banner
Genes Phenotypes Help, News, Blog

Gene: Qrfpr MGI:2677633

Log in to follow

Gene Summary

Name:
pyroglutamylated RFamide peptide receptor
Synonyms:
AQ27,  Gpr103

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of left fundus

16 Images

View images
Eye Morphology

VIP of right fundus

16 Images

View images
Eye Morphology

VIP of right eye

16 Images

View images
Eye Morphology

VIP of left eye

16 Images

View images

Human diseases caused by Qrfpr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Qrfpr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Parastremmatic Dwarfism
Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... OMIM:271530
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor... OMIM:277950
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Scoliosis, Joint stiffness OMIM:166700
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Hip Dysplasia, Beukes Type
Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ... ORPHA:2114
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones ORPHA:53697
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Irregular vertebral endplates, Platys... OMIM:609223
Spastic Paraplegia 18B, Autosomal Recessive
Ankle clonus, Kyphosis, Joint contracture, Scoliosis OMIM:611225
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:259450
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis OMIM:615198
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... OMIM:616583
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Scoliosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3319
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Platyspondyly, Delayed ossification of carpal bones, Irregular acet... OMIM:617974
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Bethlem Myopathy 2
Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis OMIM:236660
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Gen... ORPHA:85198
Eiken Syndrome
Absence of the sacrum, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Delay... ORPHA:79106
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Coronal cleft vertebrae, Epiphyseal stippling, Abnormal bone ossification, Coarse met... ORPHA:1952
Spondylosis, Cervical
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis OMIM:184300
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... ORPHA:2771
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column OMIM:602475
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... OMIM:617719
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... OMIM:259440
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:618392
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... OMIM:313420
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... ORPHA:2635
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... ORPHA:337
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... OMIM:613982
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Abnorm... ORPHA:96183
Weismann-Netter Syndrome
Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Scoliosis ORPHA:1570
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... OMIM:610967
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Short neck ORPHA:2015
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures ORPHA:3454
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies ORPHA:1802
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Kuskokwim Syndrome
Joint stiffness, Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the patella ORPHA:1149
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den... ORPHA:970
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis, Joint hyperflexibility ORPHA:1875
Spinal Dysplasia, Anhalt Type
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... OMIM:601344
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Scoliosis... OMIM:620386
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Enlarged joints, Abnormal vertebral morphology, Genu valgum ORPHA:166024
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... OMIM:208230
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hip dislocation, Scoliosis OMIM:300434
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed... OMIM:610968
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis OMIM:234250
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae OMIM:230650
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Acropectorovertebral Dysplasia
Capitate-hamate fusion, Spina bifida occulta at S1, Spina bifida occulta at L5, Abnormal vertebra... OMIM:102510
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:1548
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Sillence Syndrome
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... ORPHA:3168
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... OMIM:166220
Parkinson-Dementia Syndrome
Kyphoscoliosis OMIM:260540
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Abnormality of the vertebral endplates, Fractures ... OMIM:166600
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Joint hyperflexibility ORPHA:319199
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Osteoporosis, Scoliosis OMIM:618234
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Reduced bone mineral densit... OMIM:620232
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... OMIM:313400
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Hip dislocation, Scoliosis OMIM:616756
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,... OMIM:607326
