Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Acrocapitofemoral Dysplasia |
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Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
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 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Eiken Syndrome |
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Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
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 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Brachyolmia Type 1, Hobaek Type |
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Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Acromesomelic Dysplasia 2A |
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Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... |
OMIM:200700 |
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 |
Fibular Hemimelia |
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Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Syndactyly Type 4 |
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Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Osebold-Remondini Syndrome |
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Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Immunodeficiency 8 |
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Hyperactivity |
OMIM:615401 |
Parastremmatic Dwarfism |
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Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Lethal Faciocardiomelic Dysplasia |
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Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... |
ORPHA:1972 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Leri-Weill Dyschondrosteosis |
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Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Spondyloepiphyseal Dysplasia Congenita |
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Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Sm... |
ORPHA:94068 |
Hyperlysinemia, Type I |
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Hyperlysinemia, Hyperactivity |
OMIM:238700 |
Pseudoachondroplasia |
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Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Insulin-Like Growth Factor I Deficiency |
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Osteopenia, Hyperactivity |
OMIM:608747 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Decreased fibular diameter, Flexion contracture, Short femur, Short ribs, Micrognathia, Flared me... |
OMIM:616897 |
Femoral-Facial Syndrome |
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Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, I... |
ORPHA:1988 |
Acromesomelic Dysplasia, Maroteaux Type |
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Beaking of vertebral bodies, Kyphosis, Joint stiffness, Brachydactyly, Scoliosis, Abnormal form o... |
ORPHA:40 |
Metatropic Dysplasia |
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Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... |
OMIM:156530 |
Langer Mesomelic Dysplasia |
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Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Genu valgum, Small epiphyses, Short long bone, Advanced ossification of carpal bones, Coxa valga,... |
OMIM:618363 |
Léri-Weill Dyschondrosteosis |
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Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Thanatophoric Dysplasia Type 1 |
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Kyphosis, Wide anterior fontanel, Joint stiffness, Atrial septal defect, Short femur, Femoral bow... |
ORPHA:1860 |
Acromesomelic Dysplasia 2C |
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Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Winchester Syndrome |
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Broad metacarpals, Kyphosis, Hirsutism, Generalized osteoporosis, Carpal osteolysis, Osteolysis i... |
OMIM:277950 |
Congenital Disorder Of Glycosylation, Type Ig |
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Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Short ribs, Hypoplasia of the radius... |
OMIM:607143 |
Acromesomelic Dysplasia, Grebe Type |
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Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Slc35A2-Cdg |
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Talipes equinovarus, Craniosynostosis, Short tibia, Aplasia/hypoplasia involving bones of the ext... |
ORPHA:356961 |
Epiphyseal Dysplasia, Multiple, 1 |
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Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... |
OMIM:132400 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
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Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... |
OMIM:609324 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Diastrophic Dysplasia |
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Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Sm... |
OMIM:222600 |
Atelosteogenesis Type Ii |
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Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbel... |
ORPHA:56304 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Short femur, Scoliosis, Amelia, Ventricular septal defect, Omphalocele, Foot oligodactyly |
OMIM:601357 |
Spondyloepiphyseal Dysplasia Tarda |
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Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Atelosteogenesis, Type I |
