Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
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Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
Osseous Heteroplasia, Progressive |
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Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid... |
OMIM:619598 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Mazabraud Syndrome |
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Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Osteogenesis Imperfecta, Type Xiv |
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Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... |
OMIM:615066 |
Brachyolmia Type 1, Hobaek Type |
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Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Monosomy 5P |
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Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Short neck, Small hand,... |
ORPHA:281 |
Pseudoachondroplasia |
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Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... |
ORPHA:93351 |
Winchester Syndrome |
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Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Bruck Syndrome 1 |
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Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Osteogenesis Imperfecta, Type Xix |
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Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... |
OMIM:301014 |
Eiken Syndrome |
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Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
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Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Extensor Tendons Of Finger Anomalies |
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Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
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Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... |
OMIM:617974 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
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Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
Spondyloepiphyseal Dysplasia Congenita |
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Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Osteogenesis Imperfecta, Type Ix |
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Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossi... |
OMIM:259440 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Chondroectodermal Dysplasia With Night Blindness |
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Osteopenia, Abnormality of the knee, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, ... |
ORPHA:319195 |
Congenital Disorder Of Glycosylation, Type Iik |
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Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo... |
OMIM:614727 |
Parastremmatic Dwarfism |
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Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
Solitary Bone Cyst |
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Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ... |
ORPHA:83468 |
Osebold-Remondini Syndrome |
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Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
Osteogenesis Imperfecta, Type Xxii |
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Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
Hall-Riggs Syndrome |
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Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... |
OMIM:234250 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Pes planus, Short stature, Recurrent fractur... |
OMIM:610967 |
Calvarial Doughnut Lesions With Bone Fragility |
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Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... |
OMIM:126550 |
Bruck Syndrome |
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Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Osteogenesis Imperfecta, Type Iii |
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Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Forsythe-Wakeling Syndrome |
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Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Decreased body weight |
OMIM:613606 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
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Osteopenia, Osteoporosis |
OMIM:615269 |
Progressive Pseudorheumatoid Dysplasia |
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Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Dispr... |
ORPHA:40 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Bea... |
OMIM:616897 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
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Osteopenia, Recurrent fractures |
OMIM:619884 |
Osteogenesis Imperfecta, Type Xxi |
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Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platysp... |
OMIM:619131 |
Desbuquois Dysplasia 1 |
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Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
Urban-Rogers-Meyer Syndrome |
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Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ... |
ORPHA:3409 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Delayed epiphyseal ossification, Generalized joint laxity, Irregular vertebral endplates, Short p... |
OMIM:132400 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... |
ORPHA:166277 |
Bruck Syndrome 2 |
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Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
Leri-Weill Dyschondrosteosis |
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Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce... |
OMIM:166220 |
Spondyloepiphyseal Dysplasia Tarda |
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Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Odontochondrodysplasia 1 |
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Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Small for gestational a... |
OMIM:616229 |
Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Osteoporosis, Patellar subluxation, Patellar dislocation, Talipes e... |
OMIM:309610 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral talipes equinovaru... |
ORPHA:2958 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:241530 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Isolated Glycerol Kinase Deficiency |
|
Short stature, Osteoporosis, Scoliosis, Hyperlordosis |
ORPHA:408 |
Familial Expansile Osteolysis |
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Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Thin bony cortex |
OMIM:174810 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... |
ORPHA:289157 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... |
OMIM:166210 |
Dysplasia Epiphysealis Hemimelica |
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Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... |
ORPHA:1822 |
Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Micrognathia, Bowing... |
OMIM:613849 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis... |
OMIM:610968 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Short stature, Metaphyseal widening, Osteoporosis,... |
ORPHA:2788 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Ri... |
ORPHA:1988 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Reduced bone miner... |
ORPHA:2410 |
Juvenile Paget Disease |
|
Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,... |
ORPHA:2801 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Abnormal patella morphology, ... |
ORPHA:166002 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Thin... |
OMIM:617952 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Micrognathia, Abno... |
ORPHA:93299 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnor... |
ORPHA:1486 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor... |
ORPHA:93315 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Recurrent fractures, Postnatal growth retardation, Delayed skeletal maturation, 2-3 t... |
ORPHA:2324 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... |
ORPHA:668 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Short stature, Short neck, Osteoporosis, Delayed thelarche, Scoliosis, Delayed puberty |
OMIM:616033 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Obesity, Brachydactyly |
OMIM:612463 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to... |
OMIM:241500 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... |
OMIM:231070 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor... |
ORPHA:2583 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:2786 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal metaphysis morphology, Short stature, Recurrent fractures |
ORPHA:417 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... |
ORPHA:2370 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... |
ORPHA:168555 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... |
OMIM:300554 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Dense metaphyseal bands, Small for gestational age, Short stature, Slender long bones... |
ORPHA:50811 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Bone pain, Recurrent fractures |
ORPHA:329475 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Sh... |
ORPHA:436 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Joint stiffness, Microg... |
ORPHA:1801 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal for... |
ORPHA:93160 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... |
ORPHA:2204 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Severe short stature, Recurrent fractures, Talipes, Oste... |
ORPHA:2078 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... |
OMIM:615349 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... |
OMIM:228600 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ... |
OMIM:607078 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl... |
ORPHA:53 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:71267 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Bowing of the legs, Shor... |
OMIM:255800 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Hypoplastic cer... |
ORPHA:56304 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Intraute... |
ORPHA:48431 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... |
ORPHA:1423 |
Hemidystonia-Hemiatrophy Syndrome |
|
Rhizomelic leg shortening, Dense calvaria, Hemiatrophy |
ORPHA:306741 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... |
OMIM:146300 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnor... |
ORPHA:1803 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ... |
ORPHA:166016 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of... |
OMIM:609813 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex... |
OMIM:184255 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Vertebral compression fracture |
ORPHA:85193 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Failure to thrive, Jo... |
OMIM:600118 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Failure to thrive ... |
ORPHA:356961 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi... |
ORPHA:2176 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno... |
ORPHA:177 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy... |
ORPHA:1782 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate s... |
OMIM:609223 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Multiple small vert... |
OMIM:156510 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to... |
ORPHA:2619 |
Diastrophic Dysplasia |
|
Micromelia, Micrognathia, Proximal placement of thumb, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Mi... |
OMIM:211350 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Pathologic fracture, Bone cyst |
OMIM:618193 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
Perrault Syndrome 1 |
|
Short stature, Osteoporosis, Talipes equinovarus, Scoliosis, Pes cavus |
OMIM:233400 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi... |
OMIM:612447 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con... |
ORPHA:157965 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr... |
OMIM:616583 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Short stature, Bowing of the legs, Disproportionate short-limb short statur... |
ORPHA:156728 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Increased susceptibi... |
ORPHA:561 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... |
ORPHA:93333 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Short stature, Micrognathia, ... |
OMIM:614078 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Short stature, Osteomalacia, Bowing of the legs, Bone pain, Reduced bone mineral density, Growth ... |
ORPHA:157215 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... |
OMIM:239000 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, S... |
OMIM:601559 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,... |
OMIM:151210 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Osteoporosis, Hi... |
OMIM:616507 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Short stature, Hyper... |
OMIM:226980 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis |
OMIM:618234 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypopl... |
OMIM:253000 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... |
OMIM:226900 |
Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Large for gestational age, Coxa valga, Short ... |
OMIM:239850 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Craniosynostosis, Missing ribs, Absent thumb, Humeroradial synostosis, ... |
OMIM:251230 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... |
OMIM:215045 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Pedal edema, Coxa vara, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Disproportionate short... |
OMIM:259410 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe synda... |
OMIM:616809 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Osteoporosis |
OMIM:204730 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, B... |
OMIM:300009 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri... |
OMIM:307800 |
Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
Rothmund-Thomson Syndrome, Type 1 |
|
Delayed skeletal maturation, Osteoporosis, Short stature |
OMIM:618625 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Genu varum, ... |
OMIM:609325 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... |
ORPHA:93356 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
Pycnodysostosis |
|
Micrognathia, Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mi... |
ORPHA:763 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate ribs, Thin ribs, Femora... |
OMIM:618188 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa... |
ORPHA:2848 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Delayed ske... |
ORPHA:73272 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Familial Hyperprolactinemia |
|
Osteopenia, Osteoporosis |
ORPHA:397685 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve... |
ORPHA:577 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Talipes, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, A... |
ORPHA:1836 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Short stature, Re... |
ORPHA:140 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Short stature, Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bo... |
ORPHA:52430 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Micrognathia, C... |
OMIM:214150 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... |
