Multiple Epiphyseal Dysplasia Type 1 |
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Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Pseudoachondroplasia |
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Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Epiphyseal Dysplasia, Multiple, 1 |
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Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... |
OMIM:132400 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
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Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ab... |
ORPHA:166002 |
Mueller-Weiss Syndrome |
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Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... |
ORPHA:566943 |
Epiphyseal Dysplasia, Multiple, 5 |
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Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Platyspondyly, Micromelia, Upper limb undergrowth, Hypoplastic pelvis, Genu valgum, Abnormal epip... |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Platyspondyly, Arthralgia of the hip, Difficulty walking, Hip subluxation, Dysplasia of the femor... |
ORPHA:99642 |
Tubular Aggregate Myopathy |
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EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Progressive Pseudorheumatoid Dysplasia |
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Enlarged metacarpophalangeal joints, Platyspondyly, Difficulty walking, Sclerotic vertebral endpl... |
OMIM:208230 |
Epiphyseal Dysplasia, Multiple, 3 |
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Epiphyseal dysplasia, Delayed epiphyseal ossification, Osteoarthritis, Irregular epiphyses, Abnor... |
OMIM:600969 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Femoral bowing, Platyspondyly, Hyposegmentation of neutrophil nuclei, Broad hallux, Genu valgum, ... |
OMIM:618019 |
Osteochondrosis Of The Metatarsal Bone |
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Abnormality of the third metatarsal bone, Joint stiffness, Progressive joint destruction, Thicken... |
ORPHA:564003 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Double-layered patel... |
ORPHA:166011 |
Brachydactylous Dwarfism, Mseleni Type |
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Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... |
ORPHA:2619 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal humeral metaphysis morphology, Platyspondyly, Difficulty walking, Premature osteoarthrit... |
ORPHA:93314 |
Epiphyseal Dysplasia, Multiple, 6 |
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Irregular vertebral endplates, Flat capital femoral epiphysis, Flat distal femoral epiphysis, Ost... |
OMIM:614135 |
Epiphyseal Dysplasia, Multiple, 2 |
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Broad-based gait, Epiphyseal dysplasia, Irregular epiphyses, Flattened epiphysis, Genu varum, Ost... |
OMIM:600204 |
Pseudoachondroplasia |
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Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Acrocapitofemoral Dysplasia |
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Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Hypochondroplasia |
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Abnormality of femur morphology, Short toe, Macrocephaly, Osteoarthritis, Brachydactyly, Genu var... |
ORPHA:429 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Osteochondrosis Of The Tarsal Bone |
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Chondritis, Antalgic gait, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Pedal edema, F... |
ORPHA:563991 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
Desbuquois Dysplasia 1 |
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Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... |
OMIM:251450 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Eiken Syndrome |
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Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
Familial Avascular Necrosis Of Femoral Head |
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Flattened femoral head, Abnormal femoral neck/head morphology, Hip osteoarthritis, Limited hip mo... |
ORPHA:86820 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
Dysspondyloenchondromatosis |
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Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Limitation of joint mobility, Talipes equinovarus, Short femur, Und... |
OMIM:211350 |
Thoracomelic Dysplasia |
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Short ribs, Hyperlordosis, Gait disturbance, Abnormality of fibula morphology, Genu valgum, Limb ... |
ORPHA:1803 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
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Kyphoscoliosis, Flexion contracture, Severe failure to thrive, Micrognathia, Flared metaphysis, M... |
OMIM:215100 |
Beukes Hip Dysplasia |
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Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu... |
OMIM:142669 |
Spinal Muscular Atrophy, Type Iv |
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Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Ulnar Hemimelia |
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Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Multiple Epiphyseal Dysplasia Type 4 |
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Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Grant Syndrome |
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Large face, Joint dislocation, Abnormality of the glenoid fossa, Micrognathia, Facial asymmetry, ... |
ORPHA:2097 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormally ossified vertebrae, Platyspondyly, Biconcave vertebral bodies, Arthralgia of the hip, ... |
ORPHA:93284 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
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Enlarged joints, Bowing of the legs, Lumbar hyperlordosis, Limited elbow extension, Limb undergro... |
ORPHA:156728 |
Kyphomelic Dysplasia |
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Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vertebral bodies, ... |
