{"Name":"Pierre Robin sequence with pectus excavatum and rib and scapular anomalies","DiseaseID__c":"GARD:0010090","id":10090,"encodedName":"pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies","IsDeleted":false,"Disease_Name_Full__c":"Pierre Robin sequence with pectus excavatum and rib and scapular anomalies","Xref_IDs__c":"C1865783; C535775; MEDGEN:355549; MONDO:0011203; OMIM:602196","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:602196","Disease_Description__c":null,"GARD_Name__c":"Pierre Robin sequence with pectus excavatum and rib and scapular anomalies","GARD_Synonym__c":"campomelic dysplasia, mild; skeletal dysplasia related to campomelic dysplasia","Curated_Disease_Description_Source__c":"OMIM:602196","Curated_Disease_Description__c":"Pierre robin sequence with pectus excavatum and rib and scapular anomalies is a condition with autosomal dominant inheritance. The features of this condition may include Pierre Robin-type cleft palate, pectus excavatum, rib anomalies, and hypoplasia of the distal segments of the scapulae. Some people with this condition may also have hypotonia, low-set hairline, low-set hairline, webbed neck, and joint hyperextensibility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:602196","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011203","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Pierre robin sequence with pectus excavatum and rib and scapular anomalies is a condition with autosomal dominant inheritance. The features of this condition may include Pierre Robin-type cleft palate, pectus excavatum, rib anomalies, and hypoplasia of the distal segments of the scapulae. Some people with this condition may also have hypotonia, low-set hairline, low-set hairline, webbed neck, and joint hyperextensibility.","Curated_Disease_Description_Source__c":"OMIM:602196","GARD_Synonym__c":"campomelic dysplasia, mild; skeletal dysplasia related to campomelic dysplasia","Name":"Pierre Robin sequence with pectus excavatum and rib and scapular anomalies","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355549","Source__c":"C1865783","Xref__c":"MEDGEN:355549"},{"URL__c":"https://www.omim.org/entry/602196","Source__c":"C1865783; MONDO:0011203","Xref__c":"OMIM:602196"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535775","Source__c":"MONDO:0011203","Xref__c":"C535775"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1865783","Source__c":"C1865783","Xref__c":"C1865783"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011203","Source__c":"GARD:0010090","Xref__c":"MONDO:0011203"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:602196","Feature__r":{"HPO_Description__c":"Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000465","HPO_Synonym__c":"Neck webbing; Pterygium colli; Webbed neck","HPO_Name__c":"Webbed neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","Feature__r":{"HPO_Description__c":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001965","HPO_Synonym__c":"Abnormality of the scalp; Anomaly of scalp","HPO_Name__c":"Abnormal scalp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","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":"OMIM:602196","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","Feature__r":{"HPO_Description__c":"Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000201","HPO_Synonym__c":"Pierre Robin sequence; Pierre-robin anomaly; Pierre-robin deformity; Pierre-robin malformation; Robin sequence","HPO_Name__c":"Pierre-Robin sequence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006631","HPO_Synonym__c":"Small distal segments of the shoulder blade; Underdeveloped outermost segments of shoulder blade","HPO_Name__c":"Hypoplastic distal segments of scapulae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","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":"OMIM:602196","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:602196","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["campomelic dysplasia, mild"," skeletal dysplasia related to campomelic dysplasia"]}