OMIM:616294 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular vertebral endplates, M... |
OMIM:618363 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspond... |
OMIM:619638 |
Ovarian Dysgenesis 1 |
|
Osteoporosis |
OMIM:233300 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Genu valgum |
OMIM:614880 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Delayed skeletal maturation, Hip subluxation, Scoliosis, Reduced bone mineral density |
OMIM:620200 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ... |
ORPHA:2050 |
Ruijs-Aalfs Syndrome |
|
Pes planus, Thoracic kyphoscoliosis, Short stature, Down-sloping shoulders, Micrognathia, Delayed... |
OMIM:616200 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe... |
ORPHA:2769 |
Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti... |
ORPHA:77297 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... |
ORPHA:453510 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Sialidosis Type 2 |
|
Short stature, Kyphosis, Flexion contracture, Osteoporosis, Pedal edema |
ORPHA:87876 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short stature, Short neck, Short toe, Short metatarsal, Osteoporosis, Obesity, ... |
OMIM:103580 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Ankle clonus, Scoliosis, Joint contracture, Pes cavus |
OMIM:611225 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ... |
OMIM:618395 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, De... |
ORPHA:85198 |
Ck Syndrome |
|
Micrognathia, Hyperlordosis, Kyphosis, Abnormal digit morphology, Scoliosis, Abnormal cortical bo... |
OMIM:300831 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Short stature, Osteoporosis, Growth delay, Delayed puberty, Failure to thrive |
ORPHA:369 |
Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal,... |
OMIM:180870 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615270 |
Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis, Weight loss |
ORPHA:100024 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... |
OMIM:607326 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h... |
OMIM:256050 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
Aldh18A1-Related De Barsy Syndrome |
|
Joint hyperflexibility, Hyperextensible skin |
ORPHA:35664 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat... |
OMIM:609324 |
Grange Syndrome |
|
Short palm, Syndactyly, Increased susceptibility to fractures |
ORPHA:79094 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnorma... |
ORPHA:2633 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Achondrogenesis Type 1B |
|
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Dis... |
ORPHA:93298 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascu... |
ORPHA:1901 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ... |
ORPHA:1452 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph... |
OMIM:156400 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Small for gestational age, Short stature, Delayed skeletal maturation, Genu valgum, S... |
OMIM:608154 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility |
OMIM:147060 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Short stature, Delayed skeletal maturation, Osteoporosis, Short long b... |
OMIM:602152 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t... |
ORPHA:3098 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A... |
ORPHA:2639 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Iliac crest serration, Micromelia, Short neck, Wide distal femoral met... |
OMIM:613320 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Growth delay, Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Short stature, Micrognathia, Wide anterior fontanel, Fibular h... |
OMIM:201170 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra... |
OMIM:269250 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Recurrent fractures, Microme... |
OMIM:610682 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... |
ORPHA:1240 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b... |
ORPHA:249 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... |
OMIM:312150 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short ... |
OMIM:605274 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... |
OMIM:313400 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... |
OMIM:612199 |
Menkes Disease |
|
Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intrauterine ... |
OMIM:309400 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615267 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater... |
OMIM:184252 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... |
ORPHA:93307 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Short stature |
OMIM:300484 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Camptodactyly, Neonatal... |
OMIM:618393 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
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Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... |
OMIM:215100 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... |
ORPHA:1354 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... |
OMIM:271225 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con... |
OMIM:600175 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Talipes cal... |
ORPHA:2614 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Vertebral segmentation defect, Abnormal epiphy... |
ORPHA:2631 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Short stature, Recurrent fractures, Reduced bone mineral density, Scoliosis, Joint hypermobility |
OMIM:619115 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Short neck, Accelerated skeletal maturation, Knee dislocation, Shoulder... |
OMIM:245600 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Osteoporosis |
ORPHA:79301 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Micromelia, Osteoarthritis, Platyspondyly, Abnormal epiphysis morpho... |
ORPHA:93283 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... |
OMIM:119600 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Delayed skeleta... |
ORPHA:93324 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Shor... |
ORPHA:3206 |
Spondylo-Ocular Syndrome |
|
Pes planus, Abnormal intervertebral disk morphology, Short stature, Short neck, Osteoporosis, Dis... |
ORPHA:85194 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... |
ORPHA:968 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Micrognathia, S... |
ORPHA:56305 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Short stature, Bowing of the legs |
OMIM:146350 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Sclerotic verte... |
OMIM:611490 |
Bethlem Myopathy 2 |
|
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr... |
OMIM:253290 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis... |
ORPHA:371428 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,... |
OMIM:190351 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Metaphyseal cupping, Genu varum |
OMIM:619073 |
Ollier Disease |
|
Micromelia, Joint stiffness, Bone pain, Osteolysis, Platyspondyly, Abnormal metaphysis morphology |
ORPHA:296 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Obesity, Brachydactyly |
OMIM:612462 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Delayed... |
ORPHA:582 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Cutis laxa, Scoliosis |
OMIM:619451 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Osteoporosis |
OMIM:614838 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... |
OMIM:600972 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Short stature, Avascular necrosis of the capital femoral epiphysis, Delayed skeletal ... |
OMIM:611555 |
Odontochondrodysplasia |
|
Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyp... |
ORPHA:166272 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... |
OMIM:620366 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Wrist pain, Pathologic fracture, Knee pain, Arthralgia of the hip |
ORPHA:314652 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Scoliosis, Cutis laxa |
OMIM:614434 |
Achondrogenesis |
|
Severe short stature, Micromelia, Short neck, Micrognathia, Abnormal enchondral ossification, Abn... |
ORPHA:932 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... |
OMIM:612394 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Camptodactyly of 2n... |
OMIM:609128 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Limitation of joint mobi... |
ORPHA:66627 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Pes planus, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthrit... |
OMIM:618000 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Micrognathia, Short neck... |
ORPHA:251028 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Hyperextensible s... |
ORPHA:300179 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Short neck, Abnormal thumb morphology, Ab... |
ORPHA:1842 |
Maffucci Syndrome |
|
Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Scoliosis |
ORPHA:163634 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Short stature, Camptodactyly of finger, K... |
OMIM:612350 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scoliosis, Biconcave ... |
OMIM:236200 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Genu recurvatum, Micrognathia, Accelerated skeletal maturation, Flexion contracture, ... |
OMIM:130070 |
Immunodeficiency 12 |
|
Short stature, Delayed skeletal maturation, Clubbing, Osteoporosis, Growth delay, Decreased body ... |
OMIM:615468 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Micrognathia, Long fingers, Osteoporosis, Hip dislocation, Growth delay, Hip dysp... |
ORPHA:447980 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal... |
OMIM:163200 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... |
ORPHA:2019 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Brachydactyly, Recurrent fractures, Micrognathia, Hyperextensibility of the kn... |
OMIM:601812 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... |
OMIM:301900 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st... |
ORPHA:2249 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Postnatal growth retardation, Osteoporosis, Scoliosis, Intrauterine growth retardatio... |
ORPHA:2169 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Small for gestational age, Sandal gap, Hypoplasia of the ... |
OMIM:607143 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones... |
ORPHA:85184 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia |
OMIM:258865 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Kyphoscoliosis, Flexion contracture, Cutis laxa, Joint hyperflexibility, Hyperextensi... |
ORPHA:75496 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Recurrent fractures |
OMIM:618107 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Talipes, Recurrent fractures, Lower limb asymmetry, Reduced bone mineral density |
ORPHA:137608 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Short stature, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Obesity, Reduced b... |
ORPHA:2235 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Short stature, Small for gestational age, Kyphosis, Congenital bilateral hip dislocation, Talipes... |
ORPHA:85288 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Lower limb asymmetry, Micrognathia, Postnatal growth retardation, Short foot, Growth ... |
ORPHA:576283 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Generalized joint laxity, Flexion contract... |
ORPHA:536471 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Small for gestational age, Postnatal growth retardation, Congenital knee dislocation, Bilateral t... |
ORPHA:319332 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi... |
OMIM:193700 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Short stature, Limited elbow movement, Joint stiffness, Micrognathia, Flexion ... |
OMIM:614008 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... |
ORPHA:666 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly |
OMIM:611263 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flexion... |
ORPHA:75840 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Joint stiffness, Kyphosis, Delayed skeletal maturation, Scoliosis |
ORPHA:1548 |
Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J... |
ORPHA:90354 |
Rhyns Syndrome |
|
Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Delayed skeletal maturation, Abnorm... |
ORPHA:140976 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,... |
OMIM:616300 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Soft skin, Generalized joint laxity, Hyperextensible skin, Soft, doughy skin, Joint hypermobility |
OMIM:130010 |
Mucolipidosis Iii Gamma |
|
Short stature, Short neck, Flat capital femoral epiphysis, Joint stiffness, Hyperlordosis, Kyphos... |
OMIM:252605 |
Hall-Riggs Syndrome |
|
Short stature, Joint stiffness, Delayed skeletal maturation, Platyspondyly, Abnormal epiphysis mo... |
ORPHA:2107 |
Rafiq Syndrome |
|
Joint laxity, Short neck, Flexion contracture, Obesity, Cutis laxa, Truncal obesity, Joint hyperm... |
OMIM:614202 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Intrauterine growth retardation, Recurrent fractures |
OMIM:620368 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin... |
OMIM:224400 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper... |
ORPHA:96201 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large for gestational age, Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial b... |
ORPHA:96334 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Pathologic fracture, Bone cyst, Abnormal foot morphology |
OMIM:221770 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni... |
ORPHA:536516 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Areflexia of lower limbs, Hip dysplasia, ... |
OMIM:611890 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Bone pain, Hypophosphatemic ... |
OMIM:193100 |
Pontocerebellar Hypoplasia, Type 2E |
|
Short stature, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Failure to thrive |
OMIM:615851 |
Periodontal Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Hyperextensible skin |
ORPHA:75392 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Sh... |
OMIM:102500 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Kyphoscoliosis, Cervical spondylosis, Localized osteoporosis, Lower limb pain |
ORPHA:199354 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor... |
OMIM:309583 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, Scoliosis, Intrauter... |
ORPHA:254531 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Achilles tendon contracture, Decreased pate... |
OMIM:615290 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation... |
ORPHA:77259 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... |
ORPHA:2796 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Platyspondyly,... |
OMIM:230600 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Delayed skeletal maturatio... |
OMIM:608747 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar... |
OMIM:614732 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Short stature, Micromelia, Joint stiffness, Micrognathia,... |
ORPHA:2496 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture |
OMIM:615381 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Rickets, Short stature, Bowing of the legs |
OMIM:615605 |
Progressive Familial Intrahepatic Cholestasis |
|
Delayed skeletal maturation, Failure to thrive, Short stature, Reduced bone mineral density |
ORPHA:172 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati... |
OMIM:156550 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Micrognathia, Kyphosis, Reduced bone mineral density, Vertebral segmentatio... |
ORPHA:2617 |
Rin2 Syndrome |
|
