{"Name":"Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome","DiseaseID__c":"GARD:0004540","id":4540,"encodedName":"pseudoachondroplastic-spondyloepiphyseal-dysplasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome","Xref_IDs__c":"22567005; C0410538; C118635; C535819; DOID:0080047; MEDGEN:98378; MONDO:0008322; OMIM:177170; ORPHA:750","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008322","Disease_Description__c":"Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.","GARD_Name__c":"Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome","GARD_Synonym__c":"psach; pseudoachondroplasia; pseudoachondroplastic dysplasia; pseudoachondroplastic spondyloepiphyseal dysplasia; sed syndrome; spondyloepiphyseal dysplasia, pseudoachondroplastic","Curated_Disease_Description_Source__c":"GARD:0004540","Curated_Disease_Description__c":"Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches). Individuals with pseudoachondroplasia are not unusually short at birth; by the age of two, their growth rate falls below the standard growth curve. Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis; an unusually large range of joint movement (hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips. Some people with pseudoachondroplasia have legs that turn outward or inward (valgus or varus deformity). Sometimes, one leg turns outward and the other inward, which is called windswept deformity. Some affected individuals have a spine that curves to the side (scoliosis) or an abnormally curved lower back (lordosis). People with pseudoachondroplasia have normal facial features, head size, and intelligence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:750","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008322","ORPHANET_ID__c":"ORPHA:750","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pseudoacondroplasia","Spanish_Description_Source__c":"ORPHA:750","Spanish_Description__c":"La pseudoacondroplasia se caracteriza por un déficit de crecimiento grave y malformaciones, tales como piernas arqueadas e hiperlordosis.","Spanish_Disease_Name__c":"pseudoacondroplasia","Spanish_GARD_Synonym__c":"displasia espondiloepifisaria pseudoacondroplásica; displasia pseudoacondroplásica","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":"Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches). Individuals with pseudoachondroplasia are not unusually short at birth; by the age of two, their growth rate falls below the standard growth curve. Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis; an unusually large range of joint movement (hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips. Some people with pseudoachondroplasia have legs that turn outward or inward (valgus or varus deformity). Sometimes, one leg turns outward and the other inward, which is called windswept deformity. Some affected individuals have a spine that curves to the side (scoliosis) or an abnormally curved lower back (lordosis). People with pseudoachondroplasia have normal facial features, head size, and intelligence.","Curated_Disease_Description_Source__c":"GARD:0004540","GARD_Synonym__c":"psach; pseudoachondroplasia; pseudoachondroplastic dysplasia; pseudoachondroplastic spondyloepiphyseal dysplasia; sed syndrome; spondyloepiphyseal dysplasia, pseudoachondroplastic","Name":"Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Restricted Growth Association","Website__c":"https://rgauk.org/"},{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Little People UK","Website__c":"https://littlepeopleuk.org/"},{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.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":"Infancy","Provided_By__c":"ORPHA:750"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:750"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0410538"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004540","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1487","Source__c":"Gene Review","Xref__c":"NBK1487"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22567005","Source__c":"C0410538; MONDO:0008322","Xref__c":"22567005"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118635","Source__c":"C0410538; MONDO:0008322","Xref__c":"C118635"},{"URL__c":"https://www.orpha.net/en/disease/detail/750","Source__c":"C0410538; MONDO:0008322; ORPHA:750","Xref__c":"ORPHA:750"},{"URL__c":"https://www.omim.org/entry/177170","Source__c":"C0410538; MONDO:0008322; ORPHA:750","Xref__c":"OMIM:177170"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535819","Source__c":"MONDO:0008322","Xref__c":"C535819"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0410538","Source__c":"C0410538","Xref__c":"C0410538"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98378","Source__c":"C0410538","Xref__c":"MEDGEN:98378"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080047","Source__c":"MONDO:0008322","Xref__c":"DOID:0080047"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008322","Source__c":"GARD:0004540","Xref__c":"MONDO:0008322"},{"URL__c":"https://medlineplus.gov/genetics/condition/pseudoachondroplasia","Source__c":"GARD:0004540","Xref__c":"https://medlineplus.gov/genetics/condition/pseudoachondroplasia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COMP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/comp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008833","HPO_Name__c":"Irregular acetabular roof","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of a growth plate of a femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006499","HPO_Synonym__c":"Abnormality of femoral epiphysis; Abnormality of thighbone end part","HPO_Name__c":"Abnormal femoral epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100531","HPO_Synonym__c":"Wind-swept deformity of the knees","HPO_Name__c":"Wind-swept deformity of the