| Scoliosis, Isolated, Susceptibility To, 1 |
|
Scoliosis |
OMIM:181800 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... |
OMIM:102510 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta |
ORPHA:2956 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae |
OMIM:616566 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Scoliosis, Genu valgum, Abnormal bone ossification, Elbow dislocation, Cleft palate, Flattened ep... |
ORPHA:166016 |
| Spondylosis, Cervical |
|
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis, Osteoarthritis |
OMIM:184300 |
| Acrofacial Dysostosis, Palagonia Type |
|
Scoliosis, Short 4th metacarpal, Oligodontia, Abnormal vertebral morphology, Spina bifida occulta... |
OMIM:601829 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Sprengel Deformity |
|
Scoliosis, Cervical segmentation defect, Hemivertebrae, Spina bifida occulta, Rib segmentation ab... |
OMIM:184400 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Scoliosis, Hyperlordosis, Posterior rib fusion, Missing ribs, Spina bifida occulta, Cleft palate,... |
ORPHA:1797 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Missing ribs, S... |
OMIM:613686 |
| Posterior Column Ataxia |
|
Scoliosis |
OMIM:176250 |
| Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Scoliosis, Camptodactyly of finger, Abnormality of lower limb joint |
ORPHA:85164 |
| Gluteal Muscles, Absence Of |
|
Scoliosis, Spina bifida occulta |
OMIM:231970 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... |
ORPHA:64754 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal ilium morphology, Platyspondyly, Abnormality of the knee, Abnormal vertebral morphology,... |
ORPHA:163665 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality, Slender long bone, Spina bifida occulta... |
ORPHA:2840 |
| Spondylocamptodactyly Syndrome |
|
Scoliosis, Platyspondyly |
ORPHA:3180 |
| Brachyolmia Type 1, Hobaek Type |
|
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Osteopeni... |
OMIM:271530 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Thoracic kyphosis, Long toe, Cleft lip, Cleft palate |
OMIM:300263 |
| Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Anencephaly, Absence of the sacrum, Spina bifida occulta, Myelomeningocele, Hydroc... |
OMIM:182940 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... |
OMIM:616583 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the dentition, Abnormality of the metacarpa... |
ORPHA:3104 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... |
OMIM:609223 |
| Nemaline Myopathy 9 |
|
Scoliosis, High palate, Arthrogryposis multiplex congenita, Cleft palate |
OMIM:615731 |
| Rhizomelic Chondrodysplasia Punctata |
|
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Abnormality of the dentitio... |
ORPHA:177 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... |
OMIM:183802 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... |
OMIM:617719 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Back pain, Lumbar hyperlordos... |
OMIM:169550 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Ovoid ve... |
OMIM:609052 |
| White Forelock With Malformations |
|
Finger syndactyly, Joint hyperflexibility, Abnormal palate morphology, Deep philtrum, Spina bifid... |
ORPHA:2475 |
| Neuronal Intranuclear Inclusion Disease |
|
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies |
ORPHA:2289 |
| Parastremmatic Dwarfism |
|
Scoliosis, Kyphosis, Short neck |
OMIM:168400 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... |
OMIM:618728 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga |
OMIM:271620 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Flat distal femoral epiphysis, Platyspondyly, Irregularity of vertebral bodies, Genu valgum, Prox... |
OMIM:609324 |
| Anauxetic Dysplasia 1 |
|
Platyspondyly, Cervical cord compression, Delayed ossification of carpal bones, Hypoplastic ilia,... |
OMIM:607095 |
| Mental Retardation, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... |
OMIM:604864 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Spina bifida occulta, Short palm |
OMIM:101805 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Symbrachydactyly Of Hands And Feet |
|
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... |
ORPHA:1570 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... |
ORPHA:2619 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Genu varum, Hyperconvex v... |
OMIM:184255 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... |
OMIM:617974 |
| Spondylocamptodactyly |
|
Scoliosis, Cervical platyspondyly |
OMIM:600000 |
| Cleidocranial Dysplasia |
|
Scoliosis, Open bite, Carious teeth, Abnormal dental enamel morphology, Wormian bones, Abnormalit... |
ORPHA:1452 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... |
ORPHA:750 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Thin vermilion border, Short philtrum, Downturned corners of mouth, Kyphosis, Reduce... |
ORPHA:2983 |
| Autosomal Dominant Brachyolmia |
|
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis |
ORPHA:93304 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Long philtrum, Camptodactyly of finger, Abnormal form of the vertebral bodies, Finger ... |
ORPHA:2311 |
| Fountain Syndrome |
|
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Kyphos... |
ORPHA:3219 |
| Tibial Torsion, Bilateral Medial |
|
Scoliosis, Abnormality of tibia morphology, Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Three M Syndrome 1 |
|
Hyperlordosis, Long philtrum, Increased vertebral height, Joint hypermobility, Thick lower lip ve... |
OMIM:273750 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Multiple small vertebral fractures, Platyspondyly, Thin vermilion border, Short philtrum, Short m... |
OMIM:156510 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Dysspondyloenchondromatosis |
|
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Anisospondyly, Metaphyseal enchondromatos... |
ORPHA:85198 |
| Hypertrichosis, Congenital Generalized |
|
Scoliosis |
OMIM:307150 |
| Acrofacial Dysostosis, Palagonia Type |
|
Scoliosis, Short 4th metacarpal, Oligodontia, Abnormal form of the vertebral bodies, Finger synda... |
ORPHA:1787 |
| Metatropic Dysplasia |
|
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... |
OMIM:156530 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthritis, Cleft palate,... |
OMIM:184840 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Scoliosis, Hyperlordosis, Delayed eruption of teeth, Large iliac wing, Osteopetrosis, High iliac ... |
ORPHA:2780 |
| Isotretinoin Syndrome |
|
Cleft palate, Sacral dimple, Spina bifida occulta |
ORPHA:2305 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals |
OMIM:269630 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis, Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:2501 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum |
OMIM:608361 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip dysplasia, Platyspondyly, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Abno... |
ORPHA:99642 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Long philtrum, Dental crowding, Pierre-Robin sequence, Everted lower lip vermilion, Short 5th met... |
OMIM:617877 |
| Becker Nevus Syndrome |
|
Scoliosis, Abnormality of tibia morphology, Kyphosis, Rib fusion, Spina bifida occulta, Supernume... |
ORPHA:64755 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Scoliosis, Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Spina bifida ... |
