{"Name":"Keratosis follicularis-dwarfism-cerebral atrophy syndrome","DiseaseID__c":"GARD:0003099","id":3099,"encodedName":"keratosis-follicularis-dwarfism-cerebral-atrophy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Keratosis follicularis-dwarfism-cerebral atrophy syndrome","Xref_IDs__c":"C1839910; C536158; MEDGEN:374340; MONDO:0010638; OMIM:308830; ORPHA:2339","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010638","Disease_Description__c":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.","GARD_Name__c":"Keratosis follicularis-dwarfism-cerebral atrophy syndrome","GARD_Synonym__c":"dwarfism, cerebral atrophy and generalized keratosis follicularis","Curated_Disease_Description_Source__c":"MONDO:0010638","Curated_Disease_Description__c":"A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.","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:2339","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010638","ORPHANET_ID__c":"ORPHA:2339","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de queratosis folicular-talla baja significativa-atrofia cerebral","Spanish_Description_Source__c":"ORPHA:2339","Spanish_Description__c":"Es un defecto del desarrollo embrionario, de origen genético y poco frecuente, caracterizado por queratosis folicular generalizada, talla baja extrema proporcionada y atrofia cerebral. Otros hallazgos adicionales observados son alopecia (del cuero cabelludo, las cejas y las pestañas) y microcefalia. El síndrome también puede asociar discapacidad intelectual, hernia inguinal y epilepsia. No ha habido más casos descritos en la literatura desde 1974.","Spanish_Disease_Name__c":"síndrome de queratosis folicular-talla baja significativa-atrofia cerebral","Spanish_GARD_Synonym__c":"síndrome de queratosis folicular-enanismo-atrofia cerebral","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, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.","Curated_Disease_Description_Source__c":"MONDO:0010638","GARD_Synonym__c":"dwarfism, cerebral atrophy and generalized keratosis follicularis","Name":"Keratosis follicularis-dwarfism-cerebral atrophy 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":"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":"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":"Neonatal","Provided_By__c":"ORPHA:2339"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2339"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374340","Source__c":"C1839910","Xref__c":"MEDGEN:374340"},{"URL__c":"https://www.omim.org/entry/308830","Source__c":"C1839910; MONDO:0010638; ORPHA:2339","Xref__c":"OMIM:308830"},{"URL__c":"https://www.orpha.net/en/disease/detail/2339","Source__c":"C1839910; MONDO:0010638","Xref__c":"ORPHA:2339"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536158","Source__c":"MONDO:0010638","Xref__c":"C536158"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839910","Source__c":"C1839910","Xref__c":"C1839910"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010638","Source__c":"GARD:0003099","Xref__c":"MONDO:0010638"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2339","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2339","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2339","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002223","HPO_Synonym__c":"Absent eyebrow; Absent eyebrows; Failure of development of eyebrows","HPO_Name__c":"Absent eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2339","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000561","HPO_Synonym__c":"Absent eyelashes; Atrichia of eyelashes; Failure of development of eyelashes","HPO_Name__c":"Absent eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2339","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007439","HPO_Name__c":"Generalized keratosis follicularis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2339","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Dermatology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["dwarfism, cerebral atrophy and generalized keratosis follicularis"]}