{"Name":"Pelviscapular dysplasia","DiseaseID__c":"GARD:0001555","id":1555,"encodedName":"pelviscapular-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Pelviscapular dysplasia","Xref_IDs__c":"719299009; C1850040; C535550; MEDGEN:342400; MONDO:0009845; OMIM:260660; ORPHA:93333","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009845","Disease_Description__c":"Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.","GARD_Name__c":"Pelviscapular dysplasia","GARD_Synonym__c":"cousin syndrome; familial pelvis-scapular dysplasia; pelviscapular dysplasia syndrome","Curated_Disease_Description_Source__c":"GARD:0001555","Curated_Disease_Description__c":"Pelviscapular dysplasia is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips. Intelligence may vary from normal to moderately delayed. Genetic changes in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.","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:93333","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009845","ORPHANET_ID__c":"ORPHA:93333","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de cousin-walbraum-cegarra","Spanish_Description_Source__c":"ORPHA:93333","Spanish_Description__c":"La displasia escapular y pélvica (síndrome de Cousin) se caracteriza por asociar una displasia escapular y pélvica a alteraciones epifisarias, enanismo congénito y dismorfismo facial.","Spanish_Disease_Name__c":"síndrome de cousin-walbraum-cegarra","Spanish_GARD_Synonym__c":null,"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":"Pelviscapular dysplasia is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips. Intelligence may vary from normal to moderately delayed. Genetic changes in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.","Curated_Disease_Description_Source__c":"GARD:0001555","GARD_Synonym__c":"cousin syndrome; familial pelvis-scapular dysplasia; pelviscapular dysplasia syndrome","Name":"Pelviscapular dysplasia","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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93333"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93333"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1850040"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001555","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342400","Source__c":"C1850040","Xref__c":"MEDGEN:342400"},{"URL__c":"https://www.orpha.net/en/disease/detail/93333","Source__c":"C1850040; MONDO:0009845; ORPHA:93333","Xref__c":"ORPHA:93333"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850040","Source__c":"C1850040","Xref__c":"C1850040"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535550","Source__c":"MONDO:0009845","Xref__c":"C535550"},{"URL__c":"https://www.omim.org/entry/260660","Source__c":"C1850040; MONDO:0009845; ORPHA:93333","Xref__c":"OMIM:260660"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719299009","Source__c":"C1850040; MONDO:0009845","Xref__c":"719299009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009845","Source__c":"GARD:0001555","Xref__c":"MONDO:0009845"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBX15","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","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:93333","HPO_Frequency__c":"Frequent (30-79%)","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:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ilium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000946","HPO_Synonym__c":"Short and small iliac bones; Small iliac bones","HPO_Name__c":"Hypoplastic ilia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","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:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormal shortening of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003097","HPO_Synonym__c":"Femoral hypoplasia; Hypoplasia of the femora; Short femurs; Short thighbone","HPO_Name__c":"Short femur","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the leg in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004987","HPO_Synonym__c":"Mesomelia of the lower limbs; Mesomelic lower limb shortening","HPO_Name__c":"Mesomelic leg shortening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","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"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002693","HPO_Synonym__c":"Abnormality of cranial base; Abnormality of the skull base","HPO_Name__c":"Abnormal skull base morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003943","HPO_Synonym__c":"Abnormality of the joint spaces of the elbow","HPO_Name__c":"Abnormality of the joint spaces of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excess skin around the neck, often lying in horizontal folds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005989","HPO_Synonym__c":"Excess neck skin; Excess skin over the neck; Excessive nuchal skin; Redundant neck skin; Redundant nuchal skin; Redundant skin folds of neck; Redundant skin over the neck","HPO_Name__c":"Redundant neck skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003041","HPO_Synonym__c":"Fusion of upper and lower arm bones; Humeral radial synostosis; Humeral-radial synostosis; Radiohumeral synostosis of elbow; Synostosis of radius and humerus","HPO_Name__c":"Humeroradial synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001374","HPO_Synonym__c":"Congenital dislocation of the hip; Congenital dislocation of the hips; Congenital hip anomaly; Congenital hip dislocations; Dislocated hip since birth","HPO_Name__c":"Congenital hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Underdeveloped scapula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000882","HPO_Synonym__c":"Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae; Small shoulder blade","HPO_Name__c":"Hypoplastic scapulae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000402","HPO_Synonym__c":"External auditory canal stenosis; Narrow auditory canals; Narrow external auditory canals; Narrow external auditory meatus; Narrowing of passageway from outer ear to middle ear; Stenotic external auditory canal","HPO_Name__c":"Stenosis of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["cousin syndrome"," familial pelvis-scapular dysplasia"," pelviscapular dysplasia syndrome"]}