{"Name":"Autosomal recessive distal osteolysis syndrome","DiseaseID__c":"GARD:0004299","id":4299,"encodedName":"autosomal-recessive-distal-osteolysis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive distal osteolysis syndrome","Xref_IDs__c":"715487005; C1850143; C536052; MEDGEN:376714; MONDO:0009810; OMIM:259610; ORPHA:2776","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009810","Disease_Description__c":"An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.","GARD_Name__c":"Autosomal recessive distal osteolysis syndrome","GARD_Synonym__c":"distal osteolysis-short stature-intellectual disability syndrome; distal osteolysis, short stature and intellectual disability; petit fryns syndrome; petit-fryns syndrome","Curated_Disease_Description_Source__c":"ORPHA:2776","Curated_Disease_Description__c":"An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2776","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009810","ORPHANET_ID__c":"ORPHA:2776","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de osteólisis distal autosómica recesiva","Spanish_Description_Source__c":"ORPHA:2776","Spanish_Description__c":"Es una osteolisis de inicio precoz caracterizada por una grave reabsorción ósea de las manos y los pies y por la ausencia de las falanges distales y medias. Se ha descrito en un niño y en una niña nacidos de padres consanguíneos. Otras manifestaciones incluyen la hipertrofia distal muscular, las contracturas en flexión, la talla baja, un aleve discapacidad intelectual y una facies característica (hipoplasia maxilar, exoftalmos, y punta de la nariz ancha). Se transmite como un rasgo autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de osteólisis distal autosómica recesiva","Spanish_GARD_Synonym__c":"síndrome de osteólisis distal-talla baja-discapacidad intelectual; síndrome de petit-fryns","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 early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.","Curated_Disease_Description_Source__c":"ORPHA:2776","GARD_Synonym__c":"distal osteolysis-short stature-intellectual disability syndrome; distal osteolysis, short stature and intellectual disability; petit fryns syndrome; petit-fryns syndrome","Name":"Autosomal recessive distal osteolysis 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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2776"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850143","Source__c":"C1850143","Xref__c":"C1850143"},{"URL__c":"https://www.omim.org/entry/259610","Source__c":"C1850143; MONDO:0009810; ORPHA:2776","Xref__c":"OMIM:259610"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715487005","Source__c":"C1850143; MONDO:0009810","Xref__c":"715487005"},{"URL__c":"https://www.orpha.net/en/disease/detail/2776","Source__c":"C1850143; MONDO:0009810; ORPHA:2776","Xref__c":"ORPHA:2776"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376714","Source__c":"C1850143","Xref__c":"MEDGEN:376714"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536052","Source__c":"MONDO:0009810","Xref__c":"C536052"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009810","Source__c":"GARD:0004299","Xref__c":"MONDO:0009810"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2776","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2776","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":"ORPHA:2776","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2776","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in width of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000455","HPO_Synonym__c":"Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose","HPO_Name__c":"Broad nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2776","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:2776","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2776","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2776","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2776","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["distal osteolysis-short stature-intellectual disability syndrome"," distal osteolysis, short stature and intellectual disability"," petit fryns syndrome"," petit-fryns syndrome"]}