OMIM:618736 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Hip dysplasia, Intervertebral disc degeneration, Genu valgum,... |
ORPHA:93311 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm |
ORPHA:168555 |
| Pyle Disease |
|
Scoliosis, Platyspondyly, Carious teeth, Genu valgum, Delayed eruption of teeth, Limited elbow ex... |
OMIM:265900 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Joint hypermobility, Wormian bones, Biconcave vertebral bodies, Recurrent fracture... |
OMIM:610967 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Macroorchidism, Long penis, Oligospermia |
ORPHA:3000 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Platyspondyly, Oligodontia, Genu valgum, Metaphyseal irregularity, Narrow iliac wing, Irregular v... |
OMIM:601668 |
| Czech Dysplasia |
|
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... |
OMIM:609162 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Carious teeth, Small epiphyses, Short femoral neck, High palate, Advanced ossification... |
OMIM:618363 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Cubitus valgus, Downturned corners of mouth, Genu recurvatum, Joint hyperflexibility, Thick vermi... |
ORPHA:1185 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... |
ORPHA:93359 |
| Disorganization, Mouse, Homolog Of |
|
Sacral meningocele, Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip disloc... |
OMIM:223200 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... |
ORPHA:1159 |
| Sillence Syndrome |
|
Scoliosis, Large iliac wing, Abnormal proximal phalanx morphology of the hand, Broad thumb, Campt... |
ORPHA:3168 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral... |
ORPHA:2114 |
| Gordon Syndrome |
|
Scoliosis, Camptodactyly of finger, Finger syndactyly, Cleft palate, High palate, Clinodactyly of... |
ORPHA:376 |
| Craniosynostosis 6 |
|
Scoliosis, Delayed cranial suture closure, Craniosynostosis, Spina bifida occulta |
OMIM:616602 |
| Arthrogryposis, Distal, Type 2A |
|
Scoliosis, Pursed lips, Restricted neck movement due to contractures, Narrow mouth, Dental crowdi... |
OMIM:193700 |
| Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Intervertebral space narrowing... |
OMIM:271630 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Anterior r... |
OMIM:184250 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
| Gnathodiaphyseal Dysplasia |
|
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... |
ORPHA:53697 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Platyspondyly, Delayed pubic bone ossification, Abnormal hip... |
ORPHA:1856 |
| Brachyolmia, Maroteaux Type |
|
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Acrocraniofacial Dysostosis |
|
Genu valgum, Short philtrum, Craniosynostosis, Broad thumb, Abnormal form of the vertebral bodies... |
ORPHA:949 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... |
ORPHA:40 |
| Sprengel Deformity |
|
Abnormal shoulder morphology, Short neck, Cleft palate |
ORPHA:3181 |
| Dyssegmental Dysplasia With Glaucoma |
|
Platyspondyly, Wide anterior fontanel, Broad long bones, Cleft palate, Short long bone, Flared me... |
OMIM:601561 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Neu-Laxova Syndrome 2 |
|
Scoliosis, Rocker bottom foot, Cleft palate, High palate, Short neck |
OMIM:616038 |
| Osteogenesis Imperfecta, Type Ix |
|
Scoliosis, Platyspondyly, Wormian bones, Kyphosis, Beaded ribs, Recurrent fractures, Decreased ca... |
OMIM:259440 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Short neck, Abnormal vertebral morphology, Cleft palate |
ORPHA:2015 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... |
OMIM:222600 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Limited elbow extension, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac... |
OMIM:608728 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... |
OMIM:609616 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... |
ORPHA:93284 |
| Metatropic Dysplasia |
|
Scoliosis, Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abno... |
ORPHA:2635 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... |
ORPHA:93316 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... |
ORPHA:174 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... |
OMIM:609813 |
| Progressive Pseudorheumatoid Dysplasia |
|
Metaphyseal widening, Platyspondyly, Camptodactyly of finger, Osteoporosis, Enlarged interphalang... |
OMIM:208230 |
| Carpenter Syndrome 1 |
|
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Metatarsus adductus, Sp... |
OMIM:201000 |
| Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures |
|
Wormian bones, Abnormality of the dentition, Abnormal joint morphology, Moderate generalized oste... |
OMIM:166230 |
| Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, 3-4 finger syndactyly, Radial deviati... |
ORPHA:2437 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation |
ORPHA:85174 |
| Bruck Syndrome 1 |
|
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, P... |
OMIM:259450 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Scoliosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Lumbar hyperlordosis... |
OMIM:602484 |
| Megalencephaly |
|
Atrial septal defect, Macroorchidism, Long penis |
ORPHA:2477 |
| Aase-Smith Syndrome |
|
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Multiple joint contractures... |
ORPHA:916 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Platyspondyly, Dumbbell-shaped femur, Coronal cleft vertebrae, Hitchhiker thumb, Short... |
OMIM:256050 |
| Pseudoachondroplasia |
|
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... |
OMIM:177170 |
| Arthrogryposis, Distal, Type 1C |
|
Scoliosis, Pursed lips, Thin vermilion border, Rocker bottom foot, Shoulder flexion contracture, ... |
OMIM:619110 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly, Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Osteoa... |
OMIM:271600 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... |
ORPHA:166011 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... |
ORPHA:983 |
| Hall-Riggs Mental Retardation Syndrome |
|
Scoliosis, Platyspondyly, Enamel hypoplasia, Osteoporosis, Thick lower lip vermilion, Hypoplasia ... |
OMIM:234250 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Enlarged joints, Kyphosis, Short finger, Sclerosis of skull base, Thoracolumbar sc... |
OMIM:313420 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Limited... |
OMIM:271650 |
| Hypertelorism And Tetralogy Of Fallot |
|
Long philtrum, Spina bifida occulta |
OMIM:239711 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormality of the vertebral column, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip... |
ORPHA:294975 |
| Split Cord Malformation Type I |
|
Scoliosis |
ORPHA:1671 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Platyspondyly, Short philtrum, Delayed eruption of teeth, Cone-shaped epiphysis, De... |
ORPHA:71267 |
| 3Mc Syndrome |
|
Scoliosis, Hyperlordosis, Craniosynostosis, Radioulnar synostosis, Downturned corners of mouth, U... |
ORPHA:293843 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... |
OMIM:612847 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Scoliosis, Hip dysplasia, Thin vermilion border, Narrow mouth, Abnormal form of the vertebral bod... |
ORPHA:2370 |
| Mucolipidosis Type Iii |
|
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... |
ORPHA:577 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... |
OMIM:608940 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... |
ORPHA:2631 |
| Catel-Manzke Syndrome |
|
Scoliosis, Camptodactyly of finger, Abnormality of epiphysis morphology, Joint hyperflexibility, ... |
ORPHA:1388 |
| Larsen Syndrome |
|
Scoliosis, Short metatarsal, Joint laxity, Elbow dislocation, Spinal cord compression, Spina bifi... |
OMIM:150250 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Platyspondyly, Dislocated radial head, Multiple joint dislocation, Joint laxity, Metap... |
OMIM:618395 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Abnormal digit morphology, Cleft upper lip, Spina bifida occulta, Cleft palate |
OMIM:268850 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Platyspondyly, Thin vermilion border, Joint laxity, Metaphyseal irregularit... |
OMIM:602557 |
| Greenberg Dysplasia |
|
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Anterior rib pu... |
ORPHA:1426 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Osteoarthritis, Abnormality of epiphysis morphology |
ORPHA:93283 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Ovoid vertebral bodies, Kyphosis... |
ORPHA:93315 |
| Pycnodysostosis |
|
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Carious teeth, Delayed eruptio... |
OMIM:265800 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Scoliosis, Hip dysplasia, Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Sh... |
OMIM:226900 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Joint hypermobility, Joint hyperflexibility, Spina bifida occulta |
ORPHA:230839 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Cryptorchidism, Microphallus, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis |
OMIM:614840 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoporosis, Platyspondyly, Abnormality of the ribs, Genu valgum, Short metatarsal, Upper limb u... |
ORPHA:93351 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Scoliosis, Abnormality of the tongue, Long philtrum, Camptodactyly of finger, Arthrogryposis mult... |
ORPHA:2990 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sp... |
ORPHA:1646 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones o... |
ORPHA:93346 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism |
OMIM:300624 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Pursed lips, Platyspondyly, Narrow mouth, Deep philtrum, Flexion contracture, Absent ossification... |
OMIM:245160 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Finger syndactyly, Abnormal palate morphology, Smooth philtrum, Abnormality of the... |
ORPHA:1786 |
| Hypochondroplasia |
|
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Joint hyperflexibilit... |
ORPHA:429 |
| Gm1-Gangliosidosis, Type Iii |
|
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... |
OMIM:156500 |
| Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Delayed closure of the anterior fontanelle, Dental crowding, Camptodactyly, Natal toot... |
OMIM:300373 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... |
OMIM:184252 |
| Osteogenesis Imperfecta, Type Xiii |
|
Scoliosis, Platyspondyly, Thin vermilion border, Long philtrum, Dislocated radial head, Joint hyp... |
OMIM:614856 |
| Frontometaphyseal Dysplasia |
|
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx... |
ORPHA:1826 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries |
ORPHA:393 |
| Diaphanospondylodysostosis |
|
Short neck, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fu... |
ORPHA:66637 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Azoospermia, Cryptozoospermia |
OMIM:617960 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis, Abnormality of epiphysis morphology, Anal atresia, Lower limb undergrow... |
ORPHA:2310 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Irregularity of vertebral bodies, Short palm, Small hand, Cone-shaped epiphyses of... |
ORPHA:85172 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Scoliosis, Finger clinodactyly, Broad hallux, Long hallux, Osteopenia, Arachnodactyly, Epiphyseal... |
OMIM:615923 |
| Baller-Gerold Syndrome |
|
Scoliosis, Narrow mouth, Lambdoidal craniosynostosis, Aphalangy of the hands, Limited shoulder mo... |
OMIM:218600 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Scoliosis, Hip dysplasia, Knee dislocation, Hip dislocation, Hammertoe |
ORPHA:370943 |
| Smith-Mccort Dysplasia 1 |
|
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... |
OMIM:607326 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the tongue, Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyl... |
ORPHA:3098 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Scoliosis, Platyspondyly, Hip osteoarthritis, Kyphosis, Irregular epiphyses, Hypoplastic iliac wi... |
OMIM:313400 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal femoral neck/head morphology, Downturned corners of mouth, Thoracic kyphosis, Ovoid vert... |
ORPHA:163649 |
| Spinal Dysplasia, Anhalt Type |
|
Narrow anterio-posterior vertebral body diameter, Thoracic hemivertebrae, Spinal dysplasia, Thora... |
OMIM:601344 |
| Bruck Syndrome |
|
Scoliosis, Platyspondyly, Osteoporosis, Arthrogryposis multiplex congenita, Wormian bones, Kyphos... |
ORPHA:2771 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Irregular... |
OMIM:602111 |
| Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Platyspondyly, Joint hypermobility, Recurrent fractures, Thin ribs, Bowing of limbs du... |
OMIM:615220 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow... |
OMIM:602271 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Ec... |
ORPHA:2345 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Joint laxity, Short femoral neck, High palate, Flat capital femoral epip... |
OMIM:612350 |
| Distal Monosomy 10Q |
|
Hip dysplasia, Craniosynostosis, Short metatarsal, Smooth philtrum, Sandal gap, Lumbar hyperlordo... |
ORPHA:96148 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Scoliosis, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Spina bifida occulta, Rectal ... |
OMIM:235510 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Autosomal Recessive Stickler Syndrome |
|
Platyspondyly, Genu valgum, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula... |
ORPHA:250984 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Duodenal atresia, Spina bifida occulta, Fused ce... |
OMIM:619227 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Ovoid vertebral bodies, Large elb... |
OMIM:253000 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... |
ORPHA:1427 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Kyphosis |
ORPHA:2786 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... |
OMIM:144750 |
| Odontochondrodysplasia 1 |
|
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... |
OMIM:184260 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis |
OMIM:612913 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal... |
OMIM:215150 |
| 3Mc Syndrome 1 |
|
Wide anterior fontanel, Radioulnar synostosis, Dental crowding, Single interphalangeal crease of ... |
OMIM:257920 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Avascul... |
OMIM:184100 |
| Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
|
Platyspondyly, Flattened femoral head, Lumbar hyperlordosis, Clinodactyly, Short neck, Epiphyseal... |
OMIM:184000 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Scoliosis, Posterior scalloping of vertebral bodies, Congenital hip dislocation, Metaphyseal irre... |
OMIM:603546 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect, Cleft palate |
OMIM:221950 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteoporosis, Platyspondyly, Abnormality of the knee, Abnormality of dental morphology, Metaphyse... |
ORPHA:319195 |
| Alagille Syndrome |
|
Short philtrum, Abnormal form of the vertebral bodies, Hypoplasia of the ulna, Short distal phala... |
ORPHA:52 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Platyspondyly, Flexion contracture, Flattened epiphysis, Abnormality of the metaphysis, Short fem... |
ORPHA:157965 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Gastroesophageal reflux, Macroorchidism |
ORPHA:908 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Ovoid vertebral bodies, Cervical ... |
OMIM:253010 |
| Desbuquois Dysplasia 1 |
|
Scoliosis, Short metatarsal, Narrow mouth, Joint laxity, Phalangeal dislocation, Broad first meta... |
OMIM:251450 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... |
OMIM:618469 |
| Brachyolmia Type 3 |
|
Scoliosis, Platyspondyly, Proximal femoral metaphyseal irregularity, Kyphosis, Radial deviation o... |
OMIM:113500 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Scoliosis, Platyspondyly, Carious teeth, Osteoporosis, Recurrent fractures, Osteopenia, Femoral b... |
OMIM:126550 |
| Kuskokwim Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the radius, Aplasia/Hypop... |
ORPHA:1149 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnormality of epiph... |
ORPHA:90653 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly, Elbow dislocation, Hypoplasia of the odontoid process, Phalangeal dislo... |
OMIM:264180 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Short philtrum, Abnormality of the ribs, Downturned corners of mouth, Abnormality ... |
ORPHA:93267 |
| Kniest Dysplasia |
|
Platyspondyly, Enlarged joints, Delayed epiphyseal ossification, Coronal cleft vertebrae, Hypopla... |
OMIM:156550 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Spinal cord compression, Flat acetabular roof, Small epiphyses, Short femoral neck, Sh... |
ORPHA:94068 |
| Schneckenbecken Dysplasia |
|
Anterior rib cupping, Advanced tarsal ossification, Metaphyseal irregularity, Ovoid vertebral bod... |
OMIM:269250 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Brachydactyly, F... |
ORPHA:1436 |
| Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondral junctions, S... |
OMIM:187601 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lumbar platyspondyly, Lytic defects of humeral diaphysis, ... |
OMIM:601376 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Kyphosis, Anterior tibial bowing, Fibular bowing, Horizontal sacr... |
OMIM:112350 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Atlantoaxial instability, Platyspondyly, Delayed pubic bone ossification, Pierre-Robin... |
OMIM:183900 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly, Deformed humeral heads, Short metatarsal, Short humerus, Coxa vara, Short metacarp... |
OMIM:601438 |
| Dental Anomalies And Short Stature |
|
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Herniation of intervertebral nuclei, Interve... |
OMIM:601216 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Platyspondyly, Joint laxity, Long upper lip, Carpal synostosis, Flared metaphysis, Hip dislocatio... |
OMIM:615349 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Narrow mouth, Downturned corne... |
OMIM:211910 |
| Mucopolysaccharidosis Type 4 |
|
Scoliosis, Platyspondyly, Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Genu v... |
ORPHA:582 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... |
ORPHA:93352 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Platyspondyly, Wormian bones, Flared iliac wing, Thoracic kyphosis, Short f... |
OMIM:300232 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, D... |
ORPHA:93360 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Scoliosis, Platyspondyly, Genu valgum, Enlarged joints, Abnormality of epiphysis morphology, Kyph... |
ORPHA:93314 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Hypoplastic ilia, Decreased cranial base ossification, Metaphyseal cu... |
OMIM:151210 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Craniosynostosis, Toe syndactyly, Anal stenosis, Thin upper lip vermilion, Rectovaginal fistula, ... |
OMIM:300707 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dis... |
ORPHA:90650 |
| Dysosteosclerosis |
|
Oligodontia, Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to... |
OMIM:224300 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Platyspondyly, Abnormal cartilage matrix, Wide anterior fontanel, Coronal c... |
ORPHA:2347 |
| Poland Syndrome |
|
Scoliosis, Absent hand, Split hand, Hemivertebrae, Unilateral brachydactyly, Spina bifida occulta... |
ORPHA:2911 |
| Odontochondrodysplasia |
|
Scoliosis, Platyspondyly, Delayed eruption of teeth, Square pelvis bone, Joint hyperflexibility, ... |
ORPHA:166272 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Thin upper lip vermilion,... |
OMIM:617866 |
| Spondylocostal Dysostosis 5 |
|
Scoliosis, Posterior rib fusion, Low back pain, Supernumerary ribs, Hemivertebrae, Vertebral fusi... |
OMIM:122600 |
| Dubowitz Syndrome |
|
Scoliosis, Craniosynostosis, Broad thumb, Sandal gap, Metatarsus adductus, Spina bifida occulta, ... |
ORPHA:235 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Squared iliac bones, Lumbar platyspondyly, Beaking of vertebral bodies, Short ribs, Coarse metaph... |
OMIM:618961 |
| Maxillonasal Dysplasia |
|
Scoliosis, Open bite, Tooth agenesis, Short distal phalanx of finger, Aplasia/Hypoplasia of the d... |
ORPHA:1248 |
| Osteogenesis Imperfecta, Type Xix |
|
Scoliosis, Biconcave vertebral bodies, Recurrent fractures, Osteopenia, Vertebral wedging |
OMIM:301014 |
| Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia |
|
Scoliosis, Camptodactyly, Joint contracture of the hand, Hammertoe, Arachnodactyly |
OMIM:211930 |
| Townes-Brocks Syndrome 2 |
|
Scoliosis, Rectovaginal fistula, Anal atresia, Spina bifida occulta |
OMIM:617466 |
| Gm1-Gangliosidosis, Type Ii |
|
Platyspondyly, Coxa valga |
OMIM:230600 |
| Osteogenesis Imperfecta, Type Xxi |
|
Scoliosis, Platyspondyly, Joint hypermobility, Osteoporosis, Wormian bones, Recurrent fractures, ... |
OMIM:619131 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplastic iliac wing, Metaphyseal cupping, T... |
OMIM:300863 |
| Weismann-Netter Syndrome |
|
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... |
ORPHA:3344 |
| Orofaciodigital Syndrome V |
|
Scoliosis, Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulat... |
OMIM:174300 |
| X-Linked Intellectual Disability, Abidi Type |
|
Scoliosis, Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Short neck, Fused cerv... |
OMIM:214300 |
| Stickler Syndrome, Type I |
|
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Pierre-Robin sequence, Kyphosis, Spondylol... |
OMIM:108300 |
| Van Esch-O'Driscoll Syndrome |
|
Scoliosis, Bifid uvula, Spina bifida occulta |
OMIM:301030 |
| Zimmermann-Laband Syndrome 1 |
|
Scoliosis, Delayed eruption of teeth, Gingival fibromatosis, Short distal phalanx of toe, Umbilic... |
OMIM:135500 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... |
ORPHA:324410 |
| Diastrophic Dwarfism |
|
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... |
ORPHA:628 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Wormian bones, Broad long bones, Beaded ribs, Absent ossification of calvaria, Rec... |
OMIM:166210 |
| Popliteal Pterygium Syndrome |
|
Cleft palate, Cutaneous finger syndactyly, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Sp... |
OMIM:119500 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta |
OMIM:618060 |
| Metaphyseal Acroscyphodysplasia |
|
Scoliosis, Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... |
OMIM:250215 |
| Duane-Radial Ray Syndrome |
|
Scoliosis, Hypoplasia of the radius, Aplasia of metacarpal bones, Anal stenosis, Preaxial polydac... |
OMIM:607323 |
| Ulnar Hemimelia |
|
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Limited shoulder movement, Duplica... |
ORPHA:93320 |
| Keratoconus Posticus Circumscriptus |
|
Short neck, Cleft palate, Limited elbow extension and supination, Cleft upper lip, Abnormal verte... |
OMIM:244600 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Limited elbow extension... |
ORPHA:239 |
| Geroderma Osteodysplasticum |
|
Osteoporosis, Platyspondyly, Wormian bones, Biconcave vertebral bodies, Beaking of vertebral bodi... |
OMIM:231070 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism |
ORPHA:776 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
| Au-Kline Syndrome |
|
Scoliosis, Hip dysplasia, Oligodontia, Craniosynostosis, Downturned corners of mouth, Open mouth,... |
OMIM:616580 |
| Atelosteogenesis, Type Iii |
|
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Elbow dislocati... |
OMIM:108721 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular carpal bones, Hip subluxation, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... |
OMIM:226980 |
| Kniest Dysplasia |
|
Spinal cord compression, Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage col... |
ORPHA:485 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Spina bifida occulta, Short foot, Abnormality of the ribs, Osteopenia, Short neck, Th... |
ORPHA:488434 |
| Bruck Syndrome 2 |
|
Platyspondyly, Wormian bones, Flexion contracture, Pterygium, Increased susceptibility to fractur... |
OMIM:609220 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism |
OMIM:300055 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Long philtrum, Smooth philtrum, Hemivertebrae, Thin upper lip vermilion, Syndactyly, Cleft palate... |
OMIM:614701 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Scoliosis, Hypoplastic sacrum, Platyspondyly, Distal ulnar hypoplasia, Genu valgum, Hypoplastic p... |
OMIM:304950 |
| Duane Retraction Syndrome |
|
Triphalangeal thumb, Hypoplasia of the radius, Preaxial hand polydactyly, Abnormal form of the ve... |
ORPHA:233 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... |
ORPHA:52901 |
| Osteogenesis Imperfecta, Type Xvii |
|
Scoliosis, Platyspondyly, Osteoporosis, Thin metacarpal cortices, Vertebral compression fracture |
OMIM:616507 |
| Ollier Disease |
|
Platyspondyly, Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffn... |
ORPHA:296 |
| Desbuquois Dysplasia 2 |
|
Broad thumb, Short phalanx of finger, Joint laxity, Dental crowding, Flat acetabular roof, Toe cl... |
OMIM:615777 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Platyspondyly, Abnormality of the intervertebral disk, Joint stiffness, Osteoarthritis |
ORPHA:1345 |
| Femoral-Facial Syndrome |
|
Scoliosis, Long philtrum, Hip dysplasia, Short femur, Abnormality of pelvic girdle bone morpholog... |
ORPHA:1988 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Fused cervical v... |
OMIM:309620 |
| Chst3-Related Skeletal Dysplasia |
|
Scoliosis, Long philtrum, Delayed eruption of teeth, Genu valgum, Cubitus valgus, Enlarged joints... |
ORPHA:263463 |
| Sheldon-Hall Syndrome |
|
Scoliosis, Overlapping fingers, Tarsal synostosis, Adducted thumb, Aplasia/Hypoplasia of the radi... |
ORPHA:1147 |
| Fibrochondrogenesis 1 |
|
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Long p... |
OMIM:228520 |
| Dyggve-Melchior-Clausen Disease |
|
Scoliosis, Short metatarsal, Thoracic kyphosis, Carpal bone hypoplasia, Camptodactyly, Iliac cres... |
OMIM:223800 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Craniosynostosis, Overlapping toe, Osteopenia, Thick vermilion border, Tented uppe... |
OMIM:616723 |
| Osteogenesis Imperfecta, Type Viii |
|
Scoliosis, Platyspondyly, Radial bowing, Wormian bones, Wide anterior fontanel, Joint laxity, Kyp... |
OMIM:610915 |
| Fibrodysplasia Ossificans Progressiva |
|
Scoliosis, Small cervical vertebral bodies, Short hallux, Short 1st metacarpal, Ectopic ossificat... |
OMIM:135100 |
| Cantu Syndrome |
|
Short hallux, Platyspondyly, Long philtrum, Erlenmeyer flask deformity of the femurs, Hypoplastic... |
OMIM:239850 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli... |
ORPHA:457395 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of the long bones, Metaphyseal cu... |
ORPHA:85166 |
| Dysosteosclerosis |
|
Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Craniofacial hyperos... |
ORPHA:1782 |
| Osteogenesis Imperfecta, Type Xi |
|
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Abnormality of the dent... |
OMIM:610968 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... |
ORPHA:8 |
| Geroderma Osteodysplastica |
|
Scoliosis, Platyspondyly, Osteoporosis, Abnormal bone ossification, Biconcave vertebral bodies, A... |
ORPHA:2078 |
| Thoracolaryngopelvic Dysplasia |
|
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Hypopl... |
OMIM:187760 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... |
OMIM:184253 |
| Arthrogryposis, Distal, Type 3 |
|
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased hip abduction, Congenital ... |
OMIM:114300 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Hypopla... |
OMIM:614524 |
| Brachydactyly Type A1 |
|
Scoliosis, Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... |
ORPHA:93388 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Wormian bones, Lambdoidal craniosynostosis, Kyphosis, Dentinogenesis imperfecta, N... |
OMIM:616294 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Juberg-Hayward Syndrome |
|
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... |
ORPHA:2319 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Scoliosis, Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped car... |
ORPHA:968 |
| Incontinentia Pigmenti |
|
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Absent hand, Camptodacty... |
ORPHA:464 |
| Multiple Synostoses Syndrome 1 |
|
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... |
OMIM:186500 |
| Alkaptonuria |
|
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... |
OMIM:203500 |
| Smith-Mccort Dysplasia 2 |
|
Platyspondyly, Genu valgum, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... |
OMIM:615222 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Epiphyseal stippling, Coronal cleft vertebrae, Calcific stippling of infantile cartilaginous skel... |
OMIM:215100 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Oligodontia, Hip subluxation, Genu valgum, Wide anterior fontanel, Squared iliac b... |
OMIM:618853 |
| Hall-Riggs Syndrome |
|
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturne... |
ORPHA:2107 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... |
OMIM:611717 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Metaphyseal dysplasia, Spinal stenosis with reduced interpedicular distance, Flattened moderately... |
OMIM:157151 |
| Limb Body Wall Complex |
|
Aplasia of the proximal phalanges of the hand, Spina bifida, Short umbilical cord, Abnormality of... |
ORPHA:2369 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, ... |
ORPHA:163966 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Joint hypermobility, Six lumbar vertebrae, Unilateral cleft lip, Supernumerary ribs, Unilateral c... |
OMIM:619122 |
| Doors Syndrome |
|
Narrow palate, Open mouth, Downturned corners of mouth, Sirenomelia, Hemivertebrae, Short distal ... |
ORPHA:79500 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Proximal femoral metaphyseal irregularity, Irregular iliac crest, Abnormality of t... |
ORPHA:168549 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Abnormal form of the ve... |
ORPHA:2916 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... |
OMIM:271700 |
| Dystonia, Juvenile-Onset |
|
Cleft palate, Hypoplastic scapulae, Cleft upper lip, Kyphoscoliosis |
OMIM:607371 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Scoliosis, Joint hyperflexibility, Kyphosis, Umbilical hernia, Shoulder dislocation, High, narrow... |
ORPHA:2181 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... |
OMIM:607778 |
| Kbg Syndrome |
|
Scoliosis, Long philtrum, Oligodontia, Finger clinodactyly, Thoracic kyphosis, Persistent open an... |
ORPHA:2332 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... |
ORPHA:399805 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Lowry-Wood Syndrome |
|
Platyspondyly, Dislocated radial head, Abnormality of epiphysis morphology, Elbow dislocation, Ir... |
ORPHA:1824 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Wide-cupped costochondra... |
OMIM:187600 |
| 46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... |
OMIM:616425 |
| Non-Functioning Pituitary Adenoma |
|
Panhypopituitarism, Abnormality of the pituitary gland, Male hypogonadism, Increased circulating ... |
ORPHA:91349 |
| Shox-Related Short Stature |
|
Scoliosis, Genu valgum, Cubitus valgus, Ulnar radial head dislocation, Madelung deformity, Tibial... |
ORPHA:314795 |
| Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Slender long bone, Reduced bone mineral density, Joint stiffness |
ORPHA:262 |
| Functioning Gonadotropic Adenoma |
|
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... |
ORPHA:91348 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Scoliosis, Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short... |
ORPHA:93307 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Long philtrum, Toe syndactyly, Cone-shaped epiphyses of the distal phalanges of th... |
OMIM:618958 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... |
OMIM:259420 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Tarsal synostosis, Abnormal form of the vertebral bodies, Finger... |
ORPHA:3429 |
| Leopard Syndrome 1 |
|
Cubitus valgus, Limited elbow movement, Spina bifida occulta, Cleft palate, Kyphoscoliosis, Short... |
OMIM:151100 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Scoliosis, Genu valgum, Dislocated radial head, Short femur, Irregular epiphyses, Flexion contrac... |
OMIM:601560 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Scoliosis, Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex conge... |
OMIM:178110 |
| Craniometadiaphyseal Dysplasia |
|
Scoliosis, Genu valgum, Carious teeth, Wormian bones, Cubitus valgus, Wide anterior fontanel, Bro... |
OMIM:269300 |
| Focal Dermal Hypoplasia |
|
Scoliosis, Enamel hypoplasia, Oligodontia, Short metatarsal, Congenital hip dislocation, Short ph... |
OMIM:305600 |
| Achondrogenesis, Type Ii |
|
Broad long bones, Hypoplastic iliac wing, Horizontal ribs, Absent vertebral body mineralization, ... |
OMIM:200610 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... |
OMIM:300106 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Tongue nodules, Kyphosis, Short sternum, Bifid tongue, Supernumerary ... |
OMIM:258850 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Absent phalangeal crease, Camptodactyly, Joint contracture of the hand, Spina bifida occulta, Sho... |
OMIM:611929 |
| Mucopolysaccharidosis, Type Vii |
|
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Genu valgum, Widely spaced teeth, Flexion contr... |
OMIM:253220 |
| Osteogenesis Imperfecta, Type Iv |
|
Scoliosis, Wormian bones, Kyphosis, Recurrent fractures, Reduced bone mineral density, Increased ... |
OMIM:166220 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Abnormal hip bone morphology, Joint stiffness, Cleft palate, Abnormality of lower... |
ORPHA:1166 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Pursed lips, Platyspondyly, Shoulder flexion contracture, Osteoporosis, Narrow mouth, Coronal cle... |
OMIM:255800 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Recurrent f... |
ORPHA:93160 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Female external ... |
ORPHA:90790 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Scoliosis, Abnormality of limb bone morphology, Cervical C2/C3 vertebral fusion, Cleft palate, Ab... |
OMIM:118100 |
| Coffin-Siris Syndrome 1 |
|
Scoliosis, Joint laxity, Intestinal malrotation, Sandal gap, Aplasia/Hypoplasia of the distal pha... |
OMIM:135900 |
| Arthrogryposis, Distal, Type 5D |
|
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Camptodactyly, Adducted thumb, Furr... |
OMIM:615065 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis |
OMIM:616030 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Wormian bones, Wide anterior fontanel, Shortening of all phalanges of fingers, Sho... |
OMIM:601356 |
| Leri-Weill Dyschondrosteosis |
|
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... |
OMIM:127300 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Wormian bones, Short femur, Beaded ribs, Flexion contracture, Adducted thumb, Decr... |
OMIM:616897 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Craniosynostosis, Decreased calvarial ossification, Metaphyseal cupping, Abnormali... |
OMIM:241500 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Spina... |
OMIM:271640 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Scoliosis, Hyperlordosis, Camptodactyly of finger, Narrow palate, Narrow mouth, Synostosis of car... |
ORPHA:1323 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate, Vertebral segm... |
ORPHA:1104 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Cleft palate, Tracheoesophageal... |
ORPHA:261272 |
| Spondylo-Ocular Syndrome |
|
Osteoporosis, Platyspondyly, Thin vermilion border, Long philtrum, Thoracic kyphosis, Joint hyper... |
ORPHA:85194 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... |
OMIM:271520 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis |
ORPHA:88643 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Short hallux, Platyspondyly, Long philtrum, Osteoporosis, Broad ribs, Finger syndactyly, Ovoid ve... |
ORPHA:1517 |
| Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... |
OMIM:312150 |
| Kniest-Like Dysplasia, Lethal |
|
Platyspondyly, Wide anterior fontanel, Coronal cleft vertebrae, Narrow mouth, Metaphyseal irregul... |
OMIM:245190 |
| Becker Nevus Syndrome |
|
Scoliosis, Cervical ribs, Hemivertebrae |
OMIM:604919 |
| Atelosteogenesis Type I |
|
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Osteogenesis Imperfecta, Type X |
|
Scoliosis, Platyspondyly, Genu valgum, Broad ribs, Joint laxity, Generalized joint laxity, Bowing... |
OMIM:613848 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Broad thumb, Joint laxity, Short finger, Irregular epiphyses, Lumbar hyperlordosis... |
OMIM:612813 |
| Larsen Syndrome |
|
Scoliosis, Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Accessory carpal bones,... |
ORPHA:503 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Platyspondyly, Hip dysplasia, Joint hyperflexibility, Kyphosis, Joint ... |
ORPHA:2655 |
| Osteogenesis Imperfecta, Type Xiv |
|
Scoliosis, Recurrent fractures, Increased susceptibility to fractures, Osteopenia, Femoral bowing |
OMIM:615066 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of... |
ORPHA:3320 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Narrow mouth, Abnormality of the vertebral column, Abnormal vertebral morphology, 2-3 toe syndact... |
OMIM:239800 |
| Cleidocranial Dysplasia |
|
Scoliosis, Enamel hypoplasia, Wormian bones, Narrow palate, Persistent open anterior fontanelle, ... |
OMIM:119600 |
| Holzgreve Syndrome |
|
Hand polydactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the metacarpal bones, Abnormal... |
ORPHA:2167 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... |
OMIM:271665 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the radius, Supernumerary vertebrae, Congenital hip dislocation, Radioulnar synosto... |
OMIM:263750 |
| Cole-Carpenter Syndrome 1 |
|
Scoliosis, Orbital craniosynostosis, Communicating hydrocephalus, Hydrocephalus, Recurrent fractu... |
OMIM:112240 |
| Opsismodysplasia |
|
Scoliosis, Long philtrum, Anterior rib cupping, Squared iliac bones, Metaphyseal cupping, Hypopla... |
OMIM:258480 |
| Otopalatodigital Syndrome, Type I |
|
Scoliosis, Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, ... |
OMIM:311300 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Squared iliac bones, Wormian bones, Deep philtrum, Dysplastic sacrum, Metaphyseal cupping, Severe... |
OMIM:613320 |
| Oculofaciocardiodental Syndrome |
|
Scoliosis, Oligodontia, Intestinal malrotation, Flexion contracture of the 2nd toe, Solitary medi... |
ORPHA:2712 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Scoliosis |
OMIM:614434 |
| Cole-Carpenter Syndrome |
|
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Wormian bones, Abnormal ... |
ORPHA:2050 |
| Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
| Mohr Syndrome |
|
Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,... |
OMIM:252100 |
| Otopalatodigital Syndrome, Type Ii |
|
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... |
OMIM:304120 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cervical ribs, Abnormality of the odontoid process, Cleft upper lip, Cleft palate, High palate, S... |
OMIM:609654 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Platyspondyly, Radial bowing, Short femur, Bowed humerus, Dumbbell-shaped h... |
OMIM:211350 |
| Patterson Pseudoleprechaunism Syndrome |
|
Irregular acetabular roof, Small cervical vertebral bodies, Genu valgum, Cervical platyspondyly, ... |
OMIM:169170 |
| Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Spina bifida, Camptodactyly of finger, Abnormal form of the vertebral bod... |
ORPHA:2839 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Scoliosis, Platyspondyly, Hyperlordosis, Decreased hip abduction, Bowing of the long bones, Metap... |
ORPHA:85167 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Platyspondyly, Dislocated radial head, Delayed ossification of carpal bones, Metaphyseal dysplasi... |
OMIM:617425 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... |
ORPHA:399808 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Narrow mouth, Wide anterior fontanel, Abnormal form of the vertebral bod... |
ORPHA:2021 |
| Orofaciodigital Syndrome Type 5 |
|
Scoliosis, Enamel hypoplasia, Accessory oral frenulum, Postaxial polysyndactyly of foot, Postaxia... |
ORPHA:2919 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Joint hypermobility, Short philtrum, Narrow mouth, Short foot, Clinodactyly, Small han... |
ORPHA:96184 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... |
ORPHA:957 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal femoral torsion, Macroglossia, Abnormal thumb morphology, Camptodactyly, Thick vermilion... |
ORPHA:500095 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Scoliosis, Amelogenesis imperfecta, Broad ribs, Biconcave vertebral bodies, Short ribs, Short hum... |
OMIM:610319 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Short phalanx of finger, Intestinal malrotation, Sandal gap, Abnormal pelvi... |
OMIM:215140 |
| Attrv30M Amyloidosis |
|
Constipation, Diarrhea, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Trisomy 20P |
|
Scoliosis, Thin vermilion border, Downturned corners of mouth, Short neck, Preaxial hand polydact... |
ORPHA:261318 |
| Rubinstein-Taybi Syndrome 1 |
|
Scoliosis, Enamel hypoplasia, Joint hypermobility, Narrow palate, Narrow mouth, Broad thumb, Dent... |
OMIM:180849 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Short finger, Flexion contracture, Vertebral fusion, Abnormal cervical curvatu... |
OMIM:253290 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short metatarsal, Wide anterior fontanel, Short distal phalanx of finger, Flared m... |
OMIM:618150 |
| Trisomy 8Q |
|
Camptodactyly of finger, Myelomeningocele, Everted lower lip vermilion, Bone cyst, Non-midline cl... |
ORPHA:1752 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Platyspondyly, Genu valgum, Limited elbow extension, Metaphyseal irregularity, Biconcave vertebra... |
OMIM:271510 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow il... |
OMIM:250420 |
| Noonan Syndrome With Multiple Lentigines |
|
Scoliosis, Spina bifida occulta |
ORPHA:500 |
| Atelosteogenesis, Type I |
|
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Corona... |
OMIM:108720 |
| Mccune-Albright Syndrome |
|
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... |
ORPHA:562 |
| Cousin Syndrome |
|
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Anterior... |
OMIM:260660 |
| Larsen-Like Syndrome |
|
Wide anterior fontanel, Joint laxity, Radial deviation of the 4th finger, Joint dislocation, Clef... |
OMIM:608545 |
| Crane-Heise Syndrome |
|
Toe syndactyly, Finger syndactyly, Hypoplastic scapulae, Short distal phalanx of finger, Abnormal... |
ORPHA:1512 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Holoprosencephaly, Kyphosis, Joint hyperflexibility, Limitation of joint mobility,... |
ORPHA:93274 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Osteoporosis, Short philtrum, Dental crowding, Recurrent fractures, Long fingers, Long hallux, Cl... |
OMIM:309583 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Scoliosis, Platyspondyly, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:619269 |
| Williams Syndrome |
|
Scoliosis, Open bite, Carious teeth, Abnormal dental enamel morphology, Joint laxity, Increased b... |
ORPHA:904 |
| Myhre Syndrome |
|
Platyspondyly, Thin vermilion border, Large iliac wing, Abnormality of the ribs, Narrow mouth, Ab... |
ORPHA:2588 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Short femur, Wide anterior fontanel, Split hand, Kyphosis, Short greater sciatic n... |
ORPHA:1860 |
| Aneurysm-Osteoarthritis Syndrome |
|
Scoliosis, Camptodactyly of finger, Intervertebral disc degeneration, Protrusio acetabuli, Osteop... |
ORPHA:284984 |
| Schimke Immunoosseous Dysplasia |
|
Platyspondyly, Thoracic kyphosis, Ovoid vertebral bodies, Lateral displacement of the femoral hea... |
OMIM:242900 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Scoliosis, Enamel hypoplasia, Oligodontia, Joint hypermobility, Dental crowding, Pierre-Robin seq... |
OMIM:619184 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Platyspondyly, Kyphosis, Osteopetrosis, Metaphyseal widening, Hydrocephalus |
OMIM:618476 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Scoliosis, Hamartoma of tongue, Intestinal malrotation, Horizontal ribs, Postaxial polydactyly, S... |
OMIM:613091 |
| Marshall Syndrome |
|
Radial bowing, Platyspondyly, Long philtrum, Pierre-Robin sequence, Wide tufts of distal phalange... |
OMIM:154780 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Narrow mouth, Sanda... |
OMIM:245600 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Scoliosis, Platyspondyly, Long philtrum, Downturned corners of mouth, Pathologic fracture, Osteop... |
OMIM:612394 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Narrow mout... |
OMIM:265000 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Goiter, Constipation, Macroorchidism, Pituitary hypothyroidism, Increased circulating prolactin c... |
ORPHA:90674 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... |
OMIM:618652 |
| 3Q29 Microdeletion Syndrome |
|
Short philtrum, Dental crowding, Joint hyperflexibility, Everted lower lip vermilion, Six lumbar ... |
ORPHA:65286 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Scoliosis, Toe syndactyly, Finger syndactyly, Split hand, Non-midline cleft lip, Lip pit, Thin up... |
ORPHA:1300 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Joint hypermobility, Carious teeth, Craniosynostosis, Multiple joint dislocation, Phal... |
ORPHA:536467 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Iliac crest serration, Flat... |
OMIM:250220 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Ab... |
ORPHA:90652 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Vomiting, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Intestinal malrotati... |
ORPHA:1505 |
| Aromatase Deficiency |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Ambiguous genitalia... |
ORPHA:91 |
| Occipital Horn Syndrome |
|
Scoliosis, Large iliac wing, Abnormality of fibula morphology, High, narrow palate, Aplastic clav... |
ORPHA:198 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Supernumerary vertebrae, Supernumerary ribs, Smooth philtrum, Oral cleft, Myelomeni... |
OMIM:193500 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Hepatomegaly, Testicular atrophy, Cardiomegaly, Splenomegaly, Hypogonadotropic hypog... |
OMIM:235200 |
| Occipital Horn Syndrome |
|
Osteoporosis, Platyspondyly, Long philtrum, Hiatus hernia, Genu valgum, Broad ribs, Joint laxity,... |
OMIM:304150 |
| Schneckenbecken Dysplasia |
|
Advanced tarsal ossification, Abnormal form of the vertebral bodies, Hypoplastic scapulae, Hypopl... |
ORPHA:3144 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Scoliosis, Increased vertebral height, Camptodactyly of toe, Broad femoral metaphyses, Joint cont... |
OMIM:610474 |
| Basal Cell Nevus Syndrome |
|
Scoliosis, Short 4th metacarpal, Spina bifida, Irregular ossification of hand bones, Odontogenic ... |
OMIM:109400 |
| Campomelic Dysplasia |
|
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide anterior fontanel, Hypop... |
OMIM:114290 |
| Cdags Syndrome |
|
Rectourethral fistula, Lambdoidal craniosynostosis, Kyphosis, Sagittal craniosynostosis, Short ri... |
OMIM:603116 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... |
ORPHA:56304 |
| Testicular Agenesis |
|
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... |
ORPHA:325124 |
| Campomelic Dysplasia |
|
Scoliosis, Poorly ossified cervical vertebrae, Hypoplastic inferior ilia, Kyphosis, Bowing of the... |
ORPHA:140 |
| Peters Plus Syndrome |
|
Long philtrum, Short toe, Toe syndactyly, Widely spaced teeth, Intestinal fistula, Sacral dimple,... |
ORPHA:709 |
| Osteoglophonic Dysplasia |
|
Platyspondyly, Long philtrum, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad ... |
OMIM:166250 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Anisospondyly, Narrow mouth, Broad long bones, Hypoplastic ilia, Flexion con... |
ORPHA:1865 |
| Cerebrofaciothoracic Dysplasia |
|
Scoliosis, Wide mouth, Rib fusion, Hemivertebrae, Cleft upper lip, Cleft palate, Broad philtrum, ... |
ORPHA:1394 |
| Schwartz-Jampel Syndrome |
|
Scoliosis, Pursed lips, Wormian bones, Arthrogryposis multiplex congenita, Narrow mouth, Elbow di... |
ORPHA:800 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Camptodactyly, Broad long bones, Bowing of the long bones, Adducted thumb, Short ribs, Short long... |
OMIM:224400 |
| Infantile Liver Failure Syndrome 3 |
|
Platyspondyly, Beaking of vertebral bodies, Abnormality of the epiphysis of the femoral head, Hyp... |
OMIM:618641 |
| Nail-Patella Syndrome |
|
Scoliosis, Limited elbow extension, Spina bifida, Antecubital pterygium, Hypoplastic radial head,... |
OMIM:161200 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Scoliosis, Abnormal dental enamel morphology, Abnormality of the metacarpal bones, Increased bone... |
ORPHA:2658 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Platyspondyly, Posterior scalloping of vertebral bodies, Thick lower lip vermilion, Metaphyseal i... |
OMIM:610442 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Hypoplastic sacrum, Spinal dysraphism, Absence of the sacrum, Cleft palate, Bifid uvula, Butterfl... |
OMIM:617660 |
| Osteogenesis Imperfecta, Type I |
|
Joint hypermobility, Wormian bones, Recurrent fractures, Osteopenia, Increased susceptibility to ... |
OMIM:166200 |
| Craniosynostosis-Fibular Aplasia Syndrome |
|
Open bite, Wormian bones, Fibular aplasia, Abnormal palate morphology, Sacral dimple, Tooth agene... |
ORPHA:1533 |
| Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Vomiting, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Genitopalatocardiac Syndrome |
|
Scoliosis, Postaxial hand polydactyly, Downturned corners of mouth, Kyphosis, Non-midline cleft l... |
ORPHA:2075 |
| Orofaciodigital Syndrome Type 3 |
|
Postaxial hand polydactyly, Thoracic kyphosis, Short sternum, Hamartoma of tongue, Abnormality of... |
ORPHA:2752 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal ilium morphology, Craniosynostosis, Narrow mouth, Open mouth, Short phalanx of finger, A... |
ORPHA:508533 |
| Blomstrand Lethal Chondrodysplasia |
|
Platyspondyly, Long philtrum, Abnormality of epiphysis morphology, Synostosis of joints, Natal to... |
ORPHA:50945 |
| Sponastrime Dysplasia |
|
Scoliosis, Hip subluxation, Joint laxity, Metaphyseal irregularity, Flattened humeral epiphyses, ... |
ORPHA:93357 |
| 8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Joint laxity, Branchial cyst, Long toe, Spina bifida occulta, Short n... |
ORPHA:508488 |
| Scarf Syndrome |
|
Enamel hypoplasia, Long philtrum, Craniosynostosis, Abnormal form of the vertebral bodies, Joint ... |
ORPHA:3134 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Scoliosis, Platyspondyly, Metaphyseal sclerosis, Short iliac bones, Joint swelling, Metaphyseal i... |
OMIM:607944 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... |
OMIM:147891 |
| Tibial Hemimelia |
|
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Hemivertebrae, Metatarsus adductus,... |
ORPHA:93322 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Wide anterior fontanel, Kyphosis, Lumbar hyperlordosis, Hydrocephalus |
OMIM:616482 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Scoliosis, Joint hypermobility, Narrow mouth, Slender long bones with narrow diaphyses, Abnormali... |
ORPHA:536471 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Spondylocarpotarsal Synostosis Syndrome |
|