Pes planus, Increased susceptibility to fractures, Scoliosis, Joint hypermobility, Brachydactyly |
ORPHA:217335 |
Hjv Or Hamp-Related Hemochromatosis |
|
Osteoporosis |
ORPHA:79230 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor... |
ORPHA:950 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... |
ORPHA:2616 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Macs Syndrome |
|
Joint laxity, Redundant skin, Osteoporosis, Cutis laxa, Hyperextensible skin, Scoliosis, Decrease... |
OMIM:613075 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Joint hypermobility, Thoraco... |
OMIM:618853 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis, Obesity |
OMIM:610628 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Plantar hyperkeratosis, ... |
ORPHA:2909 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr... |
ORPHA:2634 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ... |
OMIM:211750 |
Analbuminemia |
|
Osteoporosis |
OMIM:616000 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Bone pain |
OMIM:613388 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Mic... |
ORPHA:93329 |
Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... |
OMIM:600002 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ... |
OMIM:258315 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Bone pain, Rickets, Growth delay |
ORPHA:89937 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Talipes, Micrognathia, Spinal rigidity, Kyphosis, Achilles t... |
OMIM:620351 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Micrognathia, Coxa valga, Short neck, Wid... |
ORPHA:163649 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi... |
OMIM:269300 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split... |
OMIM:171480 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Hy... |
OMIM:617604 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Short thumb, Osteoporosis, Growth delay, Scoliosis, Triphalangeal thumb, Intrauterine... |
OMIM:612562 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnorma... |
ORPHA:2145 |
Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Increased bone minera... |
ORPHA:800 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Short neck, ... |
ORPHA:1798 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... |
ORPHA:1488 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis |
ORPHA:529665 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Delayed skeletal matur... |
ORPHA:61 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equin... |
OMIM:618484 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ... |
OMIM:607095 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Osteolysis involving tarsa... |
OMIM:166300 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, Joint hyperflexibility |
ORPHA:1035 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Coxa... |
OMIM:616716 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph... |
OMIM:612813 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia |
OMIM:615266 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Pes planus, Short stature, Monkey wrench femoral neck, Micromeli... |
OMIM:618870 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Large for gestational age, Delayed skeletal maturation, Osteo... |
OMIM:615398 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Hutchinson-Gilford Progeria Syndrome |
|
Growth delay, Osteolysis, Generalized osteoporosis, Micrognathia |
OMIM:176670 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Redundant skin, Seborrheic dermatitis, Erythema, Osteoporosis, Limitation of joint mo... |
OMIM:259100 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Micromelia, Delayed skeletal maturation, Joint hyperflexibility |
ORPHA:2220 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A... |
ORPHA:2928 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... |
OMIM:258860 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Spina bifida occulta |
ORPHA:2983 |
Progeroid Syndrome, Petty Type |
|
Failure to thrive, Decreased skull ossification, Redundant skin, Cutis laxa |
ORPHA:2963 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal form of the vertebral ... |
ORPHA:73230 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Osteoporosis |
OMIM:618187 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Micrognathia, Missing ribs, Postaxial polydactyly, Ulnar bowing, Preax... |
OMIM:617866 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o... |
OMIM:252500 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... |
ORPHA:175 |
Laron Syndrome |
|
Severe short stature, Delayed skeletal maturation, Short long bone, Limb undergrowth, Delayed men... |
OMIM:262500 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Osteopenia, Joint laxity, Cutis laxa, Premature skin wrinkling, Dermal translucency |
OMIM:616603 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... |
OMIM:163400 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Decreased skull ossifica... |
ORPHA:955 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor... |
ORPHA:93304 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity |
ORPHA:77296 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis |
ORPHA:276630 |
Richieri Costa-Da Silva Syndrome |
|
Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver... |
ORPHA:3101 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Congenital hip dislocation, Postnatal growth retardation, Wide anterior fontanel, Inc... |
ORPHA:357058 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Truncal obesity, Osteoporosis, Kyphosis |
OMIM:219080 |
Three M Syndrome 1 |
|
Pes planus, Small for gestational age, Short stature, Short neck, Hyperlordosis, Increased verteb... |
OMIM:273750 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la... |
OMIM:615777 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font... |
OMIM:620099 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short neck, Postnatal g... |
OMIM:616145 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Del... |
OMIM:606631 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Scoliosis |
ORPHA:2611 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Truncal obesity, Osteoporosis, Kyphosis |
OMIM:610475 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Small ... |
ORPHA:221016 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Scoliosis, Failure ... |
OMIM:612940 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Disproportionate short ... |
OMIM:222765 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Delayed skeletal maturation, Oste... |
ORPHA:91 |
Hypercholanemia, Familial, 2 |
|
Osteopenia |
OMIM:619256 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Obesity, Facial erythema, Abdominal obesity, Biconcave vertebral bodies, ... |
OMIM:219090 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Weight loss, Reduced bo... |
OMIM:619377 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Micrognathia, Bowing of the legs, Hypoplastic... |
ORPHA:1865 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Prader-Willi Syndrome |
|
Osteopenia, Syndactyly, Failure to thrive in infancy, Short stature, Kyphosis, Acromicria, Osteop... |
OMIM:176270 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth... |
OMIM:618005 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short sta... |
OMIM:300998 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm... |
ORPHA:2636 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Disproportio... |
ORPHA:583 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Scoliosis, Reduced bone mineral density |
ORPHA:466926 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Talipes equinovarus, Sco... |
OMIM:616756 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Xp21 Deletion Syndrome |
|
Joint laxity, Osteoporosis, Reduced bone mineral density, Finger clinodactyly, Calf muscle hypert... |
ORPHA:261476 |
Indolent Systemic Mastocytosis |
|
Pruritus, Osteoporosis, Maculopapular exanthema, Skin rash |
ORPHA:98848 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:612847 |
Weaver Syndrome |
|
Camptodactyly of finger, Redundant skin, Joint stiffness, Joint hyperflexibility, Scoliosis |
ORPHA:3447 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar... |
OMIM:619135 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... |
OMIM:613091 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin |
OMIM:301021 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Absent th... |
ORPHA:392 |
Nasu-Hakola Disease |
|
Bone cyst, Bone pain, Limitation of joint mobility, Reduced bone mineral density, Abnormal epiphy... |
ORPHA:2770 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint laxity, Striae distensae, Osteoarthritis, Hyperextensible skin, Soft skin, Joint hypermobility |
OMIM:130020 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Osteoporosis |
OMIM:266510 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... |
ORPHA:1422 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Short stature, Tapered finger, Kyphosis, Flexio... |
OMIM:615547 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Hypoplas... |
ORPHA:3144 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Jeune Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, P... |
ORPHA:474 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Scoliosis, Talipes equinovarus, Joint hypermobility, Increased susceptibility to fractures |
OMIM:619752 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures |
OMIM:304700 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
Aggressive Systemic Mastocytosis |
|
Bone pain, Osteoporosis, Osteolysis, Weight loss, Pathologic fracture |
ORPHA:98850 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Delayed puberty, Bicoronal sy... |
OMIM:619718 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Talipes, Severe generalized osteoporosis, Micrognathia, Ky... |
OMIM:210730 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Osteoporosis, Short stature |
OMIM:257200 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Neonatal death, Intrauterine growth retardation, Failure to thrive |
OMIM:618237 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Osteoporosis, Increased body weight |
OMIM:615830 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia |
ORPHA:1277 |
Adamantinoma |
|
Pathologic fracture, Bone pain |
ORPHA:55881 |
Prader-Willi Syndrome |
|
Osteopenia, Short stature, Osteoporosis, Small hand, Increased susceptibility to fractures, Short... |
ORPHA:739 |
Occipital Horn Syndrome |
|
Joint laxity, Pes planus, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusio... |
OMIM:304150 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Kyphosco... |
OMIM:610758 |
Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr... |
OMIM:602531 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Masa Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb |
OMIM:303350 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures, Short stature |
OMIM:268315 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... |
ORPHA:1328 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Marked delay in b... |
OMIM:610797 |
Amish Lethal Microcephaly |
|
Decreased skull ossification, Osteoporosis, Limitation of joint mobility, Micrognathia |
ORPHA:99742 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, C... |
ORPHA:3121 |
Congenital Disorder Of Glycosylation, Type Ir |
|
Osteopenia, Failure to thrive, Accelerated skeletal maturation |
OMIM:614507 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Wide anterio... |
OMIM:225410 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... |
ORPHA:65759 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short met... |
OMIM:248800 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda... |
ORPHA:178148 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Brachydactyly, Multiple joint contractures, Small for gestational age, Thoracic scoli... |
ORPHA:2959 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Short stature, Micrognathia, Kyphosis, Scoliosis, Clinodactyly of the ... |
OMIM:615834 |
Classic Homocystinuria |
|
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis |
ORPHA:394 |
Classic Galactosemia |
|
Osteoporosis, Delayed puberty, Reduced bone mineral density |
ORPHA:79239 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Failure to thrive, Short stature |
OMIM:620007 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Shox-Related Short Stature |
|
Short stature, Micrognathia, Short neck, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm... |
ORPHA:314795 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Pes cavus, Talipes equinovarus, Scoliosis |
OMIM:617087 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Cutis laxa, Excessive w... |
OMIM:614438 |
Cutis Laxa-Marfanoid Syndrome |
|
Limitation of joint mobility, Flexion contracture, Redundant skin |
ORPHA:171719 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Small hand, Abnormal rib morphology, Short f... |
ORPHA:488434 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Eunuchoid habitus, Generalized joint laxity, Delayed skeletal maturation, Osteoporosi... |
ORPHA:432 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Osteoporosis, Obesity, Small hand, Short foot, Abdominal obesity, Hip dysplasia, Scol... |
ORPHA:398079 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platys... |
ORPHA:93274 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Hyperextensible skin |
OMIM:619764 |
Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Biconvex vertebral bodies, Short stature, Postnatal growth... |
ORPHA:353298 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Small hand,... |
ORPHA:96184 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Short stature, Proximal placement of thumb, Abnormal thu... |
ORPHA:94065 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Failure to thrive, Rickets |
OMIM:602722 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cutis laxa, Hyperextensible skin, Scoliosis, Failure to thrive, Joint hypermobility |
OMIM:219150 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Overlapping fingers, Femu... |
OMIM:618291 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas... |
ORPHA:83451 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Redundant skin, Cutis laxa, Excessive wrinkled skin, Scoliosis, Failure to thrive, Joint hypermob... |
OMIM:219200 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Hip d... |
ORPHA:85170 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Osteoporosis, Increased body weight |
OMIM:615954 |
Rahman Syndrome |
|
Redundant skin, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl... |
OMIM:143095 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Flexion contracture, Thin ribs, Arthrogryposis multiplex congenita, ... |
ORPHA:171430 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Large for gestational age, Osteoporosis, Cutis laxa, Scoliosis, Finger ... |
ORPHA:363705 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Dry skin, Eczema, Cutis laxa |
OMIM:612379 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis |
ORPHA:2314 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Vertebral segmentation defect, Rhizomel... |
OMIM:611209 |
Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
ORPHA:171433 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Short stature, Kyphosis, Flexion contracture, Osteoporosis, Increased body weight, Sm... |
ORPHA:398069 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Short stature, Micrognathia, Abnormal foot morphology, Kyphosis, Conge... |
ORPHA:352490 |
Propionic Acidemia |
|
Failure to thrive, Osteoporosis, Short stature |
OMIM:606054 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Sandal gap, Short stature, Kyphosis, Small hand, Short foot, Abdominal ... |
