{"Name":"Spondylometaphyseal dysplasia, Sedaghatian type","DiseaseID__c":"GARD:0004993","id":4993,"encodedName":"spondylometaphyseal-dysplasia-sedaghatian-type","IsDeleted":false,"Disease_Name_Full__c":"Spondylometaphyseal dysplasia, Sedaghatian type","Xref_IDs__c":"C1855229; C535798; DOID:0112298; MEDGEN:340816; MONDO:0009593; OMIM:250220; ORPHA:93317","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009593","Disease_Description__c":"A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.","GARD_Name__c":"Spondylometaphyseal dysplasia, Sedaghatian type","GARD_Synonym__c":"lethal metaphyseal dysplasia; metaphyseal chondrodysplasia, congenital lethal; sedaghatian chondrodysplasia","Curated_Disease_Description_Source__c":"MONDO:0009593","Curated_Disease_Description__c":"A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.","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:93317","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009593","ORPHANET_ID__c":"ORPHA:93317","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondilometafisaria tipo sedaghatian","Spanish_Description_Source__c":"ORPHA:93317","Spanish_Description__c":"La displasia espondiloepifisaria (SEMD) de tipo Sedaghatian es una forma neonatal letal de displasia espondiloepisaria. Se caracteriza por: condrodisplasia metafisaria grave, acortamiento rizomélico leve de las extremidades superiores y platispondilia leve.","Spanish_Disease_Name__c":"displasia espondilometafisaria tipo sedaghatian","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 neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.","Curated_Disease_Description_Source__c":"MONDO:0009593","GARD_Synonym__c":"lethal metaphyseal dysplasia; metaphyseal chondrodysplasia, congenital lethal; sedaghatian chondrodysplasia","Name":"Spondylometaphyseal dysplasia, Sedaghatian type","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/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.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:93317"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:93317"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1855229"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004993","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535798","Source__c":"MONDO:0009593","Xref__c":"C535798"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340816","Source__c":"C1855229","Xref__c":"MEDGEN:340816"},{"URL__c":"https://www.omim.org/entry/250220","Source__c":"C1855229; MONDO:0009593; ORPHA:93317","Xref__c":"OMIM:250220"},{"URL__c":"https://www.orpha.net/en/disease/detail/93317","Source__c":"C1855229; MONDO:0009593; ORPHA:93317","Xref__c":"ORPHA:93317"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855229","Source__c":"C1855229","Xref__c":"C1855229"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112298","Source__c":"MONDO:0009593","Xref__c":"DOID:0112298"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009593","Source__c":"GARD:0004993","Xref__c":"MONDO:0009593"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GPX4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","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:93317","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tall head relative to width and length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000262","HPO_Synonym__c":"Tall shaped cranium; Tall shaped skull; Tower cranium shape; Tower skull shape; Turricephalus","HPO_Name__c":"Turricephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004991","HPO_Name__c":"Rhizomelic arm shortening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010579","HPO_Synonym__c":"Cone-shaped end part of bone; Cone-shaped epiphyses; Coned epiphyses","HPO_Name__c":"Cone-shaped epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the myocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012819","HPO_Synonym__c":"Inflammation of heart muscle","HPO_Name__c":"Myocarditis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001678","HPO_Synonym__c":"Interruption of electrical communication between upper and lower chambers of heart","HPO_Name__c":"Atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001302","HPO_Synonym__c":"Cerebral pachygyria; Fewer and broader ridges in brain; Macrogyria","HPO_Name__c":"Pachygyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Irregularities of the iliac crest that produce the appearance of a lace border around it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008786","HPO_Synonym__c":"Irregular lacy iliac crest; Lacy appearance of iliac crest","HPO_Name__c":"Iliac crest serration","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000774","HPO_Synonym__c":"Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter","HPO_Name__c":"Narrow chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the scapula, also known as the shoulder blade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000782","HPO_Synonym__c":"Abnormality of the shoulder blade","HPO_Name__c":"Abnormal scapula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to differing extents.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003498","HPO_Synonym__c":"Short stature, disproportionate","HPO_Name__c":"Disproportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionately long fibulae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003085","HPO_Synonym__c":"Disproportionately long fibula; Long calf bone; Long fibula","HPO_Name__c":"Long fibula","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002657","HPO_Name__c":"Spondylometaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","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:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005871","HPO_Name__c":"Metaphyseal chondrodysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93317","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006543","HPO_Name__c":"Cardiorespiratory arrest","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["lethal metaphyseal dysplasia"," metaphyseal chondrodysplasia, congenital lethal"," sedaghatian chondrodysplasia"]}