{"Name":"Spondyloepimetaphyseal dysplasia, Maroteaux type","DiseaseID__c":"GARD:0000994","id":994,"encodedName":"spondyloepimetaphyseal-dysplasia-maroteaux-type","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia, Maroteaux type","Xref_IDs__c":"719204007; C3159322; DOID:0111553; MEDGEN:463613; MONDO:0008473; OMIM:184095; ORPHA:263482","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:0008473","Disease_Description__c":"Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia, Maroteaux type","GARD_Synonym__c":"pseudo-morquio syndrome type 2; pseudo-morquio syndrome, type 2; sed, maroteaux type; sedm; spondyloepiphyseal dysplasia maroteaux type; spondyloepiphyseal dysplasia, maroteaux type","Curated_Disease_Description_Source__c":"GARD:0000994","Curated_Disease_Description__c":"Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia. SED Maroteaux type is caused by genetic changes in the TRPV4 gene and is inherited any an autosomal dominant fashion.","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:263482","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008473","ORPHANET_ID__c":"ORPHA:263482","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepimetafisaria tipo maroteaux","Spanish_Description_Source__c":"ORPHA:263482","Spanish_Description__c":"La displasia espondiloepifisaria tipo Maroteaux es un tipo muy poco frecuente de displasia espondiloepifisaria (consulte este término), descrito en menos de 10 pacientes hasta la fecha, que se caracteriza por epífisis displásica, estatura baja de aparición en la infancia, cuello corto, manos y pies cortos y regordetes, escoliosis, genu valgo, pelvis anormal, osteoporosis y osteoratritis.","Spanish_Disease_Name__c":"displasia espondiloepimetafisaria tipo maroteaux","Spanish_GARD_Synonym__c":"semd tipo maroteaux; semd-m; síndrome pseudo-morquio tipo 2; síndrome pseudo-morquio tipo ii","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":"Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia. SED Maroteaux type is caused by genetic changes in the TRPV4 gene and is inherited any an autosomal dominant fashion.","Curated_Disease_Description_Source__c":"GARD:0000994","GARD_Synonym__c":"pseudo-morquio syndrome type 2; pseudo-morquio syndrome, type 2; sed, maroteaux type; sedm; spondyloepiphyseal dysplasia maroteaux type; spondyloepiphyseal dysplasia, maroteaux type","Name":"Spondyloepimetaphyseal dysplasia, Maroteaux 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/"},{"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":"Infancy","Provided_By__c":"ORPHA:263482"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:263482"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000994","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201366","Source__c":"Gene Review","Xref__c":"NBK201366"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111553","Source__c":"MONDO:0008473","Xref__c":"DOID:0111553"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3159322","Source__c":"C3159322","Xref__c":"C3159322"},{"URL__c":"https://www.orpha.net/en/disease/detail/263482","Source__c":"C3159322; MONDO:0008473; ORPHA:263482","Xref__c":"ORPHA:263482"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719204007","Source__c":"C3159322; MONDO:0008473","Xref__c":"719204007"},{"URL__c":"https://www.omim.org/entry/184095","Source__c":"C3159322; MONDO:0008473; ORPHA:263482","Xref__c":"OMIM:184095"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=463613","Source__c":"C3159322","Xref__c":"MEDGEN:463613"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008473","Source__c":"GARD:0000994","Xref__c":"MONDO:0008473"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpv4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:184095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040160","HPO_Name__c":"Generalized osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A broad chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000914","HPO_Synonym__c":"Shield chest","HPO_Name__c":"Shield chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","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":"OMIM:184095","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003467","HPO_Name__c":"Atlantoaxial instability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002655","HPO_Name__c":"Spondyloepiphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","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":"OMIM:184095","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":"OMIM:184095","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, \\nsecond to fifth metatarsophalangeal joints, and wrists.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0430046","HPO_Name__c":"Small joint hypermobilty","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","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":"OMIM:184095","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:184095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["pseudo-morquio syndrome type 2"," pseudo-morquio syndrome, type 2"," sed, maroteaux type"," sedm"," spondyloepiphyseal dysplasia maroteaux type"," spondyloepiphyseal dysplasia, maroteaux type"]}