OMIM:300354 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal rib morphology, Clu... |
ORPHA:1318 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... |
ORPHA:3258 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h... |
ORPHA:98754 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Growth delay, Scoliosis |
ORPHA:505652 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Flynn-Aird Syndrome |
|
Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Truncal obesity, Osteoporosis, Kyphosis |
OMIM:610489 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri... |
ORPHA:2021 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Marked delay in bone age |
ORPHA:785 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Small for gestational age, Coxa valga, Achill... |
ORPHA:404454 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... |
ORPHA:2671 |
Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
Arthrogryposis, Distal, Type 3 |
|
Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Overlapping toe, Mi... |
OMIM:114300 |
Gaucher Disease, Type I |
|
Bone pain, Pathologic fracture, Vertebral compression fracture, Avascular necrosis, Erlenmeyer fl... |
OMIM:230800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Short stature, Joint stiffness, Postnatal growth retardation, Reduced bone mineral density, Joint... |
OMIM:620210 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Short stature, Small for gestational age, Fifth finger distal phalanx clinodactyly, Postnatal gro... |
ORPHA:3369 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Disproportionate short-trunk s... |
ORPHA:263463 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis |
OMIM:616937 |
Man1B1-Cdg |
|
Truncal obesity, Joint hypermobility, Cutis laxa, Short neck |
ORPHA:397941 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Short stature, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Growth delay, I... |
OMIM:613990 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw... |
OMIM:190350 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h... |
ORPHA:98793 |
Cardiofaciocutaneous Syndrome 3 |
|
Short stature, Short neck, Reduced bone mineral density, Scoliosis, Failure to thrive |
OMIM:615279 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d... |
ORPHA:1858 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h... |
ORPHA:177904 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Accelerated skeletal maturation, Fibrous dysplasia of the bone... |
ORPHA:562 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... |
ORPHA:508533 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small for gestational age, Short stature, Osteoporosis, Obesity, Pedal edema, Small h... |
ORPHA:177901 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
Werner Syndrome |
|
Low back pain, Osteoporosis, Short stature, Reduced bone mineral density |
OMIM:277700 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler... |
ORPHA:793 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Werner Syndrome |
|
Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Small hand, O... |
ORPHA:902 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Gm1 Gangliosidosis |
|
Short stature, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Abnormal form o... |
ORPHA:354 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ... |
ORPHA:280 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Osteopenia, Metaphyseal dysplasia, Severe short stature, Micrognathia, Short neck, Scoliosis, Dec... |
OMIM:618336 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Micrognathia, Osteoporosis, Growth delay, Intrauterine growth retar... |
ORPHA:2409 |
Cardiac Valvular Dysplasia, X-Linked |
|
Joint laxity, Joint stiffness, Cutis laxa |
OMIM:314400 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Reduced bone mineral density |
ORPHA:231222 |
Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Weight loss, Arthri... |
ORPHA:465508 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Accelerated skeletal maturation, Short metatarsal, Irregular vertebral endplates, B... |
ORPHA:439822 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Short neck, Micrognathia, Hyperlordosis, Kyphosis, Abnormal rib morphology, Fused ... |
ORPHA:2522 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Failure to thrive, Kyphosis |
ORPHA:319199 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal dyspl... |
ORPHA:3219 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Arachnodactyly, Short stature, Delayed skeletal maturation, Reduced bone mineral dens... |
ORPHA:243 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa... |
ORPHA:667 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Cutis laxa |
OMIM:301045 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hyperlordosis, Spinal rigidity, Accelerated skeletal maturation, Flexion contracture,... |
OMIM:613327 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retarda... |
OMIM:309000 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short neck, Talipes equinovarus, B... |
OMIM:300990 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e... |
OMIM:164745 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Short stature, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scolio... |
ORPHA:2479 |
Hamamy Syndrome |
|
Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Micrognathia, Tapered fi... |
OMIM:611174 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Pes planus, Thoracic scoliosis, Thoracic kyphoscoliosis, Distal joint laxity, General... |
ORPHA:1900 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity |
OMIM:616629 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin |
OMIM:615937 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets, Short stature |
OMIM:211600 |
Perrault Syndrome 4 |
|
Osteoporosis, Obesity |
OMIM:615300 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight loss, Delayed puberty,... |
OMIM:212750 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture |
OMIM:616867 |
Farber Disease |
|
Abnormality of the knee, Short stature, Abnormal foot morphology, Short toe, Flexion contracture,... |
ORPHA:333 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Growth delay, Triphalangeal thumb, Dela... |
ORPHA:2232 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short metatars... |
OMIM:617102 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture |
OMIM:174800 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent phalangeal crease, Dista... |
OMIM:108145 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Joint stiffness, Kyphosis, Hip dislocation, Moderate pos... |
ORPHA:1005 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Micrognathia, Metatarsus valgus, Aplasia/Hyp... |
ORPHA:3082 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Hyperextensible skin, Joint hypermobility, Scoliosis |
OMIM:617174 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta... |
OMIM:614815 |
6P22 Microdeletion Syndrome |
|
Redundant skin, Short neck |
ORPHA:251046 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Talipe... |
OMIM:210600 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis |
OMIM:613328 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Osteopenia, Hallux valgus, Small for gestational age, Micrognathia, Broad thumb, Clinodactyly, Fa... |
OMIM:620194 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Short stature, Osteoporosis, Palmoplantar hyperkeratosis, Avascular necrosis |
OMIM:613989 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Distal w... |
OMIM:602535 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Rib fusion, Supernumerary ... |
ORPHA:64755 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... |
OMIM:617404 |
Adrenomyodystrophy |
|
Delayed skeletal maturation, Failure to thrive, Short stature, Reduced bone mineral density |
ORPHA:977 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Short stature, Reduced bone mineral density, Joint hyperflexibility, Slender lon... |
ORPHA:1185 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur... |
OMIM:620232 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Short stature, Coxa valga, Accelerated skeletal maturation, Flared meta... |
ORPHA:370930 |
Distal Renal Tubular Acidosis |
|
Short stature, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced b... |
ORPHA:18 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Narrow greater ... |
OMIM:253220 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Failure to thrive in infancy, Osteoporosis, Genu valgum, Growth delay, ... |
ORPHA:231226 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Short neck, Delayed skeletal maturation, Osteoporosis, 2-3 toe synda... |
ORPHA:488632 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... |
OMIM:218330 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, 11 pairs of ribs, Sandal gap, Short stature, Short toe, Delayed skeletal maturation, ... |
OMIM:617877 |
Glass Syndrome |
|
Arachnodactyly, Anterior tibial bowing, Short stature, Micrognathia, Talipes equinovarus, Camptod... |
OMIM:612313 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis, Intrauterine growth... |
OMIM:255200 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Cutis laxa |
OMIM:619691 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Short toe, Delayed skeletal maturation, Obesity, Broad fo... |
ORPHA:3085 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Rickets, Short stature |
OMIM:611590 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... |
OMIM:619797 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos... |
ORPHA:958 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small for gestational age, Short stature, Kyphoscoliosis, Micrognathi... |
OMIM:268400 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Small for gestational age, Rhizomelia, Hypoplastic s... |
OMIM:614813 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Proportionate short stature, Micrognathia, Small hand, Reduced bone mineral ... |
ORPHA:2108 |
Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Generalized osteoporosis |
ORPHA:99879 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, Kyphosis, Split hand, Obesity, Areflexia of lower limbs, Scoliosis, Pes cavus |
OMIM:618124 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Finger clinodactyly, Clin... |
ORPHA:508488 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... |
OMIM:618476 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Abnormal thumb morphology, Small hand... |
ORPHA:1597 |
Momo Syndrome |
|
Short stature, Large for gestational age, Short neck, Obesity, Femoral bowing, Large hands, Short... |
ORPHA:2563 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hand clenching, Overlapping fingers, Thoracic scoliosis, Recurrent fractures |
OMIM:606056 |
Alg8-Cdg |
|
Small for gestational age, Cutis laxa, Camptodactyly, Premature skin wrinkling, Failure to thrive |
ORPHA:79325 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
Sickle Cell Anemia |
|
Avascular necrosis, Osteomyelitis, Osteoporosis |
ORPHA:232 |
Kallmann Syndrome |
|
Pes planus, Recurrent fractures, Delayed skeletal maturation, Obesity, Reduced bone mineral densi... |
ORPHA:478 |
Lathosterolosis |
|
Toe syndactyly, Micrognathia, Lumbosacral meningocele, Postaxial hand polydactyly, Osteoporosis, ... |
OMIM:607330 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Short stature, Micrognathia, Coxa valga, Short neck, Hip d... |
OMIM:619297 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Absent pubertal growth spurt, Flaring ... |
OMIM:250250 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Growth delay, Scoliosis... |
ORPHA:238750 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... |
OMIM:113500 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Delayed puberty |
ORPHA:2326 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Pes planus, Cachexia, Joint stiffness, Micrognathia, Abnormality of the lower limb, Flexion contr... |
ORPHA:1979 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Increased susceptibility to fractures |
ORPHA:216866 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphy... |
OMIM:108300 |
Hemochromatosis, Type 1 |
|
Osteoporosis |
OMIM:235200 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnatal growth retardation, Hemi... |
OMIM:302960 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... |
OMIM:119800 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Delayed skeletal maturation, Bone pain, Osteolysis, Increased sus... |
ORPHA:77261 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Joint hyperflexibility, Kyphosis |
ORPHA:1875 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar vertebrae, ... |
OMIM:230650 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Microgna... |
OMIM:618150 |
Scarf Syndrome |
|
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Cutis laxa, Joint hyperflexi... |
ORPHA:3134 |
Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit... |
ORPHA:1545 |
Cranioectodermal Dysplasia 4 |
|
Joint hypermobility, Sagittal craniosynostosis, Cutis laxa |
OMIM:614378 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Small ... |
ORPHA:221008 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Metaphyseal chondrodysplasia, Large knee, Reduced bone mineral density |
ORPHA:83629 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Osteoporosis, Increased body weight, Increased susceptibility to fractures |
ORPHA:189427 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi... |
OMIM:200980 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets, Growth delay, Failure to thrive |
ORPHA:2088 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Short stature, Scoliosis, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Down-sloping shoulders, Short neck... |
ORPHA:85293 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... |
ORPHA:565 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Growth delay, Osteop... |
OMIM:612301 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Disproportionate short s... |
OMIM:617425 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Pes planus, Congenital hip dislocation, Arachnodactyly, Congenital kyphoscoliosis, Ky... |
ORPHA:536545 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Bone pain, Recurrent fractures |
ORPHA:319487 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Lysinuric Protein Intolerance |
|
Recurrent fractures, Increased circulating ferritin concentration, Osteoporosis, Intraalveolar ph... |
OMIM:222700 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Short stature, Rocker bottom fo... |
OMIM:301041 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Small for gestational age, Elbow contracture, Short stature, Postnatal growth retarda... |
OMIM:616489 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Failure to thrive, Bowing of the long bones, Camptodactyly of fin... |
ORPHA:90652 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Short stature, Osteoporosis, Growth delay, Pathologic fracture |
OMIM:307030 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication of... |
OMIM:616331 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Osteoporosis, Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:398063 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Redundant skin, Generalized joint laxity, Cutis laxa, Excessive wrinkled ski... |
ORPHA:357074 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:581 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,... |
OMIM:618162 |
Wilson Disease |
|
Back pain, Bone pain, Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure... |
ORPHA:905 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormality of the vertebral spinous processes, Abnormal tibia morphology, Osteoporos... |
