{"Name":"Macrosomia-microphthalmia-cleft palate syndrome","DiseaseID__c":"GARD:0000177","id":177,"encodedName":"macrosomia-microphthalmia-cleft-palate-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Macrosomia-microphthalmia-cleft palate syndrome","Xref_IDs__c":"C1855467; C537830; MEDGEN:340874; MONDO:0009547; OMIM:248110; ORPHA:2432","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009547","Disease_Description__c":"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.","GARD_Name__c":"Macrosomia-microphthalmia-cleft palate syndrome","GARD_Synonym__c":"macrosomia microphthalmia cleft palate; teebi al-saleh hassoon syndrome; teebi-al saleh-hassoon syndrome","Curated_Disease_Description_Source__c":"MONDO:0009547","Curated_Disease_Description__c":"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2432","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009547","ORPHANET_ID__c":"ORPHA:2432","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de macrosomía-microftalmia-paladar hendido","Spanish_Description_Source__c":"ORPHA:2432","Spanish_Description__c":"El síndrome de microsomía - microftalmia - paladar hendido, es un síndrome dismórfico por múltiples anomalías congénitas, genético y poco frecuente, caracterizado por macrosomía precoz, microftalmia bilateral grave y abdomen protuberante con hepatomegalia. Otras características adicionales descritas incluyen braquicefalia, fontanelas grandes, frente prominente, nariz respingona y hendidura del paladar medio. Los episodios de apnea cianótica y la infección generalizada causan la muerte en los primeros seis meses de vida. No ha habido más casos descritos en la literatura desde 1989.","Spanish_Disease_Name__c":"síndrome de macrosomía-microftalmia-paladar hendido","Spanish_GARD_Synonym__c":"síndrome de teebi-al saleh-hassoon","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":"Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.","Curated_Disease_Description_Source__c":"MONDO:0009547","GARD_Synonym__c":"macrosomia microphthalmia cleft palate; teebi al-saleh hassoon syndrome; teebi-al saleh-hassoon syndrome","Name":"Macrosomia-microphthalmia-cleft palate 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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Otolaryngology","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:2432"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2432"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2432","Source__c":"C1855467; MONDO:0009547","Xref__c":"ORPHA:2432"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340874","Source__c":"C1855467","Xref__c":"MEDGEN:340874"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537830","Source__c":"MONDO:0009547","Xref__c":"C537830"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855467","Source__c":"C1855467","Xref__c":"C1855467"},{"URL__c":"https://www.omim.org/entry/248110","Source__c":"C1855467; MONDO:0009547; ORPHA:2432","Xref__c":"OMIM:248110"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009547","Source__c":"GARD:0000177","Xref__c":"MONDO:0009547"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000337","HPO_Synonym__c":"Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead","HPO_Name__c":"Broad forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001520","HPO_Synonym__c":"Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Macrosomia; Macrosomia, neonatal","HPO_Name__c":"Large for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002683","HPO_Synonym__c":"Abnormality of calvarium; Abnormality of cranial vault; Abnormality of the calvaria; Abnormality of the shape of calvarium; Abnormality of the skull cap; Abnormality of the skullcap","HPO_Name__c":"Abnormal calvaria morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000235","HPO_Synonym__c":"Abnormality of the fontanelles or cranial sutures","HPO_Name__c":"Abnormal cranial suture/fontanelle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate of the midline of the palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009099","HPO_Synonym__c":"Central cleft palate; Midline cleft palate","HPO_Name__c":"Median cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2432","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["macrosomia microphthalmia cleft palate"," teebi al-saleh hassoon syndrome"," teebi-al saleh-hassoon syndrome"]}