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Scoliosis, Increased susceptibility to fractures OMIM:615066
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera... OMIM:600785
Fetal Akinesia Deformation Sequence 4
Kyphosis, Arthrogryposis multiplex congenita, Camptodactyly, Short neck OMIM:618393
Metatropic Dysplasia
Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl... OMIM:156530
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... OMIM:619795
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, Scoliosis OMIM:184400
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flexion contra... ORPHA:75840
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility OMIM:614898
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, F... OMIM:613330
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxation, Multiple joint ... ORPHA:93360
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine ORPHA:48431
Sandhoff Disease
Kyphosis ORPHA:796
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density ORPHA:2617
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Short neck, Kyphosis, Wide anterior fontanel, Abnormality of the elbow, ... ORPHA:3098
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... OMIM:615290
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita ORPHA:178148
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu valgum, Scoliosis OMIM:252605
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Abnormal acetabulum morphology, Limb joint contract... ORPHA:93314
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:85317
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Arthrogryposis, Distal, Type 4
Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, ... OMIM:609128
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... OMIM:619040
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... ORPHA:536516
Weismann-Netter Syndrome
Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Platyspondyly, Thoracic kyphosis, Thin bony cortex OMIM:619638
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Shoulder dislocation, Scoliosis, Joint hyperflexibility ORPHA:2181
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Ulnar deviation of the wrist, Limited hip ex... OMIM:177170
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Kyphoscoliosis, Genu valgum OMIM:255710
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration OMIM:619656
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Spina bifida occulta ORPHA:2983
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture OMIM:618237
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Fle... OMIM:618484
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat... OMIM:617821
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Wide anteri... OMIM:610915
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Geroderma Osteodysplastica
Recurrent fractures, Vertebral compression fracture, Hip dislocation, Abnormal form of the verteb... ORPHA:2078
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Beaki... ORPHA:137834
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Joint hypermobility, Kyphoscoliosis OMIM:616470
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... ORPHA:93352
Diastrophic Dysplasia
Joint dislocation, Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Elbo... ORPHA:628
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion co... OMIM:184252
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... ORPHA:93346
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Mucopolysaccharidosis, Type Iva
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy... OMIM:253000
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Richieri Costa-Da Silva Syndrome
Joint dislocation, Kyphoscoliosis, Short neck, Limitation of joint mobility, Vertebral wedging, G... ORPHA:3101
Sialidosis Type 2
Kyphosis, Flexion contracture, Osteoporosis ORPHA:87876
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... OMIM:231070
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Short neck OMIM:611890
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Abnormality of the elbow, Flexion contracture, Abnormal form of ... ORPHA:263463
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio... OMIM:616294
Joint Laxity, Short Stature, And Myopia
Joint hypermobility, Multiple joint dislocation, Cervical kyphosis, Kyphoscoliosis OMIM:617662
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Flynn-Aird Syndrome
Kyphosis, Bone cyst, Scoliosis, Joint stiffness ORPHA:2047
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral density, Scoliosi... OMIM:112240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss... OMIM:600081
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis ORPHA:1545
Clark-Baraitser syndrome
Joint laxity, Genu recurvatum, Kyphosis, Genu valgum, Scoliosis OMIM:300602
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:816
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Ankle clonus, Kyphosis, Flexion contracture, Scoliosis OMIM:609541
Mucopolysaccharidosis Type 4
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Genu valgum, Reduc... ORPHA:582
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteoporosis, Flexion contrac... ORPHA:3409
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:2916
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis OMIM:255200
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis OMIM:619718
