{"Name":"Brachyolmia-amelogenesis imperfecta syndrome","DiseaseID__c":"GARD:0005478","id":5478,"encodedName":"brachyolmia-amelogenesis-imperfecta-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brachyolmia-amelogenesis imperfecta syndrome","Xref_IDs__c":"716195006; C1832594; DOID:0090143; MEDGEN:318659; MONDO:0011018; OMIM:601216; ORPHA:2899","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"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:0011018","Disease_Description__c":"An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.","GARD_Name__c":"Brachyolmia-amelogenesis imperfecta syndrome","GARD_Synonym__c":"autosomal recessive brachyolmia and amelogenesis imperfecta syndrome; brachyolmia and amelogenesis imperfecta syndrome; dass; dental anomalies and short stature; platyspondyly amelogenesis imperfecta; platyspondyly with amelogenesis imperfecta; platyspondyly-amelogenesis imperfecta syndrome; selective tooth agenesis 5; sthag6; tooth agenesis, selective, 6; verloes bourguignon syndrome; verloes-bourguignon syndrome","Curated_Disease_Description_Source__c":"MONDO:0011018","Curated_Disease_Description__c":"An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2899","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011018","ORPHANET_ID__c":"ORPHA:2899","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de braquiolmia-amelogénesis imperfecta","Spanish_Description_Source__c":"ORPHA:2899","Spanish_Description__c":"Es una forma muy poco frecuente de braquiolmia caracterizada por leve platispondilia, ilion ancho, cuellos femorales alargados con coxa valga, escoliosis y talla baja por tronco corto, junto con amelogénesis imperfecta de la dentición tanto primaria como permanente.","Spanish_Disease_Name__c":"síndrome de braquiolmia-amelogénesis imperfecta","Spanish_GARD_Synonym__c":"platispondilia-amelogénesis imperfecta; síndrome de verloes-bourguignon","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":"An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.","Curated_Disease_Description_Source__c":"MONDO:0011018","GARD_Synonym__c":"autosomal recessive brachyolmia and amelogenesis imperfecta syndrome; brachyolmia and amelogenesis imperfecta syndrome; dass; dental anomalies and short stature; platyspondyly amelogenesis imperfecta; platyspondyly with amelogenesis imperfecta; platyspondyly-amelogenesis imperfecta syndrome; selective tooth agenesis 5; sthag6; tooth agenesis, selective, 6; verloes bourguignon syndrome; verloes-bourguignon syndrome","Name":"Brachyolmia-amelogenesis imperfecta syndrome","estimateUsa":""}],"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2899"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005478","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832594","Source__c":"C1832594","Xref__c":"C1832594"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090143","Source__c":"MONDO:0011018","Xref__c":"DOID:0090143"},{"URL__c":"https://www.orpha.net/en/disease/detail/2899","Source__c":"C1832594; MONDO:0011018; ORPHA:2899","Xref__c":"ORPHA:2899"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318659","Source__c":"C1832594","Xref__c":"MEDGEN:318659"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716195006","Source__c":"C1832594; MONDO:0011018","Xref__c":"716195006"},{"URL__c":"https://www.omim.org/entry/601216","Source__c":"C1832594; MONDO:0011018; ORPHA:2899","Xref__c":"OMIM:601216"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011018","Source__c":"GARD:0005478","Xref__c":"MONDO:0011018"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LTBP3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601216","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000327","HPO_Synonym__c":"Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion","HPO_Name__c":"Hypoplasia of the maxilla","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","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:601216","Feature__r":{"HPO_Description__c":"Increased spaces (diastemata) between most of the teeth in the same dental arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000687","HPO_Synonym__c":"Generalized dental spacing; Generalized spacing of teeth; Multiple diastemata; Wide-spaced teeth; Widely spaced teeth; Widely-spaced teeth","HPO_Name__c":"Widely spaced teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","Feature__r":{"HPO_Description__c":"Decreased height of the intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002945","HPO_Synonym__c":"Narrow intervertebral disk spaces; Narrow intervertebral spaces","HPO_Name__c":"Intervertebral space narrowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","Feature__r":{"HPO_Description__c":"A developmental dysplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000705","HPO_Name__c":"Amelogenesis imperfecta","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","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":"OMIM:601216","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:601216","Feature__r":{"HPO_Description__c":"A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008450","HPO_Synonym__c":"Interpedicular narrowing; Narrow interpedicular space; Narrow interpediculate distances; Narrowing of interpediculate distances","HPO_Name__c":"Narrow vertebral interpedicular distance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","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":"OMIM:601216","Feature__r":{"HPO_Description__c":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000998","HPO_Name__c":"Hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","Feature__r":{"HPO_Description__c":"The presence of one or more herniated nucleus pulposus of intervertebral disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008441","HPO_Synonym__c":"Herniated intervertebral nuclei","HPO_Name__c":"Herniation of intervertebral nuclei","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601216","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:601216","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Odontology","Pediatrics"]},"synonyms":["autosomal recessive brachyolmia and amelogenesis imperfecta syndrome"," brachyolmia and amelogenesis imperfecta syndrome"," dass"," dental anomalies and short stature"," platyspondyly amelogenesis imperfecta"," platyspondyly with amelogenesis imperfecta"," platyspondyly-amelogenesis imperfecta syndrome"," selective tooth agenesis 5"," sthag6"," tooth agenesis, selective, 6"," verloes bourguignon syndrome"," verloes-bourguignon syndrome"]}