{"Name":"Microcephaly-albinism-digital anomalies syndrome","DiseaseID__c":"GARD:0003604","id":3604,"encodedName":"microcephaly-albinism-digital-anomalies-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microcephaly-albinism-digital anomalies syndrome","Xref_IDs__c":"719377004; C1859910; C537322; MEDGEN:395372; MONDO:0008750; OMIM:203340; ORPHA:2513","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008750","Disease_Description__c":"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.","GARD_Name__c":"Microcephaly-albinism-digital anomalies syndrome","GARD_Synonym__c":"castro gago pombo novo syndrome; castro gago-pombo-novo syndrome; microcephalus with albinism and digital anomaly syndrome; microcephaly with albinism and digital anomaly syndrome","Curated_Disease_Description_Source__c":"MONDO:0008750","Curated_Disease_Description__c":"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.","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:2513","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008750","ORPHANET_ID__c":"ORPHA:2513","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microcefalia-albinismo-anomalías digitales","Spanish_Description_Source__c":"ORPHA:2513","Spanish_Description__c":"El síndrome microcefalia - albinismo - anomalías digitales es un síndrome muy raro que asocia microcefalia, micrognatia, albinismo oculocutáneo, hipoplasia de la falange distal de los dedos de la mano y agenesia del extremo distal del dedo gordo del pie derecho.","Spanish_Disease_Name__c":"síndrome de microcefalia-albinismo-anomalías digitales","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":"Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.","Curated_Disease_Description_Source__c":"MONDO:0008750","GARD_Synonym__c":"castro gago pombo novo syndrome; castro gago-pombo-novo syndrome; microcephalus with albinism and digital anomaly syndrome; microcephaly with albinism and digital anomaly syndrome","Name":"Microcephaly-albinism-digital anomalies 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2513"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2513"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537322","Source__c":"MONDO:0008750","Xref__c":"C537322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395372","Source__c":"C1859910","Xref__c":"MEDGEN:395372"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859910","Source__c":"C1859910","Xref__c":"C1859910"},{"URL__c":"https://www.omim.org/entry/203340","Source__c":"C1859910; MONDO:0008750; ORPHA:2513","Xref__c":"OMIM:203340"},{"URL__c":"https://www.orpha.net/en/disease/detail/2513","Source__c":"C1859910; MONDO:0008750; ORPHA:2513","Xref__c":"ORPHA:2513"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719377004","Source__c":"C1859910; MONDO:0008750","Xref__c":"719377004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008750","Source__c":"GARD:0003604","Xref__c":"MONDO:0008750"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2513","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the distal phalanges of the toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010185","HPO_Synonym__c":"Absent/hypoplastic terminal phalanges of toes; Absent/small outermost bones of toe; Absent/underdeveloped outermost bones of toe","HPO_Name__c":"Aplasia/Hypoplasia of the distal phalanges of the toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2513","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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2513","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2513","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2513","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:2513","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2513","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["castro gago pombo novo syndrome"," castro gago-pombo-novo syndrome"," microcephalus with albinism and digital anomaly syndrome"," microcephaly with albinism and digital anomaly syndrome"]}