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:276950
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Art... ORPHA:324964
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, Reduced bone mi... OMIM:616507
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Alpha-Mannosidosis
Craniofacial hyperostosis, Short neck, Kyphosis, Arthritis, Scoliosis, Synostosis of joints ORPHA:61
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss... OMIM:241530
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of the wrists, Delayed ... OMIM:300554
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Ruvalcaba Syndrome
Kyphosis, Limited elbow extension, Scoliosis OMIM:180870
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Kyphosis, Scoliosis OMIM:617435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuerm... OMIM:108300
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... OMIM:254090
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphosis, Flexion contrac... OMIM:618291
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ... ORPHA:352490
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Ost... OMIM:251450
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Wide anterior fontanel OMIM:618272
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... OMIM:614856
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco... ORPHA:2050
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis ORPHA:79327
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Osteoporosis, Scoliosis OMIM:615381
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:615834
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Spastic Paraplegia 46, Autosomal Recessive
Ankle clonus, Kyphosis, Scoliosis OMIM:614409
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... OMIM:253010
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Scoliosis, Camptoda... OMIM:300280
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Increased bone mineral density, Hyperlordosis, Short neck, K... ORPHA:1798
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Marfanoid Habitus With Situs Inversus
Kyphosis, Hyperextensibility of the finger joints, Genu recurvatum, Scoliosis OMIM:609008
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Osteoporosis OMIM:219080
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip dislocation, Genu ... ORPHA:171436
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck ORPHA:3191
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis OMIM:610475
Achondroplasia
Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Wide anterior fontanel, Spinal canal ste... ORPHA:15
Fountain Syndrome
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi... ORPHA:3219
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Enlargement of the wrists, Delayed... ORPHA:289157
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss... OMIM:264700
Arthrogryposis, Distal, Type 5
Limited wrist extension, Kyphosis, Distal arthrogryposis, Congenital finger flexion contractures,... OMIM:108145
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss... OMIM:277440
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, Kyphosis, Abnormal ... ORPHA:2311
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis OMIM:128100
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Hyperlordosis, Short neck, Kyphosis, Abnormal... ORPHA:2789
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo... ORPHA:2655
Dent Disease 1
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Enlargement of the wrists, Delayed ... OMIM:300009
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum ORPHA:583
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:617143
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:98855
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pathologic frac... ORPHA:77259
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic... OMIM:223800
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebral segmentation defe... ORPHA:1005
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Congenital foot contractures, Scoliosis, Ca... OMIM:314580
Marinesco-Sjogren Syndrome
Cubitus valgus, Kyphosis, Flexion contracture, Scoliosis OMIM:248800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Hip dislocation, Scoliosis ORPHA:464282
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Elbow flexion c... ORPHA:98863
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Limitation of joint mobility, Joint hyperflexibility ORPHA:93274
Ruvalcaba Syndrome
Kyphosis, Abnormality of the elbow, Scoliosis, Abnormal vertebral epiphysis morphology, Synostosi... ORPHA:3121
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies OMIM:219090
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Kyphosis, Flexion contracture, Bone cy... ORPHA:3042
Pycnodysostosis
Joint laxity, Persistent open anterior fontanelle, Increased bone mineral density, Hyperlordosis,... ORPHA:763
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Short neck, Kyphosis, Achilles tendon contracture, Flexion contracture, Hip disl... OMIM:301041
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Gm1-Gangliosidosis, Type I
Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of verteb... OMIM:230500
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosis OMIM:239000
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:98853
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:615547