ORPHA:909 |
Slc39A8-Cdg |
|
Osteopenia, Failure to thrive in infancy, Short stature, Craniosynostosis, Elbow flexion contract... |
ORPHA:468699 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Failure to thrive in infancy, Osteoporosis, Genu valgum, Growth delay, ... |
ORPHA:231214 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Short stature, Kyphosis, Osteoporo... |
ORPHA:3063 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Delayed skeletal maturation, Osteoporosis, Delayed puberty |
ORPHA:91348 |
De Barsy Syndrome |
|
Osteopenia, Kyphoscoliosis, Generalized joint laxity, Cutis laxa, Excessive wrinkled skin, Failur... |
ORPHA:2962 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... |
ORPHA:2115 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Flexion contracture, Growth delay, Polydactyly, Failure to thrive |
ORPHA:17 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang... |
OMIM:619269 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg... |
ORPHA:263508 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Tali... |
OMIM:300280 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Bone pain, Weight loss, Osteoporosis, Increased susceptibility to fractures |
ORPHA:98849 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Delayed skeletal maturation, Growth delay, Delayed puberty, Osteoporosis of vertebrae |
ORPHA:95619 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Talipes, Flexion contracture, Limb undergrowth, Intrauterine growth re... |
ORPHA:79243 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Delayed skeletal maturation, Abnormal carpal morphology, Obesity, Severe postnatal... |
ORPHA:319675 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Short stature, Bone pain, Rickets, Hypophosphatemic rickets, Rachitic rosary |
OMIM:612089 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Abnormal elasticity of sk... |
ORPHA:486815 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Short stature, Recurrent fractures, Joint hypermobility |
OMIM:619120 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to inju... |
OMIM:608654 |
Dyskeratosis Congenita |
|
Short stature, Recurrent fractures, Osteoporosis, Palmoplantar keratoderma, Scoliosis, Intrauteri... |
ORPHA:1775 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Micrognathia, Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones |
ORPHA:3191 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Lower limb asymmetry, Micrognathia, Hyperlordos... |
OMIM:615761 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Microretrognathia, Syndactyly, Brachydactyly, Small for gestational age, Severe short... |
OMIM:615789 |
9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Postnatal growth retardation, Hip dysplasia, Vertebral segmentation de... |
ORPHA:531151 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Cervical kyphosis, Kyphoscoliosis, Redundant skin, Craniosynostosis, G... |
ORPHA:2953 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Recurrent fractures, Craniosynostosis, Obesity, Delayed puberty |
ORPHA:251004 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Limb unde... |
OMIM:608149 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Typical Nemaline Myopathy |
|
Micrognathia, Short neck, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, Spinal r... |
ORPHA:171436 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal fo... |
ORPHA:2916 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures |
ORPHA:97290 |
Multiple Myeloma |
|
Osteopenia, Bone pain, Weight loss, Pathologic fracture, Vertebral compression fracture |
ORPHA:29073 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Free Sialic Acid Storage Disease |
|
Abnormal foot morphology, Failure to thrive in infancy, Reduced bone mineral density |
ORPHA:834 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ... |
ORPHA:2751 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Aicardi-Goutieres Syndrome 9 |
|
Osteoporosis, Weight loss, Scoliosis, Intrauterine growth retardation, Failure to thrive |
OMIM:619487 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Obesity,... |
ORPHA:254346 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis, Growth delay, Scoliosis, Avascular necrosis |
ORPHA:1764 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay |
ORPHA:309031 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Recurrent fractures, Metaphyseal irregularity |
OMIM:239200 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Osteoporosis, Hip dis... |
OMIM:182250 |
Wieacker-Wolff Syndrome |
|
Short stature, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Hi... |
OMIM:314580 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Arachnodactyly, Delayed skeletal maturation, Thin metacarpal corti... |
ORPHA:2463 |
H Syndrome |
|
Hallux valgus, Pes planus, Short stature, Recurrent fractures, Delayed skeletal maturation, Osteo... |
ORPHA:168569 |
Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, Short neck, Kyphosis, Postnatal growth retardation, Wide anterior f... |
OMIM:248700 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Kyphoscoliosis, Atlantoaxial instability, Cutis laxa, Hyperextensible skin, Soft skin |
OMIM:614557 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Postnatal growth retardation, Osteoporosis, Increased body weight, Short stature |
ORPHA:79240 |
Weaver Syndrome |
|
Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior fontanel, Disprop... |
OMIM:616482 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
Hurler Syndrome |
|
Hypoplasia of the femoral head, Short stature, Joint stiffness, Coxa valga, Hypoplasia of the odo... |
OMIM:607014 |
Image Syndrome |
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Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation |
ORPHA:85173 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Large for gestational age, Obesity, Cutis laxa |
OMIM:605309 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Osteopenia, Short stature, Ectrodactyly, Delayed puberty, Clinodactyly |
OMIM:147950 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Micrognathia, Rocker bot... |
OMIM:619951 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Micromelia, Delayed skeletal maturation, Disproportionate short stature, Coxa vara, Joint hyperfl... |
ORPHA:2637 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Short stature, Osteoporosis, Increased body weight, Growth delay, Delayed puberty, Failure to thrive |
ORPHA:264580 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ilia, Kyphosis, Disproporti... |
ORPHA:1855 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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11 pairs of ribs, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Short long ... |
OMIM:619184 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
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Limb pain, Pathologic fracture, Osteomyelitis |
ORPHA:36386 |
Pelger-Huet Anomaly |
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Kyphosis, Upper limb undergrowth, Short 4th metacarpal, Polydactyly, Short 3rd metacarpal, Mild s... |
OMIM:169400 |
Lopes-Maciel-Rodan Syndrome |
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Kyphosis, Small hand, Ankle clonus, Short foot, Scoliosis |
OMIM:617435 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo... |
ORPHA:99228 |
Monosomy X |
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Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo... |
ORPHA:99226 |
Turner Syndrome |
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Osteopenia, Micrognathia, Short neck, Reduced bone mineral density, Short 5th metacarpal, Hypermo... |
ORPHA:881 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive |
ORPHA:796 |
Sanjad-Sakati Syndrome |
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Short stature, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Delayed skeleta... |
ORPHA:2323 |
Lenz-Majewski Hyperostotic Dwarfism |
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Finger syndactyly, Increased bone mineral density, Severe short stature, Aplastic clavicle, Abnor... |
ORPHA:2658 |
Richards-Rundle Syndrome |
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Reduced bone mineral density, Joint stiffness |
ORPHA:1399 |
Scarf Syndrome |
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Short neck, Abnormal form of the vertebral bodies, Cutis laxa, Lambdoidal craniosynostosis, Coron... |
OMIM:312830 |
Coffin-Lowry Syndrome |
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Craniofacial hyperostosis, Short metacarpal, Pes planus, Pseudoepiphyses of the metacarpals, Brac... |
ORPHA:192 |
Marfan Syndrome |
|
Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow ... |
ORPHA:558 |
Cockayne Syndrome B |
|
Severe short stature, Small for gestational age, Postnatal growth retardation, Kyphosis, Limitati... |
OMIM:133540 |
Intellectual Disability, Buenos-Aires Type |
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Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Clinodactyly... |
ORPHA:3079 |
Cystinosis |
|
Failure to thrive, Rickets, Short stature, Delayed puberty |
ORPHA:213 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypopla... |
ORPHA:2491 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Short stature, Scoliosis, Joint stiffness |
ORPHA:816 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Micrognathia, Bowing of the legs, Abnormality of the lower limb, ... |
ORPHA:313855 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Short stature, Osteolysis, Pathologic fracture, Vertebral compression fracture, Joint... |
OMIM:263700 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Redundant neck skin, Redundant skin, Abnormal curvature of the vertebra... |
ORPHA:90348 |
Blepharonasofacial Malformation Syndrome |
|
Joint hyperflexibility, Redundant skin |
ORPHA:1252 |
Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Bone pain, Weight loss, Growth delay, Increased susceptibility to fractures, Hypoph... |
ORPHA:3337 |
Phakomatosis Pigmentovascularis |
|
Reduced bone mineral density |
ORPHA:2875 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Soft, doughy skin, Flexion contracture, Cutis laxa, Hyperextensible skin, Scoliosis... |
OMIM:208050 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Delayed skeletal maturation, S... |
OMIM:241410 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti... |
ORPHA:2062 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Long toe, Short stature, 2-3 toe syndactyly, Atlantoaxi... |
ORPHA:3455 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overlapping fingers, Micrognathia, Short neck, Femoral bowing, Sh... |
OMIM:617022 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis |
ORPHA:79107 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Small for gestational age, Short stature, Long foot, Microg... |
OMIM:264090 |
Dietary Iron Overload Disease |
|
Osteoporosis |
ORPHA:139507 |
Macular Degeneration, Age-Related, 3 |
|
Hyperextensible skin, Joint hypermobility |
OMIM:608895 |
Baralle-Macken Syndrome |
|
Pes planus, Kyphosis, Obesity, Tapered finger |
OMIM:619255 |
Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Redundant skin |
ORPHA:1807 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Costello Syndrome |
|
Failure to thrive in infancy, Redundant skin, Short neck, Lack of skin elasticity, Joint hyperfle... |
ORPHA:3071 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Talipe... |
OMIM:224410 |
Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Talipes, Micromelia, Micrognathia, Metatars... |
ORPHA:35107 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap... |
OMIM:208500 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Delayed skel... |
OMIM:617809 |
Glycogen Storage Disease Ia |
|
Short stature, Osteoporosis, Gout, Growth delay, Delayed puberty |
OMIM:232200 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis, Palmoplantar hyperkeratosis |
OMIM:224230 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c... |
OMIM:600920 |
Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter... |
OMIM:618644 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Small for gestational age, Short stature |
OMIM:215250 |
Cerebrotendinous Xanthomatosis |
|
Ankle clonus, Osteoporosis |
OMIM:213700 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short stature, Micrognathia, Reduced bone mineral density, Growth delay, Short cl... |
OMIM:619322 |
Specific Granule Deficiency 2 |
|
Osteopenia, Failure to thrive, Hyperextensible skin |
OMIM:617475 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia |
ORPHA:291 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt... |
OMIM:619557 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Failure to thrive, Rickets |
ORPHA:79303 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocat... |
OMIM:241800 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Cohen Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Micrognathia, Tapere... |
ORPHA:193 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Failure to thrive, Humeroradial synostosis... |
OMIM:151050 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Abnormal foot morp... |
ORPHA:261318 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Cutis laxa |
OMIM:610842 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia, Short stature |
OMIM:134600 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Sacral dimple, Redundant skin, Kyphoscoliosis, Kyphosis, Hyperext... |
ORPHA:536532 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Rickets |
OMIM:607765 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Short stature, Osteoporosis, Gout, Increased susceptibility to fractures, Growth dela... |
ORPHA:79259 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... |
OMIM:606612 |
Bohring-Opitz Syndrome |
|
Sacral dimple, Flexion contracture, Cutis laxa, Camptodactyly, Failure to thrive |
OMIM:605039 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Short stature, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of th... |
OMIM:231050 |
X-Linked Creatine Transporter Deficiency |
|
Joint hyperflexibility, Redundant skin, Cachexia |
ORPHA:52503 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal p... |
ORPHA:1784 |
Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures |
ORPHA:1656 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... |
OMIM:134780 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Hurler-Scheie Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, Contracture of the distal ... |
OMIM:607015 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis |
OMIM:614898 |
Dpm1-Cdg |
|
Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Failure to t... |
ORPHA:79322 |
Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Short stature, Micrognathia, Thora... |
OMIM:300373 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Micrognathia... |
OMIM:259775 |
Ogden Syndrome |
|
Scoliosis, Cutis laxa |
ORPHA:276432 |
Keppen-Lubinsky Syndrome |
|
Micrognathia, Postnatal growth retardation, Flexion contracture, Increased susceptibility to frac... |
ORPHA:435628 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Microretrognathia, Flexion contr... |
OMIM:616866 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Postnatal growth retardation,... |
OMIM:300963 |
Hyperparathyroidism 4 |
|
Osteopenia |
OMIM:617343 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, S... |
ORPHA:464282 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Autoamputation of digits, Short stature, Osteomyelitis leading to amputation due to slow healing ... |
OMIM:256810 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Short stature,... |
OMIM:605822 |
Melnick-Needles Syndrome |
