{"Name":"Eiken syndrome","DiseaseID__c":"GARD:0016698","id":16698,"encodedName":"eiken-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Eiken syndrome","Xref_IDs__c":"720863002; C1838779; C564010; DOID:0111732; MEDGEN:325097; MONDO:0010803; OMIM:600002; ORPHA:79106","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010803","Disease_Description__c":"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.","GARD_Name__c":"Eiken syndrome","GARD_Synonym__c":"bone modeling defect of hands and feet; ekns","Curated_Disease_Description_Source__c":"MONDO:0010803","Curated_Disease_Description__c":"A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.","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:79106","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010803","ORPHANET_ID__c":"ORPHA:79106","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de eiken","Spanish_Description_Source__c":"ORPHA:79106","Spanish_Description__c":"Es una displasia ósea primaria, genética y poco frecuente, caracterizada por displasia epifisaria múltiple, grave retraso en la osificación (principalmente de las epífisis, sínfisis púbica, manos y pies), modelado anómalo de los huesos de las manos y los pies, persistencia anómala de cartílago pélvico y leve retraso del crecimiento. Por lo general, los niveles séricos de calcio, fosfatos y vitamina D están dentro del rango normal, mientras que los niveles séricos de la hormona paratiroidea son normales o ligeramente elevados. Excepcionalmente, se ha asociado con oligodontia.","Spanish_Disease_Name__c":"síndrome de eiken","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, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.","Curated_Disease_Description_Source__c":"MONDO:0010803","GARD_Synonym__c":"bone modeling defect of hands and feet; ekns","Name":"Eiken 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79106"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79106"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838779","Source__c":"C1838779","Xref__c":"C1838779"},{"URL__c":"https://www.orpha.net/en/disease/detail/79106","Source__c":"C1838779; MONDO:0010803; ORPHA:79106","Xref__c":"ORPHA:79106"},{"URL__c":"https://www.omim.org/entry/600002","Source__c":"C1838779; MONDO:0010803; ORPHA:79106","Xref__c":"OMIM:600002"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720863002","Source__c":"C1838779; MONDO:0010803","Xref__c":"720863002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111732","Source__c":"MONDO:0010803","Xref__c":"DOID:0111732"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325097","Source__c":"C1838779","Xref__c":"MEDGEN:325097"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564010","Source__c":"MONDO:0010803","Xref__c":"C564010"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010803","Source__c":"GARD:0016698","Xref__c":"MONDO:0010803"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PTH1R","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001169","HPO_Synonym__c":"Broad hand; Broad hands; Broad palm; Wide palm","HPO_Name__c":"Broad palm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003170","HPO_Synonym__c":"Abnormality of the acetabulum; Abnormality of the hipbone socket; Acetabular abnormality","HPO_Name__c":"Abnormal acetabulum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001769","HPO_Synonym__c":"Broad feet; Broad foot; Wide foot","HPO_Name__c":"Broad foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal positioning in which the elbows are turned out.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002967","HPO_Synonym__c":"Outward turned elbows","HPO_Name__c":"Cubitus valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003025","HPO_Synonym__c":"Frayed, irregular metaphyses; Frayed, irregular, metaphyses; Irregular metaphyses; Irregular wide portion of a long bone; Metaphyseal fraying; Metaphyseal irregularities","HPO_Name__c":"Metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","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:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thinning of the cortical region of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002753","HPO_Synonym__c":"Thin cortices","HPO_Name__c":"Thin bony cortex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","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:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the sacrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010305","HPO_Synonym__c":"Absent sacrum; Sacral agenesis","HPO_Name__c":"Absence of the sacrum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the tip (end) of a finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001211","HPO_Synonym__c":"Abnormality of the fingertips","HPO_Name__c":"Abnormal fingertip morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008808","HPO_Synonym__c":"High iliac wings; Narrow, high iliac wings","HPO_Name__c":"High iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A toe that appears disproportionately short compared to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001831","HPO_Synonym__c":"Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes","HPO_Name__c":"Short toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced side to side width of the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003275","HPO_Synonym__c":"Narrow pelvis bone","HPO_Name__c":"Narrow pelvis bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001773","HPO_Synonym__c":"Hypoplastic feet; Short feet; Short foot; Small feet","HPO_Name__c":"Short foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009803","HPO_Synonym__c":"Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges","HPO_Name__c":"Short phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Very frequent (80-99%)","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:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal structure or form of trabecular bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100671","HPO_Synonym__c":"Abnormal shape of spongy bone; Abnormality of bone trabeculation","HPO_Name__c":"Abnormal trabecular bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004279","HPO_Synonym__c":"Short palm","HPO_Name__c":"Short palm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006376","HPO_Name__c":"Limited elbow flexion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","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:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008800","HPO_Synonym__c":"Limited hip movement","HPO_Name__c":"Limited hip movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011849","HPO_Name__c":"Abnormal bone ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79106","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["bone modeling defect of hands and feet"," ekns"]}