Term ID: 31069
Name: Abnormal femoral torsion
Synonym:
Definition: Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.
Comments:
Reference: HP:0031069
Genes and Diseases: Child Nodes: ........Increased femoral torsion (HP:0031068) ........Decreased femoral torsion (HP:0031070) Sister Nodes: ..Abnormal femoral metaphysis morphology (HP:0006489) ..Abnormal femoral neck/head morphology (HP:0003366) ..Abnormality of femoral epiphysis (HP:0006499) ..Aplasia/hypoplasia of the femur (HP:0005613) ..Bifid femur (HP:0010443) ..Club-shaped distal femur (HP:0006384) ..Club-shaped proximal femur (HP:0006406) ..Disproportionate prominence of the femoral medial condyle (HP:0006437) ..Distal tapering femur (HP:0006408) ..Dumbbell-shaped femur (HP:0006375) ..Erlenmeyer flask deformity of the femurs (HP:0004975) ..Femoral bowing (HP:0002980) ..Femoral spur (HP:0031171) ..Femur fracture (HP:0031846) ..Increased femoral anteversion (HP:0012427) ..Low femoral bone density (HP:0031163) ..Trapezoidal distal femoral condyles (HP:0006432) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0031069 HP:0031069 Abnormal femoral torsion 0 ACTB CL E G H 60 132 ORPHA:79107 Developmental malformations-deafness-dystonia syndrome 72 HP:0031069 HP:0031069 Abnormal femoral torsion 0 ACTB CL E G H 60 132 OMIM:607371 Dystonia, juvenile-onset 72 HP:0031069 HP:0031069 Abnormal femoral torsion 0 CRTAP CL E G H 10491 2379 OMIM:610682 Osteogenesis imperfecta, type VII 124 HP:0031069 HP:0031069 Abnormal femoral torsion 0 FIBP CL E G H 9158 3705 ORPHA:500095 Tall stature-intellectual disability-renal anomalies syndrome HP:0040283 - Occasional 2 HP:0031069 HP:0031069 Abnormal femoral torsion 0 MADD CL E G H 8567 6766 OMIM:619005 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH 5 HP:0031069 HP:0031069 Abnormal femoral torsion 0 P3H1 CL E G H 64175 19316 OMIM:610915 Osteogenesis imperfecta, type VIII 43 HP:0031069 HP:0031069 Abnormal femoral torsion 0 PI4KA CL E G H 5297 8983 OMIM:616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 11 HP:0031069 HP:0031069 Abnormal femoral torsion 0 SLC26A2 CL E G H 1836 10994 ORPHA:56304 Atelosteogenesis type II 166 HP:0031069 HP:0008796 Femoral retroversion 1 ACTB CL E G H 60 132 ORPHA:79107 Developmental malformations-deafness-dystonia syndrome HP:0040281 - Very frequent 72 HP:0031069 HP:0008796 Femoral retroversion 1 ACTB CL E G H 60 132 OMIM:607371 Dystonia, juvenile-onset . 72 HP:0031069 HP:0008796 Femoral retroversion 1 CRTAP CL E G H 10491 2379 OMIM:610682 Osteogenesis imperfecta, type VII 124 HP:0031069 HP:0012427 Increased femoral anteversion 1 MADD CL E G H 8567 6766 OMIM:619005 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH 5 HP:0031069 HP:0008796 Femoral retroversion 1 P3H1 CL E G H 64175 19316 OMIM:610915 Osteogenesis imperfecta, type VIII 43 HP:0031069 HP:0008796 Femoral retroversion 1 PI4KA CL E G H 5297 8983 OMIM:616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis . 11 HP:0031069 HP:0012427 Increased femoral anteversion 1 SLC26A2 CL E G H 1836 10994 ORPHA:56304 Atelosteogenesis type II HP:0040282 - Frequent 166
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