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis OMIM:610489
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
3M Syndrome
Congenital hip dislocation, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Abno... ORPHA:2616
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Knee... OMIM:620351
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase... ORPHA:2769
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis, Joint stiffness ORPHA:702
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Osteoporosis, Scoliosis OMIM:617190
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Hip dislocation, Short neck OMIM:608776
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Irregular vertebral endplates... OMIM:271700
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platy... OMIM:618019
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Kyphosis, Joint hyperflexibility, Scoliosis, Genu varum ORPHA:2479
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Hurler-Scheie Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi... OMIM:607015
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Prominent metopic ridge, Scoliosis ORPHA:261144
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Hypoplasia of the odon... OMIM:253220
Harrod Syndrome
Kyphosis, Scoliosis, Joint hyperflexibility ORPHA:2115
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Lambdoidal craniosynostosis, Coronal craniosynostosis, Delay... OMIM:603116
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... OMIM:130720
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Kyphosis OMIM:300354
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Holt-Oram Syndrome
Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness ORPHA:392
Thanatophoric Dysplasia Type 1
Joint stiffness, Abnormal sacroiliac joint morphology, Wide anterior fontanel, Kyphosis, Platyspo... ORPHA:1860
Marden-Walker Syndrome
Short neck, Kyphosis, Wide anterior fontanel, Radioulnar synostosis, Congenital contracture, Scol... OMIM:248700
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Hip subluxation, Scoliosis OMIM:619557
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Hip dislocation, S... ORPHA:140
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Basilar Impression, Primary
Kyphoscoliosis, Short neck OMIM:109500
Trisomy 20P
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Reduced bon... ORPHA:261318
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Joint hypermobility, Camptodactyly of finger, Kyphosis, Scoliosis, Bicoronal synostosis OMIM:619951
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Osteopenia, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Kyphosc... ORPHA:536532
Dent Disease
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Enlargement of the wrists, Delayed ... ORPHA:1652
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Kyphosis, Genu recurvatum, Scoliosis ORPHA:364028
15Q24 Microdeletion Syndrome
Joint laxity, Kyphosis, Scoliosis ORPHA:94065
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral... ORPHA:354
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Genu valgum, Scoliosis, Finger joint hyperm... OMIM:618493
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Hip dislocation, Scoliosis, Butterfly vertebrae ORPHA:958
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Frank-Ter Haar Syndrome
Osteopenia, Cortical irregularity, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyph... OMIM:249420
Hurler Syndrome
Short neck, Joint stiffness, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, C... OMIM:607014
Jaberi-Elahi Syndrome
Kyphosis, Joint hypermobility, Scoliosis, Joint stiffness OMIM:617988
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Osteopenia, Abnormal trabecular bone morphology, Patellar aplasia, Finger symp... ORPHA:221016
Cockayne Syndrome Type 2
Kyphosis, Flexion contracture, Scoliosis ORPHA:90322
Autosomal Recessive Ataxia, Beauce Type
Ankle clonus, Kyphosis, Scoliosis ORPHA:88644
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmentation defec... ORPHA:96169
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Cervica... OMIM:613795
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Short neck, Kyphosis, Joint hyperflexibility, Scoliosis, Cubitus valgus ORPHA:85293
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Genu valgum, Scoliosis OMIM:618443
Distal Triplication 15Q
Craniosynostosis, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly ORPHA:314588
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... ORPHA:508533
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of the patella, Increased sus... ORPHA:2909
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Kyphosis, Scoliosis, Joint contracture OMIM:609029
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Protrusio acetabu... ORPHA:800
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Kyphosis, Cranial hyperostosis, Limitation of joint mobility, Joi... ORPHA:2658
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Osteopor... ORPHA:955
Classic Homocystinuria
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis ORPHA:394
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Patellar aplasia, Finger symphalangism, Patellar... ORPHA:221008
Brown-Vialetto-Van Laere Syndrome 1
Ankle clonus, Kyphosis, Scoliosis OMIM:211530
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Kyphosis, Hip dislocation, Osteoporosis, Rickets, Genu valgum, Osteolys... ORPHA:198
