Legg-Calvé-Perthes Disease |
|
Joint dislocation, Short stature, Cartilage destruction, Delayed skeletal maturation, Avascular n... |
ORPHA:2380 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Severe short stature, Block vertebrae, Abnormal od... |
OMIM:277300 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,... |
ORPHA:296 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Facial cleft |
OMIM:600776 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Claw hand deformity, Scoliosis, Paralysis |
OMIM:605285 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert... |
ORPHA:1436 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Scoliosis |
ORPHA:640 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Abnormality of the ... |
ORPHA:2345 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Vertebral segmentation defect |
OMIM:618845 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... |
OMIM:122600 |
Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae |
OMIM:309620 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... |
ORPHA:66637 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Joint stiffness, Short neck, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Familial Congenital Mirror Movements |
|
Poor fine motor coordination, Fused cervical vertebrae, Cerebral palsy, Clumsiness |
ORPHA:238722 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... |
ORPHA:1416 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Vocal cord paralysis, Distal arthrogryposis, Neonatal death |
OMIM:616287 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Branchial cyst, Short stature, Short neck, Hemivertebrae, Hip dis... |
OMIM:615583 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Short stature, Elbow contracture, Craniosynostosis, Tarsal syn... |
OMIM:178110 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Keratoconus Posticus Circumscriptus |
|
Growth delay, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion,... |
OMIM:244600 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Cryptorchidism, Hypopituitarism, Midline facial cleft |
OMIM:603671 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Abnormal cartilage morp... |
ORPHA:2347 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scolio... |
OMIM:606612 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft, Anterior encephalocele |
OMIM:601357 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Short stature, Scoliosis, Thoracic hemivertebrae, Spasticity |
ORPHA:1445 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
Anophthalmia Plus Syndrome |
|
Facial cleft, Spina bifida |
ORPHA:1104 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis |
OMIM:613710 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short stature, Short nec... |
OMIM:613686 |
Lethal Congenital Contracture Syndrome 7 |
|
Distal arthrogryposis, Paralysis, Knee flexion contracture |
OMIM:616286 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Rhizomelia, Tracheomalacia, Short neck, Delayed epiphyseal ossi... |
OMIM:156550 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death, Tracheo... |
OMIM:245650 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft, Ethmoidal encephalocele |
OMIM:607597 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Short neck, Delayed skeleta... |
ORPHA:2332 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis, Periodic paralysis |
OMIM:614198 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Lamb-Shaffer Syndrome |
|
Ataxia, Mild postnatal growth retardation, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis... |
ORPHA:530983 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Flexion contracture, Vocal cord paralysis, Hand tremor, Poor fine... |
ORPHA:99947 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the... |
ORPHA:2916 |
Acrofacial Dysostosis, Weyers Type |
|
Facial cleft |
ORPHA:952 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral... |
OMIM:616549 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft |
OMIM:239800 |
Oculomaxillofacial Dysostosis |
|
Facial cleft |
ORPHA:1794 |
Short Stature, Brussels Type |
|
Growth delay, Delayed epiphyseal ossification, Short stature, Calcification of cartilage |
ORPHA:2867 |
Acute Peripheral Arterial Occlusion |
|
Limb pain, Lower limb pain, Paralysis |
ORPHA:90064 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Acrofacial Dysostosis, Catania Type |
|
Intrauterine growth retardation, Spina bifida occulta, Facial cleft, Cryptorchidism |
ORPHA:1786 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis, Frequent falls |
OMIM:607155 |
Frontofacionasal Dysplasia |
|
Encephalocele, Facial cleft |
ORPHA:1791 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Mosaic Trisomy 9 |
|
Spina bifida, Asplenia, Cryptorchidism, Facial cleft, Abnormal liver lobulation, Intrauterine gro... |
ORPHA:99776 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short stature, Short neck, Joint hyperflexibility, Umbi... |
ORPHA:915 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility,... |
OMIM:617333 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi... |
OMIM:618000 |
Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Facial cleft |
ORPHA:1647 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Atelosteogenesis, Type I |
|
Encephalocele, Rhizomelia, Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical ... |
OMIM:108720 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused cervical vertebra... |
ORPHA:268882 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short stature, Cervical kyphosis, Elbow dislocation, Dislocated w... |
OMIM:150250 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Short neck, Kyphosis, Meningocele, Sclerosis of skull base, Scol... |
OMIM:130720 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusi... |
OMIM:617190 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis, Capitate-hamate ... |
OMIM:272460 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Sh... |
OMIM:151200 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short stature |
ORPHA:370010 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Cryptorchidism, Facial cleft, Hypoplasia of the thymus, Thyroid... |
ORPHA:861 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral seg... |
ORPHA:96169 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Short stature, Butterfly vertebrae |
OMIM:619227 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling |
OMIM:612852 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short stature, Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder disl... |
OMIM:171480 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
3Mc Syndrome 3 |
|
Cryptorchidism, Facial cleft |
OMIM:248340 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft, Supernumerary nipple |
ORPHA:1236 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Intrauterine growth retardation, Short stature, Short neck |
OMIM:609053 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Short stature, Kyphosis, Hip dislocatio... |
OMIM:610443 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Paralysis |
OMIM:300857 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Paralysis, Rigidity, Abnormal cartilage morphology, Bone cyst, Osteoly... |
ORPHA:2396 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal bon... |
ORPHA:86822 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Short... |
OMIM:268310 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft, Bilateral cryptor... |
OMIM:613451 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Voc... |
ORPHA:98863 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Short stature, Craniosy... |
OMIM:213980 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Congenital Myopathy 15 |
|
Osteopenia, Vocal cord paralysis, Joint hypermobility, Camptodactyly |
OMIM:620161 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vertebrae, Scoliosis |
OMIM:271520 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Postnatal growth retardation, Hemivertebrae, Spastic tetraplegia... |
OMIM:206900 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Intrauterine growth retardation, Facial cleft |
OMIM:263650 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Elbow ... |
ORPHA:90652 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Spina bifida, Irregular ossification of hand bones, Hemivertebr... |
OMIM:109400 |
Constricting Bands, Congenital |
|
Encephalocele, Facial cleft |
OMIM:217100 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Death in childhood, Tongue fasc... |
OMIM:211530 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:261 |
Mycophenolate Mofetil Embryopathy |
|
Facial cleft |
ORPHA:268249 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Short stature, Flat acetabular roof |
OMIM:617159 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Intrauterine growth retardation, Hemivertebrae, Short neck |
ORPHA:1780 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Multiple Osteochondromas |
|
Neuropathic spinal arthropathy, Abnormality of the knee, Short stature, Limitation of joint mobil... |
ORPHA:321 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Death in infancy, Cerebral palsy, Death in early adulthood, Flex... |
ORPHA:682 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
Myhre Syndrome |
|
Vertebral fusion, Ataxia, Short stature, Joint stiffness, Short neck, Limitation of joint mobilit... |
OMIM:139210 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Periodic paralysis |
ORPHA:757 |
Andersen-Tawil Syndrome |
|
Joint laxity, Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, S... |
ORPHA:37553 |
Kbg Syndrome |
|
Vertebral fusion, Short stature, Short neck, Delayed skeletal maturation, Vertebral arch anomaly,... |
OMIM:148050 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia, Periodic paralysis |
OMIM:267200 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Blepharospasm, Camptodac... |
ORPHA:233 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Short stature, Spina bifida, Short neck, Generalized ... |
ORPHA:508498 |
Japanese Encephalitis |
|
Stiff neck, Weakness due to upper motor neuron dysfunction, Genu recurvatum, Paralysis, Tremor, E... |
ORPHA:79139 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis |
ORPHA:43 |
Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Duane-Radial Ray Syndrome |
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Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
Hypokalemic Periodic Paralysis, Type 2 |
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Periodic paralysis |
OMIM:613345 |
Fanconi Anemia, Complementation Group C |
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Short stature, Flexion contracture, Prolonged G2 phase of cell cycle, Anterior wedging of T12, In... |
OMIM:227645 |
Fraser Syndrome 1 |
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Encephalocele, Cryptorchidism, Myelomeningocele, Facial cleft |
OMIM:219000 |
Aicardi Syndrome |
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Block vertebrae, Hemiplegia/hemiparesis, Hypertonia, Scoliosis, Delayed puberty, Spasticity, Butt... |
ORPHA:50 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
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Hand tremor, Periodic paralysis |
OMIM:609153 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Cranium bifidum occultum, Facial cleft |
ORPHA:306542 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Joint laxity, Short stature, Periodic paralysis, Delayed skeletal maturation, Scoliosis, Periodic... |
OMIM:170390 |
Adult-Onset Still Disease |
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Cartilage destruction, Arthritis, Joint swelling |
ORPHA:829 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
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Vocal cord paralysis, Myoclonus, Scoliosis, Spasticity, Hip subluxation |
ORPHA:500144 |
Acro-Renal-Ocular Syndrome |
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Postnatal growth retardation, Vertebral fusion, Vertebral segmentation defect, Radial club hand |
ORPHA:959 |
Rift Valley Fever |
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Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Simpson-Golabi-Behmel Syndrome |
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Vertebral fusion, Death in infancy, Congenital hip dislocation, Camptodactyly of finger, Short ne... |
ORPHA:373 |
Tick-Borne Encephalitis |
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Speech apraxia, Back pain, Stiff neck, Incoordination, Paralysis, Tremor, Limb pain, Hyperkinetic... |
ORPHA:297 |
Machado-Joseph Disease Type 1 |
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Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276241 |
Aicardi Syndrome |
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Block vertebrae, Spina bifida, Postnatal growth retardation, Hemivertebrae, Scoliosis, Butterfly ... |
OMIM:304050 |
Apert Syndrome |
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Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Vertebral fusion, Hyperextensible hand joints, Proportionate short stature, Camptodactyly |
OMIM:227330 |
Wolf-Hirschhorn Syndrome |
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Vertebral fusion, Sacral dimple, Short stature, Kyphosis, Delayed skeletal maturation, Hip disloc... |
OMIM:194190 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Ataxia, Paralysis, Osteoporosis, Hypertonia, Myoclonus, Tetraparesis, Scoliosis, Tracheomalacia |
OMIM:203700 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... |
OMIM:617137 |
Foodborne Botulism |
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Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Hypokalemic Periodic Paralysis, Type 1 |
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Periodic paralysis |
OMIM:170400 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short neck, Hypoplasia of the odontoid process, Wide anterior fontanel, Atlantoaxial instability,... |
OMIM:271665 |
Thrombocytopenia-Absent Radius Syndrome |
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Death in infancy, Short stature, Spina bifida, Patellar aplasia, Hip dislocation, Fused cervical ... |
OMIM:274000 |
Chops Syndrome |
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Tracheomalacia, Cervical C2/C3 vertebral fusion, Short stature |
OMIM:616368 |
Machado-Joseph Disease Type 3 |
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Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276244 |
Glioblastoma |
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Paralysis |
ORPHA:360 |
Poliomyelitis |
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Stiff neck, Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations |
ORPHA:2912 |
Sacral Agenesis With Vertebral Anomalies |
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Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Distal Renal Tubular Acidosis |
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Short stature, Osteomalacia, Paralysis, Rickets, Bone pain, Increased susceptibility to fractures... |
ORPHA:18 |
Cardiospondylocarpofacial Syndrome |
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Joint laxity, Short stature, Tarsal synostosis, Delayed skeletal maturation, Fused cervical verte... |
OMIM:157800 |
Amyotrophic Lateral Sclerosis |
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Spasticity, Paralysis |
ORPHA:803 |
Keutel Syndrome |
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Short stature, Calcification of cartilage |
ORPHA:85202 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Growth delay, Paralysis |
OMIM:242100 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cryptorchidism, Congenital hepatic fibrosis, Facial cleft |
ORPHA:93271 |
Robinow Syndrome |
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Fused thoracic vertebrae, Short stature, Kyphoscoliosis, Hemivertebrae, Scoliosis, Umbilical hernia |
ORPHA:97360 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Tremor, Periodic paralysis |
OMIM:613239 |
Osteopetrosis, Autosomal Recessive 3 |
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Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Periodic hypokalemic pa... |
OMIM:259730 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Cle... |
ORPHA:83617 |
Hyperkalemic Periodic Paralysis |
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Periodic hyperkalemic paralysis |
OMIM:170500 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Paralysis |
ORPHA:83601 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Paralysis, Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Growth delay, Hypertonia, Sco... |
ORPHA:2072 |
Pseudohypoaldosteronism, Type Iia |
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Periodic hyperkalemic paralysis |
OMIM:145260 |
Gitelman Syndrome |
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Ataxia, Paralysis, Growth delay, Delayed puberty, Chondrocalcinosis |
OMIM:263800 |
Inhalational Botulism |
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Paralysis |
ORPHA:254504 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
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Paralysis |
OMIM:612300 |
Porphyria, Acute Intermittent |
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Respiratory paralysis, Paralysis |
OMIM:176000 |
Holoprosencephaly 1 |
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Facial cleft |
OMIM:236100 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Periodic paralysis |
OMIM:188580 |
Reactive Arthritis |
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Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling |
ORPHA:29207 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Wormian bones, Short stature, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral... |
ORPHA:444077 |
Paramyotonia Congenita Of Von Eulenburg |
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Periodic hypokalemic paresis |
ORPHA:684 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Camptodactyly, Trach... |
OMIM:613458 |
Schinzel-Giedion Syndrome |
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Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Wide anterior fontanel, Vocal cord paralysis... |
ORPHA:798 |
Heterotaxy, Visceral, 1, X-Linked |
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Absence of the sacrum, Myelomeningocele, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Thyrotoxic Periodic Paralysis |
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Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis |
ORPHA:79102 |
Tracheobronchopathia Osteochondroplastica |
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Calcification of cartilage |
ORPHA:3348 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Abnormal calcifi... |
ORPHA:51608 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle, Short stature |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle, Short stature |
OMIM:227650 |
Gitelman Syndrome |
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Chondrocalcinosis, Delayed puberty, Gout, Paralysis |
ORPHA:358 |
Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle, Short stature |
OMIM:227646 |
African Trypanosomiasis |
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Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Tremor, Myelopath... |
ORPHA:3385 |
Tyrosinemia, Type I |
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Hypophosphatemic rickets, Growth delay, Periodic paralysis |
OMIM:276700 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Tsh-Secreting Pituitary Adenoma |
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Osteopenia, Tremor, Osteoporosis, Delayed puberty, Periodic hypokalemic paresis |
ORPHA:91347 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Hemivertebrae, Genu valgum, Branchial anomaly, Scoliosi... |
OMIM:164210 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |