{"Name":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome","DiseaseID__c":"GARD:0017528","id":17528,"encodedName":"facial-dysmorphism-immunodeficiency-livedo-short-stature-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome","Xref_IDs__c":"C3554576; MEDGEN:767490; MONDO:0014058; OMIM:615139; ORPHA:352712","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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:0014058","Disease_Description__c":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.","GARD_Name__c":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome","GARD_Synonym__c":"facial dysmorphism, immunodeficiency, livedo, and short stature; facial dysmorphism, immunodeficiency, livedo, short stature syndrome; fils (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome; fils syndrome","Curated_Disease_Description_Source__c":"MONDO:0014058","Curated_Disease_Description__c":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.","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:352712","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014058","ORPHANET_ID__c":"ORPHA:352712","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dismorfia facial-inmunodeficiencia-livedo-talla baja","Spanish_Description_Source__c":"ORPHA:352712","Spanish_Description__c":"Es una enfermedad genética poco frecuente caracterizada por dismorfia facial con hipoplasia malar y frente alta, inmunodeficiencia que resulta en infecciones recurrentes, crecimiento deficiente (con producción y respuesta de la hormona de crecimiento normales) que resulta en talla baja y livedo que afecta a la cara y extremidades. Los análisis inmunológicos muestran un recuento bajo de células B de memoria y de células T ''naive'', disminución de la proliferación de células T y títulos reducidos de IgM, IgG2 e IgG4. Los afectados no presentan mayor susceptibilidad al cáncer.","Spanish_Disease_Name__c":"síndrome de dismorfia facial-inmunodeficiencia-livedo-talla baja","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":"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.","Curated_Disease_Description_Source__c":"MONDO:0014058","GARD_Synonym__c":"facial dysmorphism, immunodeficiency, livedo, and short stature; facial dysmorphism, immunodeficiency, livedo, short stature syndrome; fils (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome; fils syndrome","Name":"Facial dysmorphism-immunodeficiency-livedo-short stature 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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:352712"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352712"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554576","Source__c":"C3554576","Xref__c":"C3554576"},{"URL__c":"https://www.omim.org/entry/615139","Source__c":"C3554576; MONDO:0014058; ORPHA:352712","Xref__c":"OMIM:615139"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767490","Source__c":"C3554576","Xref__c":"MEDGEN:767490"},{"URL__c":"https://www.orpha.net/en/disease/detail/352712","Source__c":"C3554576; MONDO:0014058","Xref__c":"ORPHA:352712"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014058","Source__c":"GARD:0017528","Xref__c":"MONDO:0014058"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771515001","Source__c":"C3554576","Xref__c":"771515001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POLE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007421","HPO_Name__c":"Telangiectases of the cheeks","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031367","HPO_Synonym__c":"Striated metaphysis","HPO_Name__c":"Metaphyseal striations","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","Feature__r":{"HPO_Description__c":"A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004482","HPO_Synonym__c":"Disproportionately large head; Macrocephaly, relative; Relatively large head","HPO_Name__c":"Relative macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:615139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033832","HPO_Name__c":"Livedo","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","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":"OMIM:615139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615139","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002783","HPO_Synonym__c":"Chronic lung infections; Lower respiratory tract infections; Recurrent chest infections","HPO_Name__c":"Recurrent lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Immunology","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["facial dysmorphism, immunodeficiency, livedo, and short stature"," facial dysmorphism, immunodeficiency, livedo, short stature syndrome"," fils (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome"," fils syndrome"]}