{"Name":"Pili torti-onychodysplasia syndrome","DiseaseID__c":"GARD:0004364","id":4364,"encodedName":"pili-torti-onychodysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pili torti-onychodysplasia syndrome","Xref_IDs__c":"C4509919; MEDGEN:1375227; MONDO:0017321; ORPHA:2890","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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:0017321","Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.","GARD_Name__c":"Pili torti-onychodysplasia syndrome","GARD_Synonym__c":"pili torti onychodysplasia syndrome","Curated_Disease_Description_Source__c":"MONDO:0017321","Curated_Disease_Description__c":"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.","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:2890","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017321","ORPHANET_ID__c":"ORPHA:2890","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de pili torti-onicodisplasia","Spanish_Description_Source__c":"ORPHA:2890","Spanish_Description__c":"Es una displasia ectodérmica poco frecuente caracterizada por onicodistrofia congénita (particularmente de la parte distal ungueal) y grave hipertricosis junto con alopecia que afecta a las cejas, las pestañas y al vello corporal. El cabello, la barba, el vello púbico y el axilar presentan fragilidad mostrando un patrón de torsión por microscopía electrónica. No ha habido más casos descritos en la literatura desde 1991.","Spanish_Disease_Name__c":"síndrome de pili torti-onicodisplasia","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":"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.","Curated_Disease_Description_Source__c":"MONDO:0017321","GARD_Synonym__c":"pili torti onychodysplasia syndrome","Name":"Pili torti-onychodysplasia 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2890"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2890"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2890","Source__c":"C4509919; MONDO:0017321; ORPHA:2890","Xref__c":"ORPHA:2890"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723451000","Source__c":"C4509919","Xref__c":"723451000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017321","Source__c":"GARD:0004364","Xref__c":"MONDO:0017321"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1375227","Source__c":"C4509919","Xref__c":"MEDGEN:1375227"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4509919","Source__c":"C4509919","Xref__c":"C4509919"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010562","HPO_Name__c":"Keloids","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","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:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030953","HPO_Synonym__c":"Conjunctival injection; Conjunctival vascular congestion","HPO_Name__c":"Conjunctival hyperemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","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:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000964","HPO_Synonym__c":"Eczema","HPO_Name__c":"Eczematoid dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000968","HPO_Name__c":"Ectodermal dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008394","HPO_Name__c":"Congenital onychodystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A gap in the lip or lips.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410030","HPO_Synonym__c":"Cleft lip; Cleft of the lip","HPO_Name__c":"Cleft lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental dysplasia of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002552","HPO_Name__c":"Trichodysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","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:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of all hair on the entire body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002289","HPO_Synonym__c":"Alopecia, complete","HPO_Name__c":"Alopecia universalis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Skin characterized by the lack of natural or normal moisture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000958","HPO_Synonym__c":"Dry skin; Xerosis","HPO_Name__c":"Dry skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","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:2890","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fragile, easily breakable hair, i.e., with reduced tensile strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002299","HPO_Synonym__c":"Brittle hair","HPO_Name__c":"Brittle hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2890","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012725","HPO_Synonym__c":"Cutaneous syndactyly of digits; Syndactyly, cutaneous","HPO_Name__c":"Cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["pili torti onychodysplasia syndrome"]}