{"Name":"Robin sequence-oligodactyly syndrome","DiseaseID__c":"GARD:0004729","id":4729,"encodedName":"robin-sequence-oligodactyly-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Robin sequence-oligodactyly syndrome","Xref_IDs__c":"C1868309; C535688; MEDGEN:358176; MONDO:0008247; OMIM:172880; ORPHA:3104","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008247","Disease_Description__c":"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.","GARD_Name__c":"Robin sequence-oligodactyly syndrome","GARD_Synonym__c":"pierre robin sequence-oligodactyly syndrome; pierre robin syndrome and oligodactyly","Curated_Disease_Description_Source__c":"MONDO:0008247","Curated_Disease_Description__c":"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:3104","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008247","ORPHANET_ID__c":"ORPHA:3104","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de secuencia de robin-oligodactilia","Spanish_Description_Source__c":"ORPHA:3104","Spanish_Description__c":"Es un síndrome por defectos del desarrollo embrionario, genético y poco frecuente, caracterizado por secuencia de Robin (es decir, micrognatia, retroglosia y hendidura del paladar posterior en forma de U) junto con oligodactilia pre- y postaxial. Las características faciales pueden incluir cara estrecha y arco dental inferior estrecho. También se ha descrito clinodactilia, falange ausente, fusiones metacarpianas y carpos hipoplásicos. No se han descrito más casos en la literatura desde 1986.","Spanish_Disease_Name__c":"síndrome de secuencia de robin-oligodactilia","Spanish_GARD_Synonym__c":"secuencia de pierre robin-oligodactilia","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":"Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.","Curated_Disease_Description_Source__c":"MONDO:0008247","GARD_Synonym__c":"pierre robin sequence-oligodactyly syndrome; pierre robin syndrome and oligodactyly","Name":"Robin sequence-oligodactyly 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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3104"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=358176","Source__c":"C1868309","Xref__c":"MEDGEN:358176"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868309","Source__c":"C1868309","Xref__c":"C1868309"},{"URL__c":"https://www.omim.org/entry/172880","Source__c":"C1868309; MONDO:0008247; ORPHA:3104","Xref__c":"OMIM:172880"},{"URL__c":"https://www.orpha.net/en/disease/detail/3104","Source__c":"C1868309; MONDO:0008247","Xref__c":"ORPHA:3104"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535688","Source__c":"MONDO:0008247","Xref__c":"C535688"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008247","Source__c":"GARD:0004729","Xref__c":"MONDO:0008247"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormal shape or structure of the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005916","HPO_Synonym__c":"Abnormal shape of long bones of hand; Abnormal shape of metacarpal bones","HPO_Name__c":"Abnormal metacarpal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000275","HPO_Synonym__c":"Decreased breadth of face; Decreased horizontal dimension of face; Decreased transverse dimension of face; Decreased width of face; Horizontal deficiency of face; Horizontal hypoplasia of face; Horizontal insufficiency of face; Narrow face; Narrow facies; Thin facies; Transverse deficiency of face; Transverse hypoplasia of face; Transverse insufficiency of face","HPO_Name__c":"Narrow face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009380","HPO_Synonym__c":"Absent fingers; Aplasia of the fingers; Hand has less than 5 fingers; Hand oligodactyly","HPO_Name__c":"Finger aplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","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:3104","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040071","HPO_Name__c":"Abnormal morphology of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000162","HPO_Synonym__c":"Lingual retraction; Retraction of the tongue","HPO_Name__c":"Glossoptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3104","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the teeth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000164","HPO_Synonym__c":"Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies","HPO_Name__c":"Abnormality of the dentition","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["pierre robin sequence-oligodactyly syndrome"," pierre robin syndrome and oligodactyly"]}