Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... |
ORPHA:93323 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Delayed skeletal maturation, Avascular necrosis, Joint dislocation |
ORPHA:2380 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert... |
ORPHA:66637 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... |
ORPHA:3104 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... |
ORPHA:2756 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Short neck, Craniosynostosis, Humeroradial synostosis, M... |
OMIM:251230 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Mesomelic/rhizomelic ... |
ORPHA:2347 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Wide anterior fontanel, Fibul... |
OMIM:201170 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Death in infancy, Lumb... |
OMIM:256050 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short long bone, Vertebral segmentation defect... |
OMIM:618845 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Ve... |
OMIM:108720 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... |
OMIM:122600 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... |
OMIM:312150 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the... |
ORPHA:1040 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Cryptorchidism, ... |
ORPHA:1307 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... |
ORPHA:2332 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
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 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Edema, Polyh... |
OMIM:253290 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinodactyly of th... |
ORPHA:521308 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, H... |
ORPHA:93315 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... |
OMIM:618433 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Single transverse palmar crease, Sho... |
ORPHA:915 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Scoliosis, Thoracic h... |
ORPHA:1445 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho... |
ORPHA:296 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Ciliary Dyskinesia, Primary, 6 |
|
Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology |
OMIM:610852 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Elbow contracture, Multiple pterygia, Short... |
OMIM:178110 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Branchial cyst, Short neck, Hip dislocation, Hemivertebrae, Short... |
OMIM:615583 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... |
OMIM:156550 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Palmar pits, Cryptorchidism, Hemivertebrae, Vertebral wedging, ... |
ORPHA:377 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Rib fusion, Short r... |
OMIM:173800 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... |
ORPHA:93307 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Ciliary Dyskinesia, Primary, 50 |
|
Coiled sperm flagella, Short sperm flagella, Absent inner dynein arms |
OMIM:620356 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Cryptorchidis... |
OMIM:146510 |
Achondrogenesis, Type Ib |
|
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Hydrops fetalis, Stillbirth, Short ribs, Abs... |
OMIM:600972 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Polyhydramnios, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbe... |
OMIM:151210 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia |
OMIM:620032 |
Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology |
OMIM:612518 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormal respiratory motile cilium morphology |
OMIM:225050 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Should... |
OMIM:606612 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Abnormal fo... |
ORPHA:1837 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology |
ORPHA:922 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp... |
OMIM:274000 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Hydrops fetalis, Knee flexion contr... |
OMIM:265000 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms |
OMIM:613807 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia |
OMIM:617091 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short... |
ORPHA:90652 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... |
ORPHA:1416 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Ciliary Dyskinesia, Primary, 17 |
|
Dynein arm defect of respiratory motile cilia |
OMIM:614679 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar pits, Irregular os... |
OMIM:109400 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Ciliary Dyskinesia, Primary, 28 |
|
Dynein arm defect of respiratory motile cilia |
OMIM:615505 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent outer dynein arms, Absent inner dynein arms |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 32 |
|
Absent respiratory ciliary axoneme radial spokes |
OMIM:616481 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612650 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchi... |
OMIM:206920 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... |
OMIM:108721 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly, Oligohydramnios |
ORPHA:3016 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Abnormal ... |
ORPHA:2522 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Cryptorchidism, Delaye... |
OMIM:148050 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Osteoarthritis, Square... |
OMIM:618000 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... |
ORPHA:3027 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Umbilical hernia, Short foot, Oligodactyly |
OMIM:619758 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Neonata... |
OMIM:245650 |
Achondroplasia |
|
Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized joint laxity, Femoral bowi... |
OMIM:100800 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Microphthalmia With Limb Anomalies |
|
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... |
ORPHA:1106 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... |
OMIM:118100 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Cryptorchid... |
ORPHA:2879 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna |
OMIM:276822 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Shoulder girdle muscle we... |
OMIM:607155 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Broad long bones, Edema, Short tubular bones of the hand, P... |
OMIM:200610 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms |
OMIM:614874 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the vertebral bodies, ... |
ORPHA:1788 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Madelung d... |
OMIM:249700 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... |
OMIM:213980 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Cryptorchidism, Short toe, Limita... |
OMIM:139210 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... |
OMIM:609945 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms |
OMIM:614017 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Short neck, Accelerated skeletal maturation, Vertebra... |
ORPHA:373 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms |
OMIM:612444 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibili... |
ORPHA:96169 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Cryptorchidism, Meningocele, Sclerosis of skull base, Sco... |
OMIM:130720 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El... |
ORPHA:2538 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Cryptorchidism, Hypotrophy of... |
OMIM:610443 |
Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Mesoaxial polydactyly, Radial bowing, Cryptorchidism, Rib fusion, Umbilical hernia... |
ORPHA:672 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bo... |
OMIM:276820 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Polyhydramnios, Facial edema, Abnormal cartilage matrix, Epiphyseal stippling, ... |
ORPHA:86822 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor... |
OMIM:271665 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused ... |
ORPHA:1724 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms |
OMIM:615500 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... |
OMIM:211350 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Missing ribs, ... |
OMIM:617866 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms |
OMIM:618801 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Ciliary Dyskinesia, Primary, 30 |
|
Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Joint stiff... |
ORPHA:199 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... |
OMIM:227330 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Spina bifida, Missing ribs, Hemivertebrae, Rib fusi... |
OMIM:304050 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... |
ORPHA:97360 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoe... |
OMIM:194190 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Cryptorchidism, Hemivertebrae, Rib fusion, Supernumerary ribs, Bu... |
OMIM:206900 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3035 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervical vertebrae, Short femoral nec... |
OMIM:617159 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Scolios... |
ORPHA:50 |
Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Deep palmar crease, Sc... |
OMIM:617190 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Scoliosis, Anterior encephalocele |
OMIM:601357 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosi... |
OMIM:617796 |
Atelosteogenesis Type Iii |
|
Polyhydramnios, Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypopla... |
ORPHA:56305 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femor... |
OMIM:304120 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Ciliary Dyskinesia, Primary, 38 |
|
Absent inner and outer dynein arms |
OMIM:618063 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly |
OMIM:149000 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig... |
ORPHA:69085 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Kyphosis, Dela... |
ORPHA:2273 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:614935 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Nasal polyposis |
OMIM:244400 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Areflexia of upper limbs, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C... |
ORPHA:268882 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:615444 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... |
OMIM:157800 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... |
OMIM:154400 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short... |
OMIM:613458 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Cryptorchid... |
OMIM:122470 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn... |
ORPHA:1225 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Adult-Onset Still Disease |
|
Cartilage destruction, Joint swelling, Arthritis |
ORPHA:829 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Polyhydramnios, Myelomeningoc... |
OMIM:306955 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion ... |
OMIM:268300 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Keutel Syndrome |
|
Calcification of cartilage, Short distal phalanx of finger |
ORPHA:85202 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Cryptorchidism, Brachydactyly |
OMIM:616368 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contracture of the distal inter... |
ORPHA:83617 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Edema, Polyhydra... |
ORPHA:51608 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... |
ORPHA:444077 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... |
ORPHA:79474 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling |
ORPHA:29207 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoar... |
OMIM:613795 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Ge... |
OMIM:164210 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteolysis, Osteochondrosis |
ORPHA:2396 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Polyhydramnios, ... |
OMIM:214800 |
Ciliary Dyskinesia, Primary, 20 |
|
Absent outer dynein arms |
OMIM:615067 |
Elsahy-Waters Syndrome |
|
Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Ce... |
OMIM:211380 |
Tracheobronchopathia Osteochondroplastica |
|
Calcification of cartilage |
ORPHA:3348 |
Aprosencephaly Syndrome |
|
Anencephaly, Hand oligodactyly |
OMIM:207770 |
Digeorge Syndrome |
|
Pilonidal sinus, Hydrocele testis, Patellar dislocation, Scoliosis, Umbilical hernia, Interverteb... |
OMIM:188400 |
Congenital Fibrosis Of Extraocular Muscles |
|
Hand oligodactyly |
ORPHA:45358 |