| 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 |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... |
OMIM:102510 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
| Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
| Acrofacial Dysostosis, Palagonia Type |
|
Cleft upper lip, Oligodontia, Scoliosis, Spina bifida occulta at S1, Unilateral cleft lip, Short ... |
OMIM:601829 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Sprengel Deformity |
|
Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, Rib segmentation ab... |
OMIM:184400 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Cleft palate, Short neck, Scoliosis, Posterior rib fusion, Spina b... |
ORPHA:1797 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Hemivertebrae, Spina bifida occulta,... |
OMIM:613686 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Gluteal Muscles, Absence Of |
|
Scoliosis, Spina bifida occulta |
OMIM:231970 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... |
ORPHA:64754 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Slender long bone, Spina bifida occulta, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... |
ORPHA:2840 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... |
OMIM:182940 |
| Nemaline Myopathy 9 |
|
High palate, Scoliosis, Arthrogryposis multiplex congenita, Cleft palate |
OMIM:615731 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Scoliosis |
ORPHA:3180 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... |
OMIM:183802 |
| Rhizomelic Chondrodysplasia Punctata |
|
Abnormality of the dentition, Scoliosis, Spina bifida occulta, Abnormal epiphysis morphology, Abn... |
ORPHA:177 |
| Tibial Torsion, Bilateral Medial |
|
Scoliosis |
OMIM:188800 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal ilium morphol... |
ORPHA:163665 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, St... |
OMIM:616583 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... |
OMIM:609223 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, Deep philtrum, Abn... |
ORPHA:2475 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Neuronal Intranuclear Inclusion Disease |
|
Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta |
ORPHA:2289 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... |
OMIM:617719 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Cleft palate, Camptodactyly of finger, Short... |
ORPHA:2311 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Acrofacial Dysostosis, Catania Type |
|
Short palm, Spina bifida occulta, Carious teeth |
OMIM:101805 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Reduced bone mineral density, Thin vermilion border, Short philtrum, Short neck, Spina ... |
ORPHA:2983 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Hyperconvex verte... |
OMIM:184255 |
| Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
| Pelvis-Shoulder Dysplasia |
|
Short clavicles, Lumbar hyperlordosis, Back pain, Clinodactyly of the 5th finger, Hypoplastic ili... |
OMIM:169550 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Wide mouth, Gingival overgrowth, Metaphyseal dysplasia,... |
ORPHA:3219 |
| Three M Syndrome 1 |
|
Increased vertebral height, Clinodactyly of the 5th finger, Joint dislocation, Short ribs, Short ... |
OMIM:273750 |
| Hypertrichosis, Congenital Generalized |
|
Scoliosis |
OMIM:307150 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Scoliosis, Spina bifida occulta, Bicoronal synostosis, Delayed closure of the anterior fontanelle... |
OMIM:618736 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga |
OMIM:271620 |
| Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis |
OMIM:600000 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... |
OMIM:609324 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... |
OMIM:618728 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... |
OMIM:604864 |
| Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Small hand, Oligodontia, Short neck, Scoliosis, Abnorma... |
ORPHA:1787 |
| Isotretinoin Syndrome |
|
Cleft palate, Sacral dimple, Spina bifida occulta |
ORPHA:2305 |
| Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Scoliosis, Abnormality of tibia morphology, Spina bifida occulta, Supernume... |
ORPHA:64755 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Osteopetrosi... |
ORPHA:2780 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Decreased hip abduction, Back pain, Osteoarthritis of the small joints of the ha... |
ORPHA:93311 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... |
ORPHA:2619 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen... |
ORPHA:2501 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis morphology |
ORPHA:93304 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Everted lower lip verm... |
OMIM:617877 |
| Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Platyspond... |
OMIM:156510 |
| Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
| Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Macroorchidism, Oligospermia |
ORPHA:3000 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Reduced bone mineral density, Spina bifida occulta, Slender long bone, Downturne... |
ORPHA:1185 |
| Sillence Syndrome |
|
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... |
