| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
| Sirenomelia |
|
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Myelomeningocele, Abnormal sacrum ... |
ORPHA:1756 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormal rib morpho... |
ORPHA:2345 |
| Primary Basilar Invagination |
|
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... |
OMIM:609223 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Pes cavus, Scoliosis |
OMIM:611225 |
| Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida |
ORPHA:64754 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Renal Agenesis, Bilateral |
|
Abnormal sacrum morphology, Sirenomelia |
ORPHA:1848 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Pes planus, Hip contracture, Hyperlordosis, Kyphosis, Knee flexion contracture, Talipes equinovar... |
OMIM:600175 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Coxa valga, Vertebral wedging, Platyspondyly, Internal tibial torsion, Beaking of... |
OMIM:616583 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Pes cavus, Talipes equinovarus, Scoliosis |
OMIM:617087 |
| Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
| Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq... |
OMIM:271630 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Pes cavus, Kyphoscoliosis |
OMIM:271200 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Scoliosis |
ORPHA:640 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
| Ichthyosis--Cheek--Eyebrow Syndrome |
|
Pes planus, Kyphoscoliosis |
OMIM:146720 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Abnormal ossification involving the f... |
ORPHA:2114 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation |
ORPHA:85288 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Lateral femoral bowing, Horizontal sacrum, Fibular bowing, Scol... |
OMIM:112350 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Long foot, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Pes cavus, Scoliosis |
ORPHA:101075 |
| Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:616471 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
| Anophthalmia Plus Syndrome |
|
Cleft palate, Vertebral segmentation defect, Spina bifida, Bilateral cleft lip and palate |
ORPHA:1104 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb |
OMIM:303350 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Pes cavus, Scoliosis |
ORPHA:101078 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Lower limb asymmetry, Abnormal fibula morphology, Genu valgum, Vertebral segmenta... |
ORPHA:85198 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Mye... |
OMIM:182940 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Pes planus, Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Decreased pate... |
OMIM:615290 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae,... |
OMIM:230650 |
| Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Syringo... |
OMIM:207950 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Cleft palate, Ectopic anus, Anencephaly, Spina bifida |
ORPHA:2476 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Scoliosis, Paralysis |
OMIM:605285 |
| Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Vertebral wedging, Cox... |
OMIM:259450 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Renal hypoplasia, Spinal dysra... |
OMIM:617660 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Sacral dimple, Spina bifida, Abnormal form of the vertebral bodies, High palate, Intrauterine gro... |
ORPHA:1327 |
| Variegate Porphyria |
|
Paralysis, Porphyrinuria, Increased urinary porphobilinogen, Increased fecal protoporphyrin conce... |
OMIM:176200 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
| Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Neurogenic bladder, Absence of the sacrum, Hemisacrum, Tethered cord, My... |
OMIM:600145 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
| Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula... |
ORPHA:2437 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni... |
ORPHA:93929 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
| Myasthenic Syndrome, Congenital, 16 |
|
High palate, Periodic paralysis, Hyperlordosis |
OMIM:614198 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Large hands, Scoliosis, Tapered finger |
ORPHA:276630 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis |
OMIM:616756 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Neonatal death |
OMIM:618393 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Equinovarus deformity, Abnormal toe morpholog... |
ORPHA:79500 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Scoliosis |
ORPHA:3454 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Abnormal t... |
ORPHA:573278 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Spina bifida, Hydrocephalus, Prominent prot... |
ORPHA:2839 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Anisospondyly, Caudal appendage, Hypoplasia ... |
OMIM:156530 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical... |
OMIM:618469 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Lower limb asymmetry, Metatarsus valgus, Kyphosis... |
ORPHA:744 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
| Fountain Syndrome |
|
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:3219 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia of the capital femor... |
OMIM:313400 |
| Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Spina bifida, Meningocele, Cleft palate, Scoliosis |
ORPHA:894 |
| Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Cleft palate, Multiple renal cysts, Absent or minimal... |
