{"Name":"Hypotrichosis-intellectual disability, Lopes type","DiseaseID__c":"GARD:0018763","id":18763,"encodedName":"hypotrichosis-intellectual-disability-lopes-type","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis-intellectual disability, Lopes type","Xref_IDs__c":"C4509839; MEDGEN:1371854; MONDO:0016414; ORPHA:2266","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:0016414","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.","GARD_Name__c":"Hypotrichosis-intellectual disability, Lopes type","GARD_Synonym__c":"hypotrichosis and intellectual disability syndrome lopes type; lopes marques de faria syndrome; lopes-marques de faria syndrome","Curated_Disease_Description_Source__c":"ORPHA:2266","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2266","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016414","ORPHANET_ID__c":"ORPHA:2266","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipotricosis-discapacidad intelectual tipo lopes","Spanish_Description_Source__c":"ORPHA:2266","Spanish_Description__c":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por hipotricosis del cuero cabelludo y las cejas, sindactilia en los dedos de la mano, discapacidad intelectual y erupción temprana de los dientes. Otros hallazgos adicionales observados son dismorfia facial (cara redondeada con frente, mejillas y orejas prominentes y fisuras palpebrales inclinadas hacia arriba), hipoplasia de falanges medias y distales, y cifosis. No ha habido más casos descritos en la literatura desde 1996.","Spanish_Disease_Name__c":"hipotricosis-discapacidad intelectual tipo lopes","Spanish_GARD_Synonym__c":"síndrome de lopes-marques de faria","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":"A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features.","Curated_Disease_Description_Source__c":"ORPHA:2266","GARD_Synonym__c":"hypotrichosis and intellectual disability syndrome lopes type; lopes marques de faria syndrome; lopes-marques de faria syndrome","Name":"Hypotrichosis-intellectual disability, Lopes type","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":"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":"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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"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":"Infancy","Provided_By__c":"ORPHA:2266"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2266"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1371854","Source__c":"C4509839","Xref__c":"MEDGEN:1371854"},{"URL__c":"https://www.orpha.net/en/disease/detail/2266","Source__c":"C4509839; MONDO:0016414; ORPHA:2266","Xref__c":"ORPHA:2266"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4509839","Source__c":"C4509839","Xref__c":"C4509839"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723365002","Source__c":"C4509839","Xref__c":"723365002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016414","Source__c":"GARD:0018763","Xref__c":"MONDO:0016414"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2266","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2266","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006288","HPO_Synonym__c":"Advanced dental eruption; Advanced tooth eruption; Early dental eruption; Early eruption of teeth; Eruption, advanced; Premature dental eruption; Premature eruption of teeth; Premature tooth eruption","HPO_Name__c":"Advanced eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2266","HPO_Frequency__c":"Frequent (30-79%)","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:2266","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006088","HPO_Name__c":"1-5 finger complete cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["hypotrichosis and intellectual disability syndrome lopes type"," lopes marques de faria syndrome"," lopes-marques de faria syndrome"]}