ORPHA:3168 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Cleft palate, Sacral meningocele, Limb duplication, Hand polydactyly, Hip disloc... |
OMIM:223200 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hip contractur... |
ORPHA:99642 |
| Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
| Craniosynostosis 6 |
|
Delayed cranial suture closure, Scoliosis, Spina bifida occulta, Craniosynostosis |
OMIM:616602 |
| Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Scoliosis, Li... |
ORPHA:376 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Genu varum |
OMIM:608361 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... |
ORPHA:2114 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
| Arthrogryposis, Distal, Type 2A |
|
High palate, Flexion contracture of finger, Pursed lips, Short neck, Rocker bottom foot, Joint di... |
OMIM:193700 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ... |
OMIM:601668 |
| Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Cleft palate, Craniosynostosis, Flared iliac wing, Short 1st meta... |
ORPHA:949 |
| Diastrophic Dysplasia |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Cleft palate, Short long bone, Costal cart... |
OMIM:222600 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog... |
ORPHA:93359 |
| Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... |
OMIM:265900 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Cleft palate, Platyspondyly, Enlarged epiphyses, Premature osteoarthritis, ... |
OMIM:184840 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... |
ORPHA:53697 |
| Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Genu valgum, Sag... |
OMIM:201000 |
| Sprengel Deformity |
|
Short neck, Abnormal shoulder morphology, Cleft palate |
ORPHA:3181 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Thin upper lip vermilion, Short neck, Cleft palate |
ORPHA:2015 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... |
ORPHA:93316 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Short palm, Flared, irregular rib ends, Limitation of joint mobility |
ORPHA:168555 |
| Brachyolmia Type 1, Toledo Type |
|
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... |
OMIM:271630 |
| Metatropic Dysplasia |
|
Kyphosis, Hydrocephalus, Joint stiffness, Coarse metaphyseal trabecularization, Halberd-shaped pe... |
ORPHA:2635 |
| Czeizel-Losonci Syndrome |
|
High palate, Myelomeningocele, Hydrocephalus, Ectrodactyly, Split foot, Tracheoesophageal fistula... |
ORPHA:2437 |
| Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Abnormality of the vertebral endplates, Platyspondyly, Irre... |
ORPHA:1856 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Cleft palate, Narrow greater sciatic notch, Club-shaped prox... |
OMIM:184250 |
| Aase-Smith Syndrome |
|
Joint stiffness, Multiple joint contractures, Slender finger, Cleft palate, Abnormal hip bone mor... |
ORPHA:916 |
| Megalencephaly |
|
Atrial septal defect, Macroorchidism, Long penis |
ORPHA:2477 |
| Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronati... |
OMIM:610967 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Tethered cord, Spina bifida occulta |
OMIM:615281 |
| Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Platyspondyly |
OMIM:184095 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Platy... |
OMIM:259440 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Metacarpophalangeal j... |
OMIM:619110 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Cleft palate, Flared me... |
OMIM:601561 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... |
ORPHA:93284 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
| Progressive Pseudorheumatoid Dysplasia |
|
Joint swelling, Kyphoscoliosis, Joint stiffness, Coxa vara, Joint contracture of the hand, Enlarg... |
OMIM:208230 |
| 3Mc Syndrome |
|
Limited pronation/supination of forearm, Craniosynostosis, Scoliosis, Spina bifida occulta, Hyper... |
ORPHA:293843 |
| Larsen Syndrome |
|
Cleft palate, Elbow dislocation, Cleft upper lip, Accessory carpal bones, Knee dislocation, Trach... |
OMIM:150250 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Abnormality of the vertebral c... |
ORPHA:294975 |
| Split Cord Malformation Type I |
|
Scoliosis |
ORPHA:1671 |
| Mucolipidosis Type Iii |
|
Joint stiffness, Large iliac wing, Cleft palate, Reduced bone mineral density, Abnormal hip bone ... |
ORPHA:577 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Thin vermilion border,... |
ORPHA:2631 |
| Catel-Manzke Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Cleft palate, Radial deviation of the 2nd finger... |
ORPHA:1388 |
| Bruck Syndrome 1 |
|
Kyphosis, Hip contracture, Coxa vara, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli... |
OMIM:259450 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Abnormal digit morphology, Cleft palate, Spina bifida occulta |
OMIM:268850 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... |
ORPHA:2370 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, C... |
ORPHA:1646 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Cleft pa... |
OMIM:256050 |
| Pseudodiastrophic Dysplasia |
|
Phalangeal dislocation, Platyspondyly, Scoliosis, Elbow dislocation |
ORPHA:85174 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, D... |
ORPHA:166011 |
| Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, U-Shaped upper lip vermilion, Metaphyseal dysplasia, Hyp... |
