{"Name":"Greenberg dysplasia","DiseaseID__c":"GARD:0008754","id":8754,"encodedName":"greenberg-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Greenberg dysplasia","Xref_IDs__c":"389261002; C2931048; C535858; DOID:0111588; MEDGEN:418969; MONDO:0008974; OMIM:215140; ORPHA:1426","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:0008974","Disease_Description__c":"Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early <i>in utero</i> lethality and affected fetuses are considered as nonviable.","GARD_Name__c":"Greenberg dysplasia","GARD_Synonym__c":"chondrodystrophy, hydropic and prenatally lethal type; grbgd; hem dysplasia; hem skeletal dysplasia; hydrops-ectopic calcification-motheaten syndrome; moth-eaten skeletal dysplasia; skeletal dysplasia, greenberg type","Curated_Disease_Description_Source__c":"GARD:0008754","Curated_Disease_Description__c":"Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features.","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:1426","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008974","ORPHANET_ID__c":"ORPHA:1426","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de greenberg","Spanish_Description_Source__c":"ORPHA:1426","Spanish_Description__c":"La displasia de Greenberg es un tipo muy poco frecuente de displasia letal caracterizada por hidropesía fetal, extremidades cortas y una calcificación anómala del tejido condroóseo. Esta enfermedad se caracteriza por una mortalidad intrauterina temprana, siendo los fetos afectados inviables.","Spanish_Disease_Name__c":"displasia de greenberg","Spanish_GARD_Synonym__c":"displasia esquelética, tipo greenberg; displasia hem; síndrome de hidropesía-calcificación ectópica-displasia esquelética apolillada","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":"Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features.","Curated_Disease_Description_Source__c":"GARD:0008754","GARD_Synonym__c":"chondrodystrophy, hydropic and prenatally lethal type; grbgd; hem dysplasia; hem skeletal dysplasia; hydrops-ectopic calcification-motheaten syndrome; moth-eaten skeletal dysplasia; skeletal dysplasia, greenberg type","Name":"Greenberg dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Helping After Neonatal Death (HAND)","Website__c":"http://www.handonline.org/resources/handgroups.html"},{"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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:1426"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:1426"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931048"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008754","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111588","Source__c":"MONDO:0008974","Xref__c":"DOID:0111588"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931048","Source__c":"C2931048","Xref__c":"C2931048"},{"URL__c":"https://www.omim.org/entry/215140","Source__c":"C2931048; MONDO:0008974; ORPHA:1426","Xref__c":"OMIM:215140"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=389261002","Source__c":"C2931048; MONDO:0008974","Xref__c":"389261002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535858","Source__c":"MONDO:0008974","Xref__c":"C535858"},{"URL__c":"https://www.orpha.net/en/disease/detail/1426","Source__c":"C2931048; MONDO:0008974; ORPHA:1426","Xref__c":"ORPHA:1426"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=418969","Source__c":"C2931048","Xref__c":"MEDGEN:418969"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008974","Source__c":"GARD:0008754","Xref__c":"MONDO:0008974"},{"URL__c":"https://medlineplus.gov/genetics/condition/greenberg-dysplasia","Source__c":"GARD:0008754","Xref__c":"https://medlineplus.gov/genetics/condition/greenberg-dysplasia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LBR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/lbr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008890","HPO_Name__c":"Severe short-limb dwarfism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001362","HPO_Synonym__c":"Cranial defect; Skull defect","HPO_Name__c":"Calvarial skull defect","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","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:1426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006619","HPO_Name__c":"Anterior rib punctate calcifications","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of leukocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001881","HPO_Synonym__c":"Abnormality of leukocytes","HPO_Name__c":"Abnormal leukocyte morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the magnitude or amount of ossification of the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004331","HPO_Synonym__c":"Decreased bone formation of skull; Deficient skull ossification; Hypoossification of skull; Ossification defect of skull; Poorly mineralized skull; Poorly ossified skull; Poorly ossified skull bones","HPO_Name__c":"Decreased skull ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","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:1426","HPO_Frequency__c":"Very frequent (80-99%)","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:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008905","HPO_Synonym__c":"Disproportionately short upper portion of limb; Rhizomelic dwarfism; Rhizomelic limb shortening; Rhizomelic short limbs; Rhizomelic short stature; Rhizomelic shortening; Short stature, rhizomelic; Symmetrical rhizomelic limb shortening","HPO_Name__c":"Rhizomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the formation and mineralization of one or more vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100569","HPO_Synonym__c":"Abnormal bone maturation of vertebra; Abnormal vertebral ossification; Abnormality of ossification/mineralisation of vertebrae","HPO_Name__c":"Abnormally ossified vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1426","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the formation and mineralization of any bone of the bony pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009106","HPO_Synonym__c":"Abnormal ossification involving the bones of the pelvis","HPO_Name__c":"Abnormal pelvis bone ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["chondrodystrophy, hydropic and prenatally lethal type"," grbgd"," hem dysplasia"," hem skeletal dysplasia"," hydrops-ectopic calcification-motheaten syndrome"," moth-eaten skeletal dysplasia"," skeletal dysplasia, greenberg type"]}