{"Name":"Bent bone dysplasia syndrome 1","DiseaseID__c":"GARD:0010965","id":10965,"encodedName":"bent-bone-dysplasia-syndrome-1","IsDeleted":false,"Disease_Name_Full__c":"Bent bone dysplasia syndrome 1","Xref_IDs__c":"C3281247; DOID:0060992; MEDGEN:482877; MONDO:0013815; OMIM:614592; ORPHA:313855","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":"GARD:0010965","Disease_Description__c":"Bent bone dysplasia syndrome is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with genetic changes in the FGFR2 gene.","GARD_Name__c":"Bent bone dysplasia syndrome 1","GARD_Synonym__c":"bbds1; fgfr2-related bent bone dysplasia; perinatal lethal bent bone dysplasia","Curated_Disease_Description_Source__c":"GARD:0010965","Curated_Disease_Description__c":"FGFR2-related bent bone dysplasia is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with genetic changes in the FGFR2 gene.","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:313855","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013815","ORPHANET_ID__c":"ORPHA:313855","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia con huesos incurvados asociada al gen fgfr2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia con huesos incurvados asociada al gen fgfr2","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":"FGFR2-related bent bone dysplasia is an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely spaced eyes (hypertelorism), midface hypoplasia, prematurely erupted fetal teeth, and small chin (micrognathia). This condition is associated with genetic changes in the FGFR2 gene.","Curated_Disease_Description_Source__c":"GARD:0010965","GARD_Synonym__c":"bbds1; fgfr2-related bent bone dysplasia; perinatal lethal bent bone dysplasia","Name":"Bent bone dysplasia syndrome 1","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/"}],"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":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:313855"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:313855"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3281247"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010965","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1455","Source__c":"Gene Review","Xref__c":"NBK1455"},{"URL__c":"https://www.orpha.net/en/disease/detail/313855","Source__c":"C3281247; MONDO:0013815","Xref__c":"ORPHA:313855"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482877","Source__c":"C3281247","Xref__c":"MEDGEN:482877"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3281247","Source__c":"C3281247","Xref__c":"C3281247"},{"URL__c":"https://www.omim.org/entry/614592","Source__c":"C3281247; MONDO:0013815; ORPHA:313855","Xref__c":"OMIM:614592"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060992","Source__c":"MONDO:0013815","Xref__c":"DOID:0060992"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013815","Source__c":"GARD:0010965","Xref__c":"MONDO:0013815"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGFR2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgfr2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005474","HPO_Synonym__c":"Poorly ossified calvaria; Poorly ossified calvarium; Soft calvaria; Soft skullcap; Undermineralized calvarium","HPO_Name__c":"Decreased calvarial ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001591","HPO_Synonym__c":"Bell-shaped chest; Constricted, bell-shaped thorax; Narrow, bell-shaped thorax","HPO_Name__c":"Bell-shaped thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced length of the clavicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000894","HPO_Synonym__c":"Clavicular hypoplasia; Hypoplastic clavicles; Short collarbone; Underdeveloped clavicles","HPO_Name__c":"Short clavicles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ischium, which forms the lower and back part of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003175","HPO_Synonym__c":"Hypoplastic ischial bones; Hypoplastic ischii; Hypoplastic ischium","HPO_Name__c":"Hypoplastic ischia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the superior portion of the helix is folded over to a greater degree than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004453","HPO_Synonym__c":"Overfolding of superior helix","HPO_Name__c":"Overfolding of the superior helices","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","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:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000485","HPO_Synonym__c":"Anterior megalophthalmos; Enlarged cornea; Increased corneal diameter; Macrocornea","HPO_Name__c":"Megalocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","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:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tooth present at birth or erupting within the first month of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000695","HPO_Synonym__c":"Born with teeth; Natal teeth; Neonatal teeth; Teeth present at birth","HPO_Name__c":"Natal tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030313","HPO_Name__c":"Abnormal periosteum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Premature closure of the coronal suture of skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004440","HPO_Synonym__c":"Coronal suture craniosynostosis; Coronal suture synostosis; Craniosynostosis of coronal suture","HPO_Name__c":"Coronal craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","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:313855","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000356","HPO_Synonym__c":"Abnormal pinnae; Abnormality of the auricle; Abnormality of the external ear; Abnormality of the outer ear; Ear anomalies; External ear malformation; External ear malformations; Malformed pinnae; Outer ear abnormality","HPO_Name__c":"Abnormality of the outer ear","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010455","HPO_Name__c":"Steep acetabular roof","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature affecting a long bone of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002979","HPO_Synonym__c":"Bow legs; Bow-leggedness; Bowed legs; Bowed lower limbs","HPO_Name__c":"Bowing of the legs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001978","HPO_Name__c":"Extramedullary hematopoiesis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007642","HPO_Synonym__c":"Congenital night blindness; Congenital stationary night blindness; Night blindness since birth","HPO_Name__c":"Early-onset non-progressive night blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to complete ossification (maturation and calcification) of the pubic bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030042","HPO_Name__c":"Incomplete ossification of pubis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:313855","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Linear vertical groove in the midline of the forehead, extending from hairline to glabella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011223","HPO_Synonym__c":"Depression of frontal cranial suture; Depression of metopic cranial suture; Frontal suture depression","HPO_Name__c":"Metopic depression","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["bbds1"," fgfr2-related bent bone dysplasia"," perinatal lethal bent bone dysplasia"]}