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Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Flattened femoral head, Coxa vara, Hip contracture, Hump-shaped mound of bone in central and post... |
ORPHA:99642 |
Weismann-Netter Syndrome |
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Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
Short Rib-Polydactyly Syndrome |
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Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... |
ORPHA:1505 |
Ivic Syndrome |
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Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Scheuermann Disease |
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Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly, Short thumb |
OMIM:618453 |
Pseudoachondroplasia |
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Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
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Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... |
OMIM:183849 |
Osteomesopyknosis |
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Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
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Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Familial Scheuermann Disease |
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Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Heart Defects-Limb Shortening Syndrome |
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Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Mesomelic/rhizomelic limb short... |
ORPHA:1354 |
Paget Disease Of Bone 2, Early-Onset |
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Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Femoral bowing, Fr... |
OMIM:602080 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Small for gestational age,... |
OMIM:618392 |
Zimmermann-Laband Syndrome 3 |
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Short distal phalanx of finger, Kyphosis, Long hallux, Hypertrichosis, Thick eyebrow, Low anterio... |
OMIM:618658 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Kyphosis, Pes cavus, Scoliosis |
OMIM:617087 |
Mental Retardation, X-Linked 82 |
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Kyphosis, Scoliosis |
OMIM:300518 |
Desbuquois Dysplasia 1 |
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Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
Metatropic Dysplasia |
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Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger... |
ORPHA:2635 |
Pelviscapular Dysplasia |
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Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Orofaciodigital Syndrome Type 10 |
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Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Atelosteogenesis Type I |
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Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... |
ORPHA:1159 |
Brachyolmia Type 1, Toledo Type |
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Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... |
OMIM:271630 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
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Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnormal metaphysis morp... |
ORPHA:93359 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... |
ORPHA:166011 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Kyphosis, Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bilateral hip dis... |
ORPHA:85288 |
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 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Kyphosis, Hirsutism, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation |
OMIM:300434 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Tibial Hemimelia |
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Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
Stuve-Wiedemann Syndrome 1 |
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Sparse hair, Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal i... |
OMIM:601559 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
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Hip contracture, Kyphosis, Talipes equinovarus, Scoliosis, Hyperlordosis, Proximal lower limb amy... |
OMIM:600175 |
Hypoplastic Femurs And Pelvis |
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Hypoplastic pelvis, Short femur |
OMIM:619545 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
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Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Pes cavus, Scoliosis |
OMIM:611225 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Kyphosis, Sclerosis of skull base, Hyperextensibility of the finger joints, Plat... |
OMIM:313420 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Kyphosis, Scoliosis, Osteoporosis, Hypertrophic cardiomyopathy |
OMIM:618234 |
Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Atrophic scars, Hip dislocation, Distal joint laxity |
OMIM:616471 |
Weismann-Netter Syndrome |
|
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... |
OMIM:112350 |
Bruck Syndrome 1 |
|
Coxa vara, Hip contracture, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... |
OMIM:259450 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:600081 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Progressive Pseudorheumatoid Dysplasia |
|
Coxa vara, Kyphoscoliosis, Joint stiffness, Enlarged metacarpophalangeal joints, Joint contractur... |
OMIM:208230 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Femoral bowing, Short neck, 11 pairs of ribs, Micromelia, Long foot, Platyspondyl... |
OMIM:210710 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Abnormal hair quantity, Pulmoni... |
ORPHA:3098 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Platyspondyly,... |
OMIM:234250 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... |
ORPHA:93316 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Congenital hip dislocation, Ove... |
OMIM:618291 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... |
ORPHA:85198 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Flexion contracture, Micrognathia, Short neck, Camptodactyly, Arthrogryposis multiplex ... |
OMIM:618393 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis, Dilated car... |
OMIM:300718 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Cervi... |
OMIM:301900 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin bony cortex, Hypoplasia of ... |
ORPHA:75508 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... |
ORPHA:157965 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs... |
OMIM:201170 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fin... |
ORPHA:3409 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Slender fi... |
OMIM:609813 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Short neck... |
OMIM:251230 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Bowing of the legs, Hirsutism, Kyphoscoliosis, Platyspondyly, Brac... |
OMIM:612847 |
Ruvalcaba Syndrome |
|
Kyphosis, Inguinal hernia, Small hand, Micromelia, Short phalanx of finger, Scoliosis, Limited el... |
OMIM:180870 |
Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Mic... |
ORPHA:56305 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Premature os... |
OMIM:130060 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Kyphosis, Talipes equinovarus, Pes cavus, Hyporeflexia of lower limbs, Scoliosis... |
OMIM:615290 |
Holt-Oram Syndrome |
|
Kyphosis, Joint stiffness, Anomalous pulmonary venous return, Atrial septal defect, Hypoplastic l... |
ORPHA:392 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... |
OMIM:211350 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Hypoplastic acetabulae, Kyphosi... |
OMIM:607326 |
Diastrophic Dysplasia |
|
Kyphosis, Joint stiffness, Hypoplastic cervical vertebrae, Increased bone mineral density, Microg... |
ORPHA:628 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Talipes equinovarus, Hand clenching, Areflexia of lower limbs, Micrognathia, Short neck... |
OMIM:611890 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... |
OMIM:223800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... |
OMIM:184252 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Tapered finger, Foot joint contracture, Talipes equinovarus, Flexion... |
ORPHA:536516 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Lipoatrophy, Abnormal hair quantity, Reduced bone minera... |
ORPHA:2617 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Spinal canal stenosi... |
ORPHA:289176 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Short neck, Platyspondyly, Scolios... |
ORPHA:582 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:241530 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Platy... |
OMIM:259440 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Kyphosis, Flexion contracture, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:618237 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Atrial septal defect, Joint contracture of the hand, Inguinal hernia, Small for gestati... |
ORPHA:352490 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebrae, Short ne... |
OMIM:253000 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Shashi-Pena Syndrome |
|
Kyphosis, Atrial septal defect, Scoliosis, Osteoporosis, Highly arched eyebrow |
OMIM:617190 |
Omodysplasia 1 |
|
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Pes cavus, Congenital hip dislocat... |
OMIM:300280 |
Ck Syndrome |
|
Slender build, Kyphosis, Micrognathia, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint... |
OMIM:300831 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Slender finger, Increased laxity of fingers, Adducted thumb, Flexion contracture, Micro... |
ORPHA:75840 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Wide anterior fontanel, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Microgna... |
OMIM:617925 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Constricted i... |
OMIM:253010 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Obesity, Hip dislocation |
OMIM:616756 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Clinodactyly of the 5th finger, Genu recurvatum, Joint sti... |
ORPHA:137834 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Low anterior hairline, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia... |
OMIM:609128 |
Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Coarse hair, Abnormality of the pubic bone, Humerus varus, Down-slopin... |
ORPHA:198 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Talipes equinovar... |
OMIM:609945 |
Widow'S Peak Syndrome |
|
Kyphosis, Inguinal hernia, Arthralgia/arthritis, High iliac wing, Arthralgia of the hip, Hip oste... |
OMIM:314570 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Kniest Dysplasia |
|
Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Umbilical hernia, Dumbbell-shaped long... |
OMIM:156550 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Wide anterior fontanel, Inguin... |
OMIM:610915 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis, Tapered finger, Large hands, Obesity |
ORPHA:276630 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... |
OMIM:259420 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Hypopigmentation of hair, Osteoporosis, Albinism |
ORPHA:2786 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wi... |
OMIM:252605 |
Achondroplasia |
|
Rhizomelia, Short long bone, Spinal canal stenosis, Narrow greater sciatic notch, Hip joint hyper... |
ORPHA:15 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... |
OMIM:300554 |
Bruck Syndrome |
|
Kyphosis, Joint stiffness, Recurrent fractures, Talipes equinovarus, Platyspondyly, Scoliosis, Os... |
ORPHA:2771 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive, Hip dysplasia |
OMIM:620007 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Scoliosis, Osteop... |
ORPHA:48431 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Talipes equinovarus, Flexion contracture... |
OMIM:618484 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Failure to thrive, Kyphosis, Joint stiffness, Short neck, Genu valgum, Hern... |
ORPHA:583 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Short toe, Hypergonadotropic hypogonadism, Brachydactyly, Hyperlordosis, Keloids, Secon... |
ORPHA:3085 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Ulnar deviation of finger, Ventricular septal defect, Bowing of the long ... |
OMIM:121050 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Schaaf-Yang Syndrome |
|
Kyphosis, Thick eyebrow, Flexion contracture, Small hand, Brachydactyly, Scoliosis, Tapered finge... |
OMIM:615547 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Carpenter Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Po... |
ORPHA:65759 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Sparse eyebrow, Tricuspid stenosis, Short neck, Hypoplasia of the capital femoral epiphysis, Vent... |
OMIM:143095 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... |
ORPHA:1427 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of th... |
ORPHA:3082 |
Masa Syndrome |
|
Kyphosis, Talipes equinovarus, Adducted thumb, Pes cavus, Hyperlordosis |
OMIM:303350 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Inguinal hernia, Small for gestational a... |
OMIM:615834 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Flexion contracture of finger, Left ventricular hypertrophy, Sandal gap, Elbow flexion ... |
OMIM:619040 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Reduced bone mineral density, Short neck, Abnormal hair pattern, Spina bifida occulta, ... |
ORPHA:2983 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
15Q24 Microdeletion Syndrome |
|
Failure to thrive, Kyphosis, Abnormality of toe, Congenital diaphragmatic hernia, Small for gesta... |
ORPHA:94065 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypo... |
OMIM:230650 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... |
OMIM:618019 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Thanatophoric Dysplasia |
|
Kyphosis, Joint stiffness, Atrial septal defect, Platyspondyly, Micromelia, Brachydactyly, Abnorm... |
ORPHA:2655 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Areflexia of lower limbs, Pes cavus, Scoliosis, Split hand, Obesity, Premature ovarian ... |
OMIM:618124 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Failure to thrive,... |
ORPHA:289157 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of ... |
ORPHA:3454 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Abnormality of the humerus, Genu valgum, Hypogonadism, Abnormal ... |
ORPHA:1328 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d... |
OMIM:307800 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... |
OMIM:245160 |
Shox-Related Short Stature |
|
Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum, Short foot,... |
ORPHA:314795 |
Becker Nevus Syndrome |
|
Kyphosis, Lipoatrophy, Supernumerary nipple, Micromelia, Scoliosis, Abnormality of tibia morpholo... |
ORPHA:64755 |
Marinesco-Sjogren Syndrome |
|
Failure to thrive, Kyphosis, Flexion contracture, Hypergonadotropic hypogonadism, Scoliosis, Pes ... |
OMIM:248800 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis, Hypoplastic iliac wing, Hip d... |
ORPHA:1858 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Broad proximal phalanges of the hand, Scoliosis, Hallux valgus, Synophrys |
ORPHA:505652 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Short neck, Platyspondyly, Anterior beaking of lumbar vertebrae, Genu valgum, Umbili... |
OMIM:253220 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Thick eyebrow, Scoliosis, Truncal obesity, Synophrys, Thick hair, Low posterior hairline |
ORPHA:2429 |
Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Micrognat... |
OMIM:108721 |
Clark-Baraitser syndrome |
|
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Joint laxity, Obesity, Short palm |
OMIM:300602 |
Alpha-Mannosidosis |
|
Kyphosis, Inguinal hernia, Short neck, Scoliosis, Arthritis, Synostosis of joints, Hypoplastic in... |
ORPHA:61 |
Czech Dysplasia |
|
Irregular vertebral endplates, Coxa vara, Short toe, Limitation of joint mobility, Flat capital f... |
OMIM:609162 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Frontal upswe... |
OMIM:619797 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Rhizomelia, Omphalocele, Dumbbell-shaped long bone, Short long bone, C... |
OMIM:228520 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Low anterior hairline, Postaxial polydactyly, Micrognathia, Broad distal phalanx of fin... |
OMIM:615761 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Broad distal phal... |
OMIM:300990 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Kyphosis, Joint stiffness, Scoliosis |
ORPHA:1548 |
Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... |
OMIM:300009 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Thick eyebrow, Congenital h... |
ORPHA:2616 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Clinodactyly, Arthrogryposis multiplex cong... |
ORPHA:178148 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Short ribs, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot,... |
OMIM:263520 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Inguinal hernia, Membranous subvalvular aortic stenosis, Micrognathia, Short neck, Syno... |
ORPHA:3191 |
Pelger-Huet Anomaly |
|
Failure to thrive, Kyphosis, Pes cavus, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal... |
OMIM:169400 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity |
OMIM:239500 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Ankle clonus, Scoliosis, Short foot |
OMIM:617435 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Short neck, Short femoral neck, Scoliosis, Clinodactyly, Proximal femora... |
OMIM:113500 |
Atkin-Flaitz Syndrome |
|
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Joint laxity, Obesity, Short palm |
OMIM:300431 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Joint hyperflexibility, Hypogonadism |
ORPHA:1875 |
Faciocardiomelic Dysplasia, Lethal |
|
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal dea... |
OMIM:227270 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Highly arched eyebrow |
OMIM:609384 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Adducted thumb, Arachnodactyly, Shoulder dislocation, Scoliosis, Umbilical hernia, Join... |
ORPHA:2181 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Sandhoff Disease |
|
Failure to thrive, Kyphosis |
ORPHA:796 |
Ruvalcaba Syndrome |
|
Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Con... |
ORPHA:3121 |
Rothmund-Thomson Syndrome Type 1 |
|
Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Alopecia totalis, Hyp... |
ORPHA:221008 |
Gm1 Gangliosidosis |
|
Platyspondyly, Ventricular septal defect, Abnormal epiphysis morphology, Abnormal metaphysis morp... |
ORPHA:354 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short nail, Short neck, 11 pairs of ribs, Platy... |
OMIM:271640 |
Spondyloepiphyseal Dysplasia Congenita |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... |
OMIM:183900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Thin metacarpal cortices, C1-C2 subluxation, Thin bony cortex, Osteolysis involving t... |
OMIM:259600 |
Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Dentinogenesis imperfecta, Osteopenia, Scoliosis, Biconcave vertebral ... |
OMIM:610968 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hypomelanosis Of Ito |
|
Kyphosis, Alopecia, Syndactyly, Scoliosis, Radial deviation of finger, Clinodactyly, Hand polydac... |
OMIM:300337 |
Rothmund-Thomson Syndrome |
|
Abnormal dental enamel morphology, Infertility, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sm... |
ORPHA:2909 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Atrial septal defect, Platyspondyly, Brachydactyly, Micromelia, Joint hyperflexibility,... |
ORPHA:93274 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Frontal upsweep of hair, Ventricular septal defect, Genu valgum, Joint hypermobility |
OMIM:617798 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Cachexia, Pes cavus, Down-... |
ORPHA:85293 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Split foot, Hypoplasia of the rad... |
ORPHA:958 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... |
OMIM:304950 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Inguinal hernia |
OMIM:261550 |
Stickler Syndrome, Type I |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Spondylolisthesis, Arachnodactyly, Microg... |
OMIM:108300 |
4Q21 Microdeletion Syndrome |
|
Kyphosis, Generalized hirsutism, Small hand, Short neck, Micromelia, Scoliosis, Long eyelashes, S... |
ORPHA:238750 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Hajdu-Cheney Syndrome |
|
Abnormal cardiac septum morphology, Short nail, Foot acroosteolysis, Osteopenia, Short neck, Bico... |
OMIM:102500 |
Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Thick eyebrow, Brachydactyly, Sc... |
ORPHA:3219 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse hair, Osteopenia, Atlantoaxial abnormality, Cervical ... |
ORPHA:3455 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Pes cavus, Scoliosis |
ORPHA:101075 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Inguinal hernia, Osteoporosis, Pedal edema, Umbilical hernia |
ORPHA:87876 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Slender build, Failure to thrive, Kyphosis, Talipes equinovarus, Spinal rigidity, Flexion contrac... |
OMIM:254090 |
Baralle-Macken Syndrome |
|
Kyphosis, Hirsutism, Tapered finger, Pes planus, Obesity |
OMIM:619255 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98855 |
Rothmund-Thomson Syndrome Type 2 |
|
Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Alopecia totalis, Abn... |
ORPHA:221016 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal cementum morphology, Abnormal trabecular bone morphology, Abno... |
ORPHA:83451 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Hurler Syndrome |
|
Calvarial hyperostosis, Short neck, Hypoplasia of the femoral head, Biconcave vertebral bodies, C... |
OMIM:607014 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse eyebrow, Alopecia, Short neck, Long foot, Talipes equ... |
OMIM:264090 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Failure to thrive, Kyph... |
ORPHA:420794 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Kyphosis, Small hand, Pes cavus, Brachydactyly, Pes planus, Sandal gap, Short ... |
OMIM:300354 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Failure to thrive, Kyphosis, Recurrent fractures, Increased bone mineral density, Osteopenia, Sho... |
OMIM:239000 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Lumbar hyperlordosis, Talipes equinovarus, Facial hirsutism, Aplasia/Hypo... |
ORPHA:2839 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Femoral bowing present at birth, straig... |
OMIM:166220 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Flexion contracture, Micrognathia, Scoliosis, Osteoporosis, Lipodystrophy, Hypogonadism |
OMIM:615381 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Pycnodysostosis |
|
Rhizomelia, Spondylolisthesis, Increased bone mineral density, Micrognathia, Scoliosis, Hyperlord... |
ORPHA:763 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Kyphosis, Joint hyperflexibility |
ORPHA:319199 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... |
ORPHA:140 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Recurr... |
OMIM:231070 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Coarse hair, Short neck, Biconcave vertebral bodies, Ventricular septal defect, Osteo... |
ORPHA:955 |
Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
3C Syndrome |
|
Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Aortic valve stenosis, Hypoplas... |
ORPHA:7 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Distichiasis, Kyphosis, Scoliosis |
ORPHA:2598 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short nail, Femoral bowing, Short 1st metacarpal, 11 pairs of... |
OMIM:114290 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Sparse hair, Brittle hair, Arachnodactyly, Camptodactyly of finger, Coarse hair, Scolio... |
ORPHA:1883 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Vertebral fusion,... |
OMIM:606612 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Toe clinodactyly, Atrial septal ... |
ORPHA:254346 |
Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Vertebral segmentat... |
ORPHA:2911 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal dental enamel morphology, Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebra... |
ORPHA:2916 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Tapered finger, Ventricular septal defect, Abnormality of fibula morphology, Sandal g... |
ORPHA:251014 |
Weaver Syndrome |
|
Sparse hair, Prominent fingertip pads, Short fourth metatarsal, Flared humeral metaphysis, Flared... |
OMIM:277590 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Pes cavus, Scoliosis |
ORPHA:101078 |
Mend Syndrome |
|
Overlapping toe, Kyphosis, 2-3 toe syndactyly, Aortic valve stenosis, Microretrognathia, Overlapp... |
OMIM:300960 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Flexion contracture, Short femur, Short humerus, Polydactyly, Patent ductus ar... |
ORPHA:17 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... |
ORPHA:3035 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Arachnodactyly, Kyphosis, Joint laxity |
OMIM:248760 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
8Q24.3 Microdeletion Syndrome |
|
Abnormal cricoid cartilage morphology, Atrioventricular canal defect, Congenital hip dislocation,... |
ORPHA:508488 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Congenital diaphragma... |
ORPHA:2311 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Small for gestational age, Platyspondyly, Limb undergrowth, A... |
OMIM:166210 |
Dysostosis, Stanescu Type |
|
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Mic... |
ORPHA:1798 |
Mcdonough Syndrome |
|
Kyphosis, Micrognathia, Cachexia, Scoliosis, Synophrys |
ORPHA:2471 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Pes cavus, Scoliosis |
OMIM:610743 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Osteopenia, Hammertoe, Phalangeal dislocation, Ventral hernia, Sandal gap, Umbilical he... |
ORPHA:536532 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Ventricular septal defect, Bowing of the long bones, Short long bone, Double outlet r... |
OMIM:249420 |
Flynn-Aird Syndrome |
|
Kyphosis, Joint stiffness, Bone cyst, Alopecia, Cachexia, Scoliosis |
ORPHA:2047 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, S... |
ORPHA:175 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Hypertrichosis, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Joint stiffn... |
OMIM:230500 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Bowing of the long bones, Omphalocele, Carpal synostosis, Inc... |
ORPHA:90652 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Ankle clonus, Pes cavus, Scoliosis |
OMIM:614409 |
Crisponi Syndrome |
|
Kyphosis, Flexion contracture, Micrognathia, Camptodactyly of finger, Scoliosis, Limitation of jo... |
ORPHA:1545 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Cone-shaped epiphyses of the phalanges of the hand, Coarse hair, Osteol... |
OMIM:309350 |
Hemifacial Atrophy, Progressive |
|
Poliosis, Kyphosis, Patchy alopecia, Short mandibular rami |
OMIM:141300 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Failure to thrive, Kyphosis, Short neck, Hip dislocation, Per... |
OMIM:608776 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop... |
OMIM:609441 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Severe platyspondyly, Sacral dimple, Narrow greater sciatic notch, Increased in... |
ORPHA:508533 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Trisomy 20P |
|
Coarse hair, Short neck, Platyspondyly, Umbilical hernia, Vertebral segmentation defect, Thick ey... |
ORPHA:261318 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Flexion contracture, Micrognathia, Short neck, Scoliosis, Genu varum, ... |
ORPHA:171436 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed tarsal ossification,... |
OMIM:600002 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Hypertrichosis, Scoliosis, Synophrys |
ORPHA:85317 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Distal Tetrasomy 15Q |
|
Kyphosis, Atrial septal defect, Flexion contracture, Craniosynostosis, Arachnodactyly, Micrognath... |
ORPHA:314588 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Kyphoscoliosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Split foot, ... |
OMIM:200980 |
Cole-Carpenter Syndrome |
|
Kyphosis, Recurrent fractures, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Jo... |
ORPHA:2050 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Hirsutism, Clinodactyly of the 5th finger, Atrial septal defect, 2-3 toe syndactyly, Th... |
OMIM:617061 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Vertebral segmentation defect, Kyphosis, Clinodactyly of the 5... |
ORPHA:1005 |
Lateral Meningocele Syndrome |
|
Kyphosis, Bicuspid aortic valve, Sclerosis of skull base, Inguinal hernia, Micrognathia, Coarse h... |
OMIM:130720 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, 2-3 toe syndactyly, Secundum atrial septal defect, Supernumerary nipple, Joint hypermob... |
OMIM:619951 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Thigh hypertrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Dilated cardiomyo... |
OMIM:607155 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... |
OMIM:608571 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Talipes equinovarus, Flexion contracture, Pes cavus, Scoliosis, Hyperlordosis |
OMIM:255200 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Talipes equinovarus, Joint hypermobility, Hyperextensibility of the finger joints, Scol... |
OMIM:617821 |
Emanuel Syndrome |
|
Kyphosis, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal ... |
OMIM:609029 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Hirsutism, Hypertrichosis, Thick eyebrow, Short neck, Long eyelashes, Synophrys, Widow'... |
OMIM:616455 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Kyphosis, Microretrognathia, Talipes equinovarus, Flexion contracture, Short nec... |
OMIM:301041 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle weakness, Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Hyperlordosis, Cl... |
OMIM:181405 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Genu recurvatum, Pulmonic stenosis, Arachnodactyly, Hyperextensibility of the finger jo... |
OMIM:609008 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Slender finger, Small hand, Micrognathia... |
OMIM:618443 |
Marden-Walker Syndrome |
|
Kyphosis, Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal he... |
OMIM:248700 |
Wieacker-Wolff Syndrome |
|
Kyphosis, Talipes equinovarus, Congenital foot contractures, Micrognathia, Short neck, Scoliosis,... |
OMIM:314580 |
Cleidocranial Dysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses, Spondylolisthesis, In... |
OMIM:119600 |
Cousin Syndrome |
|
Facial hirsutism, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of the 5th fin... |
OMIM:260660 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Infertility, Failure to thrive, Kyphosis, Atrial septal defect, Flexion contra... |
ORPHA:398069 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Cardiomyopathy, Limitation of joint mobility, Abnormal heart morphology |
ORPHA:79327 |
Trisomy 13 |
|
Ectrodactyly, Kyphosis, Atrial septal defect, Scoliosis, Ventricular septal defect, Postaxial han... |
ORPHA:3378 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Joint stiffness, Scoliosis, Abnormal dental enamel morphology |
ORPHA:816 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Microretrognathia, Dentinogenesis imperfecta, Coronal craniosynostosis, Osteopenia, Pla... |
OMIM:616294 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Short neck, Micromelia, Platyspondyly, Long eyelashes in irregular... |
ORPHA:800 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Atrial septal defect, Postaxial polydactyly, Ventricular septal def... |
OMIM:603387 |
Coffin-Lowry Syndrome |
|
Short distal phalanx of finger, Abnormal mitral valve morphology, Kyphosis, Abnormal aortic valve... |
ORPHA:192 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Structural foot deformity, Scoliosis, Hip dislocation, Obesity |
ORPHA:464282 |
Cohen Syndrome |
|
Tapered finger, Ventricular septal defect, Genu valgum, Long eyelashes, Sandal gap, Failure to th... |
ORPHA:193 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Abnormal... |
ORPHA:2769 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Down-sloping shoulders, Short neck, Ulnar deviation of finger, Umbil... |
OMIM:265000 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Kyphosis, Dilated cardiomyopathy, Spinal rigidity |
OMIM:615084 |
Prader-Willi Syndrome |
|
Osteopenia, Primary amenorrhea, Genu valgum, Failure to thrive in infancy, Abdominal obesity, Hyp... |
OMIM:176270 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, 2-3 toe syndactyly, Low anterior hairline, Postaxial polydactyly, Micrognathia, Broad d... |
ORPHA:404440 |
Marshall-Smith Syndrome |
|
Hypertrichosis, Short sternum, Slender finger, Prominent fingertip pads, Sparse hair, Distal wide... |
OMIM:602535 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Abnormal eyebrow morphology, Impotence, Kyphosis, Lumbar hyperlordosis, Sparse eyebr... |
ORPHA:2232 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Abnorm... |
ORPHA:1788 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Isochromosomy Yq |
|
Azoospermia, Male infertility |
ORPHA:98798 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Omphalocele, Clinodactyly of the 5th finger, Talipes equinovarus, Trac... |
OMIM:300373 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Kyphosis, Scoliosis, Long foot |
OMIM:300676 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Fused cervical v... |
ORPHA:2522 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Femoral bowing, Osteopenia, Micromelia, Biconcave vertebral bodi... |
ORPHA:666 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Calf muscle hypertrophy, Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Abnormal hair morphology, Talipes equinovarus, Hand oligodactyly, Camptodactyly of... |
OMIM:206920 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... |
OMIM:114000 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal defect, Short f... |
OMIM:134780 |
Kleefstra Syndrome 2 |
|
Kyphosis, Thick eyebrow, Scoliosis |
OMIM:617768 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Kyphosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Micrognathia, Sc... |
ORPHA:476126 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Short neck, Decreased c... |
OMIM:276820 |
Mucolipidosis Type Ii |
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Abnormal mitral valve morphology, Craniosynostosis, Decreased movement range in interphalangeal j... |
ORPHA:576 |
Mgat2-Cdg |
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Failure to thrive, Hirsutism, Kyphosis, Osteopenia, Brachydactyly, Scoliosis, Hypoplastic nipples... |
ORPHA:79329 |
Lateral Meningocele Syndrome |
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Kyphosis, Craniofacial hyperostosis, Inguinal hernia, Micrognathia, Short neck, Scoliosis, Abnorm... |
ORPHA:2789 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Kyphosis, Pes cavus, Scoliosis |
ORPHA:99014 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Reduced subcutaneous adipose tissue, Kyphosis, Lipoatrophy, Craniosynostosis, Arachnodactyly, Hyp... |
OMIM:616914 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Kyphosis, Hirsutism, Scoliosis, Synophrys |
OMIM:300861 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Neuropathic spinal arthropathy, Dilate... |
ORPHA:352447 |
Fucosidosis |
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Kyphosis, Failure to thrive, Lipoatrophy, Anterior beaking of lumbar vertebrae, Cardiomegaly |
ORPHA:349 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Osteopetrosis, Metaphyseal widening, Platyspondyly, Kyphosis |
OMIM:618476 |
Seckel Syndrome 1 |
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Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5... |
OMIM:210600 |
Koolen-De Vries Syndrome |
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Failure to thrive, Bicuspid aortic valve, Abnormality of hair texture, Atrial septal defect, Slen... |
OMIM:610443 |
Atypical Rett Syndrome |
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Small hand, Kyphosis, Scoliosis, Short foot |
ORPHA:3095 |
Harrod Syndrome |
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Failure to thrive, Kyphosis, Arachnodactyly, Scoliosis, Abnormal shoulder morphology, Abnormal pe... |
ORPHA:2115 |
Fibular Dimelia-Diplopodia Syndrome |
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Sacrococcygeal teratoma, Absent tibia |
ORPHA:1757 |
Spastic Paraplegia 53, Autosomal Recessive |
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Kyphosis, Hypertrichosis, Joint hyperflexibility |
OMIM:614898 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Gaucher Disease Type 1 |
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Kyphosis, Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Pedal ... |
ORPHA:77259 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Kyphosis, Femoral retroversion, Micromelia, Scoliosis, Hypoplastic scapulae |
ORPHA:79107 |
Genitopalatocardiac Syndrome |
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Abnormal cardiac septum morphology, Kyphosis, Congenital diaphragmatic hernia, Micrognathia, Brac... |
ORPHA:2075 |
Oncogenic Osteomalacia |
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Abnormality of femur morphology, Tibial bowing, Fibrous dysplasia of the bones, Pathologic fractu... |
ORPHA:352540 |
Robinow Syndrome, Autosomal Dominant 3 |
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Short neck, Kyphosis, Micrognathia, Hypoplastic right heart, Brachydactyly, Short phalanx of fing... |
OMIM:616894 |
Wolf-Hirschhorn Syndrome |
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Abnormal cardiac septum morphology, Sacral dimple, Talipes equinovarus, Micrognathia, Abnormality... |
ORPHA:280 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Platyspondyly, Mesomelia, Rhizomelia |
OMIM:616482 |
Dent Disease |
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Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Sparse bone trabec... |
ORPHA:1652 |
Pontocerebellar Hypoplasia, Type 17 |
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Kyphosis, Low anterior hairline, Secundum atrial septal defect, Microretrognathia, Ventricular se... |
OMIM:619909 |
Lenz-Majewski Hyperostotic Dwarfism |
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Elbow ankylosis, Symphalangism affecting the phalanges of the hand, Hypogonadism, Abnormal metaph... |
ORPHA:2658 |
Megalocornea-Intellectual Disability Syndrome |
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Kyphosis, Micrognathia, Osteopenia, Scoliosis, Genu varum, Tapered finger, Metatarsus valgus, Joi... |
ORPHA:2479 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Kyphosis, Abnormal cardiac septum morphology, Scoliosis, Sparse hair |
OMIM:616449 |