Trisomy 13
Kyphosis, Scoliosis ORPHA:3378
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Wide anterior fontanel OMIM:616482
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibilit... ORPHA:192
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Micro Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:2510
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Occipital Horn Syndrome
Joint laxity, Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Osteoporosis... OMIM:304150
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Genu varum ORPHA:1969
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Increased bone mineral density, Kyphosis, Hip dislocation, I... OMIM:119600
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Kyphosis, Wide anterior fontanel, Coronal craniosynostosis, Delayed cranial su... ORPHA:85199
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, S... OMIM:300966
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Alstrom Syndrome
Kyphosis, Hyperostosis frontalis interna, Scoliosis OMIM:203800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Contracture of the proximal interphalan... ORPHA:2232
Noonan Syndrome 14
Cubitus valgus, Kyphosis, Limited elbow extension, Short neck OMIM:619745
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Multiple Pterygium-Malignant Hyperthermia Syndrome
Prominent metopic ridge, Camptodactyly of finger, Kyphosis, Scoliosis, Arthrogryposis multiplex c... ORPHA:2215
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Joint hypermobility, Scoliosis, Camptodactyly OMIM:617602
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Kyphosis, Hip dislocation, Scoliosis, J... OMIM:610443
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Camurati-Engelmann Disease
Hyperlordosis, Kyphosis, Craniofacial osteosclerosis, Limitation of joint mobility, Genu valgum, ... ORPHA:1328
Alexander Disease
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis ORPHA:58
Mucopolysaccharidosis, Type Ii
Kyphosis, Tracheobronchomalacia, Flexion contracture, Short neck OMIM:309900
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v... OMIM:309000
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Hyperextensibility of the finger joints, Craniosynostosis OMIM:616914
Ramon Syndrome
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis OMIM:266270
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Flexion contracture, Scoliosis ORPHA:500055
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Juvenile rheumatoid arthritis, Arthritis ORPHA:1855
2Q31.1 Microdeletion Syndrome
Prominent metopic ridge, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation de... ORPHA:251014
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Mgat2-Cdg
Osteopenia, Kyphosis, Scoliosis ORPHA:79329
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Kyphosis, Lim... ORPHA:576
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Scoliosis ORPHA:398069
Digeorge Syndrome
Pilonidal sinus, Patellar dislocation, Scoliosis, Intervertebral disc degeneration OMIM:188400
2P15P16.1 Microdeletion Syndrome
Prominent metopic ridge, Camptodactyly of finger, Kyphosis, Patellar dislocation, Scoliosis ORPHA:261349
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Genu varum, Ant... OMIM:300106
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Finger symphalangism, Reduced bone mineral density, Vertebra... ORPHA:2911
Monosomy 9Q22.3
Short neck, Kyphosis, Joint hyperflexibility, Abnormality of the vertebral column, Metopic synost... ORPHA:77301
Cohen Syndrome
Kyphosis, Genu valgum, Joint hyperflexibility, Scoliosis, Cubitus valgus ORPHA:193
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Stickler Syndrome
Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation, Spinal canal s... ORPHA:828
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Kyphosis, Flexion contracture OMIM:212065
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Prader-Willi Syndrome
Osteopenia, Kyphosis, Osteoporosis, Genu valgum, Scoliosis OMIM:176270
Aspartylglucosaminuria
Joint laxity, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Pathologic fracture, Beaking of ... OMIM:208400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Marshall-Smith Syndrome
Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu... OMIM:602535
Weaver Syndrome
Kyphosis, Scoliosis, Camptodactyly, Limited knee extension, Joint contracture of the hand, Limite... OMIM:277590
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:476126
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Hyperextensibility of the finger joints, Contractures of the large joints ORPHA:521426
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Prominent crus of helix, Kyphosis, Elbow flexion contracture, Knee f... OMIM:619194
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Protrusio acetabuli, Limited elbow movement, Kyphosis, Osteopor... ORPHA:558
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Knee flexion contracture OMIM:619708
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Osteoporosis, Abnormal form of the vertebral bodies, Abnormality of the ... ORPHA:280
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Contractures of the large joints OMIM:617527
Marden-Walker Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the vertebral bodies, Radiou... ORPHA:2461
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Camptodactyly ORPHA:3063