|
Pes planus, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
Congenital Disorder Of Deglycosylation 1 |
|
Small hand, Osteoporosis, Short foot, Scoliosis, Decreased body weight |
OMIM:615273 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Microretrognathia, Sacral dimple, Toe syndactyly, Tapered finger, Osteoporosis, Growth delay, Low... |
ORPHA:459070 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
ORPHA:2429 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets, Short stature, Large for gestational age |
OMIM:616026 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Tapered finger,... |
ORPHA:2215 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Achilles tendon calcification, Calvarial osteosclerosis, Metacarpal periosteal thicke... |
OMIM:617994 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangea... |
OMIM:618050 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyphosis, Small hand, Obesit... |
OMIM:618443 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Short palm, Short stature, Ro... |
ORPHA:79474 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Joint stiffness, Micrognathia, Coxa valga, Postnatal growth r... |
OMIM:248370 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Hyperlordosis, Kyphosis, ... |
OMIM:181405 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Bone pain |
OMIM:259900 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density |
ORPHA:935 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, Kyphosis, Scoliosis |
OMIM:609008 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Recurrent fractures, Osteomalacia, Joint stiffness, Micrognathia, Kyphosis, Abnorm... |
ORPHA:534 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... |
OMIM:614091 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebra... |
OMIM:230500 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Finger... |
OMIM:618493 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Bone pain, Recurrent fractures |
ORPHA:416 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Hyperextensible skin, Scoliosis, Joint stiffness |
ORPHA:1899 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Delayed puberty, Scoliosis, Micrognathia |
ORPHA:2598 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis,... |
OMIM:300966 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Short foot, Growth delay, Scoliosis |
ORPHA:3095 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, Jo... |
ORPHA:355 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Arachnodactyly, Sandal gap, Short stature, Kyphosis, Scoliosis, Camptodactyly, Clinod... |
OMIM:617602 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont... |
ORPHA:314588 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Micrognathia, Kyphosis, Scoliosis |
ORPHA:2471 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Postnatal growth retardation, ... |
ORPHA:93325 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Overweight, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, ... |
ORPHA:500055 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Microg... |
ORPHA:435638 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Hip dislocation, Limited pronation... |
ORPHA:293843 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Short 5th finger, Scoliosis, Acromesomelia, Tracheobronchomalacia |
ORPHA:500159 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Short stature, Micrognathia, Mesomelia, Camptodactyly, Prominent finger... |
OMIM:618529 |
Glycogen Storage Disease Ib |
|
Short stature, Osteoporosis, Gout, Delayed puberty |
OMIM:232220 |
Prolactinoma |
|
Osteopenia, Osteoporosis, Delayed puberty |
ORPHA:2965 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:98855 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Redundant skin, Cutis laxa |
OMIM:219100 |
Craniopharyngioma |
|
Proportionate short stature, Postnatal growth retardation, Obesity, Increased susceptibility to f... |
ORPHA:54595 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density |
ORPHA:2720 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Reduced bone mine... |
ORPHA:1556 |
Primrose Syndrome |
|
Hip contracture, Short stature, Joint hypermobility, Metatarsus adductus, Kyphosis, Flexion contr... |
OMIM:259050 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Dpagt1-Cdg |
|
Arachnodactyly, Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Clinodactyly, Failur... |
ORPHA:86309 |
Immunodeficiency 49 |
|
Psoriasiform dermatitis, Cutis laxa |
OMIM:617237 |
Alg12-Cdg |
|
Redundant skin, Hypoalbuminemia, Scoliosis, Abnormal bone ossification, Failure to thrive, Campto... |
ORPHA:79324 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra... |
OMIM:612731 |
Prolidase Deficiency |
|
Arachnodactyly, Micrognathia, Genu valgum, Reduced bone mineral density, Palmoplantar keratoderma... |
ORPHA:742 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short foot, Intrauterine growth ... |
OMIM:269860 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micromelia, Micrognathia, Rocker bottom foot, Short neck, Limitation of ... |
ORPHA:99776 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Recurrent fractures, Micrognathia, Osteopetrosis, Failure to thrive, Prominent flo... |
ORPHA:2785 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod... |
ORPHA:284984 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Short stature, Postnatal growth ret... |
OMIM:614800 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Dry skin, Sagittal craniosynostosis, Cutis laxa |
OMIM:614099 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Failure to thrive, Joi... |
OMIM:617988 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys... |
ORPHA:97685 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Short stature, Cachexia, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:702 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Short stature |
ORPHA:1861 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Elb... |
ORPHA:98863 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Redundant skin, Cutis laxa, Tracheomalacia |
OMIM:613177 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Postnatal growth retardation, Humerora... |
ORPHA:3404 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Short neck, Micrognathia, Hyperlordosis, Kyphosis, Abnormal form of th... |
ORPHA:2789 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Pathologic fracture, Obesity |
OMIM:614231 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Tapered finger |
OMIM:618367 |
X-Linked Ehlers-Danlos Syndrome |
|
Joint hyperflexibility, Hyperextensible skin |
ORPHA:75497 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Calf muscle hypertrophy, Elbow flexion contracture, Kyphosis |
OMIM:618138 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Flexion contracture, Talipes equinovarus, Scoliosis, Neonatal death, Limb unde... |
OMIM:619124 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... |
OMIM:269150 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Short stature, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density, Delayed p... |
ORPHA:90796 |
Cholestasis-Lymphedema Syndrome |
|
Bone pain, Reduced bone mineral density |
ORPHA:1414 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short stature, Short neck, Micrognathia, Kyphosis, Sclerosis of skull base, Sco... |
OMIM:130720 |
Leri Pleonosteosis |
|
Camptodactyly of finger, Joint stiffness, Abnormally straight spine, Abnormal form of the vertebr... |
ORPHA:2900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Elbow ankylosis, Abnormal vertebral morphology, Short metaca... |
ORPHA:95699 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal fo... |
ORPHA:3042 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Vertebral f... |
OMIM:194190 |
Noonan Syndrome 8 |
|
Eczema, Large for gestational age, Short neck, Hyperextensible skin, Palmoplantar cutis laxa, Fai... |
OMIM:615355 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density, Delayed puberty, Failure... |
ORPHA:168558 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Micr... |
OMIM:610168 |
3Mc Syndrome 1 |
|
Sacral dimple, Single interphalangeal crease of fifth finger, Postnatal growth retardation, Wide ... |
OMIM:257920 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Brittle Cornea Syndrome 2 |
|
Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Redundant skin, Kyphoscoliosis, Cutis laxa, Camptodactyly, Joint contracture, Failure to thrive |
OMIM:617403 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density, Delayed puberty, Failure... |
ORPHA:289548 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:98853 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Failure to thrive in infancy, Short stat... |
ORPHA:261323 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short stature, Short ne... |
ORPHA:79443 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Micromelia, Trapezoidal vertebral body, Short phalanx of ... |
OMIM:600092 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures |
OMIM:133780 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Absent Achilles reflex, Ankle clonus, Scoliosis, Pes cavus |
OMIM:609541 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Mesomel... |
ORPHA:1765 |
Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, Short stature, Kyphosis, Osteoarthri... |
ORPHA:828 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint hyperflexibility, Redundant skin |
ORPHA:502 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Redundant neck skin, Small for gestational age |
OMIM:610498 |
Neurofibromatosis Type 1 |
|
Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Ab... |
ORPHA:636 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... |
OMIM:607155 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Failure to thrive, Osteoporosis, Scoliosis |
OMIM:203700 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Short neck, Excessive wrinkled skin, Hyperextensibl... |
ORPHA:1340 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Osteoporosis |
OMIM:127550 |
Fanconi-Bickel Syndrome |
|
Postnatal growth retardation, Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Micromelia, Short neck, Failure to thrive, Adducted thumb |
ORPHA:50810 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Micrognathia, Large for gestational age, Kyphosis, Wide anterior fontanel |
OMIM:618272 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Small for gestational age, Short stature, Delayed skeletal maturation, ... |
OMIM:613658 |
Mucolipidosis Type Ii |
|
Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard... |
ORPHA:576 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Short stature, Kyphosis, Positional f... |
OMIM:610443 |
Wrinkly Skin Syndrome |
|
Osteopenia, Kyphoscoliosis, Excessive skin wrinkling on dorsum of hands and fingers, Generalized ... |
ORPHA:2834 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Pes planus, Genu recurvatum, Short stature, Kyphosis, Scoliosis, Slender build |
ORPHA:364028 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Mgat2-Cdg |
|
Osteopenia, Kyphosis, Scoliosis, Failure to thrive, Brachydactyly |
ORPHA:79329 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hyperlordosis, Flexion contracture, Osteoporosis, Scoliosis, Failure to thrive |
ORPHA:365 |
Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Pes planus, Congenital hip dislocation, Short stature, Kyphosis, W... |
OMIM:278250 |
Agel Amyloidosis |
|
Pruritus, Dry skin, Cutis laxa |
ORPHA:85448 |
3C Syndrome |
|
Finger syndactyly, Short stature, Micrognathia, Missing ribs, Short neck, Kyphosis, Postnatal gro... |
ORPHA:7 |
3Mc Syndrome 2 |
|
Craniosynostosis, Limited elbow movement, Postnatal growth retardation, Hip dislocation, Radiouln... |
OMIM:265050 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormal ri... |
ORPHA:3015 |
Beta-Thalassemia |
|
Reduced bone mineral density |
ORPHA:848 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Short stature, Delayed skeletal maturation, Osteoporosis, Delayed puberty, Pathologic... |
ORPHA:77293 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Micrognathia, Kyphosis, Scoliosis, Intrauterine growth... |
OMIM:609029 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Failure to thrive |
OMIM:608776 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Pes cavus, Proxim... |
OMIM:162300 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Short stature, Micrognathia, Short neck, Kyphosis, Mesomelia, Scoliosi... |
OMIM:616894 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Osteoporosis, Absent Achilles reflex |
ORPHA:254892 |
Primary Biliary Cholangitis |
|
Osteoporosis |
ORPHA:186 |
Boomerang Dysplasia |
|
Severe short stature, Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Craniosynostosis, Short neck, Cutis laxa, Failure to thrive |
OMIM:266920 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Short stature, Joint stiffness, Micrognathia, Decreased fibular diameter,... |
OMIM:619127 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Cervical ribs, Micrognathia |
ORPHA:77300 |
Wilson Disease |
|
Osteomalacia, Osteoarthritis, Osteoporosis, Pedal edema, Joint hypermobility |
OMIM:277900 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Microgn... |
ORPHA:521426 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Short stature, Ky... |
ORPHA:97360 |
Cushing Disease |
|
Acne, Osteoporosis, Increased body weight, Skin ulcer, Recurrent cutaneous fungal infections, Tru... |
ORPHA:96253 |
Rett Syndrome |
|
Short stature, Cachexia, Kyphosis, Short foot, Scoliosis |
OMIM:312750 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Proximal placement of thumb |
OMIM:615433 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Postnatal growth re... |
OMIM:263750 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostos... |
ORPHA:1507 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Pes planus, Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long finge... |
OMIM:616914 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Soft skin, Hyperextensible skin, Joint laxity |
OMIM:225320 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibilit... |
ORPHA:96169 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shou... |
ORPHA:568 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Short neck, Kyphosis, Split hand, Flexion contracture, Mild ... |
OMIM:309900 |
Arterial Tortuosity Syndrome |
|
Redundant skin, Craniosynostosis, Joint hyperflexibility, Hyperextensible skin, Scoliosis |
ORPHA:3342 |
Cystic Fibrosis |
|
Osteopenia, Failure to thrive, Osteoporosis, Decreased body mass index |
ORPHA:586 |
Aspartylglucosaminuria |
|
Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, ... |
OMIM:208400 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Micrognathia, Reduced bone mine... |
OMIM:617052 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational age, Elevated ci... |
ORPHA:79332 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Joint hyperflexibility, Spina bifida occulta, Hyperextensible skin, Joint hypermobility |
ORPHA:230839 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Joint hyperflexibili... |
ORPHA:758 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... |
OMIM:263650 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Short neck, Joint hyperflexibility, Hyperextensible skin, Abnormal verte... |
ORPHA:915 |
Barber-Say Syndrome |
|
Failure to thrive, Hyperextensible skin, Redundant skin |
ORPHA:1231 |
Lysinuric Protein Intolerance |
|
Osteopenia, Delayed skeletal maturation, Osteoporosis, Pathologic fracture, Failure to thrive |
ORPHA:470 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... |
OMIM:117650 |
2P15P16.1 Microdeletion Syndrome |
|
Pes planus, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, G... |
ORPHA:261349 |
Monosomy 9Q22.3 |
|
Large for gestational age, Short neck, Kyphosis, Accelerated skeletal maturation, Plantar pits, A... |
ORPHA:77301 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
Parathyroid Carcinoma |
|
Bone pain, Osteoporosis, Weight loss |
ORPHA:143 |
Kleefstra Syndrome 2 |
|
Growth delay, Kyphosis, Scoliosis |
OMIM:617768 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Pathologic fracture,... |
ORPHA:90349 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Osteoporosis, Growth delay, Mitten deformity, Failure to thrive |
ORPHA:79404 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Micrognathia, Unilateral radial aplasia, Tapered finger, Partial absence of thumb, Ky... |
ORPHA:476126 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Kyphosis, Contractures of ... |
OMIM:617527 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Osteoporosis, Osteolysis |
ORPHA:95159 |
Marden-Walker Syndrome |
|
Severe short stature, Arachnodactyly, Camptodactyly of finger, Talipes, Joint stiffness, Microgna... |
ORPHA:2461 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Short stature, Metaphyseal widening, Delayed skeletal maturation, R... |
OMIM:219800 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Wide anterior fontanel, Delayed ske... |
ORPHA:85199 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature... |
OMIM:146510 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Growth delay, Palmoplantar... |
ORPHA:79408 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Pes planus, Micrognathia, Osteoporosis, Scoliosis, Failure to thrive |
OMIM:619525 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Kyphosis |
OMIM:141300 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Short stature, Delayed skeletal maturation, Growth delay, Delayed puberty, Generalize... |
ORPHA:391487 |
Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu valgum, Abnormal pelvic gir... |
ORPHA:289 |
Immunodeficiency 47 |
|
Failure to thrive, Joint hypermobility, Cutis laxa |
OMIM:300972 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Noonan Syndrome 14 |
|
Pes planus, Short stature, Short neck, Kyphosis, Pes valgus, Clinodactyly, Limited elbow extension |
OMIM:619745 |
Alstrom Syndrome |
|
Pes planus, Short stature, Accelerated skeletal maturation, Kyphosis, Truncal obesity, Hyperostos... |
OMIM:203800 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
Cornelia De Lange Syndrome 1 |
|
Short stature, Micromelia, Micrognathia, Proximal placement of thumb, Short neck, Delayed skeleta... |
OMIM:122470 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes, Micromelia, Micrognat... |
ORPHA:1908 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Obesity |
ORPHA:261222 |
Zttk Syndrome |
|
Short stature, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Hemiverte... |
OMIM:617140 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Lower limb asymmetry, Micrognathia, Kyphosis, 2-3 toe syndactyly, Postaxia... |
ORPHA:404440 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
OMIM:615084 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Redundant skin, Scoliosis |
ORPHA:96167 |
Micro Syndrome |
|
Short stature, Micrognathia, Joint stiffness, Kyphosis, Scoliosis, Delayed puberty, Intrauterine ... |
ORPHA:2510 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Bone pain, Osteomalacia |
OMIM:600740 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Cutis laxa |
OMIM:270420 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Osteoporosis, Delayed puberty, Weight loss |
ORPHA:91347 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Multiple joint contractures, Small for gestational age, Arachnodactyly, Toe syndac... |
ORPHA:464306 |
Dystonia 1, Torsion, Autosomal Dominant |
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Multiple joint contractures, Hyperlordosis, Kyphosis, Absent Achilles reflex, Scoliosis |
OMIM:128100 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
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Kyphosis, Pes cavus, Scoliosis |
OMIM:610743 |
Spastic Paraplegia 46, Autosomal Recessive |
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Ankle clonus, Kyphosis, Pes cavus, Scoliosis |
OMIM:614409 |
Neonatal Marfan Syndrome |
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Flexion contracture, Small for gestational age, Joint hypermobility, Cutis laxa |
ORPHA:284979 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Joint laxity, Pes planus, Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Lar... |
OMIM:617011 |
Primary Sclerosing Cholangitis |
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Osteopenia, Osteoporosis, Weight loss |
ORPHA:171 |
Robinow Syndrome, Autosomal Dominant 1 |
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Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
Acrocephalopolydactylous Dysplasia |
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Postaxial hand polydactyly, Short neck, Craniosynostosis, Micromelia |
OMIM:200995 |
Alexander Disease |
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Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive |
ORPHA:58 |
Cutis Laxa, Autosomal Recessive, Type Iic |
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Joint laxity, Kyphoscoliosis, Knee flexion contracture, Cutis laxa, Camptodactyly, Decreased body... |
OMIM:617402 |
Multiple Endocrine Neoplasia Type 1 |
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Increased susceptibility to fractures, Weight loss, Osteolysis, Reduced bone mineral density |
ORPHA:652 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
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Pes planus, Arthrogryposis multiplex congenita, Kyphosis, Scoliosis |
OMIM:617143 |
Acral Self-Healing Collodion Baby |
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Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Cardiofacioneurodevelopmental Syndrome |
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Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Bone pain, Osteoporosis |
ORPHA:99880 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Sandal gap, Tapered finger, Micrognathia, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly o... |
OMIM:617061 |
Cutis Laxa, Autosomal Dominant 1 |
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Hyperextensible skin, Redundant skin, Cutis laxa |
OMIM:123700 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
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Kyphosis, Scoliosis |
ORPHA:99014 |
Hardikar Syndrome |
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Short stature, Thoracolumbar scoliosis, Osteoporosis, Growth delay, Failure to thrive |
OMIM:301068 |
Blue Rubber Bleb Nevus |
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Pathologic fracture |
OMIM:112200 |
Ogden Syndrome |
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Redundant neck skin, Redundant skin, Facial wrinkling, Short neck, Eczema, Cutis laxa, Scoliosis |
OMIM:300855 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Redundant neck skin, Small for gestational age, Elevated circulating creatine kinase concentratio... |
OMIM:301056 |
Cerebrocostomandibular Syndrome |
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Short stature, Micrognathia, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Tracheo... |
ORPHA:1393 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax... |
ORPHA:2753 |
Williams-Beuren Syndrome |
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Osteopenia, Joint laxity, Hallux valgus, Failure to thrive in infancy, Down-sloping shoulders, Ky... |
OMIM:194050 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Flexion contracture of finger, Small for gestational age, Ankle flexion contracture, Tapered fing... |
ORPHA:464311 |
Infantile Nephropathic Cystinosis |
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Growth delay, Failure to thrive, Rickets |
ORPHA:411629 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial... |
ORPHA:93271 |
Trichorhinophalangeal Syndrome, Type Ii |
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Osteopenia, Thoracolumbar scoliosis, Redundant skin in infancy, Cutis laxa, Lumbar scoliosis, Sco... |
OMIM:150230 |
Axenfeld-Rieger Syndrome |
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Redundant skin |
ORPHA:782 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Finger syndactyly, Short stature, Cachexia, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
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Kyphosis, Scoliosis |
OMIM:300861 |
Alkaptonuria |
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Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... |
OMIM:203500 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
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Joint laxity, Generalized joint laxity, Hyperextensible skin, Scoliosis, Palmoplantar cutis laxa,... |
OMIM:130080 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Kyphosis, Cutis laxa, Lumbar kyphosis, Scoliosis, Decrea... |
OMIM:303600 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Kyphoscoliosis, Coxa valga, Absent frontal sinuses, Tapered finger, Kyphosis, Postnatal growth re... |
OMIM:301040 |
Zimmermann-Laband Syndrome 2 |
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Kyphosis, Short stature, Short neck |
OMIM:616455 |
Shprintzen-Goldberg Syndrome |
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Osteopenia, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Abnormal form of the vert... |
ORPHA:2462 |
Autosomal Dominant Robinow Syndrome |
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Finger syndactyly, Sacral dimple, Severe short stature, Short stature, Camptodactyly of finger, M... |
ORPHA:3107 |
Cranioectodermal Dysplasia 2 |
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Joint laxity, Syndactyly, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Short neck, ... |
OMIM:613610 |
Gapo Syndrome |
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Joint hypermobility, Redundant skin, Scoliosis |
OMIM:230740 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Genu valgum, Knee flexion contr... |
OMIM:619194 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Joint laxity, Hyperextensibility of the finger joints, Sacral dimple, Hip contracture, Failure to... |
OMIM:619503 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Sc... |
ORPHA:464738 |
Orofaciodigital Syndrome Iii |
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Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Schisis Association |
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Small for gestational age, Micromelia |
ORPHA:63862 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Short stature, Osteoporosis, Hip dysplasia, Scoliosis |
ORPHA:438213 |
Genitopalatocardiac Syndrome |
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Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Intrauterine growth retardation, B... |
ORPHA:2075 |
Endocrine-Cerebroosteodysplasia |
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Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... |
OMIM:612651 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Short neck, Long... |
OMIM:256520 |
Pseudoxanthoma Elasticum |
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Cutis laxa |
OMIM:264800 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
8Q22.1 Microdeletion Syndrome |
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Camptodactyly of finger, Craniosynostosis, Short neck, Limitation of joint mobility, Lack of skin... |
ORPHA:178303 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
ORPHA:352447 |
Cardiofaciocutaneous Syndrome 4 |
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Joint laxity, Hyperextensible skin, Scoliosis |
OMIM:615280 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Short stature, Truncal obesity, Disproportionate short-limb short stature, Limb undergrowth, Intr... |
OMIM:616541 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
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Lack of skin elasticity, Joint stiffness |
ORPHA:1366 |
Alkaptonuria |
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Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Thickened Achilles tend... |
ORPHA:56 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Redundant neck skin |
OMIM:619003 |
Congenital Disorder Of Glycosylation, Type Ia |
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Osteopenia, Kyphosis, Failure to thrive, Flexion contracture |
OMIM:212065 |
46,Xy Partial Gonadal Dysgenesis |
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Delayed skeletal maturation, Osteoporosis, Delayed puberty |
ORPHA:251510 |
Congenital Erythropoietic Porphyria |
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Osteopenia, Osteoporosis, Osteolysis |
ORPHA:79277 |
Congenital Tracheomalacia |
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Tracheomalacia, Tracheobronchomalacia, Failure to thrive, Cutis laxa |
ORPHA:95430 |
Ehlers-Danlos Syndrome, Classic-Like |
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Soft skin, Hyperextensible skin, Joint hypermobility, Striae distensae |
OMIM:606408 |
Acromelic Frontonasal Dysplasia |
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Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Cockayne Syndrome Type 2 |
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Kyphosis, Flexion contracture, Scoliosis, Intrauterine growth retardation |
ORPHA:90322 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Joint laxity, Pes planus, Prominent fingertip pads, Anomaly of lower limb diaphyses, Small for ge... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Joint laxity, Pes planus, Prominent fingertip pads, Anomaly of lower limb diaphyses, Small for ge... |
ORPHA:363958 |
Fontaine Progeroid Syndrome |
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Small for gestational age, Redundant skin, Craniosynostosis, Coronal craniosynostosis, Platyspond... |
OMIM:612289 |
Dyskeratosis Congenita, X-Linked |
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Intrauterine growth retardation, Osteoporosis, Short stature |
OMIM:305000 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
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Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Huriez Syndrome |
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Dry skin, Lack of skin elasticity |
ORPHA:384 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Soft skin, Joint hypermobility, Cutis laxa, Dermal translucency |
OMIM:614437 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestati... |
ORPHA:457359 |
Mend Syndrome |
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Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Long fingers, Kyphosis... |
ORPHA:401973 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Hyperextensibility at elbow, Osteoarthritis, Hyperextens... |
OMIM:130000 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Arthrogryposis multiplex congenita, Redundant neck skin, Short neck |
OMIM:236500 |
Sialidosis Type 1 |
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Short stature, Kyphosis, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Scol... |
ORPHA:812 |
Cornelia De Lange Syndrome |
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Micromelia, Micrognathia, Proximal placement of thumb, Short neck, Clinodactyly of the 5th finger... |
ORPHA:199 |
Carpenter Syndrome 2 |
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Craniosynostosis, Short neck, Obesity, Knee flexion contracture, Cutis laxa, Camptodactyly |
OMIM:614976 |
Emanuel Syndrome |
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Sacral dimple, Multiple joint contractures, Redundant neck skin, Kyphoscoliosis, Scoliosis, Failu... |
ORPHA:96170 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Osteopenia, Joint laxity, Craniosynostosis, Hyperextensible skin, C1-C2 vertebral abnormality, Sc... |
OMIM:182212 |
Lamellar Ichthyosis |
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Pruritus, Dry skin, Lack of skin elasticity, Erythroderma |
ORPHA:313 |
Smith-Lemli-Opitz Syndrome |
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Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... |
OMIM:270400 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
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Thoracolumbar scoliosis, Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Hyperext... |
ORPHA:230851 |
C Syndrome |
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Sacral dimple, Toe syndactyly, Failure to thrive in infancy, Talipes, Micromelia, Micrognathia, S... |
ORPHA:1308 |
Cockayne Syndrome A |
|
Hip contracture, Short stature, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the ph... |
OMIM:216400 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Joint hyperflexibility, Hyperextensible skin, Scoliosis, Striae distensae, Spondylo... |
OMIM:614816 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Talipes calcaneovalgus, Abnormal form of t... |
ORPHA:818 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P... |
OMIM:192350 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Pes planus, Overlapping toe, Reduced bone mineral density, Scoliosis, Clinodactyly of the 5th finger |
OMIM:616682 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Overlapping fingers |
OMIM:619708 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Osteoporosis, Increased body weight, Skin ulcer, Weight loss, Recurrent cutaneous fungal in... |
ORPHA:99889 |
Gapo Syndrome |
|
Decreased skull ossification, Joint hyperflexibility, Hyperextensible skin, Abnormal form of the ... |
ORPHA:2067 |
Cowden Syndrome |
|
Short stature, Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Failure to thrive, Brach... |
ORPHA:201 |
Viss Syndrome |
|
Joint laxity, Joint hypermobility, Eczema, Kyphosis, Generalized joint laxity, Atopic dermatitis,... |
OMIM:619472 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Pituitary dwarfism, Delayed skeletal maturation, Growth delay, Polydactyly, Delayed p... |
ORPHA:95494 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Short stature, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, ... |
ORPHA:1606 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Lon... |
OMIM:300960 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis, Decreased body weight, Intraute... |
OMIM:619005 |
Kleefstra Syndrome Due To A Point Mutation |
|
Tracheomalacia, Failure to thrive, Hyperextensible skin, Large for gestational age |
ORPHA:261652 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Scoliosis, Camptodactyly, Spina bifida occulta, Joint hypermobility |
OMIM:617360 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Eczema, Large for gestational age, Short neck, Hyperextensible skin,... |
OMIM:607721 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... |
OMIM:618223 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Redundant neck skin |
OMIM:617967 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Pituitary dwarfism, Short stature, Delayed skeletal maturation, Growth delay, Delayed... |
ORPHA:90695 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Acne, Scoliosis |
ORPHA:261190 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Postnat... |
OMIM:214800 |
Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Pes planus, Hallux valgus, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the p... |
OMIM:300967 |
Coffin-Siris Syndrome 1 |
|
Joint laxity, Sacral dimple, Sandal gap, Short stature, Aplasia/Hypoplasia of the patella, Aplasi... |
OMIM:135900 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Dry skin, Camptodactyly of finger, Redundant skin |
ORPHA:920 |
Hydrolethalus |
|
Postaxial hand polydactyly, Micromelia, Micrognathia |
ORPHA:2189 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Proportionate short stature, Micrognathia, Delayed skeletal maturation, Growth delay, Mesomelia, ... |
OMIM:613457 |
Zaki Syndrome |
|
Sacral dimple, Hyperextensible skin, Scoliosis |
OMIM:619648 |
Antisynthetase Syndrome |
|
Pruritus, Skin rash, Elevated circulating creatine kinase concentration, Lack of skin elasticity |
ORPHA:81 |
Leukocyte Adhesion Deficiency Type Ii |
|
Overlapping toe, Small for gestational age, Short stature, Limb undergrowth, Intrauterine growth ... |
ORPHA:99843 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Lack of skin elasticity, Osteolyti... |
ORPHA:90153 |
Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, Joint hypermobility, Hyperextensible skin, Scoliosis, Soft, doughy skin, Soft s... |
OMIM:619329 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Cachexia, Craniosynostosis, Joint stiffness, Lowe... |
ORPHA:744 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radi... |
ORPHA:444077 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, 2-3 toe syndactyly, Scoliosis |
OMIM:616449 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Intrauterine growth retardation |
OMIM:619909 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis |
ORPHA:261250 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma |
ORPHA:324737 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Redundant neck skin |
OMIM:611719 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Hyperextensible skin, Joint hypermobility, Scoliosis |
ORPHA:555877 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxial polydactyly, Short ribs |
OMIM:616546 |
Acrofrontofacionasal Dysostosis 2 |
|
Sacral dimple, Redundant neck skin |
OMIM:239710 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:609944 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Soft, doughy skin, Hyperextensible skin, Joint laxity, Dermal translucency |
ORPHA:541423 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Reduced bone mineral density, Growth delay, Fai... |
ORPHA:47159 |
Chromosome 18P Deletion Syndrome |
|
Redundant neck skin, Small for gestational age, Short neck |
OMIM:146390 |
Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Elbow flexion contracture, Spinal canal ... |
OMIM:608328 |
Tetrasomy 5P |
|
Failure to thrive, Redundant neck skin, Short neck |
ORPHA:3309 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin |
OMIM:618652 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Kyphoscoliosis, Long fingers, ... |
ORPHA:79318 |
Kosaki Overgrowth Syndrome |
|
Hyperextensible skin, Thoracolumbar scoliosis, Scoliosis |
OMIM:616592 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Redundant neck skin, Early ossification of capital femoral epiph... |
ORPHA:397715 |
Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Pes planus, Ulnar deviation of the hand, Broad hallux, Recurrent fract... |
ORPHA:2152 |
Papillorenal Syndrome |
|
Soft skin, Joint laxity, Hyperextensible skin, Scoliosis |
OMIM:120330 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Short stat... |
ORPHA:268261 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th... |
ORPHA:51608 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Kyphosis, Scoliosis |
ORPHA:261144 |
Acromegaly |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... |
ORPHA:963 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epiphyseal stippling, Failure to thrive, Redundant neck skin |
OMIM:214100 |
Somatomammotropinoma |
|
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... |
ORPHA:314769 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Back pain, Osteomyelitis, Overweight, Kyphosis, Delayed puberty, Obesity, Genu valg... |
OMIM:619475 |
Fucosidosis |
|
Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Kyphosis, Pes cavus, Scoliosis |
ORPHA:88644 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Camptodactyly |
OMIM:200110 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Osteomalacia, Weight loss |
OMIM:619381 |
Ramon Syndrome |
|
Short stature, Kyphosis, Scoliosis, Decreased body weight, Juvenile rheumatoid arthritis |
OMIM:266270 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Hypoproteinemia, Short neck |
OMIM:235255 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Redundant neck skin, Limited elbow extension, Craniosynostosis |
OMIM:123790 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Redundant neck skin, Flexion contracture, Camptodactyly, Flexion contracture of fin... |
ORPHA:254528 |
Atelis Syndrome 2 |
|
Pes planus, Sacral dimple, Micrognathia, Kyphosis, Clinodactyly |
OMIM:620185 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Dry skin |
OMIM:619244 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheomalacia, Redundant neck skin, Short neck |
OMIM:217980 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Kyphosis, Delayed... |
ORPHA:2273 |
Rett Syndrome, Congenital Variant |
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Pes planus, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
Beckwith-Wiedemann Syndrome |
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Obesity, Redundant skin, Elevated circulating alpha-fetoprotein concentration, Large for gestatio... |
ORPHA:116 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Ankle clonus, Kyphosis, Scoliosis |
OMIM:211530 |
Cowden Syndrome 5 |
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Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Micrognathia |
OMIM:615108 |
Cockayne Syndrome |
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Severe short stature, Cachexia, Postnatal growth retardation, Kyphosis, Growth delay, Contracture... |
ORPHA:191 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Fused cervical ... |
ORPHA:508498 |
Cowden Syndrome 6 |
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Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Micrognathia |
OMIM:615109 |
Noonan Syndrome 10 |
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Palmoplantar cutis laxa, Hyperextensible skin, Scoliosis, Short neck |
OMIM:616564 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Epiphyseal dysplasia, Micromelia, Short neck |
ORPHA:1675 |
Peters Plus Syndrome |
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Sacral dimple, Toe syndactyly, Rhizomelia, Short stature, Micromelia, Micrognathia, Short neck, P... |
ORPHA:709 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Redundant neck skin, Hypoproteinemia, Short neck |
ORPHA:1655 |
Noonan Syndrome 2 |
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Palmoplantar cutis laxa, Arthrogryposis multiplex congenita, Hyperextensible skin, Short neck |
OMIM:605275 |
Noonan Syndrome With Multiple Lentigines |
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Excessive wrinkled skin, Spina bifida occulta, Hyperextensible skin, Scoliosis |
ORPHA:500 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Sacral dimple, Short neck, Hyperlordosis, Excessive wrinkled skin, Hyperextensible skin, Scoliosi... |
OMIM:619950 |
Postencephalitic Parkinsonism |
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Kyphosis, Camptocormia |
ORPHA:97349 |
Cowden Syndrome 1 |
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Kyphosis, Scoliosis, Palmoplantar hyperkeratosis, Micrognathia |
OMIM:158350 |
Classical Ehlers-Danlos Syndrome |
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Osteopenia, Osteoarthritis, Generalized joint laxity, Hyperextensible skin, Scoliosis, Soft, doug... |
ORPHA:287 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
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Redundant neck skin, Small for gestational age |
OMIM:604314 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Accelerated skeletal maturation |
OMIM:300942 |
Branchiooculofacial Syndrome |
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Proximal placement of thumb, Micrognathia, Short neck, Short thumb, Preaxial hand polydactyly, Hy... |
OMIM:113620 |
Vascular Ehlers-Danlos Syndrome |
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Redundant skin, Osteoarthritis, Osteolysis, Excessive wrinkled skin, Joint hyperflexibility, Derm... |
ORPHA:286 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Joint laxity, Recurrent skin infections, Generalized joint laxity, Hyperextensible skin, Distal a... |
OMIM:601776 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Sacral dimple, Redundant neck skin, Eczema, Short neck, Obesity, Soft skin, Failure to thrive |
OMIM:617157 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Cockayne Syndrome Type 3 |
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Kyphosis, Flexion contracture, Mild postnatal growth retardation, Scoliosis |
ORPHA:90324 |
Multiple Benign Circumferential Skin Creases On Limbs |
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Increased number of skin folds |
ORPHA:2505 |
Sotos Syndrome |
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Joint laxity, Hip contracture, Pes planus, Sacrococcygeal teratoma, Ankle flexion contracture, Cr... |
ORPHA:821 |
Hypermobile Ehlers-Danlos Syndrome |
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Osteoarthritis, Limitation of joint mobility, Osteolysis, Joint hyperflexibility, Hyperextensible... |
ORPHA:285 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Redundant neck skin |
ORPHA:2519 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cachexia, Skin ulcer, Hyperextensible skin, Scoliosis, Thoracolumbar kyphosis, Ecchymosis |
ORPHA:2072 |
Triosephosphate Isomerase Deficiency |
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Kyphosis, Failure to thrive |
OMIM:615512 |
Gabriele-De Vries Syndrome |
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Small for gestational age, Craniosynostosis, Hyperextensible skin, Distal arthrogryposis, Finger ... |
ORPHA:506358 |
Costello Syndrome |
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Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Short neck,... |
OMIM:218040 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Joint hyperflexibility, Hyperextensible skin |
ORPHA:1974 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis, Micrognathia |
OMIM:153400 |
Leprechaunism |
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Failure to thrive, Hyperextensible skin, Increased circulating renin level, Decreased body weight |
ORPHA:508 |
Yunis-Varon Syndrome |
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Decreased skull ossification, Absent sternal ossification, Severe failure to thrive, Redundant ne... |
ORPHA:3472 |
Ehlers-Danlos Syndrome, Vascular Type |
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Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Hypermobility of distal int... |
OMIM:130050 |
Down Syndrome |
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Redundant neck skin, Atlantoaxial instability, Joint laxity |
OMIM:190685 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Ankle clonus, Kyphosis, Positional foot deformity |
ORPHA:171629 |
Okamoto Syndrome |
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Redundant neck skin, Joint hypermobility, Scoliosis |
ORPHA:2729 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Redundant neck skin |
OMIM:618164 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Alström Syndrome |
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Pes planus, Thoracic scoliosis, Short stature, Accelerated skeletal maturation, Kyphosis, Short t... |
ORPHA:64 |
Lacrimoauriculodentodigital Syndrome 1 |
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Hyperextensible skin |
OMIM:149730 |