{"Name":"Spondylometaphyseal dysplasia, Kozlowski type","DiseaseID__c":"GARD:0003047","id":3047,"encodedName":"spondylometaphyseal-dysplasia-kozlowski-type","IsDeleted":false,"Disease_Name_Full__c":"Spondylometaphyseal dysplasia, Kozlowski type","Xref_IDs__c":"C0265280; C535797; DOID:0111554; MEDGEN:82698; MONDO:0008477; OMIM:184252; ORPHA:93314","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008477","Disease_Description__c":"Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.","GARD_Name__c":"Spondylometaphyseal dysplasia, Kozlowski type","GARD_Synonym__c":"dysmorphism arthrogryposis skeletal maturation advanced; jequier-kozlowski syndrome; kozlowski spondylometaphyseal dysplasia; skeletal dysplasia jequier-kozlowski type; smd kozlowski type; smdk; spondylometaphyseal dysplasia kozlowski type","Curated_Disease_Description_Source__c":"GARD:0003047","Curated_Disease_Description__c":"Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. Spondylorefers to the spine (vertebrae), \"metaphysis\" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and \"dysplasia\" means abnormal growth. It usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed. Early osteoarthritis of the joints is also common. Other signs and symptoms include small hands and fingers, spine deformities, and X-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone. Spondylometaphyseal dysplasia, Kozlowski type is caused by genetic changes in the TRPV4 gene. Inheritance is autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:93314","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008477","ORPHANET_ID__c":"ORPHA:93314","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondilometafisaria tipo kozlowski","Spanish_Description_Source__c":"ORPHA:93314","Spanish_Description__c":"La displasia espondilometafisaria, tipo Kozlowski, se caracteriza por talla baja (enanismo de tronco corto), escoliosis, anomalías metafisarias en el fémur (prominente en el cuello femoral y en el área trocantérica), coxa vara y platispondilia generalizada.","Spanish_Disease_Name__c":"displasia espondilometafisaria tipo kozlowski","Spanish_GARD_Synonym__c":null,"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":"Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. Spondylorefers to the spine (vertebrae), \"metaphysis\" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and \"dysplasia\" means abnormal growth. It usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed. Early osteoarthritis of the joints is also common. Other signs and symptoms include small hands and fingers, spine deformities, and X-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone. Spondylometaphyseal dysplasia, Kozlowski type is caused by genetic changes in the TRPV4 gene. Inheritance is autosomal dominant.","Curated_Disease_Description_Source__c":"GARD:0003047","GARD_Synonym__c":"dysmorphism arthrogryposis skeletal maturation advanced; jequier-kozlowski syndrome; kozlowski spondylometaphyseal dysplasia; skeletal dysplasia jequier-kozlowski type; smd kozlowski type; smdk; spondylometaphyseal dysplasia kozlowski type","Name":"Spondylometaphyseal dysplasia, Kozlowski 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/"},{"Account_Name__c":"European Reference Network on Bone Disorders","Website__c":"https://ernbond.eu/"}],"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:93314"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265280"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003047","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK540447","Source__c":"Gene Review","Xref__c":"NBK540447"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK201366","Source__c":"Gene Review","Xref__c":"NBK201366"},{"URL__c":"https://www.omim.org/entry/184252","Source__c":"C0265280; MONDO:0008477; ORPHA:93314","Xref__c":"OMIM:184252"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535797","Source__c":"MONDO:0008477","Xref__c":"C535797"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265280","Source__c":"C0265280","Xref__c":"C0265280"},{"URL__c":"https://www.orpha.net/en/disease/detail/93314","Source__c":"C0265280; MONDO:0008477; ORPHA:93314","Xref__c":"ORPHA:93314"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111554","Source__c":"MONDO:0008477","Xref__c":"DOID:0111554"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82698","Source__c":"C0265280","Xref__c":"MEDGEN:82698"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111304003","Source__c":"C0265280","Xref__c":"111304003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008477","Source__c":"GARD:0003047","Xref__c":"MONDO:0008477"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRPV4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trpv4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003177","HPO_Synonym__c":"Square iliac bones; Squaring of iliac bones","HPO_Name__c":"Squared iliac bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003059","HPO_Name__c":"Abnormality of the radioulnar joints","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","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:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003121","HPO_Synonym__c":"Limb contractures","HPO_Name__c":"Limb joint contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","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:93314","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:93314","HPO_Frequency__c":"Occasional (5-29%)","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:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A toe that appears disproportionately short compared to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001831","HPO_Synonym__c":"Brachydactyly of the foot; Hypoplasia of the toe; Hypoplastic toes; Short foot phalanges; Short toe; Short toes; Stubby toes","HPO_Name__c":"Short toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A broad chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000914","HPO_Synonym__c":"Shield chest","HPO_Name__c":"Shield chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010743","HPO_Synonym__c":"Hypoplasia of the metatarsal bones; Hypoplastic metatarsals; Short long bone of foot; Short metatarsal bone; Short metatarsals; Shortened metatarsals","HPO_Name__c":"Short metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003170","HPO_Synonym__c":"Abnormality of the acetabulum; Abnormality of the hipbone socket; Acetabular abnormality","HPO_Name__c":"Abnormal acetabulum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal flattening of an epiphysis of femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030289","HPO_Synonym__c":"Flattended end part of thigh bone","HPO_Name__c":"Flattened femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","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:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002986","HPO_Synonym__c":"Bowed radii; Bowed radius; Bowing of outer large bone of the forearm; Bowing of radius bone of the forearm","HPO_Name__c":"Radial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003521","HPO_Synonym__c":"Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism","HPO_Name__c":"Disproportionate short-trunk short stature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001248","HPO_Synonym__c":"Long bone shortening of the hand; Short long bones of the hand; Shortened long tubular bones of the hand; Shortened tubular bones of the hand","HPO_Name__c":"Short tubular bones of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Very frequent (80-99%)","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:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003907","HPO_Synonym__c":"Abnormality of the humeral metaphyses; Abnormality of the wide portion of the long bone in upper arm","HPO_Name__c":"Abnormal humeral metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002869","HPO_Synonym__c":"Flared iliac wings","HPO_Name__c":"Flared iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","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:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030320","HPO_Name__c":"Increased intervertebral space","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003088","HPO_Synonym__c":"Premature arthritis; Premature osteoarthritis","HPO_Name__c":"Premature osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","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:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004558","HPO_Synonym__c":"Flattened cervical vertebral bodies","HPO_Name__c":"Cervical platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003185","HPO_Synonym__c":"Short sacroiliac notch; Shortened sacroiliac notches; Small sacroiliac notch","HPO_Name__c":"Short greater sciatic notch","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","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:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of one or more epiphyses of the phalanges of the fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010228","HPO_Synonym__c":"Absent end part of fingers; Absent epiphyses of the fingers","HPO_Name__c":"Absent epiphyses of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ilium, the largest and uppermost bone of the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002867","HPO_Synonym__c":"Abnormality of the ilium; Iliac abnormalities","HPO_Name__c":"Abnormal ilium morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Over curvature of the thoracic region, leading to a round back or if sever to a hump.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002942","HPO_Synonym__c":"Accentuated thoracic kyphosis; Exaggerated thoracic kyphosis","HPO_Name__c":"Thoracic kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003336","HPO_Name__c":"Abnormal enchondral ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of one or more carpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001498","HPO_Synonym__c":"Hypoplasia of carpal bones; Hypoplastic carpal bones; Small carpal bones; Small carpals","HPO_Name__c":"Carpal bone hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","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:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Frontal schisis (cleft or cleavage) of vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003417","HPO_Synonym__c":"coronal cleft of vertebrae; Coronal clefts; Coronal vertebral clefts; Vertebral coronal clefts","HPO_Name__c":"Coronal cleft vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Very frequent (80-99%)","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:93314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008422","HPO_Synonym__c":"anterior wedging; Wedge-shaped vertebrae; Wedged vertebrae","HPO_Name__c":"Vertebral wedging","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93314","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["dysmorphism arthrogryposis skeletal maturation advanced"," jequier-kozlowski syndrome"," kozlowski spondylometaphyseal dysplasia"," skeletal dysplasia jequier-kozlowski type"," smd kozlowski type"," smdk"," spondylometaphyseal dysplasia kozlowski type"]}