{"Name":"Bamforth-Lazarus syndrome","DiseaseID__c":"GARD:0000414","id":414,"encodedName":"bamforth-lazarus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Bamforth-Lazarus syndrome","Xref_IDs__c":"722375007; C1855794; C537901; DOID:0050655; MEDGEN:343420; MONDO:0009437; OMIM:241850; ORPHA:1226","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009437","Disease_Description__c":"A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.","GARD_Name__c":"Bamforth-Lazarus syndrome","GARD_Synonym__c":"athyroidal hypothyroidism with spiky hair and cleft palate; athyroidal hypothyroidism with spiky hair and cleft palate syndrome; athyroidal hypothyroidism-spiky hair-cleft palate syndrome; bamforth lazarus syndrome; bamforth syndrome; hypothyroidism and cleft palate syndrome; hypothyroidism-cleft palate syndrome; hypothyroidism, athyroidal, with spiky hair and cleft palate","Curated_Disease_Description_Source__c":"MONDO:0009437","Curated_Disease_Description__c":"A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.","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:1226","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009437","ORPHANET_ID__c":"ORPHA:1226","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bamforth","Spanish_Description_Source__c":"ORPHA:1226","Spanish_Description__c":"Es un síndrome muy infrecuente de hipotiroidismo congénito caracterizado por disgenesia tiroidea (en la mayoría de los casos atireosis, paladar hendido y cabello puntiagudo, con o sin atresia de coanas y epiglotis bífida. Se ha descrito dismorfia facial y porencefalia en casos aislados.","Spanish_Disease_Name__c":"síndrome de bamforth","Spanish_GARD_Synonym__c":"síndrome de bamforth-lazarus; síndrome de hipotiroidismo-paladar hendido","Category_Linearization__c":"ORPHA:97978","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":"A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.","Curated_Disease_Description_Source__c":"MONDO:0009437","GARD_Synonym__c":"athyroidal hypothyroidism with spiky hair and cleft palate; athyroidal hypothyroidism with spiky hair and cleft palate syndrome; athyroidal hypothyroidism-spiky hair-cleft palate syndrome; bamforth lazarus syndrome; bamforth syndrome; hypothyroidism and cleft palate syndrome; hypothyroidism-cleft palate syndrome; hypothyroidism, athyroidal, with spiky hair and cleft palate","Name":"Bamforth-Lazarus 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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"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":"Antenatal","Provided_By__c":"ORPHA:1226"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1226"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1855794"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000414","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537901","Source__c":"MONDO:0009437","Xref__c":"C537901"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343420","Source__c":"C1855794","Xref__c":"MEDGEN:343420"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722375007","Source__c":"C1855794; MONDO:0009437","Xref__c":"722375007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050655","Source__c":"MONDO:0009437","Xref__c":"DOID:0050655"},{"URL__c":"https://www.orpha.net/en/disease/detail/1226","Source__c":"C1855794; MONDO:0009437; ORPHA:1226","Xref__c":"ORPHA:1226"},{"URL__c":"https://www.omim.org/entry/241850","Source__c":"C1855794; MONDO:0009437; ORPHA:1226","Xref__c":"OMIM:241850"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855794","Source__c":"C1855794","Xref__c":"C1855794"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009437","Source__c":"GARD:0000414","Xref__c":"MONDO:0009437"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXE1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1226","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:1226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal amount of hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011362","HPO_Synonym__c":"Abnormal hair quantity; Abnormality of hair density","HPO_Name__c":"Abnormal hair quantity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000851","HPO_Synonym__c":"Hypothyroidism, congenital; Underactive thyroid gland from birth","HPO_Name__c":"Congenital hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The congenital absence of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008191","HPO_Name__c":"Thyroid agenesis","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1226","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:1226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["athyroidal hypothyroidism with spiky hair and cleft palate"," athyroidal hypothyroidism with spiky hair and cleft palate syndrome"," athyroidal hypothyroidism-spiky hair-cleft palate syndrome"," bamforth lazarus syndrome"," bamforth syndrome"," hypothyroidism and cleft palate syndrome"," hypothyroidism-cleft palate syndrome"," hypothyroidism, athyroidal, with spiky hair and cleft palate"]}