{"Name":"Jackson-Weiss syndrome","DiseaseID__c":"GARD:0006796","id":6796,"encodedName":"jackson-weiss-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Jackson-Weiss syndrome","Xref_IDs__c":"709105005; C0795998; C123814; C537559; DOID:0111337; MEDGEN:208653; MONDO:0007400; OMIM:123150; ORPHA:1540","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007400","Disease_Description__c":"Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.","GARD_Name__c":"Jackson-Weiss syndrome","GARD_Synonym__c":"craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; craniosynostosis, midfacial hypoplasia, and foot abnormalities; jws","Curated_Disease_Description_Source__c":"GARD:0006796","Curated_Disease_Description__c":"Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal. Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1540","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007400","ORPHANET_ID__c":"ORPHA:1540","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de jackson-weiss","Spanish_Description_Source__c":"ORPHA:1540","Spanish_Description__c":"Es un trastorno genético poco frecuente caracterizado por malformaciones en el pie (fusiones tarsianas y metatarsianas; primeros dedos de los pies cortos, anchos y desviados medialmente) y, en algunos afectados, craneosinostosis con anomalías faciales. Las manos de los afectados presentan un fenotipo normal.","Spanish_Disease_Name__c":"síndrome de jackson-weiss","Spanish_GARD_Synonym__c":null,"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":"Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal. Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.","Curated_Disease_Description_Source__c":"GARD:0006796","GARD_Synonym__c":"craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; craniosynostosis, midfacial hypoplasia, and foot abnormalities; jws","Name":"Jackson-Weiss syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Craniosynostosis and Positional Plagiocephaly Support Inc","Website__c":"https://www.cappskids.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":"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":"Neonatal","Provided_By__c":"ORPHA:1540"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0795998"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006796","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1455","Source__c":"Gene Review","Xref__c":"NBK1455"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=709105005","Source__c":"C0795998; MONDO:0007400","Xref__c":"709105005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111337","Source__c":"MONDO:0007400","Xref__c":"DOID:0111337"},{"URL__c":"https://www.orpha.net/en/disease/detail/1540","Source__c":"C0795998; MONDO:0007400; ORPHA:1540","Xref__c":"ORPHA:1540"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795998","Source__c":"C0795998","Xref__c":"C0795998"},{"URL__c":"https://www.omim.org/entry/123150","Source__c":"C0795998; MONDO:0007400; ORPHA:1540","Xref__c":"OMIM:123150"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=208653","Source__c":"C0795998","Xref__c":"MEDGEN:208653"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123814","Source__c":"C0795998; MONDO:0007400","Xref__c":"C123814"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537559","Source__c":"MONDO:0007400","Xref__c":"C537559"},{"URL__c":"https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome","Source__c":"GARD:0006796","Xref__c":"https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007400","Source__c":"GARD:0006796","Xref__c":"MONDO:0007400"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGFR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgfr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"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:1540","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010743","HPO_Synonym__c":"Hypoplasia of the metatarsal bones; Hypoplastic metatarsals; Short long bone of foot; Short metatarsal bone; Short metatarsals; Shortened metatarsals","HPO_Name__c":"Short metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Frequent (30-79%)","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:1540","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:1540","HPO_Frequency__c":"Frequent (30-79%)","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:1540","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Duplication of all or part of the first ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001841","HPO_Synonym__c":"Partial/complete duplication of the phalanges of the big toe; Polydactyly affecting the hallux; Preaxial hallucal polydactyly; Preaxial polydactyly of feet; Preaxial polydactyly of foot; Preaxial polydactyly of the feet; Preaxial polydactyly, feet","HPO_Name__c":"Preaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","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:1540","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the calf bone (fibula), one of the two bones of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002991","HPO_Synonym__c":"Abnormality of fibula morphology; Abnormality of the calf bone","HPO_Name__c":"Abnormal fibula morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes two and three.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004691","HPO_Synonym__c":"2-3 syndactyly of feet; 2-3 toe soft tissue syndactyly; 2-3 toes syndactyly; partial or complete syndactyly 2nd-3rd toes; Syndactyly of second and third toes; Toe syndactyly, 2-3; Webbed 2nd and 3rd toes","HPO_Name__c":"2-3 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Frequent (30-79%)","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:1540","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the palate, i.e., of roof of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000174","HPO_Synonym__c":"Abnormality of the palate; Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality","HPO_Name__c":"Abnormal palate morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased side-to-side width of a metatarsal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001783","HPO_Synonym__c":"Wide long bone of foot","HPO_Name__c":"Broad metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000444","HPO_Synonym__c":"Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity","HPO_Name__c":"Convex nasal ridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","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:1540","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Flatness of the supraorbital portion of the frontal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009891","HPO_Synonym__c":"Depressed supraorbital margins; Depressed supraorbital ridge; Flat supraorbital margins; Flat supraorbital ridge; Flattened bony protrusion above eyes; Hypoplasia of supraorbital margins; Hypoplasia of the supraorbital ridges; Hypoplastic supraorbital ridges; Shallow orbital ridges; Shallow supraorbital ridge","HPO_Name__c":"Underdeveloped supraorbital ridges","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tall head relative to width and length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000262","HPO_Synonym__c":"Tall shaped cranium; Tall shaped skull; Tower cranium shape; Tower skull shape; Turricephalus","HPO_Name__c":"Turricephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1540","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in width in one or more phalanges of the big toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010059","HPO_Synonym__c":"Broad bone of big toe; Broad phalanges of the hallux; Wide bone of big toe","HPO_Name__c":"Broad hallux phalanx","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":["craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome"," craniosynostosis, midfacial hypoplasia, and foot abnormalities"," jws"]}