref__c":"https://medlineplus.gov/genetics/condition/pyle-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SFRP4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sfrp4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","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:3005","HPO_Frequency__c":"Occasional (5-29%)","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:3005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","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:3005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption affecting the secondary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000696","HPO_Synonym__c":"Delayed eruption of adult teeth; Delayed eruption of permanent teeth; Delayed eruption of secondary dentition; Delayed eruption of secondary teeth; Delayed permanent dentition","HPO_Name__c":"Delayed eruption of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Flaring of distal femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004975","HPO_Synonym__c":"Erlenmeyer flask deformity of distal femur; Erlenmeyer flask femora; Erlenmeyer flask shaped thighbone","HPO_Name__c":"Erlenmeyer flask deformity of the femurs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally thin calvarium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010539","HPO_Synonym__c":"Thin cranial bone","HPO_Name__c":"Thin calvarium","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increase in size of one or more metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003051","HPO_Synonym__c":"Enlarged wide portion of a long bone","HPO_Name__c":"Enlarged metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased density of craniofacial bone tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005464","HPO_Name__c":"Craniofacial osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002645","HPO_Synonym__c":"Extra bones within cranial sutures; Intra sutural bones; Intrasutural bones; Islands of bone within cranial sutures","HPO_Name__c":"Wormian bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006599","HPO_Name__c":"Medial widening of clavicles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000411","HPO_Synonym__c":"Prominent ear; Prominent ears","HPO_Name__c":"Protruding ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000689","HPO_Synonym__c":"Bad bite; Bilateral crossbite; Bilateral crossbite malocclusion; Incorrect relation between upper and lower dental arches; Malalignment of upper and lower dental arches; Malocclusion; Malocclusion of teeth; Misalignment of upper and lower dental arches; Occlusion anomaly","HPO_Name__c":"Dental malocclusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3005","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["bakwin-krida syndrome"," metaphyseal dysostosis"," metaphyseal dysplasia, pyle type"," pyl"," pyle disease"," pyle-cohn syndrome"," pyle's disease"," pyle's syndrome"]}