{"Name":"Craniodigital syndrome and intellectual disability syndrome","DiseaseID__c":"GARD:0004776","id":4776,"encodedName":"craniodigital-syndrome-and-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Craniodigital syndrome and intellectual disability syndrome","Xref_IDs__c":"763665007; C1839311; C537528; MEDGEN:333293; MONDO:0015463; ORPHA:1514","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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015463","Disease_Description__c":"Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.","GARD_Name__c":"Craniodigital syndrome and intellectual disability syndrome","GARD_Synonym__c":"craniodigital syndrome-intellectual disability syndrome; craniodigital-intellectual disability syndrome; scott bryant graham syndrome; scott craniodigital syndrome; scott-bryant-graham syndrome","Curated_Disease_Description_Source__c":"MONDO:0015463","Curated_Disease_Description__c":"Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1514","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015463","ORPHANET_ID__c":"ORPHA:1514","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome craneodigital-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:1514","Spanish_Description__c":"El síndrome craneodigital – déficit intelectual se caracteriza por: sindactilia de los dedos de manos y pies, facies característica (expresión facial 'asustada'' con una nariz pequeña y puntiaguda, micrognatia, pestañas largas y oscuras, y cejas espesas) y déficit intelectual.","Spanish_Disease_Name__c":"síndrome craneodigital-discapacidad intelectual","Spanish_GARD_Synonym__c":"síndrome craneodigital de scott; síndrome de scott-bryant-graham","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":"Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.","Curated_Disease_Description_Source__c":"MONDO:0015463","GARD_Synonym__c":"craniodigital syndrome-intellectual disability syndrome; craniodigital-intellectual disability syndrome; scott bryant graham syndrome; scott craniodigital syndrome; scott-bryant-graham syndrome","Name":"Craniodigital syndrome and intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.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":"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":"Neonatal","Provided_By__c":"ORPHA:1514"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1839311"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839311","Source__c":"C1839311","Xref__c":"C1839311"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763665007","Source__c":"C1839311; MONDO:0015463","Xref__c":"763665007"},{"URL__c":"https://www.orpha.net/en/disease/detail/1514","Source__c":"C1839311; MONDO:0015463; ORPHA:1514","Xref__c":"ORPHA:1514"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537528","Source__c":"MONDO:0015463","Xref__c":"C537528"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333293","Source__c":"C1839311","Xref__c":"MEDGEN:333293"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015463","Source__c":"GARD:0004776","Xref__c":"MONDO:0015463"}],"Inheritance__c":["Autosomal recessive","X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased width of the bony bridge of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000446","HPO_Synonym__c":"Narrow bridge of nose; Narrow nasal bridge; Narrow nasal root; Nasal Bridge, Narrow; Nasal bridge, thin","HPO_Name__c":"Narrow nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","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:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, 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 fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007477","HPO_Synonym__c":"Abnormal fingerprints; Dermatoglyphic abnormalities","HPO_Name__c":"Abnormal dermatoglyphics","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased density of hairs, i.e., and elevated number of hairs per unit area.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100874","HPO_Synonym__c":"Increased follicular density; Increased hair density; Thick hair","HPO_Name__c":"Thick hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","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":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the distribution of hair growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010720","HPO_Synonym__c":"Abnormal distribution of hair; Abnormal hair pattern","HPO_Name__c":"Abnormal hair pattern","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased density/number and/or increased diameter of eyebrow hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000574","HPO_Synonym__c":"Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows","HPO_Name__c":"Thick eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000527","HPO_Synonym__c":"Ciliary trichomegaly; Eyelash trichomegaly; Increased length of eyelashes; Long eyelashes; Unusually long eyelashes","HPO_Name__c":"Long eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth over much of the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002230","HPO_Synonym__c":"Excessive hairiness over body","HPO_Name__c":"Generalized hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1514","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["craniodigital syndrome-intellectual disability syndrome"," craniodigital-intellectual disability syndrome"," scott bryant graham syndrome"," scott craniodigital syndrome"," scott-bryant-graham syndrome"]}