{"Name":"Hecht syndrome","DiseaseID__c":"GARD:0002621","id":2621,"encodedName":"hecht-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hecht syndrome","Xref_IDs__c":"8757006; C0265226; C535857; DOID:0111603; MEDGEN:78540; MONDO:0008016; OMIM:158300; ORPHA:3377","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0002621","Disease_Description__c":"Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus). TPS is typically reported to be inherited in an autosomal dominant manner and is caused by genetic changes in the MYH8 gene.","GARD_Name__c":"Hecht syndrome","GARD_Synonym__c":"da7; distal arthrogryposis type 7; dutch kentucky syndrome; dutch-kentucky syndrome; hecht beals syndrome; hecht-beals syndrome; mouth, inability to open completely, and short finger-flexor tendons; trismus pseudocamptodactyly syndrome; trismus-pseudocamptodactyly syndrome","Curated_Disease_Description_Source__c":"GARD:0002621","Curated_Disease_Description__c":"A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3377","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008016","ORPHANET_ID__c":"ORPHA:3377","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trismo-pseudocamptodactilia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de trismo-pseudocamptodactilia","Spanish_GARD_Synonym__c":"artrogriposis distal tipo 7; síndrome de dutch-kentucky; síndrome de hecht; síndrome de hecht-beals","Category_Linearization__c":"ORPHA:93890","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":"A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.","Curated_Disease_Description_Source__c":"GARD:0002621","GARD_Synonym__c":"da7; distal arthrogryposis type 7; dutch kentucky syndrome; dutch-kentucky syndrome; hecht beals syndrome; hecht-beals syndrome; mouth, inability to open completely, and short finger-flexor tendons; trismus pseudocamptodactyly syndrome; trismus-pseudocamptodactyly syndrome","Name":"Hecht syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Reach: The Association for Children with Hand or Arm Deficiency","Website__c":"https://www.reach.org.uk/"},{"Account_Name__c":"The Arthrogryposis Group","Website__c":"http://www.arthrogryposis.co.uk/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Ameriface","Website__c":"http://www.ameriface.org"}],"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3377"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3377"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265226"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002621","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111603","Source__c":"MONDO:0008016","Xref__c":"DOID:0111603"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=8757006","Source__c":"C0265226; MONDO:0008016","Xref__c":"8757006"},{"URL__c":"https://www.omim.org/entry/158300","Source__c":"C0265226; MONDO:0008016; ORPHA:3377","Xref__c":"OMIM:158300"},{"URL__c":"https://www.orpha.net/en/disease/detail/3377","Source__c":"C0265226; MONDO:0008016; ORPHA:3377","Xref__c":"ORPHA:3377"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535857","Source__c":"MONDO:0008016","Xref__c":"C535857"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78540","Source__c":"C0265226","Xref__c":"MEDGEN:78540"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265226","Source__c":"C0265226","Xref__c":"C0265226"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008016","Source__c":"GARD:0002621","Xref__c":"MONDO:0008016"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYH8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3377","HPO_Frequency__c":"Occasional (5-29%)","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:3377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3377","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003011","HPO_Synonym__c":"Muscular abnormality","HPO_Name__c":"Abnormality of the musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3377","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":"ORPHA:3377","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:3377","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["da7"," distal arthrogryposis type 7"," dutch kentucky syndrome"," dutch-kentucky syndrome"," hecht beals syndrome"," hecht-beals syndrome"," mouth, inability to open completely, and short finger-flexor tendons"," trismus pseudocamptodactyly syndrome"," trismus-pseudocamptodactyly syndrome"]}