{"Name":"Sclerosteosis","DiseaseID__c":"GARD:0004771","id":4771,"encodedName":"sclerosteosis","IsDeleted":false,"Disease_Name_Full__c":"Sclerosteosis","Xref_IDs__c":"17568006; C0265301; C131133; C537525; DOID:0060251; MEDGEN:120530; MONDO:0017838; OMIMPS:269500; ORPHA:3152","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017838","Disease_Description__c":"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","GARD_Name__c":"Sclerosteosis","GARD_Synonym__c":"cortical hyperostosis with syndactyly; cortical hyperostosis-syndactyly syndrome","Curated_Disease_Description_Source__c":"MONDO:0017838","Curated_Disease_Description__c":"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as a Child","SourceID__c":"ORPHA:3152","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017838","ORPHANET_ID__c":"ORPHA:3152","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Esclerosteosis","Spanish_Description_Source__c":"ORPHA:3152","Spanish_Description__c":"Es un síndrome de hiperostosis esclerosante grave y muy poco frecuente que se caracteriza clínicamente por sindactilia variable e hipercrecimiento esquelético progresivo (en particular del cráneo), lo que provoca rasgos faciales distintivos (hipercrecimiento mandibular, frente prominente, hipoplasia medio facial), atrapamiento de nervios craneales que provoca parálisis facial y sordera, y elevación potencialmente letal de la presión intracraneal.","Spanish_Disease_Name__c":"esclerosteosis","Spanish_GARD_Synonym__c":"hiperostosis cortical sindactilia","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":"Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.","Curated_Disease_Description_Source__c":"MONDO:0017838","GARD_Synonym__c":"cortical hyperostosis with syndactyly; cortical hyperostosis-syndactyly syndrome","Name":"Sclerosteosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Childhood","Provided_By__c":"ORPHA:3152"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3152"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265301"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004771","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060251","Source__c":"MONDO:0017838","Xref__c":"DOID:0060251"},{"URL__c":"https://www.orpha.net/en/disease/detail/3152","Source__c":"C0265301; MONDO:0017838; ORPHA:3152","Xref__c":"ORPHA:3152"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537525","Source__c":"MONDO:0017838","Xref__c":"C537525"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265301","Source__c":"C0265301","Xref__c":"C0265301"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120530","Source__c":"C0265301","Xref__c":"MEDGEN:120530"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131133","Source__c":"C0265301; MONDO:0017838","Xref__c":"C131133"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17568006","Source__c":"C0265301; MONDO:0017838","Xref__c":"17568006"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS269500","Source__c":"MONDO:0017838","Xref__c":"OMIMPS:269500"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017838","Source__c":"GARD:0004771","Xref__c":"MONDO:0017838"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LRP4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SOST","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sost","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100798","HPO_Synonym__c":"Abnormal fingernail development; Dysplastic fingernails","HPO_Name__c":"Fingernail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005019","HPO_Synonym__c":"Diaphyseal widening; Thickening of shaft or central part of long bones; Undertubulated long bones; Undertubulation of diaphyses","HPO_Name__c":"Diaphyseal undertubulation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009838","HPO_Synonym__c":"Curved outermost finger bone of the hand","HPO_Name__c":"Curved distal phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000366","HPO_Synonym__c":"Abnormality of the nose; Anomaly of the nose; Nasal abnormality; Nasal anomaly","HPO_Name__c":"Abnormality of the nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001233","HPO_Synonym__c":"Syndactyly 2nd-3rd fingers; Syndactyly, 2-3 finger; Webbed 2nd-3rd fingers","HPO_Name__c":"2-3 finger cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive growth of the craniofacial bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004493","HPO_Synonym__c":"Excessive bone growth of the skull and face; Hyperostosis of craniofacial bones; Increased ossification of craniofacial bones","HPO_Name__c":"Craniofacial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3152","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003103","HPO_Synonym__c":"Abnormal compact bone morphology; Abnormality of cortical bone","HPO_Name__c":"Abnormal cortical bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["cortical hyperostosis with syndactyly"," cortical hyperostosis-syndactyly syndrome"]}