ORPHA:1801 |
Albers-Schönberg Osteopetrosis |
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Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Macrocephaly, Oste... |
ORPHA:53 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
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Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Hip subluxation, Premature oste... |
ORPHA:93360 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
Metaphyseal Acroscyphodysplasia |
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Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... |
ORPHA:1240 |
Fibular Hemimelia |
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Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Chondroectodermal Dysplasia With Night Blindness |
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Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Oti... |
ORPHA:319195 |
Multiple Epiphyseal Dysplasia Type 5 |
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Joint stiffness, Decreased hip abduction, Multiple small vertebral fractures, Osteoarthritis of t... |
ORPHA:93311 |
Spondyloepiphyseal Dysplasia Congenita |
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Abnormally ossified vertebrae, Platyspondyly, Upper limb undergrowth, Genu valgum, Small epiphyse... |
ORPHA:94068 |
Al-Gazali Syndrome |
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Recurrent fractures, Failure to thrive, Bilateral talipes equinovarus, Proximal radio-ulnar synos... |
OMIM:609465 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Ga... |
ORPHA:2501 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
Solitary Bone Cyst |
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Lytic defects of the radius, Muscular edema, Abnormal humeral diaphysis morphology, Abnormality o... |
ORPHA:83468 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Otospondylomegaepiphyseal Dysplasia |
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Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Flared femoral metaphysis, Sandal ... |
ORPHA:1427 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Gne Myopathy |
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EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Central Core Disease Of Muscle |
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Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Rhizomelic Chondrodysplasia Punctata |
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Microcephaly, Scoliosis, Spina bifida occulta, Flat face, Limb undergrowth, Rhizomelia, Abnormal ... |
ORPHA:177 |
Myopathy, Distal, With Rimmed Vacuoles |
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Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
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Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... |
OMIM:105835 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
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Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... |
ORPHA:63442 |
Schwartz-Jampel Syndrome, Type 1 |
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Quadriceps muscle weakness, Congenital hip dislocation, Micromelia, Platyspondyly, Anterior bowin... |
OMIM:255800 |
Metaphyseal Acroscyphodysplasia |
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Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Micro... |
ORPHA:93346 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Dysplasia Epiphysealis Hemimelica |
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Flattened femoral head, Abnormality of femur morphology, Joint stiffness, Abnormal femoral neck m... |
ORPHA:1822 |
Myopathy, Centronuclear, 1 |
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Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
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Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Developmental Dysplasia Of The Hip 2 |
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Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis |
OMIM:615612 |
Tibial Muscular Dystrophy |
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Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Ptosis |
OMIM:614750 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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High palate, Pectus excavatum, Prominent sternum, 11 pairs of ribs, Sandal gap, Clinodactyly of t... |
OMIM:617877 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
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Lumbar hyperlordosis, Osteoarthritis, Brachydactyly, Broad hallux, Hip osteoarthritis, Osteochond... |
OMIM:165800 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Horizontal sacrum, Depressed nasal bridge, Short neck, Microme... |
OMIM:256050 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Brachyolmia Type 1, Hobaek Type |
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Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Osteopenia, Scoli... |
OMIM:271530 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Osteoarthritis, Brachydactyly |
OMIM:618618 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Desbuquois Dysplasia 2 |
|
Cutaneous syndactyly, Monkey wrench femoral neck, Platyspondyly, Single transverse palmar crease,... |
OMIM:615777 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormal form o... |
ORPHA:1802 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Flat face, Genu valgum, Short f... |
OMIM:614078 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... |
OMIM:156530 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the fi... |
OMIM:313420 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
Bone Dysplasia, Lethal Holmgren Type |
|
Abnormality of femur morphology, Metaphyseal dysplasia, Failure to thrive, Joint dislocation, Sho... |
ORPHA:1842 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Joint swelling, Osteoarthritis, Eczema, Deviation of finger, Abnormality of tibi... |
ORPHA:1525 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Dysostosis Multiplex, Ain-Naz Type |
|
Hemivertebrae, Wide humerus, Scoliosis, Coarse facial features, Glenoid fossa hypoplasia, Elongat... |
OMIM:619345 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... |
OMIM:130060 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, Platyspondyly, Micromelia, 11 pairs of ribs, Long foot, Single transverse palmar ... |
OMIM:210710 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, S... |
OMIM:201000 |
Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyly, Limitation of joint mobility |
ORPHA:2762 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Abnormality of the hand, Osteoarthritis, Brachydactyly, Scoliosis, Abnormality of the ... |
ORPHA:1657 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... |
OMIM:604864 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... |
ORPHA:2741 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Large face, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the... |
ORPHA:2831 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Enlarged epiphyses, Epiphyseal dysplasia, Platyspondyly, Premature osteoarthritis |
OMIM:184840 |
Spondylocarpotarsal Synostosis Syndrome |
|
Broad face, Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasia, Carpal synostos... |
OMIM:272460 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Ankle clonus, Atla... |
OMIM:600561 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Carpal synostosis, Talipes equinovar... |
OMIM:615349 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormal pelvis bone morphology, Osteoarthritis, Obesity, Palmoplantar keratoderma |
ORPHA:2206 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Osteoarthritis of the small joints of the hand, Costal cartilage calcification, Chondrocalcinosis... |
OMIM:118610 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Osteopenia, Flared ... |
OMIM:616897 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Genu valgum, Small epiphyses, Round face, Short long bone, Advanced ossification of carpal bones,... |
OMIM:618363 |
Hypochondroplasia |
|
Macrocephaly, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremities, Flared metaphysis, Bra... |
OMIM:146000 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Premature osteoa... |
ORPHA:93352 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... |
OMIM:184255 |
Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Micrognathia, Platyspondyly, Flat face, Genu... |
ORPHA:250984 |
Al-Raqad Syndrome |
|
Inability to walk, Microcephaly, Brachydactyly, Sandal gap, Joint laxity, Unsteady gait, Flat face |
OMIM:616459 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Round face, Coxa valga... |
OMIM:132450 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metacarpal heads, Osteoarthritis, Flattened metatarsal heads, Platyspondyly, Hip osteoa... |
OMIM:271600 |
Hand And Foot Deformity With Flat Facies |
|
Metacarpophalangeal joint contracture, Abnormal foot morphology, Flat face, Contractures of the i... |
OMIM:139750 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... |
OMIM:166600 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Peripheral Dysostosis |
|
Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing... |
ORPHA:1795 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Macrocephaly, Multiple rib fractures, Micrognathia, Micromelia, Short foot, ... |
ORPHA:93299 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Fatigable weakness of swallowing muscles, Weakness of facial mus... |
ORPHA:596 |
Widow'S Peak Syndrome |
|
Kyphosis, Recurrent patellar dislocation, Abnormality of the hand, High iliac wing, Arthralgia of... |
OMIM:314570 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Ataxia, Failure to thrive, Sea-blue histiocytosis, Beaking of vertebral bodies, ... |
OMIM:230600 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Limited knee flexion/extension, EMG: myopathic abnormalit... |
ORPHA:266 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
Emery-Nelson Syndrome |
|
Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Abnormal thumb mor... |
ORPHA:1927 |
Achondrogenesis Type 1B |
|
Macrocephaly, Talipes equinovarus, Micrognathia, Micromelia, Abnormal rib morphology, Short foot,... |
ORPHA:93298 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... |
OMIM:605809 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Type 2 muscle fiber atrophy, F... |
OMIM:254210 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short long bone, Flexion contracture, Short humerus, Brachydactyly, Flat face, Bowed humerus, Tri... |
OMIM:619479 |
Myasthenic Syndrome, Congenital, 5 |
|
Type 2 muscle fiber atrophy, Fatigable weakness, Prolonged miniature endplate currents, Limb musc... |
OMIM:603034 |
Myasthenic Syndrome, Congenital, 15 |
|
Multiple joint contractures, Fatigable weakness, Ptosis |
OMIM:616227 |
Mesomelic Limb Shortening And Bowing |
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Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Respira... |
ORPHA:1505 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Bilateral talipes equinovarus, Hy... |
OMIM:618022 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
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Macrocephaly, Brachydactyly, Short foot, Abnormal facial shape, Short palm, Facial hypotonia, Fla... |
OMIM:618522 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Gombo Syndrome |
|
Microcephaly, Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Congenital ... |
OMIM:255310 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Kyphosis, Talipes equinovarus, Paucity of anterior horn motor neurons, Retrognat... |
OMIM:611890 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short m... |
OMIM:215150 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Limitation of movement at ankles, Scapular winging, Incre... |
ORPHA:437572 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Talipes equinovarus, Micrognathia, Flat face, Anisospondyly, Bowing of the long bones, Short long... |
OMIM:224410 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis, Proximal femoral epiphysiolysis |
OMIM:182260 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... |
OMIM:307800 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... |
OMIM:607850 |
Dysostosis, Stanescu Type |
|