ORPHA:66637 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, Anencephaly, Hydro... |
ORPHA:63259 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Metaphyseal dysplasia, Kyphos... |
OMIM:613330 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Posterior ri... |
ORPHA:1393 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Arachnodactyly, Scoliosis |
ORPHA:1548 |
| Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis, Elevated urinary delta-aminolevulinic acid |
OMIM:612740 |
| Diabetic Embryopathy |
|
Ureteral duplication, Abnormal sacrum morphology, Hydrocephalus, Cleft palate, Spinal dysraphism,... |
ORPHA:1926 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Abs... |
OMIM:618658 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Hemi... |
ORPHA:3412 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Kyphosis, Hand clenching, Areflexia of lower limbs, Talipes equin... |
OMIM:611890 |
| Trisomy 20P |
|
Incoordination, Hypospadias, Spina bifida, Short neck, Kyphosis, Abnormality of the ureter, Abnor... |
ORPHA:261318 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Brachydactyly, Scoliosis, Short distal phalanx of finger |
ORPHA:1858 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology, Spina bifida |
ORPHA:1120 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Spina bif... |
OMIM:184400 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd... |
OMIM:234250 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis |
ORPHA:505652 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Short meta... |
ORPHA:93314 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Increased laxity of fingers, Spinal rigidity, Short neck, Kyphosis, Hip dislocation, Kn... |
ORPHA:75840 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Irregular femoral epiphysis, Kyphoscoliosis, Genu valgum |
OMIM:255710 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Pes cavus, Scoliosis |
ORPHA:99014 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kypho... |
ORPHA:3098 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis |
OMIM:620007 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Scoliosis, Umbilical hernia, Adducted thumb |
ORPHA:2181 |
| Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid ... |
OMIM:607326 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Short lower limbs, Scoliosis |
OMIM:259440 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Cleft palate, Spina bifida |
ORPHA:957 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hamartomatous stomach polyps, Hemi... |
OMIM:109400 |
| Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Spina bifida, Short neck, Hemivertebrae, Horseshoe k... |
ORPHA:99776 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Pes planus, Contracture of the proximal interphalangeal joint of the 2nd finger, K... |
OMIM:130060 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dysphagia |
OMIM:300857 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida, Short neck, Cleft palate, High palate, Scoliosis, Intrauterine growth retardation |
OMIM:616038 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Hydrocephalus, Babinski sign, Vocal cord paralysis, Abnormal spinal cord morphol... |
ORPHA:99947 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot, Scoliosis, Shor... |
OMIM:180870 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Bilateral talipes equinovarus, Talipes equinovarus, Scoliosis, Flexion ... |
OMIM:618484 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
| Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis |
ORPHA:2771 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Camptodactyly of 2nd-5th finger... |
OMIM:609128 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Areflexia of lower limbs, Scoliosis, Pes cavus |
OMIM:618124 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Flat capital femoral epiphysis, Kyphosis, Short neck, Genu valgum, Scoliosis |
OMIM:252605 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis |
OMIM:618237 |
| Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Spina bifi... |
OMIM:161200 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Pes cavus, Scoliosis |
OMIM:610743 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... |
OMIM:184252 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Lower limb asymmetry, Hyperlordosis, Kyphosis, ... |
OMIM:615761 |
| Pseudoachondroplasia |
|
Genu recurvatum, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Lum... |
OMIM:177170 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
| Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Knee flexion contracture, Flexion contracture of... |
OMIM:619040 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli... |
OMIM:603546 |
| Progressive Pseudorheumatoid Dysplasia |
|
Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enlarged metacarpophala... |
OMIM:208230 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Clinodactyly, Scoliosis, Short neck |
ORPHA:178148 |
| Isolated Posterior Meningocele |
|
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Meningocele, Lipomyelomeningocele, Parapleg... |
ORPHA:268810 |
| Ck Syndrome |
|
Kyphosis, Abnormal digit morphology, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Oral-pharyngeal dysphagia |
OMIM:616286 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Missing ribs, Diastomatomyelia, Meningocele, Duodenal stenosis |
ORPHA:1759 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Sacral dimple, Spina bifida, Short neck, High, narrow palate, Hydrocephalus, Ankle clonus, High p... |
OMIM:613776 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Short neck,... |
ORPHA:2311 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Supernumerary ribs, Spina bifida, Supernumerary vertebrae |
OMIM:193500 |
| Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Cl... |
ORPHA:137834 |
| Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida oc... |
ORPHA:64755 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pes planus, Foot joint contracture, Kyphoscoliosis, Hyperlordosis, Tapered finger, Kyphosis, Ankl... |
ORPHA:536516 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Hypospadias, Spina bifida, Ectopic kidney, Esophageal atr... |
OMIM:192350 |
| Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Hiatus hernia, Missing ribs, Hemivertebrae, Rib fusion, Cleft pala... |
OMIM:304050 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Ankle clonus, Short foot, Scoliosis |
OMIM:617435 |
| Amish Lethal Microcephaly |
|
Organic aciduria, Cleft soft palate, Spina bifida, Limb hypertonia |
ORPHA:99742 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
| Baralle-Macken Syndrome |
|
Pes planus, Kyphosis, Tapered finger |
OMIM:619255 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis, Pes cavus |
OMIM:255200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Long foot, Scoliosis |
OMIM:300676 |
| Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Hemiparesis, Scoliosis, Spina bifida |
ORPHA:2874 |
| Diastrophic Dysplasia |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Proximal placement of thumb, Kypho... |
ORPHA:628 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Short metatarsal, Femoral bowing, Tibial bowing, Thoracic kypho... |
OMIM:223800 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Abnormal metatarsal morphology, Hip subluxation, Kyphosis, Flat capital femoral e... |
ORPHA:93360 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle weakness, Peroneal muscle atrophy, Hyperlordosis, Kyphosis, Metatarsus adductus, ... |
OMIM:181405 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Kyphosis,... |
OMIM:618291 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte... |
ORPHA:2916 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Abnormality of the cervical spine, Camptodactyly of finger, Scoliosis |
ORPHA:48431 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
| Trisomy 18 |
|
Spina bifida, Esophageal atresia, Anencephaly, Abnormal rib morphology, Cleft palate, Narrow pala... |
ORPHA:3380 |
| Arnold-Chiari Malformation Type I |
|
Urinary incontinence, Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervica... |
ORPHA:268882 |
| Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism, Holopros... |
ORPHA:1908 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Short neck, Spinal r... |
ORPHA:94068 |
| Clark-Baraitser syndrome |
|
Genu recurvatum, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Calf muscle hypertrophy, Kyphosis |
OMIM:618138 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Absent Achilles reflex, Ankle clonus, Scoliosis, Pes cavus |
OMIM:609541 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Short neck, Missing ribs, Pyl... |
ORPHA:2308 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... |
OMIM:619797 |
| Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... |
ORPHA:2369 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Broad foot, Brachydactyly |
ORPHA:3085 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:2617 |
| Lumbar Syndrome |
|
Hypospadias, Spina bifida, Myelomeningocele, Ectopic anus, Vesicoureteral reflux, Micropenis, Bla... |
ORPHA:83628 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Renal hypoplasia, Scoliosis, Spinal dysraphism |
OMIM:612918 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... |
OMIM:606612 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Ankle clonus, Kyphosis, Pes cavus, Scoliosis |
OMIM:614409 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... |
OMIM:607155 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Clinodactyly of the 5th finger, Umbilical hernia, Kyphosis, Scoliosis |
OMIM:615834 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Sacral dimple, Kyphosis |
OMIM:618272 |
| Sillence Syndrome |
|
Back pain, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbous tips ... |
ORPHA:3168 |
| Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp... |
ORPHA:15 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... |
OMIM:618019 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Spina bifida, Horseshoe kidney, Gastroesophageal reflux, Short ribs... |
ORPHA:2092 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Abnormal foot morphology, Joint contracture of the 5th finger, Scoliosis, Umbilical hernia |
ORPHA:352490 |
| Neu-Laxova Syndrome |
|
Spina bifida, Submucous cleft hard palate, Cleft palate, Opisthotonus, Scoliosis, Intrauterine gr... |
ORPHA:2671 |
| Sialidosis Type 2 |
|
Umbilical hernia, Kyphosis, Pedal edema |
ORPHA:87876 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Short foot, Abnormal diaphysis mor... |
ORPHA:3409 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Hyperlordosis, High, narrow palate, Narrow palate, Thin ribs, Choreoathetosis, High... |
OMIM:234100 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F... |
ORPHA:175 |
| Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Kyphoscoliosis, Vertebral wedging, Coxa vara, Biconcave vertebral bodies, Sc... |
OMIM:610968 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Kyphosis, Talipes equinovarus, Scolios... |
OMIM:300280 |
| Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralysis, Paralytic ileus, Urinary retention, Respiratory paralys... |
OMIM:176000 |
| Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Spina bi... |
ORPHA:508498 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, S... |
ORPHA:3121 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
| Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Kyphosis, Absent phalangeal crease, Bilateral talipes equinovarus, Scoliosis, Con... |
OMIM:108145 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Femoral retroversion, Scoliosis, Micromelia |
ORPHA:79107 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Hypospadias, Cervical k... |
OMIM:114290 |
| Ulnar Hemimelia |
|
Butterfly vertebrae, Scoliosis, Spinal dysraphism |
ORPHA:93320 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Structural foot deformity, Kyphosis, Hip dislo... |
ORPHA:464282 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
| Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Genu valgum, Short neck |
ORPHA:2983 |
| Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Coxa valga, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253010 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, Brachydactyly |
ORPHA:93274 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis |
OMIM:609008 |
| Crisponi Syndrome |
|
Kyphosis, Camptodactyly of finger, Scoliosis |
ORPHA:1545 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Neurogenic bladder, Facial-lingual fasciculations, Babins... |
ORPHA:276244 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Tibial bowing, Scoliosis, Biconcave vertebral bodies |
OMIM:259420 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
| Foodborne Botulism |
|
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Xerostomia, Urinary retention, Dysphagia |
ORPHA:228371 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Absent thumb, Abnormality of the humerus, Kyphosis, Split hand, Aplasia/Hypopl... |
ORPHA:392 |
| Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Short 4th metacarpal, Polydactyly, Short 3rd metacarpal, Umbili... |
OMIM:169400 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... |
ORPHA:2062 |
| Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Short neck, Chorea,... |
ORPHA:2162 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal canal stenosis,... |
ORPHA:582 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Short foot, Scoliosis, Camptodactyly, C... |
OMIM:615547 |
| Machado-Joseph Disease Type 1 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276241 |
| Stickler Syndrome, Type I |
|
Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Platyspondyly, Morbus Scheuermann, Scolios... |
OMIM:108300 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Abnormal metaphysis mo... |
ORPHA:2655 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck |
ORPHA:3191 |
| Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Aganglionic megacolon, Spina bifida, Abnormal prep... |
ORPHA:84 |
| Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
| Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Coxa valga, Kyphosis, Short metatarsal, Scoliosis |
OMIM:248800 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon, Spina bifida, Intestinal malrota... |
ORPHA:567 |
| Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Femoral bowing present at birth, straightening with time, Biconcave flattened vertebrae... |
OMIM:166220 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Spina bifida, Horseshoe kidney, Cleft palate, Fused cervical vertebrae, Syr... |
OMIM:274000 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Tethered cord, Spina bifida, Gastroesophageal reflux, Scoliosis, Bifid uvula |
OMIM:619480 |
| Alpha-Mannosidosis |
|
Kyphosis, Bowing of the long bones, Scoliosis, Short neck |
ORPHA:61 |
| Cono-Spondylar Dysplasia |
|
Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
| Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia |
ORPHA:230800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Pes planus, Sandal gap, Kyphosis, Small hand, Short foot, Pes cavus, Brachydactyly |
OMIM:300354 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Short neck, Kyphosis, Split hand, Hemivertebrae, Hypop... |
ORPHA:958 |
| Snakebite Envenomation |
|
Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney i... |
ORPHA:449285 |
| Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis... |
ORPHA:1860 |
| Basilar Impression, Primary |
|
Abnormal cervical myelogram, Kyphoscoliosis, Short neck |
OMIM:109500 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Kyphosis, Hip dislocation, Vertebral segmentation defect, Short... |
ORPHA:1005 |
| Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
| Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Talipes equino... |
OMIM:314580 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles... |
OMIM:301041 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hyperlordosis... |
ORPHA:2616 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Hip dislocation, Increased laxity of ankles, Talipes equinovarus, Scol... |
OMIM:254090 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Hip dislocation, Genu valgum, Scoliosis, Ge... |
ORPHA:171436 |
| Atypical Rett Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:3095 |
| Cole-Carpenter Syndrome |
|
Bowing of the long bones, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal me... |
ORPHA:2050 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Myelomeningocele, Abnormal toe ... |
ORPHA:94065 |
| X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... |
ORPHA:43 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Absent Achilles reflex, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Sacral dimple, Hypospadias, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Sacral dimple, Hypospadias, Spina bifida, Hyperlordosis, Kyphosis, Hydrocephalus,... |
ORPHA:363958 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Ataxia, Kyphosis, Vocal cord paralysis, Truncal ataxia, Clumsiness, Ankle clonus,... |
OMIM:211530 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Pes planus, Kyphosis, Scoliosis |
OMIM:617143 |
| Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Meningocele, Abnormal rib morphology |
ORPHA:991 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Vocal cord paralysis, Gastroesophageal reflux, Myoclonus, Scoliosis, Dysphagi... |
ORPHA:500144 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Abnormal metaphysis morphology |
ORPHA:583 |
| Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Hypo... |
ORPHA:98855 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Scoliosis |
OMIM:162200 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Xerostomia, Spasticity |
ORPHA:803 |
| Flynn-Aird Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2047 |
| Postaxial Acrofacial Dysostosis |
|
Pyloric stenosis, Midgut malrotation, Cleft palate, Supernumerary vertebrae, Micropenis |
OMIM:263750 |
| Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibial bowing, P... |
OMIM:610915 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Talipes, Spinal rigidity, Kyphosis, Achilles tendon contract... |
OMIM:620351 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Achilles tendon contracture, Sco... |
ORPHA:98863 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... |
OMIM:253220 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Hip dislocation, Short neck |
OMIM:608776 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Anal stenosis, Urinary incontinen... |
ORPHA:322 |
| Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma |
ORPHA:324737 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Palmoplantar cutis laxa, Femoral bowing, Tibial bowin... |
OMIM:616482 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly |
ORPHA:261222 |
| Sialidosis Type 1 |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:812 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... |
OMIM:618443 |
| Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Meningocele, Abnormal form of the vertebral bodies, Scoliosi... |
ORPHA:2789 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
| Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Abnormal me... |
ORPHA:1798 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Prox... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Prox... |
ORPHA:98853 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short neck, Kyphosis, Hip dislocati... |
ORPHA:140 |
| Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly |
OMIM:258850 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Talipes calcaneovalgus, Knee flexion contracture, Camptodactyly of toe, Dislocated ra... |
OMIM:265000 |
| Rubinstein-Taybi Syndrome 1 |
|
Incoordination, Hypospadias, Spina bifida, High, narrow palate, Poor coordination, Cleft palate, ... |
OMIM:180849 |
| Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Kyphosis... |
OMIM:607015 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies |
OMIM:230500 |
| Inhalational Botulism |
|
Xerostomia, Urinary retention, Paralysis |
ORPHA:254504 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Short metacarpal, Scoliosis |
OMIM:617190 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Kyphosis, Small hand, Short foot... |
ORPHA:85293 |
| Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... |
ORPHA:37553 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Short neck, Kyphosis, Deep plantar creases, Scol... |
ORPHA:254346 |
| Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Prominent fingertip pads, Large hands, Flared ... |
OMIM:277590 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Lower limb asymmetry, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydac... |
ORPHA:404440 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Limitation of knee mobility... |
OMIM:203500 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Thoracolumbar kyphosis, Short phalanx of finger, Abnormality of t... |
ORPHA:508533 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Kyphosis, 3-4 finger cuta... |
OMIM:619951 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Diaphyseal sclerosis, Platyspondyly, Er... |
OMIM:618476 |
| Harrod Syndrome |
|
Kyphosis, Arachnodactyly, Scoliosis |
ORPHA:2115 |
| Rift Valley Fever |
|
Back pain, Paralysis, Hematemesis, Paraparesis, Hematuria, Melena, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Spina bifida, Short neck, Kyphoscoliosis, Hydrocephalus, Cleft palate, Platyspondyly... |
OMIM:304120 |
| Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... |
ORPHA:79139 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral endplates, Knee dislocation, Shor... |
OMIM:143095 |
| Rett Syndrome |
|
Short foot, Kyphosis, Scoliosis |
OMIM:312750 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Pes cavus, Scoliosis |
ORPHA:88644 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Talipes equinovarus, Scoliosis, Camp... |
OMIM:248700 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly of the 5th fing... |
OMIM:617061 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav... |
OMIM:259770 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly |
ORPHA:2075 |
| Poliomyelitis |
|
Paralysis, Paraparesis, Paralytic ileus, Hyperkinetic movements, Fasciculations, Dysphagia, Myelitis |
ORPHA:2912 |
| Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis |
OMIM:267200 |
| Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis |
ORPHA:702 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspo... |
ORPHA:354 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pes planus, Kyphosis, Genu recurvatum, Scoliosis |
ORPHA:364028 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Horseshoe kidney, High palate, Gastroesophageal reflux, Six lumbar vertebrae |
ORPHA:65286 |
| Pycnodysostosis |
|
Brachydactyly, Rhizomelia, Hyperlordosis, Lower limb asymmetry, Kyphosis, Small hand, Short foot,... |
ORPHA:763 |
| 3C Syndrome |
|
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Brachydactyly |
ORPHA:7 |
| Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasc... |
ORPHA:297 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Meningocele, Scoliosis, Umbilical hernia, Biconcave verte... |
OMIM:130720 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
| Coffin-Lowry Syndrome |
|
Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ... |
ORPHA:192 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
| Jaberi-Elahi Syndrome |
|
Hand clenching, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:617988 |
| Neu-Laxova Syndrome 1 |
|
Spina bifida, Short neck, Cleft palate, Short umbilical cord, Small placenta, Hydranencephaly, In... |
OMIM:256520 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Ectrodactyly, Scoliosis |
ORPHA:3378 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Pes planus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphosc... |
ORPHA:536532 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Paralysis |
OMIM:612300 |
| Hurler Syndrome |
|
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... |
OMIM:607014 |
| Megalocornea-Intellectual Disability Syndrome |
|
Tapered finger, Kyphosis, Scoliosis, Metatarsus valgus, Genu varum |
ORPHA:2479 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasi... |
ORPHA:476126 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Talipes equinovarus, Scolios... |
OMIM:301040 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... |
ORPHA:2215 |
| Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Vertebral segmentation defect, Scoli... |
ORPHA:96169 |
| Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Odynophagia, Abnormality of the cervical spine, Oral-pharyngeal dysphagia |
ORPHA:221098 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Clinodactyly of t... |
ORPHA:568 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Large placenta, Abnormality of the costochondra... |
ORPHA:96334 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, S... |
ORPHA:2911 |
| Glioblastoma |
|
Paralysis |
ORPHA:360 |
| Fucosidosis |
|
Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
| Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Genu valgum, Finger joint hypermobility, Scoliosis |
OMIM:618493 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Aciduria, Paralysis, Hypertonia, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Scol... |
OMIM:203700 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Bifid femur, Aplasia/hypoplasia of the femur, Sc... |
ORPHA:2769 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5... |
OMIM:617602 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Dysphagia |
OMIM:150260 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Finger syndactyly, Scoliosis, Genu varum |
ORPHA:1969 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Kyphoscoliosis, Tremor, Vocal cord paralysis, Poor fine motor coordination, Scoli... |
ORPHA:99956 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Cleft palate, High palate, Scoliosis, Periodic hypokalemic paresis |
OMIM:170390 |
| Emanuel Syndrome |
|
Kyphosis, Sacral dimple, Congenital hip dislocation, Scoliosis |
OMIM:609029 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Paralysis, Oculomotor apraxia, Spastic paraplegia, Esophageal varix, Hydrocephalus, Limb ataxia, ... |
ORPHA:2072 |
| Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Brachydactyly, Camptodactyly |
OMIM:619123 |
| Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615108 |
| Cockayne Syndrome Type 2 |
|
Kyphosis, Scoliosis |
ORPHA:90322 |
| Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
| Gitelman Syndrome |
|
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Nocturia, Renal po... |
OMIM:263800 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Abnormally ossified vertebrae, Hyperlordosis, Scoliosis, Umbil... |
ORPHA:800 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Camurati-Engelmann Disease |
|
Pes planus, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna... |
ORPHA:1328 |
| Rett Syndrome, Congenital Variant |
|
Pes planus, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
| 2P15P16.1 Microdeletion Syndrome |
|
Pes planus, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, P... |
ORPHA:261349 |
| Noonan Syndrome 14 |
|
Pes planus, Short neck, Kyphosis, Pes valgus, Clinodactyly |
OMIM:619745 |
| Mucopolysaccharidosis, Type Ii |
|
Short neck, Kyphosis, Split hand, Umbilical hernia, Pes cavus |
OMIM:309900 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
| Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture, Pedal edema |
ORPHA:77259 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Sc... |
ORPHA:464738 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Dysphagia |
ORPHA:684 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger |
OMIM:609944 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Bowing of the long bones, Short humerus, Lateral femoral bowing |
OMIM:239000 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, 2-3 toe syndactyly, Scoliosis |