knees","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anterior tongue-like protrusions of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004568","HPO_Synonym__c":"anterior beaking; Anterior beaking of vertebrae; Anterior beaking of vertebral bodies; Beaked vertebral bodies; Vertebral tongue-like protrusion","HPO_Name__c":"Beaking of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003756","HPO_Name__c":"Skeletal myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003093","HPO_Synonym__c":"Limited hip extension; Restricted hip extension","HPO_Name__c":"Limited hip extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal widening of the metaphyseal regions of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003016","HPO_Synonym__c":"Broad wide portion of long bone; Wide metaphyses; Widened long bone metaphyses; Widened metaphyses","HPO_Name__c":"Metaphyseal widening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009107","HPO_Name__c":"Abnormal ossification involving the femoral head and neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","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:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal lack of stability of the cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010646","HPO_Name__c":"Cervical spine instability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The ankle joint can move, passively and/or actively, beyond normal limits along its physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006460","HPO_Synonym__c":"Increased laxity of ankles","HPO_Name__c":"Ankle hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002761","HPO_Synonym__c":"Generalized joint laxity; Hypermobility of all joints","HPO_Name__c":"Generalized joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Carpal bones with irregular or fragmented margins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004236","HPO_Name__c":"Irregular carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002970","HPO_Synonym__c":"Genu vara; Genua vara; Outward bow-leggedness; Outward bowing at knees","HPO_Name__c":"Genu varum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003025","HPO_Synonym__c":"Frayed, irregular metaphyses; Frayed, irregular, metaphyses; Irregular metaphyses; Irregular wide portion of a long bone; Metaphyseal fraying; Metaphyseal irregularities","HPO_Name__c":"Metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","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:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009803","HPO_Synonym__c":"Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges","HPO_Name__c":"Short phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the bony pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008839","HPO_Synonym__c":"Hypoplastic pelvic bones; Small pelvis","HPO_Name__c":"Hypoplastic pelvis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010579","HPO_Synonym__c":"Cone-shaped end part of bone; Cone-shaped epiphyses; Coned epiphyses","HPO_Name__c":"Cone-shaped epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction in the size or volume of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010585","HPO_Synonym__c":"Small end part of bone","HPO_Name__c":"Small epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003090","HPO_Synonym__c":"Small capital femoral epiphyses; Small femoral capital epiphyses; Small innermost thighbone end part; Small proximal femoral epiphyses; Underdevelopment of the innermost thighbone end part","HPO_Name__c":"Hypoplasia of the capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010582","HPO_Synonym__c":"Irregular end part of long bone","HPO_Name__c":"Irregular epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008807","HPO_Synonym__c":"Dysplastic acetabulae","HPO_Name__c":"Acetabular dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:750","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008873","HPO_Synonym__c":"Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism","HPO_Name__c":"Disproportionate short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limited ability to straighten the arm at the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001377","HPO_Synonym__c":"Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Reduced elbow extension; Restricted elbow extension","HPO_Name__c":"Limited elbow extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003311","HPO_Synonym__c":"Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process","HPO_Name__c":"Hypoplasia of the odontoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003180","HPO_Synonym__c":"Acetabular angle flat; Flat acetabular roofs; Flattened acetabular roof; Horizontal acetabulae; Horizontal acetabular roof; Horizontal acetabular roofs","HPO_Name__c":"Flat acetabular roof","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045086","HPO_Synonym__c":"Knee joint over-flexibility","HPO_Name__c":"Knee joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of stability of a distal joint (e.g., finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020152","HPO_Synonym__c":"Distal joint laxity","HPO_Name__c":"Distal joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Occasional (5-29%)","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:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006149","HPO_Name__c":"Increased laxity of fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:750","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal reduction in length of all metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005720","HPO_Name__c":"Shortening of all metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["psach"," pseudoachondroplasia"," pseudoachondroplastic dysplasia"," pseudoachondroplastic spondyloepiphyseal dysplasia"," sed syndrome"," spondyloepiphyseal dysplasia, pseudoachondroplastic"]}