{"Name":"Distal arthrogryposis type 5D","DiseaseID__c":"GARD:0013059","id":13059,"encodedName":"distal-arthrogryposis-type-5d","IsDeleted":false,"Disease_Name_Full__c":"Distal arthrogryposis type 5D","Xref_IDs__c":"773396009; C3554415; DOID:0111594; MEDGEN:767329; MONDO:0014028; OMIM:615065; ORPHA:329457","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014028","Disease_Description__c":"Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.","GARD_Name__c":"Distal arthrogryposis type 5D","GARD_Synonym__c":"da5d; da5d - distal arthrogryposis type 5d; distal arthrogryposis caused by mutation in ecel1; distal arthrogryposis type 5 without ophthalmoparesis; distal arthrogryposis type 5 without ophthalmoplegia; ecel1 distal arthrogryposis","Curated_Disease_Description_Source__c":"MONDO:0014028","Curated_Disease_Description__c":"Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:329457","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014028","ORPHANET_ID__c":"ORPHA:329457","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Artrogriposis distal tipo 5d","Spanish_Description_Source__c":"ORPHA:329457","Spanish_Description__c":"La artrogriposis distal tipo 5D es un subtipo poco frecuente de síndrome de artrogriposis distal caracterizado por artrogriposis congénita múltiple que afecta a manos, pies, tobillos, hombros y/o cuello, con camptodactilia de los dedos de la mano y extensión limitada de rodilla y cadera. Se asocia también a ptosis asimétrica y, con menor frecuencia, a otras manifestaciones oculares (p. ej. oftalmoplejía, estrabismo). Con frecuencia, los afectados presentan nariz bulbosa, lengua fisurada, micro / retrognacia, cuello corto, luxación congénita de cadera, pie equinovaro, escoliosis y talla baja.","Spanish_Disease_Name__c":"artrogriposis distal tipo 5d","Spanish_GARD_Synonym__c":"artrogriposis distal tipo 5 sin oftalmoparesia; artrogriposis distal tipo 5 sin oftalmoplejía; da5d","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":"Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.","Curated_Disease_Description_Source__c":"MONDO:0014028","GARD_Synonym__c":"da5d; da5d - distal arthrogryposis type 5d; distal arthrogryposis caused by mutation in ecel1; distal arthrogryposis type 5 without ophthalmoparesis; distal arthrogryposis type 5 without ophthalmoplegia; ecel1 distal arthrogryposis","Name":"Distal arthrogryposis type 5D","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.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:329457"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3554415"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/615065","Source__c":"C3554415; MONDO:0014028; ORPHA:329457","Xref__c":"OMIM:615065"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111594","Source__c":"MONDO:0014028","Xref__c":"DOID:0111594"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767329","Source__c":"C3554415","Xref__c":"MEDGEN:767329"},{"URL__c":"https://www.orpha.net/en/disease/detail/329457","Source__c":"C3554415; MONDO:0014028; ORPHA:329457","Xref__c":"ORPHA:329457"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554415","Source__c":"C3554415","Xref__c":"C3554415"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014028","Source__c":"GARD:0013059","Xref__c":"MONDO:0014028"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773396009","Source__c":"C3554415","Xref__c":"773396009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ECEL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Wasting of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012473","HPO_Synonym__c":"Atrophy of the tongue; Lingual atrophy; Lingual wasting; Wasting of the tongue","HPO_Name__c":"Tongue atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","Feature__r":{"HPO_Description__c":"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002553","HPO_Synonym__c":"Arched eyebrows; Broad, arched eyebrows; High, rounded eyebrows; High-arched eyebrows; Highly arched eyebrow; Thick, flared eyebrows","HPO_Name__c":"Highly arched eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","Feature__r":{"HPO_Description__c":"The facial appearance is more circular than usual as viewed from the front.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000311","HPO_Synonym__c":"Circular face; Round face; Round facial appearance; Round facial shape; Round facies","HPO_Name__c":"Round face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A limitation of the range of movement of the shoulder joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006467","HPO_Synonym__c":"Limited shoulder movement","HPO_Name__c":"Limited shoulder movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006201","HPO_Synonym__c":"Increased mobility of outermost hinge joint","HPO_Name__c":"Hypermobility of distal interphalangeal joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001848","HPO_Synonym__c":"Calcaneovalgus; Calcaneovalgus Foot; Valgus position of the calcaneus","HPO_Name__c":"Calcaneovalgus deformity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Undergrowth of the outer labia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000059","HPO_Synonym__c":"Hypoplasia of labia majora; Small labia majora; Underdeveloped vaginal lips","HPO_Name__c":"Hypoplastic labia majora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to flex (bend) the knee joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006389","HPO_Name__c":"Limited knee flexion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003199","HPO_Synonym__c":"Decreased muscle mass","HPO_Name__c":"Decreased muscle mass","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","Feature__r":{"HPO_Description__c":"Accentuation of the grooves on the dorsal surface of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000221","HPO_Synonym__c":"Fissured tongue; Grooved tongue; Lingua plicata; Lingual furrow; Plicated tongue; Prominent tongue grooves; Scrotal tongue","HPO_Name__c":"Furrowed tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","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":"OMIM:615065","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A facial appearance characterized by a permanently or nearly permanently opened mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000194","HPO_Synonym__c":"Gaped jawed appearance; Gaped mouthed appearance; Open mouth; Slack jawed appearance","HPO_Name__c":"Open mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","Feature__r":{"HPO_Description__c":"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001181","HPO_Synonym__c":"Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern","HPO_Name__c":"Adducted thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002996","HPO_Synonym__c":"Decreased elbow mobility; Limited elbow mobility; Limited elbow movement; Restricted elbow motion","HPO_Name__c":"Limited elbow movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","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":"OMIM:615065","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001374","HPO_Synonym__c":"Congenital dislocation of the hip; Congenital dislocation of the hips; Congenital hip anomaly; Congenital hip dislocations; Dislocated hip since birth","HPO_Name__c":"Congenital hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","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":"OMIM:615065","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the eyelids do not close to cover the eye completely.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030001","HPO_Synonym__c":"Eyelids stay open; Inability to close the eyelids","HPO_Name__c":"Lagophthalmos","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615065","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012385","HPO_Synonym__c":"Permanent flexion of the finger or toe","HPO_Name__c":"Camptodactyly","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":["da5d"," da5d - distal arthrogryposis type 5d"," distal arthrogryposis caused by mutation in ecel1"," distal arthrogryposis type 5 without ophthalmoparesis"," distal arthrogryposis type 5 without ophthalmoplegia"," ecel1 distal arthrogryposis"]}