{"Name":"Acromesomelic dysplasia 2C, Hunter-Thompson type","DiseaseID__c":"GARD:0000506","id":506,"encodedName":"acromesomelic-dysplasia-2c-hunter-thompson-type","IsDeleted":false,"Disease_Name_Full__c":"Acromesomelic dysplasia 2C, Hunter-Thompson type","Xref_IDs__c":"C2930970; DOID:0080051; MEDGEN:419681; MONDO:0008717; OMIM:201250; ORPHA:968","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:0008717","Disease_Description__c":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.","GARD_Name__c":"Acromesomelic dysplasia 2C, Hunter-Thompson type","GARD_Synonym__c":"acromesomelic dysplasia hunter-thompson type; acromesomelic dysplasia, hunter-thompson type; hunter-thompson dysplasia","Curated_Disease_Description_Source__c":"MONDO:0008717","Curated_Disease_Description__c":"A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.","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:968","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008717","ORPHANET_ID__c":"ORPHA:968","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia acromesomélica tipo hunter-thompson","Spanish_Description_Source__c":"ORPHA:968","Spanish_Description__c":"Es una forma de displasia acromesomélica de herencia autosómica recesiva caracterizada por talla baja extrema (talla adulta final de aproximadamente 120 cm) con anomalías localizadas en las extremidades (afectando a las extremidades inferiores en mayor grado que a las superiores, siendo los segmentos distales y centrales los más afectados), incluyendo acortamiento marcado, ausencia o fusión de huesos tubulares en manos y pies, y luxación de las grandes articulaciones. Los rasgos faciales y la inteligencia son normales, al igual que en la displasia acromesomélica tipo Grebe y en la displasia acromesomélica tipo Maroteaux.","Spanish_Disease_Name__c":"displasia acromesomélica tipo hunter-thompson","Spanish_GARD_Synonym__c":"enanismo acromesomélico","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 autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.","Curated_Disease_Description_Source__c":"MONDO:0008717","GARD_Synonym__c":"acromesomelic dysplasia hunter-thompson type; acromesomelic dysplasia, hunter-thompson type; hunter-thompson dysplasia","Name":"Acromesomelic dysplasia 2C, Hunter-Thompson type","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":"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:968"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:968"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000506","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/201250","Source__c":"C2930970; MONDO:0008717; ORPHA:968","Xref__c":"OMIM:201250"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080051","Source__c":"MONDO:0008717","Xref__c":"DOID:0080051"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2930970","Source__c":"C2930970","Xref__c":"C2930970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419681","Source__c":"C2930970","Xref__c":"MEDGEN:419681"},{"URL__c":"https://www.orpha.net/en/disease/detail/968","Source__c":"C2930970; MONDO:0008717; ORPHA:968","Xref__c":"ORPHA:968"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008717","Source__c":"GARD:0000506","Xref__c":"MONDO:0008717"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=389167007","Source__c":"C2930970","Xref__c":"389167007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","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:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007598","HPO_Name__c":"Bilateral single transverse palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002644","HPO_Synonym__c":"Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology","HPO_Name__c":"Abnormal pelvic girdle bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the foot with the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003028","HPO_Synonym__c":"Abnormality of the ankles","HPO_Name__c":"Abnormality of the ankle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypoplasia (congenital reduction in size) of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009778","HPO_Synonym__c":"Hypoplastic thumb; Hypoplastic thumbs; Hypoplastic/small thumb; Short thumb; Short thumbs; Small thumbs; Thumb brachydactyly; Thumb hypoplasia","HPO_Name__c":"Short thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002999","HPO_Synonym__c":"Dislocated kneecap; Dislocated patellae; Dislocation of patella","HPO_Name__c":"Patellar dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severely shortened metacarpal with a cuboidal appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006011","HPO_Synonym__c":"Short, cube shaped long bone of hand","HPO_Name__c":"Cuboidal metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006014","HPO_Synonym__c":"Abnormally shaped wrist bones","HPO_Name__c":"Abnormally shaped carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Small hands and feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003086","HPO_Name__c":"Acromesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Frequent (30-79%)","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:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008890","HPO_Name__c":"Severe short-limb dwarfism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:968","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003042","HPO_Synonym__c":"Dislocations of the elbows; Elbow dislocation; Elbow dislocations; Radiocapitellar dislocation; Radiohumeral dislocation; Ulnohumeral dislocation","HPO_Name__c":"Elbow dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["acromesomelic dysplasia hunter-thompson type"," acromesomelic dysplasia, hunter-thompson type"," hunter-thompson dysplasia"]}