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Macroglossia, M... |
ORPHA:1798 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
EEG abnormality, Gliosis, Abnormal upper motor neuron morphology, Peripheral demyelination, Axona... |
OMIM:221770 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Microretrognathia, Small for gestational age, Multiple rib fractures, Osteop... |
OMIM:616229 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Upper limb undergrowth,... |
ORPHA:93315 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Paraspinal muscle hypertrophy, Lumbar hyperlordosis, Congenital foot contracture... |
OMIM:602484 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Flat face, Epiphyseal stippling |
OMIM:614859 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Intrinsic hand muscle atrophy, Type 2 muscle fiber atrophy, Hand muscle atrophy, Fatigable weakne... |
OMIM:601462 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Limitation of joint mobility, Joint contracture of the han... |
OMIM:224400 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Depressed nasal ridge, Retrognathia, Micrognathia, Delayed cranial suture c... |
ORPHA:1832 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Macroc... |
ORPHA:140 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pairs of ribs, Oval face, Gen... |
OMIM:271640 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination |
DECIPHER:59 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Micrognathia, Microcephaly, Rocker bottom foot, Arthrogryposis multiplex con... |
OMIM:616570 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Wide anterior fontanel, Macrocephaly, Kyphosis, Short femur, Femoral bowing, Hyp... |
ORPHA:1860 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes eq... |
ORPHA:1988 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601098 |
Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Skeletal muscle hypertrophy, Asym... |
ORPHA:3101 |
Rigid Spine Muscular Dystrophy 1 |
|
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Flexion contrac... |
OMIM:602771 |
Thanatophoric Dysplasia |
|
Joint stiffness, Kyphosis, Macrocephaly, Platyspondyly, Brachydactyly, Micromelia, Abnormal ilium... |
ORPHA:2655 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Overlapping fingers, Congenital... |
OMIM:618291 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral... |
ORPHA:85435 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
Achondrogenesis, Type Ib |
|
Short ribs, Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral bodies, Flat face |
OMIM:600972 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Macrocephaly, Short femur, Hypoplastic ilia, Congenital hip dislocation... |
ORPHA:93333 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Reduced bone mineral density, Brachydactyly, Scoliosis, Abnormal ... |
ORPHA:2370 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Small... |
OMIM:618484 |
Null Syndrome |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... |
ORPHA:280234 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:241530 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... |
OMIM:183849 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Macrocephaly, Talipes equinovarus, Abnormal cartilage matrix, Hypoplastic... |
ORPHA:2347 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Macrocephaly, Microretrognathia, Calcification of cartilage, Tri... |
ORPHA:2867 |
Spondyloepiphyseal Dysplasia Congenita |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Delayed calcaneal ossification, P... |
OMIM:183900 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Broad-based gait, Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, ... |
OMIM:616716 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thenar muscle atrophy, Abnormal bone ossification, Hypoplasia of the musculature, Eunuchoid habit... |
ORPHA:2463 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Optic atrophy, Centrally nucleated skeletal muscl... |
ORPHA:401768 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology, Abnormal epiphysis ... |
ORPHA:90653 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Macrocephaly, Metaphyseal ... |
OMIM:300863 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly, Abnormal facial shape, Flat face |
OMIM:616006 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Fibrochondrogenesis 1 |
|
Platyspondyly, Rhizomelia, Posterior rib cupping, Dumbbell-shaped long bone, Short long bone, Wid... |
OMIM:228520 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... |
ORPHA:208981 |
Wiedemann-Steiner Syndrome |
|
Broad-based gait, Failure to thrive, Short toe, Clinodactyly of the 5th finger, Short phalanx of ... |
OMIM:605130 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short neck, Micromelia, Severe platyspondyly, Short long bone, Cardiomegaly, Dysplastic sacrum, M... |
OMIM:613320 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Macrocephaly, Large iliac wing, Increased bone mineral density, Osteopetrosis, Delayed cranial su... |
ORPHA:2780 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Macrocephaly, Metaphyseal irregularity, Flexion contracture, Ab... |
OMIM:613330 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Decreased miniature endplate potentials, Arthrogryposis multiplex co... |
OMIM:608930 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Broad... |
OMIM:311300 |
Trichorhinophalangeal Syndrome, Type I |
|
Flat capital femoral epiphysis, Cone-shaped epiphyses of the middle phalanges of the hand, Osteop... |
OMIM:190350 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... |
OMIM:162500 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... |
OMIM:605253 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... |
OMIM:609324 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Microretrognathia, Arachnodactyly, Microcephaly, Camptodactyly of... |
ORPHA:2994 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... |
OMIM:618728 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... |
OMIM:300580 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Broad face, Cone-shaped epiphysis, Upper limb undergrowth, Broad hallux, Caudal in... |
ORPHA:439822 |
Alpha-Mannosidosis |
|
Kyphosis, Macrocephaly, Macroglossia, Splenomegaly, Scoliosis, Coarse facial features, Chronic ot... |
ORPHA:61 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... |
OMIM:602080 |
Stickler Syndrome, Type Iv |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Genu valgum, Flat face, Irregular capital f... |
OMIM:614134 |
16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, T... |
ORPHA:261243 |
Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis, Brachydactyly, Short thumb |
ORPHA:435804 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Loss of ambulation, Microphthalmia, Metaphyseal widening, ... |
ORPHA:2788 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Dyggve-Melchior-Clausen Disease |
|
Inability to walk, Broad carpal bones, Platyspondyly, Abnormality of the ankles, Hypoplasia of th... |
ORPHA:239 |
8P23.1 Microdeletion Syndrome |
|
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Taper... |
ORPHA:251071 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis |
ORPHA:1937 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Macrocephaly, Craniosynostosis, Osteopenia, Talipes equinovalgus, Radioulnar synostosis, Single t... |
OMIM:130070 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, De... |
OMIM:618961 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Joint dislocation, Abnormal ossification involving the femoral head and neck... |
ORPHA:1190 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... |
ORPHA:53697 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Broad thumb, R... |
OMIM:619638 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Limitation of joint mobility, Cachexia, Camptodactyly of finger, Micrognathia, Slender long bone,... |
ORPHA:2774 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Failure to thrive, Flexion contracture, Osteopenia, Microcephaly, ... |
OMIM:222765 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Ptosis, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial ... |
OMIM:619566 |
Codas Syndrome |
|
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Joint hyperflexibility, Scoli... |
ORPHA:1458 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Platyspondyly, Abnormal rib morphology, Rhizomelia, Abnormal epiphysis morphology, ... |
ORPHA:93267 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Macrocephaly, Metaphyseal cupping, Severe limb shortening, Thin ribs, Decreased cranial base ossi... |
OMIM:151210 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Limitation of joint mobility, Talipes equinovarus, Flexion contracture, Short... |
ORPHA:1865 |
King-Denborough Syndrome |
|
Failure to thrive, Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type ... |
OMIM:619542 |
Odontochondrodysplasia |
|
Respiratory distress, Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shape... |
ORPHA:166272 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Genu recurvatum, Narrow face, Pes planus, Joint laxity, Bilateral microphthalmos, Hip dislocation... |
OMIM:608763 |
Benign Samaritan Congenital Myopathy |
|
Epicanthus, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Inability to walk, Congenital diaphragmatic hernia, Metatarsal osteo... |
OMIM:166300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of neck muscles, Triceps weakness, EMG: myopathic abnormalities, Facial palsy,... |
ORPHA:98913 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Wide anterior fontanel, Talipes equinovarus, Flat face, Epiphyseal stippling |
OMIM:614872 |
Fetal Trimethadione Syndrome |
|
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Micrognathia, Sco... |
ORPHA:1913 |
Diabetic Embryopathy |
|
Vertebral segmentation defect, Hydrocephalus, Cleft palate, Microtia, Micrognathia, Aplasia/Hypop... |
ORPHA:1926 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Platyspondyly, Micromelia, Smal... |
OMIM:184260 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Abnormal metacarpal morphology, Osteoarthritis, Micrognathia |
ORPHA:166100 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ptosis |
ORPHA:270 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Craniosynostosis, Osteopenia, Metacarpophalangeal joint hyperextensibility, Platyspondyly, 11 pai... |
OMIM:245600 |
Mucopolysaccharidosis Type 7 |
|
Joint stiffness, Abnormal hip bone morphology, Splenomegaly, Anterior beaking of lumbar vertebrae... |
ORPHA:584 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Slender build, Flexion contracture, EMG: myopathic abnormalitie... |
ORPHA:171439 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Short toe, Narrow face, Long face, Microcephaly, Camptodactyly of... |
ORPHA:1327 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... |
ORPHA:157965 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... |
ORPHA:56304 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Cleft palate, ... |
ORPHA:294975 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Failure to thrive, EMG: myopathic abnormalities, Minicore myopathy, ... |
ORPHA:424107 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Knee dislocation, Type 1 muscle fiber predominance, Facial palsy, ... |
ORPHA:178145 |
Achondrogenesis, Type Ia |
|
Bowing of the legs, Short clavicles, Talipes equinovarus, Severe limb shortening, Short ribs, Hyp... |
OMIM:200600 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Skin rash, Anemia, Scoliosis, Palmoplantar pustulosis, Inflammation of the large i... |
ORPHA:324964 |
Short Stature Syndrome, Brussels Type |
|
Delayed epiphyseal ossification, Relative macrocephaly, Microretrognathia, Triangular face |
OMIM:601350 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Microcephal... |
OMIM:619489 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Abnormality of the tongue, Cleft palate, Short neck, Abnormality of the humerus, Rhi... |
ORPHA:3098 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Macrocephaly, Platyspondyly, Brachydactyly, Joint hyperflexibility, Micromelia, Flat fa... |
ORPHA:93274 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Partial duplication of thumb phalanx, Broad palm, Abnormal hand morphology, Large for gestational... |
OMIM:601165 |
Laron Syndrome |
|
Short toe, Micrognathia, Osteoarthritis, Brachydactyly, Truncal obesity, Abnormal facial shape, A... |
ORPHA:633 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Mucolipidosis Type Iii |
|
Joint stiffness, Large iliac wing, Reduced bone mineral density, Abnormal hip bone morphology, Ab... |
ORPHA:577 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radiu... |
OMIM:607143 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ptosis, Ragged-red muscle fibers |
OMIM:609283 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Arthritis, Sacroiliac |
|
Sacroiliac arthritis |
OMIM:108100 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Microcephaly, Hypoplasia of the ulna, Aplasia/Hypoplasia ... |
OMIM:612447 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia, Radioulnar ... |
OMIM:164900 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abnormality of the d... |
OMIM:182290 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Microcephaly, Polydactyly, Flat face |
OMIM:616910 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Bicuspid aortic valve, Protruding ear, Clinodactyly of the 5th finger, ... |
OMIM:618619 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow face, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, Ab... |
ORPHA:1529 |
Abruzzo-Erickson Syndrome |
|
Short toe, Brachydactyly, Ulnar deviation of finger, Radioulnar synostosis, Flat face, Toe syndac... |
ORPHA:921 |
Larsen Syndrome |
|
Short distal phalanx of finger, Laryngotracheomalacia, Vertebral segmentation defect, Large joint... |
ORPHA:503 |
Achondrogenesis |
|
Macrocephaly, Micrognathia, Micromelia, Abnormality of bone mineral density, Abnormal enchondral ... |
ORPHA:932 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Recurrent fractures, Bowing of the arm, Platyspondyly, Osteoporosi... |
OMIM:619131 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Flared metaphysis, Plat... |
OMIM:601561 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Atopic dermatitis, Congenital hip dislocation, Scoliosis, Limited elbow ext... |
OMIM:619719 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Uveitis, Ankle swelling, Knee osteoarthritis, Enthesitis, Weight loss, Joint stiff... |
ORPHA:85408 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... |
OMIM:601438 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Ventricular septal de... |
OMIM:231060 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... |
OMIM:612474 |
Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Bone cyst, Macroglossia, Abnormal tendon morphology, Abnormal... |
ORPHA:85446 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Talipes equinovarus, Adducted thumb, Talipes equinovalgus, Overlapping fingers, Brachy... |
OMIM:618435 |
Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Macrocephaly, Abnormal hip bone morphology, Broad distal phalanx ... |
ORPHA:93430 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Macrocephaly, Long face, Facial asymmetry, Micrognathi... |
ORPHA:1777 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Platyspondyly, Micromelia, Genu valgum, Abnormal epiphysis morphol... |
ORPHA:800 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... |
ORPHA:2771 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... |
OMIM:226900 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Vertebral clefting, Scoliosis, Patchy distortion of vertebrae, Fl... |
ORPHA:1248 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Cervical ribs, Osteoarthritis |
ORPHA:66630 |
Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Macrocephaly, Femoral bowing, Short 1st metacarpal, 11 pairs ... |
OMIM:114290 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Long face, Micrognathia, Brachydactyly, Camptodactyly, Clinodactyly, Flat face |
OMIM:613604 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Ververi-Brady Syndrome |
|
High palate, Metaphyseal irregularity, Wide mouth, Clinodactyly of the 5th finger, Everted lower ... |
OMIM:617982 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Ataxia, Macrocephaly, Femoral bowing, Osteopenia, Micromelia, Bi... |
ORPHA:666 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Ar... |
OMIM:614856 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Talipes equino... |
ORPHA:536471 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Small for gestational age, Camptod... |
ORPHA:1617 |
Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Short philtrum, Short neck, Ventricular septal defect, Umbilical hernia, Rocker bot... |
OMIM:601808 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Brachydactyly, Sc... |
ORPHA:40 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnormal bone ossification, Slende... |
ORPHA:163649 |
Nemaline Myopathy 2 |
|
Slender build, Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopath... |
OMIM:256030 |
Bethlem Myopathy 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Hip dislocation, Scapular wi... |
OMIM:616471 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... |
ORPHA:1306 |
Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo... |
ORPHA:1423 |
Myasthenic Syndrome, Congenital, 14 |
|
Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red muscle fibers, S... |
OMIM:616228 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... |
ORPHA:93359 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Glio... |
OMIM:604484 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Kyphoscoliosis, Stippled calcification in carpal bones, Postaxial polydactyly,... |
OMIM:302960 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, H... |
OMIM:610967 |
Larsen-Like Syndrome |
|
Wide anterior fontanel, Clinodactyly of the 5th finger, Macrocephaly, Talipes equinovarus, Kyphos... |
OMIM:608545 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Radial d... |
ORPHA:1388 |
Proximal 16P11.2 Microduplication Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Arachnodactyly, Hemivertebrae, Microcephaly, ... |
ORPHA:370079 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Decreased palmar creases, Bilateral talipes equinovarus, Contracture of the proximal interphalang... |
OMIM:612394 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Anomalous pulmonary venous return, Airway obstruction, Chronic sinusitis, Polysple... |
ORPHA:244 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... |
OMIM:617258 |
Monosomy 18Q |
|
High palate, Wide mouth, Hydrocephalus, Pectus excavatum, Short philtrum, Bilateral conductive he... |
ORPHA:1600 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, Tr... |
OMIM:616583 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Microcephaly, Camptodactyly, Round face, Flat face |
OMIM:617333 |
Kniest Dysplasia |
|
Enlarged joints, Respiratory distress, Depressed nasal bridge, Short neck, Platyspondyly, Hypopla... |
OMIM:156550 |
Arthrogryposis, Distal, Type 2A |
|
Flexion contracture of finger, Rocker bottom foot, Talipes equinovarus, Joint dislocation, Scolio... |
OMIM:193700 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Loss of ambulation, Hypogly... |
ORPHA:370968 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... |
OMIM:606070 |
Marfanoid Mental Retardation Syndrome, Autosomal |
|
Arachnodactyly, Flat face |
OMIM:248770 |
Achondroplasia |
|
Hydrocephalus, Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Spinal ca... |
ORPHA:15 |
Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Facial palsy, Torus palatinus, Clavicular sclerosis, Abnormal f... |
ORPHA:2790 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Rhizomelic arm... |
OMIM:223800 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Congenital hip dislocation, Joint laxity, Joint hypermobility, Flat face, Congenital knee disloca... |
OMIM:601450 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Kyphosis, Thin ribs, Micrognathia, De... |
OMIM:259420 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Distal shortening of limbs, Small hand, Osteopenia, Facial asymmetry, Broad femoral neck, Spina b... |
ORPHA:488434 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Ataxia, Dysmetria, Micrognathia, Camptodactyly of finger, Acute rhabdomyolysis, Osteopo... |
ORPHA:48431 |
Stickler Syndrome, Type I |
|
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Arachnodactyly, Micrognathia, Osteoarthri... |
OMIM:108300 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... |
ORPHA:1952 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Hypopl... |
OMIM:602613 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Slender finger, Increased laxity of fingers, Flexion contracture, Adducted thumb, Micro... |
ORPHA:75840 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Talipes equinovarus, Splenomegaly, Stippled chondral calcification, Micrognath... |
OMIM:614866 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Acromesomelic Dysplasia 4 |
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Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Prominent deltoi... |
OMIM:619636 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Abnormal pinna morphology, Pectus excavatum, Osteopenia, Thoracic kyphoscoliosis, Aortic dissecti... |
ORPHA:1900 |
Legg-Calvé-Perthes Disease |
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Cartilage destruction, Joint dislocation |
ORPHA:2380 |
Fibrodysplasia Ossificans Progressiva |
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Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Small cervical vertebral b... |
OMIM:135100 |
Distal Arthrogryposis Type 1 |
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Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlappi... |
ORPHA:1146 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
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Coxa vara, Flattened metacarpal heads, Flattened metatarsal heads, Constrictive pericarditis, Con... |
OMIM:208250 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
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Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
Marinesco-Sjogren Syndrome |
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Failure to thrive, Flexion contracture, Rimmed vacuoles, Cubitus valgus, Centrally nucleated skel... |
OMIM:248800 |
Acromicric Dysplasia |
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Joint stiffness, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Bulbous nose... |
ORPHA:969 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Myopathy, Myosin Storage, Autosomal Recessive |
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EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
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Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation |
OMIM:311070 |
Charcot-Marie-Tooth Disease Type 4G |
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Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Segmental peripheral demyelination/remyelination, Decreased number of peripheral myelinated nerve... |
OMIM:604563 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
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Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Lateral Meningocele Syndrome |
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High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Umbilical hernia, Abnormal... |
OMIM:130720 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
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Abnormal peripheral myelination |
OMIM:147530 |
Ollier Disease |
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Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Abnormal m... |
ORPHA:296 |
Kniest-Like Dysplasia, Lethal |
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Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Relative macrocep... |
OMIM:245190 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
Myopathy, Myofibrillar, 3 |
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Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
22Q11.2 Duplication Syndrome |
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Hypoplastic left heart, Cleft palate, Micrognathia, Scoliosis, Tetralogy of Fallot, Ventricular s... |
ORPHA:1727 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular cana... |
OMIM:306955 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Wide mouth, Talipes equinovarus, Macroglossia, Everted lower lip vermilion, Open mouth, Short nec... |
OMIM:616789 |
Otopalatodigital Syndrome, Type Ii |
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Hydrocephalus, Radial deviation of the 2nd finger, Femoral bowing, Depressed nasal bridge, Congen... |
OMIM:304120 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
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Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
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Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Short fourth metatarsal, Microcephaly, Eczema, Brachydactyly, Abnormal facial shape, Obesity, Pat... |
ORPHA:464288 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Cerebral hemorrhage, Retrognathia, Small hand, Broad finger, Short phalanx of finger, Abnormal le... |
OMIM:300845 |
Hyperekplexia 4 |
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Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodactyly, Distal a... |
OMIM:618011 |
Mucopolysaccharidosis, Type Ivb |
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Pointed proximal second through fifth metacarpals, Wide mouth, Prominent sternum, Hepatomegaly, P... |
OMIM:253010 |
Multiminicore Myopathy |
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Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Min... |
ORPHA:598 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
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Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Brachyolmia Type 1, Toledo Type |
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Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Orofaciodigital Syndrome Xv |
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Broad hallux, Flat face, Postaxial polydactyly |
OMIM:617127 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
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Abnormal femoral neck/head morphology, Oligoarthritis, Abnormal metatarsal morphology, Limited mo... |
ORPHA:85438 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
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Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Diaphragmatic eventration... |
OMIM:614399 |
Hypophosphatasia, Infantile |
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Bowing of the legs, Stillbirth, Metaphyseal cupping, Apnea, Widely patent fontanelles and sutures... |
OMIM:241500 |
Pfeiffer Syndrome |
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Clinodactyly of the 5th finger, Facial asymmetry, Synostosis of carpal bones, Symphalangism affec... |
ORPHA:710 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Abnormal mitral valve morphology, Tooth agenesis, Micrognathia, Brachydactyly, Long thorax, Mesom... |
ORPHA:1277 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Posterior helix pit, Hydrocephalus, Pectus excavatum, Short sternum, Hepatomegaly, Hepatoblastoma... |
OMIM:312870 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Mucolipidosis Ii Alpha/Beta |
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Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... |
OMIM:252500 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Clinodactyly of the 5th finger, Secundum atrial septal defect, Toe clinodactyly, Pectus excavatum... |
OMIM:619910 |
Acromicric Dysplasia |
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Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... |
OMIM:102370 |
Alpha-Mannosidosis, Infantile Form |
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Ataxia, Macrocephaly, Craniosynostosis, Otitis media, Osteopenia, Platyspondyly, Genu valgum, Ost... |
ORPHA:309282 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
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Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... |
OMIM:616809 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Orofaciodigital Syndrome Type 10 |
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Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:610100 |
Distal Myopathy, Tateyama Type |
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Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Respiratory distress, High palate, Hydrocephalus, Prominent fingertip pads, Sandal gap, Anteriorl... |
OMIM:612863 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Accessory oral frenu... |
ORPHA:79113 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
Shox-Related Short Stature |
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Forearm undergrowth, Tibial bowing, Skeletal muscle hypertrophy, Micrognathia, Scoliosis, Genu va... |
ORPHA:314795 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:300554 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
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Prolonged miniature endplate currents, Decreased miniature endplate potentials, Ptosis |
OMIM:616321 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Absent extraocular muscles, Macrocephaly, Rieger anomaly, Hip dislocation, Coxa valga, Flat face |
OMIM:109120 |
Ghosal Hematodiaphyseal Dysplasia |
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Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... |
OMIM:231095 |
Cerebrooculofacioskeletal Syndrome 4 |
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Dislocated radial head, Kyphoscoliosis, Decreased body weight, Adducted thumb, Micrognathia, Micr... |
OMIM:610758 |
Charcot-Marie-Tooth Disease, Type 4D |
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Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
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Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Abnormal me... |
ORPHA:2631 |
Trisomy 8P |
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Multiple joint contractures, Hydrocephalus, Cleft palate, Short fourth metatarsal, Clinodactyly o... |
ORPHA:264450 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
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Distal arthrogryposis, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex c... |
OMIM:208081 |
Metatropic Dysplasia |
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Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |