{"Name":"Skeletal dysplasia-intellectual disability syndrome","DiseaseID__c":"GARD:0003520","id":3520,"encodedName":"skeletal-dysplasia-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Skeletal dysplasia-intellectual disability syndrome","Xref_IDs__c":"722478008; C1839729; C564101; MEDGEN:326949; MONDO:0010668; OMIM:309620; ORPHA:1436","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010668","Disease_Description__c":"A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.","GARD_Name__c":"Skeletal dysplasia-intellectual disability syndrome","GARD_Synonym__c":"christian syndrome; chrs; impaired intellectual development, skeletal dysplasia, and abducens palsy; intellectual developmental disorder, x-linked, syndromic, christian type; mental retardation-skeletal dysplasia; skeletal dysplasia with intellectual disability syndrome; x-linked skeletal dysplasia-intellectual disability syndrome","Curated_Disease_Description_Source__c":"MONDO:0010668","Curated_Disease_Description__c":"A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1436","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010668","ORPHANET_ID__c":"ORPHA:1436","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia esquelética-discapacidad intelectual ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:1436","Spanish_Description__c":"Es una displasia espondilodisplásica poco frecuente caracterizada por anomalías esqueléticas, incluyendo talla baja, prominencia de la sutura metópica, fusión de las vértebras cervicales, hemivértebras torácicas, escoliosis, hipoplasia sacra y acortamiento de las falanges medias. Los pacientes presentan una discapacidad intelectual moderada así como parálisis del abducens. También se ha descrito intolerancia a la glucosa y ano imperforado. No ha habido más descripciones en la literatura desde 1977.","Spanish_Disease_Name__c":"síndrome de displasia esquelética-discapacidad intelectual ligado al cromosoma x","Spanish_GARD_Synonym__c":"síndrome de christian","Category_Linearization__c":"ORPHA:93419","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":"A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977.","Curated_Disease_Description_Source__c":"MONDO:0010668","GARD_Synonym__c":"christian syndrome; chrs; impaired intellectual development, skeletal dysplasia, and abducens palsy; intellectual developmental disorder, x-linked, syndromic, christian type; mental retardation-skeletal dysplasia; skeletal dysplasia with intellectual disability syndrome; x-linked skeletal dysplasia-intellectual disability syndrome","Name":"Skeletal dysplasia-intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1436"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=326949","Source__c":"C1839729","Xref__c":"MEDGEN:326949"},{"URL__c":"https://www.orpha.net/en/disease/detail/1436","Source__c":"C1839729; MONDO:0010668; ORPHA:1436","Xref__c":"ORPHA:1436"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722478008","Source__c":"C1839729; MONDO:0010668","Xref__c":"722478008"},{"URL__c":"https://www.omim.org/entry/309620","Source__c":"C1839729; MONDO:0010668; ORPHA:1436","Xref__c":"OMIM:309620"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564101","Source__c":"MONDO:0010668","Xref__c":"C564101"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839729","Source__c":"C1839729","Xref__c":"C1839729"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010668","Source__c":"GARD:0003520","Xref__c":"MONDO:0010668"}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002949","HPO_Synonym__c":"Cervical spine fusion; Cervical vertebral fusion; Fused neck; Fusion of cervical vertebrae","HPO_Name__c":"Fused cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005107","HPO_Synonym__c":"Abnormality of the sacrum","HPO_Name__c":"Abnormal sacrum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002023","HPO_Synonym__c":"Absent anus","HPO_Name__c":"Anal atresia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1436","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of one half of the vertebral body in the thoracic spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008467","HPO_Name__c":"Thoracic hemivertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Gastroenterology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["christian syndrome"," chrs"," impaired intellectual development, skeletal dysplasia, and abducens palsy"," intellectual developmental disorder, x-linked, syndromic, christian type"," mental retardation-skeletal dysplasia"," skeletal dysplasia with intellectual disability syndrome"," x-linked skeletal dysplasia-intellectual disability syndrome"]}