OMIM:616449 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Scoliosis, Pes cavus, Proximal femoral epiphysiolysis |
OMIM:162300 |
| Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:615109 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Positional foot deformity, Hip dislocation, Scoliosis,... |
OMIM:610443 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... |
ORPHA:18 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Slender toe, Genu valgum... |
ORPHA:193 |
| Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Metatarsus ad... |
OMIM:249420 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Bowing of the legs, Kyphosis, Platyspondyly, Limb undergrowth, Short dista... |
ORPHA:1855 |
| Distal Triplication 15Q |
|
Kyphosis, Arachnodactyly, Scoliosis, Camptodactyly |
ORPHA:314588 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap... |
ORPHA:1507 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Mesomelia, Clinodactyly, Short phalan... |
OMIM:616894 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Pes planus, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Long fingers, Pes ... |
OMIM:616914 |
| Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Paralysis, Tetraplegia, Respiratory paralysis, Urinary reten... |
ORPHA:79102 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Pes planus, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis, Long foot |
OMIM:617011 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations |
ORPHA:682 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:500055 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Kyphosi... |
ORPHA:521426 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scolio... |
OMIM:618050 |
| 16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Proximal placement of thumb, Scoliosis |
ORPHA:261250 |
| Schinzel-Giedion Syndrome |
|
Short neck, Vocal cord paralysis, Renal cyst, Anteriorly placed anus, Hypertonia, High palate, He... |
ORPHA:798 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
| Alstrom Syndrome |
|
Pes planus, Kyphosis, Scoliosis |
OMIM:203800 |
| Micro Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent protruding coccyx, Prom... |
OMIM:300966 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, ... |
ORPHA:3042 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
| Monosomy 9Q22.3 |
|
Short neck, Kyphosis, Plantar pits, Abnormality of the vertebral column, Polydactyly, Umbilical h... |
ORPHA:77301 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Cowden Syndrome 1 |
|
Kyphosis, Scoliosis, Palmoplantar hyperkeratosis |
OMIM:158350 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Renal insufficiency, Periodic paralysis, Nephrocalcinosis, Paralytic... |
OMIM:276700 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Palmoplantar hyperhidrosis |
OMIM:617527 |
| Marshall-Smith Syndrome |
|
Hallux valgus, Thoracic scoliosis, Kyphoscoliosis, Bullet-shaped middle phalanges of the hand, Hy... |
OMIM:602535 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
| Prader-Willi Syndrome |
|
Syndactyly, Kyphosis, Acromicria, Small hand, Genu valgum, Short foot, Scoliosis, Short palm, Rad... |
OMIM:176270 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Overlapping fingers, Bilateral talipes equinovarus, Knee flexion contracture |
OMIM:619708 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Abnormal foot morphology, Spl... |
ORPHA:280 |
| Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Short neck, Hypopl... |
ORPHA:955 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Vertebral segmentation defect, Hepatoblastoma, Exaggerated median tongue furrow, Hypo... |
OMIM:312870 |
| Occipital Horn Syndrome |
|
Pes planus, Aplasia/hypoplasia of the humerus, Coxa valga, Kyphosis, Avascular necrosis of the ca... |
ORPHA:198 |
| Cleidocranial Dysplasia 1 |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Kyphosis, Hip dislocation, Coxa vara, Cone... |
OMIM:119600 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Knee flexion contracture... |
OMIM:619194 |
| Atelis Syndrome 2 |
|
Pes planus, Kyphosis, Sacral dimple, Clinodactyly |
OMIM:620185 |
| Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Talipes, Camptodactyly of finger, Metatarsus adductus, Kyphosis, Abnormal form of... |
ORPHA:2461 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Structural foot deformity, Kyphosis, Polydactyly, ... |
ORPHA:464306 |
| Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Hand po... |
ORPHA:401973 |
| Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac... |
OMIM:300960 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Increased femoral anteversion, Scoliosis |
OMIM:619005 |
| Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co... |
ORPHA:464311 |
| Mgat2-Cdg |
|
Kyphosis, Scoliosis, Brachydactyly |
ORPHA:79329 |
| Occipital Horn Syndrome |
|
Pes planus, Short humerus, Coxa valga, Kyphosis, Capitate-hamate fusion, Genu valgum, Platyspondy... |
OMIM:304150 |
| Alexander Disease |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:58 |
| Classic Homocystinuria |
|
Kyphosis, Arachnodactyly, Scoliosis, Genu valgum |
ORPHA:394 |
| Osteogenesis Imperfecta |
|
Bowing of the long bones, Rhizomelia, Cervical kyphosis, Micromelia, Diaphyseal thickening, Protr... |
ORPHA:666 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:398069 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ... |
ORPHA:818 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Ankle clonus, Kyphosis, Positional foot deformity |
ORPHA:171629 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Tubulointerstitial nep... |
ORPHA:358 |
| African Trypanosomiasis |
|
