{"Name":"Jawad syndrome","DiseaseID__c":"GARD:0017410","id":17410,"encodedName":"jawad-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Jawad syndrome","Xref_IDs__c":"771470001; C0796063; MEDGEN:810673; MONDO:0009622; OMIM:251255; ORPHA:313795","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009622","Disease_Description__c":"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.","GARD_Name__c":"Jawad syndrome","GARD_Synonym__c":"jwds; kelly syndrome; microcephaly with impaired intellectual development and digital anomalies","Curated_Disease_Description_Source__c":"MONDO:0009622","Curated_Disease_Description__c":"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:313795","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009622","ORPHANET_ID__c":"ORPHA:313795","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de jawad","Spanish_Description_Source__c":"ORPHA:313795","Spanish_Description__c":"Es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por microcefalia congénita con dismorfia facial (frente inclinada, nariz prominente, leve retrognatia), discapacidad intelectual no progresiva, de moderada a grave y malformaciones simétricas de los dedos de grado variable, que incluyen braquidactilia de los quintos dedos con pliegue de flexión único, clinodactilia, sindactilia, polidactilia y hallux valgus. También se asocian anoniquia congénita y manchas blancas y café con leche en la piel de manos y pies.","Spanish_Disease_Name__c":"síndrome de jawad","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":"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.","Curated_Disease_Description_Source__c":"MONDO:0009622","GARD_Synonym__c":"jwds; kelly syndrome; microcephaly with impaired intellectual development and digital anomalies","Name":"Jawad syndrome","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":"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":"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":"Infancy","Provided_By__c":"ORPHA:313795"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:313795"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=810673","Source__c":"C0796063","Xref__c":"MEDGEN:810673"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796063","Source__c":"C0796063","Xref__c":"C0796063"},{"URL__c":"https://www.omim.org/entry/251255","Source__c":"C0796063; MONDO:0009622; ORPHA:313795","Xref__c":"OMIM:251255"},{"URL__c":"https://www.orpha.net/en/disease/detail/313795","Source__c":"C0796063; MONDO:0009622; ORPHA:313795","Xref__c":"ORPHA:313795"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009622","Source__c":"GARD:0017410","Xref__c":"MONDO:0009622"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771470001","Source__c":"C0796063","Xref__c":"771470001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RBBP8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"Lateral deviation of the great toe (i.e., in the direction of the little toe).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001822","HPO_Synonym__c":"Bunion; Lateral deviation of great toe; Lateral deviation of halluces","HPO_Name__c":"Hallux valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"Hypoplastic/small middle phalanx of the fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004220","HPO_Synonym__c":"5th finger middle phalangeal hypoplasia; Brachymesophalangism V; Brachymesophalangy V (finger); Fifth finger mid-phalanx hypoplasia; Hypoplastic fifth finger middle phalanx; Hypoplastic middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the 5th finger; Hypoplastic/small middle phalanx of the little finger; Short middle bone of the little finger; Short middle bone of the pinkie finger; Short middle bone of the pinky finger; Short middle phalanx of the little finger; Type A3 brachydactyly","HPO_Name__c":"Short middle phalanx of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002943","HPO_Name__c":"Thoracic scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006216","HPO_Synonym__c":"Fifth finger single interphalangeal crease","HPO_Name__c":"Single interphalangeal crease of fifth finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"Syndactyly with fusion of toes four and five.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004692","HPO_Synonym__c":"Symmetric syndactyly, toes 4 and 5; Syndactyly of toes 4 and 5; Webbed 4th-5th toes","HPO_Name__c":"4-5 toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011451","HPO_Synonym__c":"Congenital decreased head circumference; Congenital microcephaly; Congenital small skull; Decreased head circumference present at birth; Microcephaly present at birth; Small cranium present at birth","HPO_Name__c":"Primary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100259","HPO_Synonym__c":"Polydactyly, postaxial; Postaxial hexadactyly","HPO_Name__c":"Postaxial polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"Absence of the distal interphalangeal flexion creases of the fourth finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005780","HPO_Synonym__c":"No fourth finger distal interphalangeal crease","HPO_Name__c":"Absent fourth finger distal interphalangeal crease","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","Feature__r":{"HPO_Description__c":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000448","HPO_Synonym__c":"Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose","HPO_Name__c":"Prominent nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251255","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["jwds"," kelly syndrome"," microcephaly with impaired intellectual development and digital anomalies"]}