{"Name":"Oculoosteocutaneous syndrome","DiseaseID__c":"GARD:0000992","id":992,"encodedName":"oculoosteocutaneous-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Oculoosteocutaneous syndrome","Xref_IDs__c":"722061006; C1859385; C565893; MEDGEN:347867; MONDO:0008884; OMIM:211370; ORPHA:2713","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008884","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.","GARD_Name__c":"Oculoosteocutaneous syndrome","GARD_Synonym__c":"anodontia-hypotrichosis syndrome; brachymetapody anodontia hypotrichosis albinoidism; brachymetapody-anodontia-hypotrichosis-albinoidism","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Oculoosteocutaneous syndrome is a rare condition that affects many parts of the body. People with this syndrome are usually shorter than average and have short fingers and toes. They may also be missing some or all of their teeth, have thin hair, and have skin that is discolored. Women with this syndrome may have underdeveloped genitals. The eyes of people with this syndrome are also affected; Oculoosteocutaneous syndrome can cause extra rows of eyelashes, crossed eyes, and trouble seeing things far away. They may also have a small head, a broad nose, and a small upper jaw and a large lower jaw.","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:2713","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008884","ORPHANET_ID__c":"ORPHA:2713","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome óculo-osteo-cutáneo","Spanish_Description_Source__c":"ORPHA:2713","Spanish_Description__c":"Es un síndrome dismórfico/ con anomalías congénitas múltiples poco frecuente caracterizado por talla baja y un acortamiento especialmente pronunciado de los metacarpianos y metatarsianos tercero a quinto, anodoncia congénita, cabello escaso, despigmentación de la piel, pezones hipoplásicos y genitales externos infradesarrollados en las mujeres, así como múltiples anomalías oculares (como distiquiasis, estrabismo, nistagmo, opacidades lenticulares y miopía grave, entre otras). Los rasgos craneofaciales dismórficos incluyen braquicefalia, fisuras palpebrales descendentes, raíz nasal ancha, orejas de implantación baja, maxilar pequeño y mandíbula prominente. No ha habido más descripciones en la literatura desde 1968.","Spanish_Disease_Name__c":"síndrome óculo-osteo-cutáneo","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":"Oculoosteocutaneous syndrome is a rare condition that affects many parts of the body. People with this syndrome are usually shorter than average and have short fingers and toes. They may also be missing some or all of their teeth, have thin hair, and have skin that is discolored. Women with this syndrome may have underdeveloped genitals. The eyes of people with this syndrome are also affected; Oculoosteocutaneous syndrome can cause extra rows of eyelashes, crossed eyes, and trouble seeing things far away. They may also have a small head, a broad nose, and a small upper jaw and a large lower jaw.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"anodontia-hypotrichosis syndrome; brachymetapody anodontia hypotrichosis albinoidism; brachymetapody-anodontia-hypotrichosis-albinoidism","Name":"Oculoosteocutaneous 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":"Ophthalmology","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":"Ectodermal dysplasia","Tag_Category__c":"Account","curated_tag_name":"Ectodermal dysplasias"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2713"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2713"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347867","Source__c":"C1859385","Xref__c":"MEDGEN:347867"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859385","Source__c":"C1859385","Xref__c":"C1859385"},{"URL__c":"https://www.omim.org/entry/211370","Source__c":"C1859385; MONDO:0008884; ORPHA:2713","Xref__c":"OMIM:211370"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722061006","Source__c":"C1859385; MONDO:0008884","Xref__c":"722061006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565893","Source__c":"MONDO:0008884","Xref__c":"C565893"},{"URL__c":"https://www.orpha.net/en/disease/detail/2713","Source__c":"C1859385; MONDO:0008884; ORPHA:2713","Xref__c":"ORPHA:2713"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008884","Source__c":"GARD:0000992","Xref__c":"MONDO:0008884"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Neuro-Ophthalmology","Pediatrics"],"Account":["Dermatology","Ectodermal dysplasia"]},"synonyms":["anodontia-hypotrichosis syndrome"," brachymetapody anodontia hypotrichosis albinoidism"," brachymetapody-anodontia-hypotrichosis-albinoidism"]}