Renal insufficiency, Abnormal central motor function, Involuntary movements, Urinary incontinence... |
ORPHA:3385 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Long foot |
ORPHA:457359 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Kyphosis, Abnormal metacarpal morphology, Abnormal finger morphology, Symphala... |
ORPHA:2658 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Triphalangeal thumb, Contracture of the proximal interphalangeal ... |
ORPHA:2232 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Kyphoscoliosis, Kyphosis, Slender toe, Camptodactyly |
ORPHA:3063 |
| Ramon Syndrome |
|
Kyphosis, Scoliosis |
OMIM:266270 |
| Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis |
OMIM:212065 |
| Mucolipidosis Type Ii |
|
Hip contracture, Kyphosis, Hip dislocation, Knee flexion contracture, Talipes equinovarus, Umbili... |
ORPHA:576 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
| Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Kyphosis, Hip dislocation, Spinal canal stenosis, Abnormal f... |
ORPHA:828 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Tarsal synostosis |
ORPHA:85199 |
| Aspartylglucosaminuria |
|
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis |
OMIM:208400 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Short hallux, Metatarsus add... |
OMIM:194190 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis |
OMIM:619482 |
| Marfan Syndrome |
|
Pes planus, Arachnodactyly, Protrusio acetabuli, Kyphosis, Meningocele, Scoliosis, Spondylolisthesis |
ORPHA:558 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phalan... |
OMIM:300967 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Abnormal foot mo... |
ORPHA:268261 |
| Williams-Beuren Syndrome |
|
Rectal prolapse, Vocal cord paralysis, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral ... |
OMIM:194050 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Pes planus, Tapered finger, Coxa valga... |
OMIM:303600 |
| Zttk Syndrome |
|
Kyphosis, Hemivertebrae, Small hand, Short foot, Scoliosis |
OMIM:617140 |
| Acromegaly |
|
Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Deep plantar creases, Large hands,... |
ORPHA:963 |
| Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Kyphosis, Spinal canal stenosis, Deep plantar creases, Large hands,... |
ORPHA:314769 |
| Wrinkly Skin Syndrome |
|
Pes planus, Congenital hip dislocation, Kyphosis, Coxa vara, Deep plantar creases, Talipes equino... |
OMIM:278250 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Kyphosis, Hip dislocation, Genu valgum, Finger swelling, Platyspondyly, ... |
OMIM:309000 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, Patellar dislocation, Scoliosis, Umbilical... |
ORPHA:534 |
| Coffin-Siris Syndrome 1 |
|
Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the distal ph... |
OMIM:135900 |
| Cowden Syndrome |
|
Kyphosis, Palmoplantar keratoderma, Scoliosis, Brachydactyly |
ORPHA:201 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Kyphosis, Abnormal curvature of the vertebral column, Genu valgum, Talipes equinovarus... |
OMIM:619475 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Periodic hypokalemic paresis |
OMIM:259730 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Ectrodacty... |
ORPHA:2273 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Lower limb asymmetry, Kyphosis, Spinal canal stenosis, Short foot, Foot ... |
ORPHA:1606 |
| Cockayne Syndrome Type 3 |
|
Kyphosis, Scoliosis |
ORPHA:90324 |
| Cockayne Syndrome A |
|
Hip contracture, Kyphosis, Ivory epiphyses of the phalanges of the hand |
OMIM:216400 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Pes planus, Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the dist... |
ORPHA:99413 |
| Turner Syndrome |
|
Pes planus, Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the dist... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Pes planus, Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the dist... |
ORPHA:99228 |
| Monosomy X |
|
Pes planus, Hypermobility of toe joints, Short neck, Kyphosis, Short toe, Enlargement of the dist... |
ORPHA:99226 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Cockayne Syndrome B |
|
Kyphosis, Ivory epiphyses of the phalanges of the hand |
OMIM:133540 |
| Neurofibromatosis Type 1 |
|
Kyphosis, Genu valgum, Scoliosis, Genu varum |
ORPHA:636 |
| 17Q11 Microdeletion Syndrome |
|
Bowing of the legs, Kyphosis, Diaphyseal dysplasia, Large hands, Abnormality of the vertebral col... |
ORPHA:97685 |
| Williams Syndrome |
|
Hallux valgus, Pes planus, Sacral dimple, Hyperlordosis, Kyphosis, Abnormal form of the vertebral... |
ORPHA:904 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Palmoplan... |
OMIM:216340 |
| Cockayne Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:191 |
| Tetrasomy 9P |
|
Umbilical hernia, Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:3310 |
| Sotos Syndrome |
|
Sacrococcygeal teratoma, Pes planus, Hip contracture, Ankle flexion contracture, Kyphosis, Bilate... |
ORPHA:821 |
| Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology |
ORPHA:68 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly... |
OMIM:113620 |
| Viss Syndrome |
|
Long toe, Pes planus, Arachnodactyly, Rocker bottom foot, Kyphosis, Hip dislocation, Genu valgum,... |
OMIM:619472 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis |
ORPHA:91347 |
| Primrose Syndrome |
|
Hip contracture, Metatarsus adductus, Kyphosis, Knee flexion contracture, Genu valgum, Irregular ... |
OMIM:259050 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Alström Syndrome |
|
Pes planus, Thoracic scoliosis, Kyphosis, Short toe, Lumbar scoliosis, Short finger |
ORPHA:64 |
