{"Name":"Patterson-Stevenson-Fontaine syndrome","DiseaseID__c":"GARD:0004260","id":4260,"encodedName":"patterson-stevenson-fontaine-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Patterson-Stevenson-Fontaine syndrome","Xref_IDs__c":"724069009; C5574964; MEDGEN:1808766; MONDO:0008465; OMIM:183700; ORPHA:2439","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008465","Disease_Description__c":"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.","GARD_Name__c":"Patterson-Stevenson-Fontaine syndrome","GARD_Synonym__c":"patterson stevenson fontaine syndrome; patterson-stevenson syndrome; split foot deformity with mandibulofacial dysostosis syndrome; split foot deformity-mandibulofacial dysostosis syndrome; split-foot deformity with ectrodactyly and mandibulofacial dysostosis; split-foot deformity with mandibulofacial dysostosis","Curated_Disease_Description_Source__c":"GARD:0004260","Curated_Disease_Description__c":"Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis) and limb abnormalities. Physical features of this condition may include a recessed jaw (retrognathism), cleft palate, and anomalies of the external ears. Limb abnormalities may include the absence of toes, clefts in the feet, and fusion of toes together (syndactyly). These limb abnormalities together are known as split-foot deformity or ectrodactyly. Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner. Diagnosis of the condition may be based on seeing symptoms in an individual that are consistent with the syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2439","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008465","ORPHANET_ID__c":"ORPHA:2439","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de patterson-stevenson-fontaine","Spanish_Description_Source__c":"ORPHA:2439","Spanish_Description__c":"El síndrome de Patterson-Stevenson-Fontaine es una variante muy poco frecuente de disostosis acrofacial caracterizada por disostosis mandibulofacial y anomalías en las extremidades.","Spanish_Disease_Name__c":"síndrome de patterson-stevenson-fontaine","Spanish_GARD_Synonym__c":"deformidad con pies hendidos-disostosis mandibulofacial; síndrome de patterson-stevenson","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":"Patterson-Stevenson-Fontaine syndrome is a very rare syndrome characterized by abnormal development of the bones and tissues of the face (mandibulofacial dysostosis) and limb abnormalities. Physical features of this condition may include a recessed jaw (retrognathism), cleft palate, and anomalies of the external ears. Limb abnormalities may include the absence of toes, clefts in the feet, and fusion of toes together (syndactyly). These limb abnormalities together are known as split-foot deformity or ectrodactyly. Patterson-Stevenson-Fontaine syndrome is inherited in an autosomal dominant manner. Diagnosis of the condition may be based on seeing symptoms in an individual that are consistent with the syndrome.","Curated_Disease_Description_Source__c":"GARD:0004260","GARD_Synonym__c":"patterson stevenson fontaine syndrome; patterson-stevenson syndrome; split foot deformity with mandibulofacial dysostosis syndrome; split foot deformity-mandibulofacial dysostosis syndrome; split-foot deformity with ectrodactyly and mandibulofacial dysostosis; split-foot deformity with mandibulofacial dysostosis","Name":"Patterson-Stevenson-Fontaine syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Reach: The Association for Children with Hand or Arm Deficiency","Website__c":"https://www.reach.org.uk/"},{"Account_Name__c":"Birth Defect Research for Children","Website__c":"https://www.birthdefects.org/"},{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"}],"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2439"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2439"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1808766","Source__c":"C5574964","Xref__c":"MEDGEN:1808766"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724069009","Source__c":"C5574964; MONDO:0008465","Xref__c":"724069009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5574964","Source__c":"C5574964","Xref__c":"C5574964"},{"URL__c":"https://www.orpha.net/en/disease/detail/2439","Source__c":"C5574964; MONDO:0008465; ORPHA:2439","Xref__c":"ORPHA:2439"},{"URL__c":"https://www.omim.org/entry/183700","Source__c":"C5574964; MONDO:0008465; ORPHA:2439","Xref__c":"OMIM:183700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008465","Source__c":"GARD:0004260","Xref__c":"MONDO:0008465"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2439","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:2439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005321","HPO_Synonym__c":"Treacher Collins syndrome","HPO_Name__c":"Mandibulofacial dysostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Frequent (30-79%)","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:2439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001839","HPO_Synonym__c":"Foot ectrodactyly; Lobster-claw foot deformity; Split foot; Split-foot","HPO_Name__c":"Split foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001770","HPO_Synonym__c":"Foot syndactyly; Fused toes; Syndactyly of feet; Syndactyly of toes; Webbed toes","HPO_Name__c":"Toe syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small indentation anterior to the insertion of the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004467","HPO_Synonym__c":"Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus","HPO_Name__c":"Preauricular pit","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Changes in alignment of teeth in the dental arch","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000678","HPO_Synonym__c":"Crowded teeth; Dental crowding; Dental overcrowding; Overcrowding of teeth","HPO_Name__c":"Dental crowding","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2439","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["patterson stevenson fontaine syndrome"," patterson-stevenson syndrome"," split foot deformity with mandibulofacial dysostosis syndrome"," split foot deformity-mandibulofacial dysostosis syndrome"," split-foot deformity with ectrodactyly and mandibulofacial dysostosis"," split-foot deformity with mandibulofacial dysostosis"]}