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Joint hypermobility, Delayed closure of the anterior font... OMIM:278250
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Limitation of joint mobility, Metop... ORPHA:457359
Basel-Vanagaite-Smirin-Yosef Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Scoliosis ORPHA:464738
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Elbow dislocation, Kyphosis, Vertebral segmen... ORPHA:1507
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis ORPHA:1393
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Triosephosphate Isomerase Deficiency
Kyphosis OMIM:615512
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis OMIM:619005
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Kyphosis, Scoliosis, Flexion contracture of finger, Abnormality of the... ORPHA:464311
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Autosomal Recessive Spastic Paraplegia Type 35
Ankle clonus, Kyphosis ORPHA:171629
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Joint laxity, Sacral dimple, Craniosynostosis, Hyperlordosis, Kyphosis, Scolio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Joint laxity, Sacral dimple, Craniosynostosis, Hyperlordosis, Kyphosis, Scolio... ORPHA:363958
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Joint hypermobility OMIM:617140
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip dislocation, Genu valgum, Arthr... ORPHA:534
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Multiple joint contractures, Abnormality of the cervical spine, Scoliosis ORPHA:464306
Cowden Syndrome
Kyphosis, Bone cyst, Scoliosis ORPHA:201
Mend Syndrome
Kyphosis, Sacral dimple, Wide anterior fontanel ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phalanx of the thum... OMIM:300967
Cockayne Syndrome B
Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the hand OMIM:133540
Primrose Syndrome
Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Kyphosis, Flexion... OMIM:259050
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Hip dislocation, Abnormal form of the vertebral bodies... OMIM:194190
17Q11 Microdeletion Syndrome
Osteopenia, Kyphosis, Osteoporosis, Osteolysis, Abnormality of the vertebral column, Beaking of v... ORPHA:97685
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Cockayne Syndrome A
Hip contracture, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the phalanges of the ... OMIM:216400
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Scoliosis, Genu varum ORPHA:636
Smith-Lemli-Opitz Syndrome
Short neck, Kyphosis, Hip dislocation, Abnormal form of the vertebral bodies, Scoliosis ORPHA:818
Cockayne Syndrome Type 3
Kyphosis, Flexion contracture, Scoliosis ORPHA:90324
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Kyphosis, Madelung deformity, Neck pterygia, Osteoporosis, Genu valgum, R... ORPHA:99413
Turner Syndrome
Osteopenia, Short neck, Kyphosis, Madelung deformity, Neck pterygia, Osteoporosis, Genu valgum, R... ORPHA:881
Mosaic Monosomy X
Osteopenia, Short neck, Kyphosis, Madelung deformity, Neck pterygia, Osteoporosis, Genu valgum, R... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Kyphosis, Madelung deformity, Neck pterygia, Osteoporosis, Genu valgum, R... ORPHA:99226
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Delayed closure of the anterior fontanelle, Kyphosis, Lu... OMIM:303600
Proteus Syndrome
Craniosynostosis, Joint stiffness, Kyphosis, Hip dislocation, Abnormal form of the vertebral bodi... ORPHA:744
Williams Syndrome
Osteopenia, Joint laxity, Sacral dimple, Increased bone mineral density, Hyperlordosis, Joint sti... ORPHA:904
Acromegaly
Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Osteoarthritis, Joint swelling, Spinal canal stenosis ORPHA:314769
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Joint laxity, Osteomyelitis, Kyphosis, Genu valgum, Abnormal curvature of the vertebra... OMIM:619475
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Kyphosis, Sacral dimple, Osteochondrosis, Scoliosis ORPHA:268261
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v... ORPHA:2273
1P36 Deletion Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Spinal canal stenosis, Scoliosis, Delayed cra... ORPHA:1606
Cockayne Syndrome
Kyphosis, Congenital contracture, Scoliosis, Contractures of the large joints ORPHA:191
Coffin-Siris Syndrome 1
Joint laxity, Sacral dimple, Aplasia/Hypoplasia of the patella, Kyphosis, Scoliosis, Spina bifida... OMIM:135900
Sotos Syndrome
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos... ORPHA:821
Yunis-Varon Syndrome
Wide cranial sutures, Congenital hip dislocation, Absent sternal ossification, Anterior concavity... OMIM:216340
Viss Syndrome
Joint laxity, Recurrent joint dislocation, Joint hypermobility, Kyphosis, Generalized joint laxit... OMIM:619472
Branchiooculofacial Syndrome
Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ear ossicles OMIM:113620
Alström Syndrome
Hyperostosis frontalis interna, Kyphosis, Thoracic scoliosis, Lumbar scoliosis ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Qrfpr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Qrfpr.

No publications found that use IMPC mice or data for Qrfpr.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Qrfprtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Qrfprtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Qrfprtm44906(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Qrfprtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter