Genochondromatosis Type 1 |
|
Abnormality of the knee, Multiple enchondromatosis |
ORPHA:85197 |
Calcification Of Joints And Arteries |
|
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi... |
OMIM:211800 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Osteochondrosis Of The Tarsal Bone |
|
Antalgic gait, Foot pain, Arthritis, Tarsal sclerosis, Tarsal stippling, Ankle pain, Chondritis, ... |
ORPHA:563991 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... |
ORPHA:566943 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Cartilage destruction |
ORPHA:2380 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor... |
ORPHA:289601 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Carotid artery calcification, Ankylosis, Arterial stenosis, Genera... |
OMIM:208000 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular... |
OMIM:618363 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... |
OMIM:146300 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Waddling gait, Lumbar ... |
ORPHA:99642 |
Metachondromatosis |
|
Multiple enchondromatosis, Abnormal joint morphology |
OMIM:156250 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... |
ORPHA:93308 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Inability to walk, Ankle clonus, High palate, Gait disturbance... |
OMIM:611225 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Osteoarthritis, Coxa vara, Bilateral coxa valga, Arthralgia of the hip, Waddling gait, Genu varum... |
ORPHA:166002 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... |
ORPHA:166011 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Hyperext... |
OMIM:610967 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Osteoarthritis, Metaphyseal widening, Coxa vara, Sclerotic verte... |
OMIM:208230 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Waddling gait, Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, A... |
OMIM:132400 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Sensorineural heari... |
ORPHA:3152 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Waddling gait, Epiphyseal dysplasia, Broad-based gait, Tibial torsion, Knee osteoarthritis, Genu ... |
OMIM:600204 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly |
ORPHA:1937 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog... |
ORPHA:2619 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hype... |
ORPHA:3416 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... |
OMIM:177170 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Wormian bones, Pathologic fracture, Abnormal cortical bone morpholo... |
ORPHA:166277 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Osteoarthritis, Abnormality o... |
ORPHA:429 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Waddling gait, Lumbar hyperlordosis, Broad hallux, Accelerated skeletal ma... |
OMIM:165800 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Elevated circulating creatine kinase concentration, Micrognathia, Short neck, Flexion contracture... |
ORPHA:75840 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Sensorineural heari... |
ORPHA:2790 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Carious teeth, Flexion contract... |
OMIM:203550 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Spinal muscular atrophy, Elev... |
OMIM:615290 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... |
ORPHA:93307 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Open bite... |
ORPHA:61 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Flattened metatarsal heads, Generalized morning stiffness, Coxa vara, Arthritis, Con... |
OMIM:208250 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Distal joint laxity, Kyphos... |
OMIM:616471 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion, Osteopor... |
OMIM:234250 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Delayed skeletal maturation, Short 1st metacarpal, Joint hyperflexibil... |
ORPHA:63442 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Elevated circulating creatine kinase concentration, Knee ... |
OMIM:600969 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fractures, Abnormality of the dentition... |
ORPHA:53 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Ataxia, Inability to walk, Gait ataxia, High palate, Enamel hypoplasia, Retrognathia |
OMIM:617915 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil... |
OMIM:601492 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Winchester Syndrome |
|
Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,... |
OMIM:277950 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Familial Avascular Necrosis Of Femoral Head |
|
Limited hip movement, Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femora... |
ORPHA:86820 |
Osteochondritis Dissecans |
|
Abnormality of the knee, Decreased hip abduction, Joint stiffness, Abnormal joint morphology, Lim... |
ORPHA:2764 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum |
ORPHA:71267 |
Diastrophic Dysplasia |
|
Joint dislocation, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting... |
ORPHA:628 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,... |
OMIM:271650 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness, Lower limb asymmetry |
OMIM:166700 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ... |
OMIM:619795 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
|
Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De... |
OMIM:114100 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... |
ORPHA:93311 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... |
ORPHA:93356 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... |
ORPHA:93360 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Reduced bone mineral density, Femoral bowing, Dentinogenesis imperfecta,... |
OMIM:614856 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... |
OMIM:156550 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Small for gestational age, Fractured radius, Wormian bones, Decreased fi... |
OMIM:616897 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... |
OMIM:259440 |
48,Xyyy Syndrome |
|
Acne, Short neck, Thick lower lip vermilion, Irregularly spaced teeth, Azoospermia, Radioulnar sy... |
ORPHA:99329 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Bone pain, Ost... |
OMIM:602080 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi... |
ORPHA:166272 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... |
ORPHA:85184 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals |
OMIM:269630 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ... |
OMIM:618484 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Micrognathia, Short... |
OMIM:611890 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... |
ORPHA:2614 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Ver... |
OMIM:301014 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturat... |
OMIM:602111 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Beukes Hip Dysplasia |
|
Avascular necrosis of the capital femoral epiphysis, Flat capital femoral epiphysis, Osteoarthrit... |
OMIM:142669 |
Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta |
OMIM:208060 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skelet... |
OMIM:610687 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ... |
OMIM:300602 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility, Hypogonadism, Gait disturbance, Cubitus valgus, Congenital musc... |
ORPHA:1875 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:277440 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga |
OMIM:615612 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, Hy... |
OMIM:264700 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Bone pain, Abnormality of the wrist, Avascular necr... |
ORPHA:97332 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Abnormal metatarsal morphology, Knee osteoarthritis, ... |
ORPHA:85408 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... |
ORPHA:2204 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis, Hearing impairment |
ORPHA:178377 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Long hallux, Flexion contracture, Thick lower lip vermilion, Gingival overgrowth, Aplas... |
OMIM:618658 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Ca... |
OMIM:259700 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Coxa valga, Trismus, Hypoplastic ilia... |
OMIM:616583 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... |
ORPHA:1423 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Microtia, Hypoplasia of the zygom... |
OMIM:613717 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Acne, Rhizomelia, Micrognathia, Short neck, Kyphosis, Abn... |
ORPHA:3098 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Abn... |
ORPHA:85446 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Abnormality of ... |
ORPHA:163649 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Delayed... |
OMIM:157800 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Hip d... |
OMIM:616756 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Calcification of cartilage, Chondro... |
ORPHA:1416 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... |
OMIM:254090 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R... |
ORPHA:89936 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Melorheostosis |
|
Increased bone mineral density, Lower limb asymmetry, Joint stiffness, Bone pain, Hyperostosis, A... |
ORPHA:2485 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Elevated circulating c... |
OMIM:248800 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Cryptorchidism, ... |
OMIM:618393 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Hearing imp... |
OMIM:239100 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Genu recurvatum, C... |
ORPHA:137834 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna... |
ORPHA:93333 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Waddling gait, Short metacarpal, Enlarged joints, Rhizomelia, Kyphosco... |
ORPHA:263463 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... |
OMIM:215045 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... |
OMIM:212780 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Micrognathia, Short neck, Hamstring contractures, Patellar dislocation, Osteochon... |
ORPHA:96183 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral valve calcification, Calcification of the aorta |
OMIM:231005 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... |
OMIM:607634 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali... |
ORPHA:970 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Osteoarthritis, Abnormality of the elbow, Delayed skelet... |
ORPHA:633 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp... |
OMIM:184460 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Flexion contracture, Tapered finger, Cryptorchidism, Obesity, Scoliosis, R... |
OMIM:615547 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Carious teeth, Radioulnar synostosis, Gait disturbance, Abnormal pa... |
ORPHA:3270 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... |
ORPHA:56304 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Osteoarthritis, Submucous c... |
OMIM:108300 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic valve calcification, Coarctation of aorta, Ascending aortic dissecti... |
ORPHA:402075 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Single t... |
OMIM:210600 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Sandal gap, Elevated circulating creatine kinase concentration, Ankle flex... |
OMIM:619040 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K... |
ORPHA:496689 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:324964 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvi... |
OMIM:184252 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Abnormalit... |
ORPHA:93160 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Pierre-Robin sequence, Cleft ... |
OMIM:184840 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener... |
OMIM:259420 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Vertebral wed... |
OMIM:610968 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Osteoarthritis, Obesity, Palmoplantar keratoderma, Abnormality o... |
ORPHA:2206 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, ... |
ORPHA:3250 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Small for gestational age, Talipes equinovarus, Kyphosis |
ORPHA:85288 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Keratitis, Osteoarthrit... |
ORPHA:1657 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... |
ORPHA:289157 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig... |
ORPHA:3258 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnorm... |
ORPHA:166100 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Micrognathia, Short neck, Limb-girdle muscle ... |
ORPHA:171436 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... |
OMIM:223800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Elevat... |
OMIM:606612 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Hyperlordosis, Delayed skelet... |
ORPHA:557003 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club... |
ORPHA:1525 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... |
ORPHA:3409 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro... |
OMIM:112240 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Reduced bone mineral density, Abnormal dental enamel morphology, H... |
ORPHA:582 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, High, narrow palate, Kyphosis, Split hand, Unsteady gait... |
OMIM:618124 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Bone pain, Rickets, Hypophosphatemic rickets |
OMIM:193100 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:114300 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Abnormality of the dentition, Kyphosis, Delayed skeletal maturat... |
ORPHA:1548 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Hypophosphatasia, Childhood |
|
Waddling gait, Elevated plasma pyrophosphate, Craniosynostosis, Premature loss of primary teeth, ... |
OMIM:241510 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab... |
ORPHA:2635 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Osteoporosis, Obesity, Short metatarsal,... |
OMIM:612463 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Eczema, Narrow mouth, Kyphosis, Hip dysplasia, Tongue fasciculations, Facial myokymia, Fa... |
OMIM:620007 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Single transverse palmar crease, Short neck, Kyphosis, Cryptorchidism, Flexion contracture, High ... |
ORPHA:178148 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Elevated circulating crea... |
OMIM:255800 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Kyphosis, Cryptorchidism, Short metatarsal, Small ... |
OMIM:180870 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Waddling gait, Short metacarpal, Iliac crest ser... |
OMIM:607326 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Difficulty walking, Lower limb a... |
OMIM:617087 |
Ck Syndrome |
|
Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, Abnormal digit morphology, High palate, S... |
OMIM:300831 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Malar prominence, M... |
ORPHA:48431 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Whistling appearance, Tri... |
OMIM:277720 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism, Flexi... |
ORPHA:90322 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Eczema, Decreased palmar creases, Micrognathia, Kyphosis, Cryptorchidi... |
ORPHA:352490 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hip dislocation, Small hand, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Osteoporosis, Obesity, Short ... |
OMIM:103580 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Taurodontia |
OMIM:190320 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... |
ORPHA:2616 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Cerebral calcification, Adrenal calcification, Abnormal r... |
ORPHA:51608 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Cryptorchidism, ... |
OMIM:619293 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix |
OMIM:245650 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Abnormality of the den... |
ORPHA:3101 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Thin lon... |
OMIM:616507 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Dent... |
OMIM:608940 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Ataxia, Amelogenesis imperfecta |
OMIM:226750 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... |
ORPHA:296 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ... |
OMIM:618291 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphosis, Hyperl... |
OMIM:300718 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A... |
ORPHA:90653 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Patellar hypoplasia, Dysmetria, H... |
ORPHA:3041 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypocalcemic tetany, Hypophosphatemic rickets, G... |
ORPHA:289176 |
Calciphylaxis |
|
Ectopic ossification, Arterial calcification |
ORPHA:280062 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, High, narrow palate, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Gait... |
ORPHA:2181 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... |
ORPHA:98863 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Osteoporosis, Obesity, Short metatarsal,... |
OMIM:612462 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... |
OMIM:618323 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Kyphosis, Obesity, Oligodontia, Large hands, Everted lower lip vermilion, Scolios... |
ORPHA:276630 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification |
OMIM:614473 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Bone pain, Ectopic ossification in muscle tissue, B... |
ORPHA:2762 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... |
ORPHA:77297 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Platyspondyly, Micromelia |
ORPHA:93283 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short neck, High palate, Short philtrum, Short palm, Clinodactyly of the 5th finger, Open bite, O... |
ORPHA:85293 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Cryptorchidism, Shor... |
OMIM:301900 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Hypogonadotrop... |
ORPHA:465508 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, B... |
OMIM:608728 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnormal d... |
ORPHA:2916 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Micrognathia... |
ORPHA:2780 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Delayed epiphyseal ossificat... |
ORPHA:79106 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Everted lower lip v... |
ORPHA:505652 |
Wilson Disease |
|
Back pain, Abnormality of the hand, Abnormality of the menstrual cycle, Bone pain, Increased body... |
ORPHA:905 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Arthritis, Azoosperm... |
OMIM:602390 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... |
OMIM:607155 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
Sydenham Chorea |
|
Movement abnormality of the tongue, Unsteady gait, Septic arthritis, Endocarditis |
ORPHA:306731 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98853 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cryptorchidism, Delayed skeletal maturation, Cleft palate... |
OMIM:613823 |
48,Xxyy Syndrome |
|
Abnormal shoulder morphology, Clinodactyly of the 5th finger, Chronic otitis media, Ataxia, Abnor... |
ORPHA:10 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sensorineural hearing impairment, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Familial Expansile Osteolysis |
|
Bone pain, Osteolysis, Conductive hearing impairment, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... |
ORPHA:229717 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... |
OMIM:180300 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Small for gestational age, Sandal gap, Abnormal pinna mor... |
OMIM:607143 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foo... |
OMIM:301041 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Ataxia, Kyphosis, Cleft palate, Short philtrum, G... |
ORPHA:85317 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Distal lower limb amyotrophy, Joint laxity, Sandal gap, Kyphosis, Cryptorc... |
OMIM:300354 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted lower lip v... |
OMIM:619980 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia |
ORPHA:251393 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Posteriorly rotated ears, Micrognathia, Congenital sensorineural ... |
OMIM:617306 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Elbow flexion contracture, Knee flex... |
OMIM:604416 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Dislocated radial head, Micrognathia, Kyph... |
OMIM:610758 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Persistent open anterior fontanelle, Ab... |
ORPHA:1798 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Micrognathia, Short neck, Cryptorchidism, Osteoart... |
OMIM:618000 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c... |
OMIM:265000 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... |
OMIM:119600 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Decreased palmar creases, Micrognathia, Kyphosis, Deep philtrum, Wide ... |
OMIM:615834 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Limited hip extensi... |
OMIM:617114 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl... |
OMIM:255200 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Central Core Disease |
|
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Elevated circulating creat... |
ORPHA:597 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Broad-based gait, Unsteady gait, Taurodontia, High palate, Widely spaced teeth, Ena... |
OMIM:618205 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis, Proximal femoral epiphysiolysis |
OMIM:182260 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, Pierre-Robin seque... |
OMIM:619184 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Hip... |
OMIM:314580 |
15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Joint laxity, Brachydactyly, Small for gestational age, Congenital diaphragmatic... |
ORPHA:94065 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Kyphosi... |
OMIM:108145 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Distal lower limb muscle... |
OMIM:620080 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel h... |
ORPHA:2643 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... |
OMIM:166200 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo... |
OMIM:618188 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Micromelia, Proximal placement of thumb, Kyphos... |
ORPHA:3121 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior ... |
OMIM:230650 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Large knee, D... |
OMIM:619269 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb... |
OMIM:607095 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Micrognathia, Avascular necrosis of... |
ORPHA:1901 |
Alkaptonuria |
|
Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic valve calcifi... |
OMIM:203500 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Kyphos... |
OMIM:609128 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Oral ulcer, Synovit... |
ORPHA:567544 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, High palate, Lambdoidal... |
OMIM:616294 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout |
OMIM:610947 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Sensorineural hearing impairment, Osteopetrosis, Conductive hearing im... |
ORPHA:1522 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Proximal placement of thumb, Micrognathia, Short thumb, Preaxial hand p... |
OMIM:113620 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... |
ORPHA:666 |
Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit... |
ORPHA:1545 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Facial palsy, Kyphoscoliosis, Micrognathia, Carious teeth, Trismus, Keratitis, Short ... |
OMIM:272430 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Kyp... |
ORPHA:15 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... |
ORPHA:391665 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Low-set ears, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Waddl... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Abnormality of the hand, Hyperlordosis, Short neck, Joint st... |
OMIM:252605 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... |
ORPHA:2741 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Scoliosis, Palmoplantar cutis laxa, Dentinogenesis impe... |
OMIM:229200 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... |
ORPHA:3454 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Unsteady gait... |
ORPHA:464282 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormality of the tongue, Increased susceptibility to fractures, Weight loss,... |
ORPHA:216866 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Micrognat... |
OMIM:265800 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... |
ORPHA:50945 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ... |
OMIM:193700 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Ataxia, Kyphoscoliosis, Micrognathia, Short neck, Flexion contracture, Small ha... |
OMIM:300055 |
Dystonia 31 |
|
Abnormal posturing, Difficulty walking |
OMIM:619565 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Delayed skeletal maturation, Severe con... |
ORPHA:90646 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis |
OMIM:300310 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Wrist fl... |
ORPHA:800 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Inability to wal... |
OMIM:128100 |
Mcdonough Syndrome |
|
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism, Aplasia/Hypop... |
ORPHA:2471 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis, Short femoral... |
OMIM:614701 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Pro... |
OMIM:617404 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Pseudohypoparathyroidism Type 1C |
|
Short neck, Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal pha... |
ORPHA:79444 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the dist... |
ORPHA:1234 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... |
OMIM:241530 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia, Failure to thrive |
OMIM:226700 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Keratitis, Motheaten muscle fibers, Palmoplantar hyperkeratosis, Muscular dystroph... |
OMIM:226670 |
C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... |
OMIM:620321 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis, Failure to thrive, Small for gestational age |
OMIM:613217 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Genu recurvatum, Acute rhabdomyolysis, Kyphoscoliosis, Abnormality of the dentition, Malar promin... |
OMIM:604168 |
Grant Syndrome |
|
Joint dislocation, Decreased skull ossification, Joint hyperflexibility, Wormian bones, Abnormal ... |
ORPHA:2097 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int... |
ORPHA:69087 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Calcification of the aorta, Gonadal calcification, Stippled calcifica... |
ORPHA:60025 |
Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Anemia |
ORPHA:37748 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Acute hepatitis, Limited elb... |
ORPHA:39812 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... |
OMIM:305620 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Brachydactyly, Thoracolumbar kyphoscoliosis, Metaphyseal cupping, Trident hand,... |
OMIM:618853 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis, Tarsal synostosis |
OMIM:617898 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental m... |
OMIM:253250 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri... |
OMIM:613312 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Joubert Syndrome 18 |
|
Joint laxity, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, Postaxial polydactyly, Cl... |
OMIM:614815 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cerebral calcification, Calcification of the aorta, Arthritis, Moyam... |
ORPHA:51 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Dental crowding, Micrognathia, Ragged-red muscle fibers, High palate, General... |
OMIM:620351 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Knee flexion contracture, High palate, Wrist flexion contra... |
OMIM:121050 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Cryptorchidism, Delayed skeletal maturat... |
OMIM:614857 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Mix... |
OMIM:259775 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci... |
ORPHA:206572 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e... |
ORPHA:2215 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Shuffling gait, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Mixed hearing impairment, Metaphyseal widening, Cranial hyperostosis, Flar... |
OMIM:123000 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bone pain, Tooth abscess, Rickets, Osteomalacia |
ORPHA:89937 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted l... |
ORPHA:2429 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Micr... |
OMIM:615761 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Oculodentodigital Dysplasia |
|
Ataxia, Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 finger syndac... |
OMIM:164200 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Scarf Syndrome |
|
Diastasis recti, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of the vertebral bod... |
ORPHA:3134 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Pneumonia, Short neck, Thin lower lip vermilion, Short metatarsal, ... |
OMIM:613328 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... |
ORPHA:1345 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Short neck, Chronic otitis media, Clinodactyly of the 5th finger, Abnormal... |
ORPHA:96263 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Subaortic Stenosis-Short Stature Syndrome |
|
Acne, Bilateral single transverse palmar creases, Micrognathia, Short neck, Kyphosis, Obesity, Sc... |
ORPHA:3191 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Micrognathia, High palate, Short philtrum, Clinodactyly of the 5th finger, Ataxia, Thoracolumbar ... |
OMIM:618443 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Sandal gap, Joint hypermobility, Ataxia, Carious teeth, Overweight, In... |
OMIM:619229 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Spastic gait, Ankle clonus, Infertility, Scoliosis, Upper limb dysmetria, Limb muscle w... |
OMIM:614409 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Crumpled long bones, Recurrent fractures, Ab... |
ORPHA:2050 |
Huntington Disease-Like 1 |
|
Dysmetria, Gait ataxia, Abnormal shoulder morphology, Weight loss, Gait disturbance, Abnormal pos... |
ORPHA:157941 |
Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Pfapa Syndrome |
|
Arthritis, Weight loss, Infectious encephalitis, Abnormal oral cavity morphology |
ORPHA:42642 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures |
OMIM:304700 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Abnormality of the elbow, Limitation of j... |
ORPHA:1486 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubb... |
OMIM:259100 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Myeloid leukemia, Wide anterior fontanel, Abnormal cochlea morpholog... |
ORPHA:798 |
Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Pseudohypoparathyroidism Type 1A |
|
Short neck, Short metatarsal, Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypo... |
ORPHA:79443 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High p... |
ORPHA:192 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T... |
ORPHA:583 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Larsen-Like Syndrome |
|
Joint dislocation, Joint laxity, Kyphoscoliosis, Delayed skeletal maturation, Dental malocclusion... |
OMIM:608545 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod... |
ORPHA:2980 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Carious teeth, Wide... |
OMIM:269300 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Accelerated skel... |
OMIM:277590 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Ataxia, Delayed eruption of primary teeth, Abnorma... |
ORPHA:90321 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Talipes, Micromelia, Micrognat... |
ORPHA:35107 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Arthritis, Re... |
OMIM:611762 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis, Spastic gait |
ORPHA:320365 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79405 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bo... |
OMIM:619638 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... |
OMIM:259720 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphos... |
ORPHA:254346 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Flexion contracture, Arthritis, Finger swel... |
OMIM:617591 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Delayed skeletal maturat... |
ORPHA:3085 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium |
ORPHA:220393 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Facial hypotonia, Slender build, Genu recurvatum, Kyphosis, ... |
ORPHA:364028 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat... |
ORPHA:536532 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal res... |
ORPHA:94089 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the knee, Abnormality of the temporomandibular joint, Psoriasif... |
ORPHA:85436 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Skin rash, Pneumonia, Bowing of the legs, Hypop... |
ORPHA:1855 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Patchy osteosclerosis, Micrognathia, Delayed skeletal maturation, Small... |
OMIM:241410 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Scol... |
OMIM:300337 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral ... |
OMIM:231070 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Abnormal form of... |
ORPHA:1354 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Sclerotic cranial sutures, Abnormal hand morphology, Osteolysis involvin... |
ORPHA:371428 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Short neck, Mesomelic/rhizomelic limb shortening, ... |
ORPHA:2347 |
Short Stature, Brussels Type |
|
Calcification of cartilage |
ORPHA:2867 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Camptodactyly of fi... |
OMIM:619951 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... |
ORPHA:65759 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79406 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Fasciitis, Abnormality of the dentition, Flexion contracture, Dental mal... |
ORPHA:90289 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ... |
ORPHA:251014 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of the dentition, Kyphosis, Gingival overgrowth, Upper limb undergrowth, Lowe... |
OMIM:169400 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, A... |
ORPHA:1005 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Narrow greater sciatic notc... |
ORPHA:508533 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Bowing of the long bones, Epiphyseal dysplasia, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Failure to thrive, Chronic sinusitis |
ORPHA:397596 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Kyphosis, Distal upper limb amyotrophy, Gait disturbance, S... |
ORPHA:101075 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R... |
ORPHA:47612 |
Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Osteoarthritis, Im... |
OMIM:606069 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Delayed skeletal maturation, S... |
ORPHA:93324 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, High palate, Bilateral coxa va... |
OMIM:615582 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Thoracolumbar ... |
OMIM:616723 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal shoulder morphology, Join... |
ORPHA:2115 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Failure to thrive, Flexion contracture, Kyphosis |
OMIM:618237 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Varicose veins, Mitral valve calcification, Calcification of the aorta, Aortic valve calcification |
ORPHA:2072 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Pes planus, Mixed hearing impairment, Short femur, Talipes, Micrognath... |
OMIM:300990 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Arachnodactyly, Micrognathia, Short neck, High, narrow palate, Kyphosis, C... |
OMIM:248700 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Abnormal form of the vertebral bodies, Aspiration pneumonia, Infectious en... |
ORPHA:354 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Unsteady gait, Small hand, Ankle clonus, Short foot, Scoliosis |
OMIM:617435 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Osteomalacia,... |
OMIM:309000 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79411 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... |
OMIM:609220 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Aphthous ulcer, Uveitis, Arthri... |
OMIM:120100 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High p... |
ORPHA:958 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short neck, Micrognathia, Kyphosis, ... |
ORPHA:3082 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Sensorineural hearing impairment, Increased susceptibility to fr... |
OMIM:615066 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri... |
ORPHA:2848 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis, Hearing impairment |
OMIM:167250 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolysi... |
ORPHA:2796 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Kyphosis,... |
ORPHA:392 |
Desmosterolosis |
|
Rhizomelia, Posteriorly rotated ears, Micrognathia, Generalized osteosclerosis, Cupped ear, Joint... |
OMIM:602398 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Delayed cl... |
OMIM:127000 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Failure to thrive, Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Femoral b... |
OMIM:126550 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormal... |
ORPHA:198 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain, Osteolysis, ... |
ORPHA:73 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thi... |
ORPHA:2983 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P... |
ORPHA:534 |
Mucopolysaccharidosis, Type Vii |
|
Accelerated skeletal maturation, Short neck, Flexion contracture, Widely spaced teeth, Narrow gre... |
OMIM:253220 |
Sillence Syndrome |
|
Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral dis... |
ORPHA:3168 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Ab... |
ORPHA:93315 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Kyphosis, Inability to walk, Recurrent pneumonia, Elbow f... |
OMIM:618493 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Persistence of primary teeth |
ORPHA:375 |
Baralle-Macken Syndrome |
|
Tapered finger, Inability to walk, High, narrow palate, Kyphosis, Obesity |
OMIM:619255 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Enamel hypoplasia, Axillary pterygium, Oral mucosal blisters |
OMIM:226730 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Malar prominence, Short neck, Micrognathia, Hyperlordosis, Kyphosis, ... |
ORPHA:2522 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Weight loss, Arthritis, Muscular edema |
ORPHA:3165 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Emanuel Syndrome |
|
Broad jaw, Chronic oral candidiasis, Torticollis, Congenital hip dislocation, Dental crowding, Sa... |
OMIM:609029 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Joint hypermobility, Congenital diaphragmatic hernia, Arachnodactyly, Carious te... |
OMIM:617602 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurrent fractures, Protrusio... |
OMIM:610682 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Open bite, Carious teeth, Kyphosis, Cryptorchidism, Reduced bone mineral density, V... |
ORPHA:2617 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract... |
OMIM:601559 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Rat-Bite Fever |
|
Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... |
ORPHA:31205 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Microtia, Joint hypermobility, Genu valgum |
OMIM:617798 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Joint stiffness, Carious teeth, Kyphosis, Scoliosis |
ORPHA:2047 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Eczema, Micrognathia, Cryptorchidism, Oral ulc... |
OMIM:617052 |
Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... |
ORPHA:261318 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the vertebral spinous pro... |
ORPHA:1299 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Patchy osteosclerosis, Micr... |
ORPHA:2323 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Micrognathia, Tapered finger, Kyphosis, Joint hyperflexibility, Everted lower... |
ORPHA:2479 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Tho... |
OMIM:619777 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Arthritis, Generalized amyo... |
OMIM:619423 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ... |
OMIM:180849 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Short neck, Bowing of the legs, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ... |
ORPHA:397744 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Bone pain, Reduced bone mineral density, Hypophosphatemic rickets, P... |
ORPHA:157215 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... |
OMIM:618727 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Gingivitis, Knee flexion contracture... |
ORPHA:477 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture... |
OMIM:615656 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Tubulointerstitial nephritis, High palate, ... |
OMIM:218330 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... |
ORPHA:33364 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Micrognathia, Shor... |
OMIM:616145 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger, Cryptorchidism |
OMIM:618512 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Ca... |
ORPHA:88628 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Congenital fibrosis of extraocular muscles, Kyphosis |
OMIM:609384 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Broad h... |
OMIM:614188 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Short mandibula... |
OMIM:141300 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Abnormality of ... |
OMIM:617952 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Ataxia, Delayed eruption of primary teeth, Carious teeth,... |
OMIM:216400 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration |
OMIM:616414 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Fibrous dysplasia of the bo... |
ORPHA:249 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Patellar hypoplasia, High palate, Microdontia, Short phalanx of fi... |
ORPHA:221016 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Basal ganglia calcification, Calcification of the small brain vessels, Dense calcifications in th... |
OMIM:213600 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Downturned corners of mouth, Short palm, Syndactyly, Hypogonad... |
OMIM:176270 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Long p... |
ORPHA:2598 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Oral ulcer, Weight loss, Arthritis... |
OMIM:617321 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Hypercalcemia, Abnormality of the hand, Abnormality of the dentition... |
ORPHA:476126 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility, Lower limb hypertonia, Gait disturbance, Upper limb hypertonia |
OMIM:614898 |
Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Intramuscular he... |
ORPHA:169802 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Cryptorc... |
OMIM:616331 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Werner Syndrome |
|
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Osteoporosis, Small hand, Sl... |
ORPHA:902 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Cartilage destruc... |
ORPHA:829 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Joint stiffness, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoath... |
OMIM:617988 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Bilateral single transverse palmar creases, Prominent metopic ridge, Facial palsy, T... |
ORPHA:261349 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis |
ORPHA:66630 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... |
ORPHA:93357 |
Gaucher Disease, Type Iii |
|
Vascular calcification |
OMIM:231000 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis |
ORPHA:2760 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th finger, Bilateral ... |
ORPHA:488642 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
Koolen-De Vries Syndrome |
|
High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Prominent metopic r... |
OMIM:610443 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge... |
ORPHA:2176 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Downt... |
ORPHA:238750 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Elbow contracture, Multiple pterygia, Craniosynostosis, Tarsal... |
OMIM:178110 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti... |
ORPHA:2062 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Short palm,... |
OMIM:268310 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, ... |
OMIM:609008 |
Farber Disease |
|
Skeletal muscle atrophy, Abnormality of the knee, Abnormality of the hand, Short toe, Flexion con... |
ORPHA:333 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Fai... |
ORPHA:85410 |
Polymyositis |
|
Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... |
ORPHA:732 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In... |
ORPHA:448237 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Arthritis, Membranous nephropathy, Recurre... |
OMIM:615559 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Pustule, Cheilit... |
ORPHA:247353 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Postaxial polydactyly, Retrognathia, Inflamma... |
OMIM:614576 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
OMIM:600920 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... |
OMIM:614700 |
Scarf Syndrome |
|
Diastasis recti, Short neck, Cryptorchidism, Abnormal form of the vertebral bodies, Short sternum... |
OMIM:312830 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficien... |
OMIM:129400 |
Whipple Disease |
|
Hyponatremia, Myositis, Pericarditis, Ataxia, Cachexia, Myocarditis, Uveitis, Arthritis, Erectile... |
ORPHA:3452 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Inability to walk, Flexion contracture, Ankle clonus, Distal amyotrophy, Scoliosis |
OMIM:609541 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:96169 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis, Inflammatory abnormality... |
ORPHA:816 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Wide mouth, Long philtrum, Fa... |
OMIM:608776 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu... |
ORPHA:2502 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Bone pain, Osteolysis, Weight loss, Joint swelling... |
ORPHA:35687 |
12Q14 Microdeletion Syndrome |
|
Micrognathia, Abnormality of the spleen, Osteopoikilosis, Clinodactyly of the 5th finger, Failure... |
ORPHA:94063 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Ataxia |
ORPHA:796 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital d... |
ORPHA:2311 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Endoc... |
ORPHA:3099 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Osteoporosis, Scol... |
OMIM:615381 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Eczema, Osteoporosis, Rickets, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, I... |
OMIM:212750 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Macroorchidism, Malar flat... |
OMIM:618874 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Dental crowding, Sandal gap, Single transverse palmar... |
OMIM:617061 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Sensorineural hearing impairment, Flexion con... |
ORPHA:17 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Sinusitis, Fasciitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Myopathy, Scoliosis, Failure to thrive |
OMIM:618234 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Paresis of extensor muscles of the big toe, Progressive flexion contractures, Ataxia... |
ORPHA:98808 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Abnormal pinna morphology, Wide anterior fontanel, Ulnar bowi... |
OMIM:207410 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fracture... |
OMIM:608654 |
Cinca Syndrome |
|
Skin rash, Elevated circulating C-reactive protein concentration, Patellar overgrowth, Uveitis, A... |
OMIM:607115 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Small earlobe, Genu varum, Long toe,... |
OMIM:264090 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal... |
OMIM:618050 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Clubbing of f... |
ORPHA:2905 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Marshall Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Osteoarthritis, Thick lowe... |
ORPHA:560 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... |
ORPHA:3219 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... |
OMIM:249420 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Absent trapezium, Pulp calcification, Absent scaphoid, Absent trapezoid bone, Microdontia, Distal... |
OMIM:606895 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Conjunctivitis, Narrow mouth, Enamel hypoplasia, Mitt... |
OMIM:226600 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti... |
OMIM:186580 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Weight loss |
ORPHA:3287 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia,... |
OMIM:114290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Ataxia, Single transverse palmar crease, Kyphosis, Unsteady gait, Scoliosis |
OMIM:300861 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac... |
OMIM:619557 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont... |
ORPHA:314588 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Macroorchidism, Abnormal morphology of ulna, Abnormality of the dentition,... |
ORPHA:93 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Short distal phalanx of the thumb, Psoriasiform dermatitis, Ataxia, Hyperlordosis, Th... |
ORPHA:221139 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Short neck, Kyphosis,... |
ORPHA:236 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology, Delayed closure of the anterior fontan... |
OMIM:614886 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Diaphyseal thickening, Joint stiffness, Short neck, Hypoplasia of... |
OMIM:607014 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Thenar muscle atrophy, Micrognathia, Contracture of the distal interphal... |
OMIM:607015 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... |
OMIM:619503 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spin... |
ORPHA:508488 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Pust... |
OMIM:614204 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporos... |
OMIM:617190 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Calcinosis, Hypo... |
ORPHA:2909 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Hypogonadotropic hypogonadism, Dysmenorrhea, Macrodactyly, Abno... |
ORPHA:314769 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis, High palate, Scoliosis |
OMIM:619825 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Osteoporosis, Obesity, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Kyphosis, Deep philtrum, Cryptorch... |
ORPHA:404440 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... |
OMIM:602535 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Cleft... |
OMIM:616894 |
Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Epiphyseal dysplasia, Cubitus valgus, Metatarsus adductus, Delayed skel... |
OMIM:611962 |
Atypical Rett Syndrome |
|
Kyphosis, Inability to walk, Small hand, Gait ataxia, Short foot, Gait disturbance, Scoliosis, Lo... |
ORPHA:3095 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Bone pain, Polyarticular arthritis,... |
OMIM:142680 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Acne, Dysmenorrhea, Hypogonadotropic hypogonadism, Abnormality ... |
ORPHA:963 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Abnormality of the dentition, Kyphosis, Gait apraxia, Gait ata... |
OMIM:312750 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ... |
OMIM:619718 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Short iliac bones, Increa... |
OMIM:607944 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Trismus, Flexion contracture... |
ORPHA:2671 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Downturned corners of mo... |
ORPHA:955 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets |
OMIM:613388 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79409 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Infla... |
OMIM:106300 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Calcinosis, Sh... |
ORPHA:221008 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Conductive hearing ... |
ORPHA:1826 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Crypto... |
OMIM:619194 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Microdontia, Abnormali... |
ORPHA:285 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Gout, Increased muscle glycogen content, Hype... |
OMIM:232800 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Hamartoma of tongue, Cleft upper lip, Postaxial polyda... |
OMIM:613091 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, High, narrow palate, Kyphosis, Cryptorchidism, Wide mouth, Deep pal... |
OMIM:619745 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Kyphosis, Cryptorchidism, High palate, Short philtrum, Decreased tes... |
OMIM:615433 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Weigh... |
ORPHA:183 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Palmoplantar keratoderma, Mi... |
ORPHA:79410 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Gout |
ORPHA:510 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Skin rash, Ataxia, Uveitis, Arthritis, Conjunctivitis, Inflammat... |
ORPHA:36412 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Clin... |
ORPHA:1724 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... |
ORPHA:93274 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Short neck, Hi... |
ORPHA:2789 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Enamel hypoplasia |
OMIM:612843 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent aphthous stomatitis |
ORPHA:343 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Dental crowding, Joint hypermobility, Micrognathia, Shor... |
OMIM:130720 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splen... |
ORPHA:667 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Fl... |
ORPHA:3042 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Head titubation, Kyphosis, Bronchiectasis, Dysmetria, Knee flexion contract... |
OMIM:619708 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Fe... |
OMIM:620076 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Weight ... |
ORPHA:29207 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Sl... |
OMIM:300676 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet... |
OMIM:102500 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Single t... |
ORPHA:521426 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Abnormality of the ear, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, L... |
ORPHA:3455 |
Momo Syndrome |
|
Delayed eruption of teeth, Large for gestational age, Short neck, Thick lower lip vermilion, Dent... |
ORPHA:2563 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Large for gestat... |
ORPHA:77301 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Short foot, Hip dysplasia,... |
ORPHA:500055 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylos... |
ORPHA:95699 |
Idiopathic Camptocormia |
|
Myositis, Abnormal intervertebral disk morphology, Elevated circulating creatine kinase concentra... |
ORPHA:1320 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... |
OMIM:182250 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf... |
ORPHA:90291 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Thin upper lip vermilion, Small hypothenar eminence, Lumbar hyperlordosis, Streak ova... |
ORPHA:2232 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Dental crowding, Micrognathia, Short neck, Downturned corners of mou... |
ORPHA:3310 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Abnormal pinna m... |
ORPHA:2839 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal form of th... |
ORPHA:904 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Hip dislocation, Osteolytic defects of the phalanges of the hand, Join... |
ORPHA:2484 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Stiff neck, Thoracic scoliosis, Overlapping fingers, Micrognathia, Short neck, Narro... |
OMIM:617022 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Ataxia, Rickets |
OMIM:560000 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur... |
ORPHA:355 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Bone pain, Difficulty walking, Rheumatoid arthritis, Avascular necr... |
ORPHA:399180 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... |
OMIM:184253 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis |
ORPHA:99014 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans... |
OMIM:617527 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... |
OMIM:603387 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thin upper lip vermilion, Hip contracture, Severe generalized osteoporosis, Micrognathia, Kyphosc... |
OMIM:210730 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Abnormal dental morphol... |
ORPHA:191 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Elevated circulatin... |
OMIM:615084 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... |
OMIM:259730 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Diastasis recti, Craniosynostosis, Limited wrist moveme... |
ORPHA:576 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis... |
ORPHA:809 |
Hereditary Xanthinuria |
|
Arthropathy, Hypouricemia, Gout, Hyperxanthinemia, Myopathy, Rheumatoid arthritis |
ORPHA:3467 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:617056 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Eczema, Hyperhomocystinemia |
OMIM:617780 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Decreased muscle mass, Dental crowding, High palate, Short philtrum, Long ... |
ORPHA:3063 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Short palm, Hypertriglyceride... |
ORPHA:79474 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage |
OMIM:306700 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Hypoalbuminemia, Scoliosis, Premature loss of teeth, F... |
OMIM:610965 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... |
OMIM:278250 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Kyphosis, Cryptorchidism, Po... |
ORPHA:3378 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Titubation, Gait ataxia, Gait disturbance, Abnormal posturing, Hypomimic face |
ORPHA:225147 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Non-midline cleft lip, Cryptorchidism, P... |
ORPHA:2075 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Ataxia, Facial palsy, Kyphosis, Tru... |
OMIM:211530 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Osteoporo... |
ORPHA:79259 |
Scedosporiosis |
|
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art... |
ORPHA:449280 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Bone pain, Clubbing, Osteolytic defects of the phalang... |
OMIM:161700 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Failure to thrive... |
ORPHA:2461 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Eczema, Micrognathia, Tarsal synos... |
ORPHA:85199 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion... |
OMIM:269500 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Joint stiffness, Kyphosis, Choreoathetosis, Gait ... |
ORPHA:702 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Kyphosis, Cryptorchidism, Flexion contracture, Osteoporosis... |
ORPHA:398069 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Abnormality of the dentition, Short neck, Wide mouth, Enamel hypoplasia,... |
OMIM:615802 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cleft lip, Kyphosis, Cryptorchidism, Cleft palate, Camptodactyly, Clinodactyly of t... |
OMIM:619123 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Micrognathia, Sensorineural hearing impairment, Absent stapes, Microtia, Polydactyly,... |
OMIM:301022 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... |
ORPHA:3240 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Elevated circulating creatine kinase concentration... |
OMIM:242840 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypergonadotropic hypogonadism... |
OMIM:203800 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyph... |
ORPHA:457359 |
Congenital Tufting Enteropathy |
|
Orofacial cleft, Weight loss, Arthritis, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Loc... |
ORPHA:73223 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Femoral retroversion, Kyphosis, Orofacial cleft, Macroglossia, ... |
ORPHA:79107 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini... |
OMIM:154230 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Me... |
OMIM:250250 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Short neck, Kyphosis, Thick lower lip vermilion, Flexion contracture, ... |
OMIM:309900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Osteopenia, Sacral dimple, Ataxia, Eczema, Short nec... |
OMIM:300966 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, ... |
ORPHA:810 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Kyphoscoliosis, Protruding tongue, Absent frontal sinuses, Diastema, Kypho... |
OMIM:301040 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Delayed skeletal maturation, Sensorineural h... |
ORPHA:1435 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing |
ORPHA:85165 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Ataxia, Hyperuricemia, Gout |
ORPHA:411543 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
ORPHA:352447 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Macroglossi... |
ORPHA:261144 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Hallux valgus, Dental crowding, Ataxia, Kyphoscoliosis, High, narrow palate, Kyphos... |
OMIM:300967 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Short philtrum, Hypocalcemia, Chronic otitis media, Acne, Abnormal dent... |
ORPHA:567 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Hyperuricemia, Gout |
OMIM:162000 |
Noonan Syndrome 1 |
|
Male infertility, Failure to thrive in infancy, Kyphoscoliosis, Micrognathia, Short neck, High, n... |
OMIM:163950 |
Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Kyphosis, Obesity, Hyperuricemia, Narrow mouth |
ORPHA:261222 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... |
ORPHA:2137 |
Marfan Syndrome |
|
Decreased muscle mass, Dental crowding, Genu recurvatum, Micrognathia, Equinus calcaneus, Flexion... |
OMIM:154700 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Oral ulcer, Arthritis, Malar rash, Nephritis |
ORPHA:93552 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydac... |
OMIM:258850 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive |
OMIM:304790 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Small for gestational age, Pneumonia, Glomerulonep... |
ORPHA:1304 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion... |
ORPHA:812 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Accelerated skeletal maturation, Fibrous dysplasia of the bone... |
ORPHA:562 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis |
OMIM:610743 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Joint stiffness, Weight loss, Arthritis, Glossitis |
ORPHA:397 |
Dowling-Degos Disease |
|
Palmar pits, Arthritis, Abnormality of the hand, Acne inversa |
ORPHA:79145 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypop... |
OMIM:276820 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Wei... |
ORPHA:420741 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognath... |
ORPHA:2785 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Ataxia, Orchitis, Retrobulbar opti... |
ORPHA:117 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal f... |
OMIM:194190 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Short hard palate, Gen... |
ORPHA:1969 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border |
OMIM:616455 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Asymmetry of the mouth, Micrognathia, Kyphosis, Cry... |
ORPHA:401973 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Recurrent skin infections, Craniosynostosis, Oral mucosal blisters,... |
ORPHA:79396 |
Adiposis Dolorosa |
|
Arthritis, Recurrent skin infections, Obesity |
ORPHA:36397 |
Becker Nevus Syndrome |
|
Micromelia, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scoliosis, Spina bifida oc... |
ORPHA:64755 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Tendon xanthom... |
ORPHA:412 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Craniosynostosis, High... |
OMIM:616914 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Delayed skeletal maturati... |
OMIM:307200 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Decreased circulating cerulopla... |
OMIM:304150 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... |
OMIM:240300 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease |
OMIM:616100 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Dental crowding, Protrusio acetabuli, ... |
ORPHA:558 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Failure to thrive in infancy, Eczema, Erythroderma |
OMIM:619510 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Short neck, Proximal placement of thumb, Abnormal ... |
ORPHA:818 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Abn... |
ORPHA:228123 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Dysmetria, Ankle clonus, Gait disturbance, Scoliosis, ... |
ORPHA:88644 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Glomerulonephritis, Recurrent skin in... |
ORPHA:79408 |
Kleefstra Syndrome 2 |
|
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis |
OMIM:617768 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, ... |
ORPHA:217085 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,... |
ORPHA:365 |
Cono-Spondylar Dysplasia |
|
Short humerus, Epiphyseal dysplasia, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture... |
OMIM:259050 |
Fusariosis |
|
Myositis, Sinusitis, Maculopapular exanthema, Fasciitis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal dental morphology, Camptodactyly of finger, Diaphyseal thickening, Flexion contracture, ... |
ORPHA:217093 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, High, narrow palate, Kyphosis, Thick l... |
OMIM:162300 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip |
ORPHA:77300 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Micrognathia, Upper limb undergrowth, Truncal obesity... |
ORPHA:529962 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Joint laxity, Arachnodactyly, Large for gestational age, Hyperlordosis, Ky... |
OMIM:617011 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorchidism, Wide mouth, Hip dysplasia, T... |
ORPHA:261250 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hypocalcemic seizures, Osteope... |
OMIM:612301 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Gait disturbance, Vertebral compression f... |
ORPHA:85193 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Thrombocytopenia, Delayed skeletal maturation, Sple... |
ORPHA:77261 |
Melioidosis |
|
Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Abnormal pa... |
ORPHA:31202 |
Cystinosis |
|
Rickets, Gait disturbance |
ORPHA:213 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Ataxia, Cryptorchidism, Gout, Wide mouth, High palate, Hyperuricemia |
OMIM:300661 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys... |
OMIM:616462 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Alveolar ridge overgrowth, Painless fractures ... |
ORPHA:642 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Knee pain, Crusting erythe... |
ORPHA:324625 |
Dent Disease |
|
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... |
ORPHA:1652 |
Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
3C Syndrome |
|
Finger syndactyly, Short neck, Micrognathia, High, narrow palate, Kyphosis, Hemivertebrae, Cleft ... |
ORPHA:7 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Gastrointestinal inflammation, Reduced... |
ORPHA:881 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Widely spaced teeth, Ataxia, Cleft soft palate, Tapered finger, Cryptorchidism, Supernumerary too... |
ORPHA:268261 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Inflammatory abnormality of the skin, Swelling of proximal interphalange... |
ORPHA:3260 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Eosi... |
OMIM:613795 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Medial calcification of large arteries, Carotid artery dilatation, Dilatation of the ... |
ORPHA:391487 |
Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Aphthous ulcer, Pe... |
OMIM:249100 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Keratoconjunctivitis sicca, Arthritis |
ORPHA:91138 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Kyphosis, Recurrent pneumonia, 2-3 t... |
OMIM:616449 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti... |
OMIM:610984 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated circulating C-reactive pro... |
ORPHA:3243 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Thin upper lip vermilion, Pericarditis, Premature ovarian insufficiency, Hypergonadot... |
OMIM:212065 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Esophagitis, Decreased cervical spine mobility |
ORPHA:71272 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Multiple joint contractures, Small for gestational age, Eczema, Arachnodactyly, To... |
ORPHA:464306 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Elevated circulating C-reactive protein concentration, Perianal abs... |
OMIM:301074 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Palmoplantar cutis laxa, Irregular menstruation, Femo... |
OMIM:616482 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Hypokalemia, Oligome... |
OMIM:219090 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Abnormality of body weight, Pneumonia, Abnor... |
ORPHA:2298 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Tapered fing... |
ORPHA:464311 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis, Bone pain, Abnormal dental pulp m... |
ORPHA:416 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Ataxia, Erythema nodosu... |
OMIM:615688 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Kyphosis, Inability to walk, Limb hypertonia |
ORPHA:500180 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... |
ORPHA:3124 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age, Micrognathia |
OMIM:618272 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... |
OMIM:216340 |
Listeriosis |
|
Back pain, Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Ataxia, Pustule, Myocarditis, Peri... |
ORPHA:533 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Prominent interp... |
OMIM:135900 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria, Bone pain |
OMIM:259900 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Carious teeth, Kyphosis, Flexion contracture, Unsteady gait, Keratoconju... |
ORPHA:90324 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Elevated... |
OMIM:619381 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Clubbing, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid ... |
ORPHA:79128 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricemia |
ORPHA:411536 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Prominent fingertip pads, Joint... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Calcaneovalgus deformity, Prominent fingertip pads, Joint... |
ORPHA:363958 |
Classic Homocystinuria |
|
Dental crowding, Recurrent fractures, Arachnodactyly, Joint stiffness, Kyphosis, Osteoporosis, Ge... |
ORPHA:394 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Bone pain, Rickets |
OMIM:612089 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, At... |
OMIM:277900 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Pneumonia, Ab... |
ORPHA:79404 |
Cockayne Syndrome B |
|
Mandibular prognathia, Small for gestational age, Ataxia, Delayed eruption of primary teeth, Cari... |
OMIM:133540 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Cryptorc... |
OMIM:300960 |
Keutel Syndrome |
|
Recurrent otitis media, Recurrent sinusitis, Calcification of cartilage, Short distal phalanx of ... |
ORPHA:85202 |
Zttk Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Kyphosis, Submucous cl... |
OMIM:617140 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Srd5A3-Cdg |
|
Ataxia, Kyphosis, Abnormal sacrum morphology, Oligodontia, Palmoplantar keratoderma |
ORPHA:324737 |
15Q14 Microdeletion Syndrome |
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Acne, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philt... |
ORPHA:261190 |
Cdags Syndrome |
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Sagittal craniosynostosis, Kyphosis, Cleft palate, Short clavicles, Lambdoidal craniosynostosis, ... |
OMIM:603116 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Oral ulcer, Arthritis, Iritis |
OMIM:109650 |
Blau Syndrome |
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Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Retrobulbar optic neur... |
ORPHA:90340 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Pallister-Killian Syndrome |
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Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Congenit... |
OMIM:601803 |
Interstitial Granulomatous Dermatitis With Arthritis |
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Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentration, Rheu... |
ORPHA:79099 |
Oculodentodigital Dysplasia |
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Camptodactyly of finger, External ear malformation, Cranial hyperostosis, Abnormality of the ear,... |
ORPHA:2710 |
Classical Ehlers-Danlos Syndrome |
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Osteopenia, Abnormality of the temporomandibular joint, Phalangeal dislocation, Osteoarthritis, G... |
ORPHA:287 |
Fabry Disease |
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Hyperlipidemia, Thick lower lip vermilion, Abnormal femur morphology, Reduced bone mineral densit... |
ORPHA:324 |
Sitosterolemia 1 |
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Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Hyperchole... |
OMIM:210250 |
Simple Cryoglobulinemia |
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Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ... |
ORPHA:91139 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Bone pain, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
Glycogen Storage Disease Ia |
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Decreased muscle mass, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Pancreatitis |
OMIM:232200 |
Familial Mediterranean Fever |
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Pericarditis, Skin rash, Orchitis, Pancreatitis, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
Femoral-Facial Syndrome |
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Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Single transverse palmar crease, High, narrow palate, Abnormal curvature of the verteb... |
OMIM:619475 |
Catastrophic Antiphospholipid Syndrome |
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Myocarditis, Avascular necrosis, Arthritis |
ORPHA:464343 |
Hereditary Spherocytosis |
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Ataxia, Hyperbilirubinemia, Maculopapular exanthema, Gout |
ORPHA:822 |
Proteus Syndrome |
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Decreased muscle mass, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinoda... |
ORPHA:744 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
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Gout |
OMIM:618061 |
Cowden Syndrome 5 |
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Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Furr... |
OMIM:615108 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Enamel hypoplasia, Pterygium, Oral mucosal blisters |
ORPHA:79403 |
Ramon Syndrome |
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Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis, Decreased b... |
OMIM:266270 |
Micro Syndrome |
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Joint stiffness, Micrognathia, Kyphosis, Cryptorchidism, High palate, Short philtrum, Scoliosis |
ORPHA:2510 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Short neck, Cleft lip, Kyphosis, Hemivertebrae, Cleft palate, Narrow palate, Contracture of the p... |
OMIM:618223 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Elevate... |
ORPHA:49041 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Mandibular prognathia, Thin upper lip vermilion, Osteoarthritis, Skeletal muscle hypertrophy |
OMIM:619714 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased circulating ferritin concentratio... |
OMIM:615846 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflammation of the ... |
ORPHA:906 |
Hyper-Igd Syndrome |
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Skin rash, Lymphadenitis, Oral ulcer, Arthritis, Chronic oral candidiasis, Serositis |
OMIM:260920 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Kyphosis, High palate, Short philtrum, Radial deviation of finger, Malar flattening... |
OMIM:609944 |
Selective Igm Deficiency |
|
Chronic oral candidiasis, Fasciitis, Non-infectious meningitis, Allergic rhinitis, Hashimoto thyr... |
ORPHA:331235 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Osteoporosis, Oral ulcer, Gout, Inflammation of the large intestine, Hyperuricemi... |
OMIM:232220 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Clubbing, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation of the lar... |
OMIM:181000 |
Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Elevated circulating creatine kinase concentration, Protruding ... |
ORPHA:2388 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Increased femoral anteversion, High pala... |
OMIM:619005 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Furr... |
OMIM:615109 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Hyperuricemia, Gout |
OMIM:603860 |
Mgat2-Cdg |
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Osteopenia, Dental crowding, Kyphosis, Scoliosis, Open mouth, Failure to thrive, Brachydactyly |
ORPHA:79329 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Uveitis, Conjunctivitis, Abnormal vertebral morphology, Abnormal dental enamel morphology, Crypto... |
ORPHA:2273 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Elevated circulating creatinine concentration, Hyperuricemia, Gout |
ORPHA:79233 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Joint stiffness, Narrow mouth, Kyphosis, Cryptorchidism, Obesity, Spinal... |
ORPHA:1606 |
Atelis Syndrome 2 |
|
Sacral dimple, Single transverse palmar crease, Micrognathia, Diastema, Kyphosis, Thick lower lip... |
OMIM:620185 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Joint stiffness, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Scolios... |
OMIM:230500 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Joint hyperflexibility, Hyperuricemia, Arthritis |
ORPHA:93111 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Limitation of joint mobility, Temporomandibular joint ankylosis... |
ORPHA:580 |
Alexander Disease |
|
Osteopenia, Ataxia, Facial palsy, Short neck, Hyperlordosis, Kyphosis, High palate, Gait disturba... |
ORPHA:58 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Osteolysis, Osteochondrosis |
ORPHA:2396 |
Lesch-Nyhan Syndrome |
|
Hip dislocation, Choreoathetosis, Hyperuricemia, Podagra, Testicular atrophy |
OMIM:300322 |
Autoimmune Lymphoproliferative Syndrome |
|
Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, ... |
ORPHA:3261 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Enamel hypoplasia, Psoriasiform dermatitis, Enterocolitis |
OMIM:243150 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Fucosidosis |
|
Decreased muscle mass, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebr... |
ORPHA:349 |
Plague |
|
Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Unsteady gait,... |
ORPHA:707 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Gout, Hyperproteinemia, Increased circulating renin le... |
ORPHA:90041 |
Marburg Hemorrhagic Fever |
|
Back pain, Pericarditis, Skin rash, Maculopapular exanthema, Elevated circulating creatine kinase... |
ORPHA:99826 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hemivertebrae, Femoral bowing, Decreased circulating renin level, Hyponatremia, Arachnodactyly, C... |
OMIM:201750 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Furr... |
OMIM:158350 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Gamma-Heavy Chain Disease |
|
Skin rash, Osteolysis, Rheumatoid arthritis, Neoplasm of the tongue, Abnormal palate morphology |
ORPHA:100026 |
Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e... |
ORPHA:35706 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Truncal obesity |
OMIM:219080 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis |
ORPHA:761 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis |
ORPHA:99867 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecysti... |
ORPHA:2331 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Joint stiffness |
OMIM:230600 |
Dermatomyositis |
|
Pericarditis, Myocarditis, Weight loss, Inflammatory myopathy, Arthritis, Chondrocalcinosis |
ORPHA:221 |
Gitelman Syndrome |
|
Rhabdomyolysis, Hypermagnesemia, Gout, Tubulointerstitial nephritis, Hypokalemia, Hypocalcemia, H... |
ORPHA:358 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Osteopor... |
OMIM:309583 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral muc... |
ORPHA:536 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Cryptorchidism, High palate, Shor... |
OMIM:619244 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hyperuricemia, Gout |
OMIM:174000 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis, Secondary amenorrhea, Truncal obesity |
OMIM:610489 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Bone pain, Rickets, Increased susceptibility to fractures, Reduced bone mineral den... |
ORPHA:18 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Limb hypertonia |
OMIM:619909 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Delayed skeletal maturation, Rickets, Reduced bone mineral density, Hig... |
OMIM:613658 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, O... |
ORPHA:286 |
Sotos Syndrome |
|
Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Chronic otitis medi... |
ORPHA:821 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity, Pancreatitis |
OMIM:610475 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa... |
OMIM:619472 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Kyphosis, Athetosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis, Dysmetria, Ankle clonus, Lower limb hypertonia, Dysdiadochokinesis, Difficulty walking,... |
ORPHA:171629 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the large intestine, Hyperuricemia, S... |
OMIM:232240 |
Subcorneal Pustular Dermatosis |
|
Pustule, Rheumatoid arthritis |
ORPHA:48377 |
Postencephalitic Parkinsonism |
|
Kyphosis, Open mouth, Camptocormia, Akinesia |
ORPHA:97349 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis |
ORPHA:589 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Neurofibromatosis Type 1 |
|
Ataxia, Recurrent fractures, Joint stiffness, Kyphosis, Cryptorchidism, Genu valgum, Slender long... |
ORPHA:636 |
Cerebrocostomandibular Syndrome |
|
Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Tracheomalaci... |
ORPHA:1393 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Digeorge Syndrome |
|
Patellar dislocation, Scoliosis, Intervertebral disc degeneration |
OMIM:188400 |
Aspartylglucosaminuria |
|
Joint laxity, Acne, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, Thick low... |
OMIM:208400 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Kyphosis, Unsteady gait, Myopathy, Cholecystitis, Failure to thrive |
OMIM:615512 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Pneumonia, Myocarditis, Hyperkalemia, Hypocalcemia, Septic arthritis, Pancreatitis,... |
ORPHA:544482 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Widely spaced teeth, Accelerated skeletal maturation |
OMIM:300942 |
Weill-Marchesani Syndrome 2 |
|
Joint stiffness, Delayed skeletal maturation, Elbow flexion contracture, Thickened helices, Flexi... |
OMIM:608328 |
Spondyloocular Syndrome |
|
Osteopenia, Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Thin bony c... |
OMIM:605822 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Elevated circulating alpha-fetoprot... |
ORPHA:116 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Weight loss, Failure to t... |
ORPHA:95427 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Furrowed tongue, Macroglossia, Palmoplantar keratoderma, High palate, Scoliosis... |
ORPHA:201 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weight loss, Arthri... |
ORPHA:99921 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness |
OMIM:277600 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia, Gout, Reduced sperm motility |
OMIM:137920 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Chronic... |
ORPHA:227990 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Chronic... |
ORPHA:227982 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Recurrent pneumonia, Pneumonia, Calcification of cartilage |
ORPHA:3348 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Thin bony cortex |
OMIM:612731 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Delayed skeletal maturation, Rickets, Genu valgum |
OMIM:219800 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Rhabdomyosarcoma, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal ... |
ORPHA:97685 |
Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex, Hearing impairment |
OMIM:619727 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia |
ORPHA:93598 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Conjunctivitis |
OMIM:153400 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis, Decreased body weight |
OMIM:182210 |
Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Accelerated skeletal maturation, Hypoplasia of t... |
ORPHA:64 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis, Aspiration pneumonia |
OMIM:619482 |