{"Name":"Oculotrichoanal syndrome","DiseaseID__c":"GARD:0003395","id":3395,"encodedName":"oculotrichoanal-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Oculotrichoanal syndrome","Xref_IDs__c":"703539006; C1855425; C536022; MEDGEN:383680; MONDO:0009560; OMIM:248450; ORPHA:2717","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:2717","Disease_Description__c":"Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.","GARD_Name__c":"Oculotrichoanal syndrome","GARD_Synonym__c":"manitoba oculotrichoanal syndrome; marles syndrome; marles-greenberg-persaud syndrome; marles-greenburg-persaud syndrome; mota; mota - manitoba oculotrichoanal syndrome; mota syndrome","Curated_Disease_Description_Source__c":"ORPHA:2717","Curated_Disease_Description__c":"Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of the eye (corneopalpebral synechiae), or eyes that are completely covered by skin and usually malformed (cryptophthalmos). These abnormalities may affect one or both eyes. Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or partially missing. Most people with this disorder also have a wide nose with a notched tip; in some cases this notch extends up from the tip so that the nose appears to be divided into two halves (bifid nose). About 20 percent of people with Manitoba oculotrichoanal syndrome have defects in the abdominal wall, such as a soft out-pouching around the belly-button (an umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel.  Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. Umbilical wall defects or anal malformations may require surgical correction. Some affected individuals also have malformations of the kidneys. The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. With appropriate treatment, affected individuals generally have normal growth and development, intelligence, and life expectancy.","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:2717","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009560","ORPHANET_ID__c":"ORPHA:2717","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome óculo-trico-anal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome óculo-trico-anal","Spanish_GARD_Synonym__c":"síndrome de marles; síndrome de marles-greenberg-persaud; síndrome mota; síndrome óculo-trico-anal de manitoba","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":"Manitoba oculotrichoanal syndrome is a condition involving several characteristic physical features, particularly affecting the eyes (oculo-), hair (tricho-), and anus (-anal). People with Manitoba oculotrichoanal syndrome have widely spaced eyes (hypertelorism). They may also have other eye abnormalities including small eyes (microphthalmia), a notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface of the eye (corneopalpebral synechiae), or eyes that are completely covered by skin and usually malformed (cryptophthalmos). These abnormalities may affect one or both eyes. Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or partially missing. Most people with this disorder also have a wide nose with a notched tip; in some cases this notch extends up from the tip so that the nose appears to be divided into two halves (bifid nose). About 20 percent of people with Manitoba oculotrichoanal syndrome have defects in the abdominal wall, such as a soft out-pouching around the belly-button (an umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel.  Another characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus (anal stenosis) or an anal opening farther forward than usual. Umbilical wall defects or anal malformations may require surgical correction. Some affected individuals also have malformations of the kidneys. The severity of the features of Manitoba oculotrichoanal syndrome may vary even within the same family. With appropriate treatment, affected individuals generally have normal growth and development, intelligence, and life expectancy.","Curated_Disease_Description_Source__c":"ORPHA:2717","GARD_Synonym__c":"manitoba oculotrichoanal syndrome; marles syndrome; marles-greenberg-persaud syndrome; marles-greenburg-persaud syndrome; mota; mota - manitoba oculotrichoanal syndrome; mota syndrome","Name":"Oculotrichoanal 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2717"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2717"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1855425"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003395","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1728","Source__c":"Gene Review","Xref__c":"NBK1728"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703539006","Source__c":"C1855425; MONDO:0009560","Xref__c":"703539006"},{"URL__c":"https://www.orpha.net/en/disease/detail/2717","Source__c":"C1855425; MONDO:0009560; ORPHA:2717","Xref__c":"ORPHA:2717"},{"URL__c":"https://www.omim.org/entry/248450","Source__c":"C1855425; MONDO:0009560; ORPHA:2717","Xref__c":"OMIM:248450"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855425","Source__c":"C1855425","Xref__c":"C1855425"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536022","Source__c":"MONDO:0009560","Xref__c":"C536022"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383680","Source__c":"C1855425","Xref__c":"MEDGEN:383680"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009560","Source__c":"GARD:0003395","Xref__c":"MONDO:0009560"},{"URL__c":"https://medlineplus.gov/genetics/condition/manitoba-oculotrichoanal-syndrome","Source__c":"GARD:0003395","Xref__c":"https://medlineplus.gov/genetics/condition/manitoba-oculotrichoanal-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FREM1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/frem1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000456","HPO_Synonym__c":"Bifid tip of nose; Cleft nasal tip","HPO_Name__c":"Bifid nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal narrowing of the anal opening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002025","HPO_Synonym__c":"Narrowing of anal opening","HPO_Name__c":"Anal stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A short discontinuity of the margin of the upper eyelid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000636","HPO_Synonym__c":"Cleft upper eyelid; Coloboma of the upper eyelid; Full thickness defect of the upper eyelid; Notched upper eyelid; Upper eyelid colobomas","HPO_Name__c":"Upper eyelid coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the globe or eyeball.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000528","HPO_Synonym__c":"Absence of eyeballs; Absence of globes of eyes; Anophthalmia, clinical; Clinical anophthalmia, unilateral/bilateral; Failure of development of eyeball; Missing eyeball; Missing globe of eye; No eyeball; No globe of eye; Ocular absence","HPO_Name__c":"Anophthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the distribution of hair growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010720","HPO_Synonym__c":"Abnormal distribution of hair; Abnormal hair pattern","HPO_Name__c":"Abnormal hair pattern","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anterior malposition of the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001545","HPO_Synonym__c":"Anteriorly displaced anus; Anus anteposition","HPO_Name__c":"Anteriorly placed anus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blockage of the lacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000579","HPO_Synonym__c":"Blocked tear duct; Lacrimal duct obstruction","HPO_Name__c":"Nasolacrimal duct obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2717","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001126","HPO_Name__c":"Cryptophthalmos","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["manitoba oculotrichoanal syndrome"," marles syndrome"," marles-greenberg-persaud syndrome"," marles-greenburg-persaud syndrome"," mota"," mota - manitoba oculotrichoanal syndrome"," mota syndrome"]}