OMIM:234250 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Joint hyperflexibility, Spina bifida occulta, Joint hypermobility |
ORPHA:230839 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metacarpal heads, Osteoarthritis, Platyspondyly, Flattened metatarsal heads, Hip osteoa... |
OMIM:271600 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Narrow mouth, Thin vermilion border, Short philtrum, Scoliosis, Microd... |
OMIM:617360 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the fi... |
OMIM:313420 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, High palate, Abnormality of the tongue, Multiple pterygia, Rib fus... |
ORPHA:2990 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... |
OMIM:612847 |
| Acrofacial Dysostosis, Catania Type |
|
Tooth agenesis, Clinodactyly of the 5th finger, Finger syndactyly, Small hand, Abnormality of the... |
ORPHA:1786 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cuppin... |
OMIM:608940 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Absent or... |
ORPHA:66637 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... |
ORPHA:93314 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Knee dislocation, Scoliosis, Hammertoe, Hip dislocation, Hip dysplasia |
ORPHA:370943 |
| Frontometaphyseal Dysplasia |
|
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Limitation of knee mobility, Pr... |
ORPHA:1826 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Dislocated radial head, Metaphyseal irregularity, Knee dislocation... |
OMIM:618395 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Platyspondyly, Cone-shaped epiphysis, Delayed eruption... |
ORPHA:71267 |
| Osteopathia Striata With Cranial Sclerosis |
|
High palate, Hydrocephalus, Cleft palate, Broad ribs, Delayed closure of the anterior fontanelle,... |
OMIM:300373 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
| Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Lumbar hyperlordosis, Coxa vara, Narro... |
OMIM:602557 |
| Rhizomelic Syndrome, Urbach Type |
|
High palate, Kyphosis, Abnormality of the tongue, Wide anterior fontanel, Short distal phalanx of... |
ORPHA:3098 |
| Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Scoliosis, Abn... |
ORPHA:429 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Coxa vara, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, D... |
OMIM:184252 |
| Baller-Gerold Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagit... |
OMIM:218600 |
| Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
High palate, Joint stiffness, Narrow mouth, Tibial bowing, Pursed lips, Flexion contracture, Abse... |
OMIM:245160 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... |
ORPHA:93346 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... |
ORPHA:1426 |
| Epiphyseal Chondrodysplasia, Miura Type |
|
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Scoliosis, Finger clinodactyly, Br... |
OMIM:615923 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormal epiphysis morphology, Osteoarthritis, Platyspondyly |
ORPHA:93283 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Butterfly vertebrae, Tracheoesophageal fistula, Spina bifida occulta, Fused cer... |
OMIM:619227 |
| Spinal Dysplasia, Anhalt Type |
|
Spinal dysplasia, Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar ... |
OMIM:601344 |
| Distal Monosomy 10Q |
|
High palate, Anal atresia, 2-3 toe cutaneous syndactyly, Lumbar hyperlordosis, Clinodactyly of th... |
ORPHA:96148 |
| 3Mc Syndrome 1 |
|
Cleft upper lip, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Coronal cr... |
OMIM:257920 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
| Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
| Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypo... |
OMIM:230650 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Platyspondyly, Hypoplasia of the femoral head, Wide distal femoral me... |
OMIM:619598 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short palm, Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Synostosis of carpal bone... |
ORPHA:93351 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Rectal prolapse, Umbilical hernia, Scoliosis, Gingival overgrowth, Oli... |
OMIM:235510 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
| 17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abnormal vertebral seg... |
ORPHA:2345 |
| Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Thin vermilion border, Ar... |
OMIM:614856 |
| Alagille Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of finger, Clinodactyly of the 5th finger, Sh... |
ORPHA:52 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Slender finger, Cleft palate, Platyspondyly, Short neck, Anisospondyly, Ovoid verteb... |
ORPHA:163649 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Smith-Mccort Dysplasia 1 |
|
Kyphosis, Beaking of vertebral bodies, Hypoplastic acetabulae, Multicentric femoral head ossifica... |
OMIM:607326 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Cleft palate |
OMIM:221950 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Gastroesophageal reflux, Macroorchidism |
ORPHA:908 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Small hand, Platyspondyly, Short palm, Hypopl... |
ORPHA:85172 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... |
OMIM:313400 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... |
OMIM:615220 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
| Bruck Syndrome |
|
Kyphosis, Joint stiffness, Recurrent fractures, Platyspondyly, Scoliosis, Wormian bones, Osteopor... |
ORPHA:2771 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta |
OMIM:618060 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Cleft palate, Fused thoracic vertebrae, Flexion contracture, Short neck, Scoliosis, Fused cervica... |
OMIM:618469 |
| Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Encephalocele, Vert... |
ORPHA:2911 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f... |
OMIM:612350 |
| Autosomal Recessive Stickler Syndrome |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Cleft palate, Platyspondyly, Genu valgum, Ab... |
ORPHA:250984 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Short m... |
OMIM:215150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Cleft palate, Arachnodactyly, Thoracic kyphosis, Cleft lip, Long toe |
OMIM:300263 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clinodactyly of the 5th finger, Craniosynostosis, Spina bifida occulta, Anal stenosis, Rectovagin... |
OMIM:300707 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
High palate, Horizontal sacrum, Twelfth rib hypoplasia, Sacral dimple, Abnormality of dental erup... |
OMIM:211910 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... |
ORPHA:1427 |
| Spondylometaphyseal Dysplasia, Axial |
|
Coxa vara, Narrow greater sciatic notch, Platyspondyly, Scoliosis, Short femoral neck, Anterior r... |
OMIM:602271 |
| Kuskokwim Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the vertebral bod... |
ORPHA:1149 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Anal atresia, Scoliosis, Brachydactyly, Fused cervical vertebrae, Short middle phalanx of finger,... |
ORPHA:1436 |
| Weismann-Netter Syndrome |
|
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... |
OMIM:112350 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... |
OMIM:184260 |
| Mucopolysaccharidosis, Type Ivb |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Platyspondyly, Carious teeth, Genu... |
OMIM:253010 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Narrow greater sci... |
ORPHA:168549 |
| Dubowitz Syndrome |
|
High palate, Wide mouth, Hydrocephalus, Craniosynostosis, Abnormality of the dentition, Delayed e... |
ORPHA:235 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
| Mucopolysaccharidosis, Type Iva |
|
Wide mouth, Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebr... |
OMIM:253000 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cleft palate, Popliteal pterygium, Bifid uvula, Spina bifida occulta, Lower lip ... |
OMIM:119500 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal... |
ORPHA:90650 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... |
OMIM:184100 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Osteopenia, Fractures of t... |
ORPHA:319195 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, Osteoporosis, Carious ... |
OMIM:126550 |
| X-Linked Intellectual Disability, Abidi Type |
|
Scoliosis, Cleft palate, Non-midline cleft lip |
ORPHA:85273 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Low back pain, M... |
OMIM:122600 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec... |
ORPHA:157965 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Upper limb undergrowth, G... |
ORPHA:94068 |
| Duane-Radial Ray Syndrome |
|
Anal atresia, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Scolio... |
OMIM:607323 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... |
OMIM:251450 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Osteopenia, Scoliosis, Biconcave vertebral bodies, Vertebral wedging |
OMIM:301014 |
| Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Scol... |
ORPHA:1248 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Short neck, Scoliosis, Fused cerv... |
OMIM:214300 |
| Diastrophic Dysplasia |
|
Cleft palate, Symphalangism affecting the phalanges of the hand, Ulnar deviation of finger, Abnor... |
ORPHA:628 |
| Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... |
ORPHA:90653 |
| Townes-Brocks Syndrome 2 |
|
Anal atresia, Rectovaginal fistula, Scoliosis, Spina bifida occulta |
OMIM:617466 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... |
OMIM:264180 |
| Anauxetic Dysplasia 1 |
|
Platyspondyly, Short neck, Microdontia, Small epiphyses, Cervical subluxation, Cervical cord comp... |
OMIM:607095 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Coxa vara, Lumbar hyperlordosis, Cleft palate, Atlantoaxial instability, Delayed calcan... |
OMIM:183900 |
| Brachyolmia Type 3 |
|
Kyphosis, Short neck, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Spinal cord com... |
OMIM:113500 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... |
ORPHA:166016 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Decreased cranial base ossification, Disc-like vertebral bodies, ... |
OMIM:151210 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida occulta, Abnormal rib morpho... |
ORPHA:488434 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Wide mouth, Joint dislocation, Reduced bone mineral density, Abn... |
ORPHA:582 |
| Thanatophoric Dysplasia, Type Ii |
|
Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal irregularity, ... |
OMIM:187601 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
| Dysosteosclerosis |
|
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... |
OMIM:224300 |
| Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Knee dislocation, Cleft palate, Horizontal sacrum, Tombstone-shaped... |
OMIM:108721 |
| Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... |
ORPHA:3344 |
| Au-Kline Syndrome |
|
High palate, Overlapping toe, Cleft palate, Craniosynostosis, Postaxial polydactyly, Oligodontia,... |
OMIM:616580 |
| Keratoconus Posticus Circumscriptus |
|
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation an... |
OMIM:244600 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Platyspondyly, Brachydactyly, Short humerus, Short metatarsal,... |
OMIM:601438 |
| Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Oligodontia, Platyspondyly, Microdontia, Amelogenesis i... |
OMIM:601216 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Coxa vara, Flexion contracture, Flared iliac wing, Thin ribs, Metaphyseal widening, ... |
OMIM:300232 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism |
ORPHA:776 |
| Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Hypoplastic vertebral bodies, Abnormal cartilage matrix, Cleft palate, Sh... |
ORPHA:2347 |
| Kniest Dysplasia |
|
Enlarged joints, Cleft palate, Platyspondyly, Short neck, Hypoplastic pelvis, Umbilical hernia, D... |
OMIM:156550 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Macroorchidism |
ORPHA:85327 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Kyphoscoliosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, L... |
OMIM:615349 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Platyspondyly, Short neck, Downturned corners of mouth, Abnormal rib morphology, ... |
ORPHA:93267 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Broad thumb, S... |
OMIM:619638 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, Br... |
OMIM:618961 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Cone-shaped epiphysis, Platyspondyly, Scoliosis, Delayed eruption of t... |
ORPHA:166272 |
| Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Cleft palate, Platyspondyly, Short neck, Abnormal... |
ORPHA:485 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Cleft palate, Narrow vertebral i... |
OMIM:269250 |
| Duane Retraction Syndrome |
|
Cleft palate, Everted lower lip vermilion, Abnormal vertebral segmentation and fusion, Hypoplasia... |
ORPHA:233 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
High palate, Overlapping toe, Cleft palate, Scoliosis, Open mouth |
OMIM:620021 |
| Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... |
OMIM:203500 |
| Incontinentia Pigmenti |
|
Absent hand, Supernumerary ribs, Hypodontia, Finger syndactyly, Camptodactyly of finger, Scoliosi... |
ORPHA:464 |
| Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa vara, Bowing of the legs, Platyspondyly, Scoliosis, Wormian bones, Oste... |
OMIM:619131 |
| Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Cleft palate, Encephalocele, Split foot, Short umbilical cord, A... |
ORPHA:2369 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Spinal stenosis with reduced interpedicular distance, Metaphyseal dysplasia, Irregular epiphyses,... |
OMIM:157151 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Bilateral breast hypoplasia, Hypogonadotropic hypogonadism, Oligospermia, Gon... |
ORPHA:52901 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Platyspondyly, Short neck, Abnormality of the ankles, Hypoplasia of the capit... |
ORPHA:239 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Anal atresia, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx ... |
OMIM:309620 |
| Loeys-Dietz Syndrome 6 |
|
High palate, Intervertebral disc degeneration, Arachnodactyly, Scoliosis, Hip osteoarthritis, Kne... |
OMIM:619656 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
| Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Preaxial foot polydactyly, Coxa vara, Aplasia/Hypoplas... |
ORPHA:1988 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal cupping, Thin ribs, Platysp... |
OMIM:300863 |
| Czech Dysplasia |
|
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Short metaca... |
OMIM:609162 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... |
OMIM:250215 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Decreased calvarial ossification, Platyspondyly, Femoral bowing, Femoral retroversion... |
OMIM:610915 |
| Ollier Disease |
|
Joint stiffness, Platyspondyly, Abnormal cartilage morphology, Osteolysis, Abnormal metaphysis mo... |
ORPHA:296 |
| Zimmermann-Laband Syndrome 1 |
|
High palate, Wide mouth, Gingival overgrowth, Short distal phalanx of finger, Hyperextensibility ... |
OMIM:135500 |
| Arthrogryposis, Distal, Type 3 |
|
High palate, Overlapping toe, Kyphoscoliosis, Lumbar hyperlordosis, Decreased hip abduction, Clef... |
OMIM:114300 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased circula... |
ORPHA:8 |
| Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Scoliosis, Delayed eruption of teeth, Abnor... |
ORPHA:263463 |
| Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, High palate, Joint stiffness, Adducted thumb, Abnormal hip bone mo... |
ORPHA:1147 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Flexion contracture, Cleft palate, Flared metaphysis, Coronal cleft vertebrae, Ca... |
OMIM:215100 |
| Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Dentinogenesis imperfecta, Abnormality of the dentition, Osteopenia, S... |
OMIM:610968 |
| Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Open bite, Platyspondyly, Scoliosis, Long philtrum, Diastema, Hyperl... |
OMIM:619698 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, I... |
OMIM:226980 |
| Stickler Syndrome, Type I |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Spondylolisthesis, Cleft palate, Pierre-R... |
OMIM:108300 |
| Bruck Syndrome 2 |
|
Flexion contracture, Osteopenia, Femoral bowing, Platyspondyly, Wormian bones, Elbow flexion cont... |
OMIM:609220 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... |
OMIM:184253 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Six lumbar vertebrae, Unilateral cleft palate, Unilateral cleft lip, Joint hypermobility, Supernu... |
OMIM:619122 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Tooth agenesis, Multiple rib fractures, Osteopenia, Decreased calvarial ossi... |
OMIM:616229 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hypodontia, Cleft palate,... |
ORPHA:2916 |
| Desbuquois Dysplasia 2 |
|
Cleft palate, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Radial... |
OMIM:615777 |
| Doors Syndrome |
|
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Hemivertebrae, Abn... |
ORPHA:79500 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
High palate, Corner fracture of metaphysis, Abnormality of the dentition, Platyspondyly, Short ne... |
ORPHA:93315 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... |
ORPHA:457395 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Craniofacial hyperostosis, Hypoplastic verteb... |
ORPHA:1782 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... |
OMIM:304950 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Cantu Syndrome |
|
Thick upper lip vermilion, Gingival overgrowth, Broad first metatarsal, Metaphyseal widening, Pla... |
OMIM:239850 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Scoliosis, Osteoporosis, Thin metacarpal cortices, Vertebral compression fracture |
OMIM:616507 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Ge... |
OMIM:223800 |
| Fibrochondrogenesis 1 |
|
Cleft palate, Platyspondyly, Short neck, Dumbbell-shaped long bone, Posterior rib cupping, Short ... |
OMIM:228520 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Craniosynostosis, Osteopenia, Femoral bowing, Platyspondyly, Short neck, Short f... |
OMIM:616723 |
| Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Pursed lips, Platyspondyly, Short neck, Congenital hip dislocation, Umbilical hernia... |
OMIM:255800 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Platyspondyly, Bico... |
ORPHA:2078 |
| Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Osteoarthritis, Platyspondyly, Abnormal intervertebral disk morphology |
ORPHA:1345 |
| Van Esch-O'Driscoll Syndrome |
|
Wide mouth, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Scoliosis, Bifid uvula, Sp... |
OMIM:301030 |
| Kbg Syndrome |
|
Cleft palate, Oligodontia, Short neck, Scoliosis, Macrodontia, Long philtrum, Cutaneous syndactyl... |
ORPHA:2332 |
| Cole-Carpenter Syndrome 2 |
|
High palate, Kyphosis, Hydrocephalus, Dentinogenesis imperfecta, Thin ribs, Coronal craniosynosto... |
OMIM:616294 |
| Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Decreased response to... |
ORPHA:91349 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femoral bowing, Oligodo... |
OMIM:618853 |
| Leopard Syndrome 1 |
|
Kyphoscoliosis, Cleft palate, Short neck, Spina bifida occulta, Limited elbow movement, Cubitus v... |
OMIM:151100 |
| Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Cleft palate, Platyspondyly, Hypoplasia of t... |
ORPHA:85166 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Hiatus hernia, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth... |
OMIM:305600 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Upper limb undergrowth, Genu ... |
ORPHA:93307 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Joint contracture of the hand, Short neck, Spina bifida occulta, Camptodactyly, Absent phalangeal... |
OMIM:611929 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platyspondyly, Hypoplast... |
OMIM:614524 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Wide anterior fontanel, Recurrent fractures, Dentinogenesis imperfecta, Tibial bowing, ... |
OMIM:259420 |
| Smith-Mccort Dysplasia 2 |
|
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Short neck, Pl... |
OMIM:615222 |
| Hall-Riggs Syndrome |
|
Wide mouth, Joint stiffness, Platyspondyly, Scoliosis, Delayed eruption of teeth, Brachydactyly, ... |
ORPHA:2107 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Wide mouth, Platyspondyly, Short neck, Small epiphyses, Short long bone, Thick lower lip vermilio... |
OMIM:611717 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Flexion contracture, Cleft pal... |
OMIM:601560 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cleft palate, Abnormal form of the vertebral bodies, Non-midline... |
ORPHA:3429 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Pycnodysostosis |
|
Narrow palate, Spondylolisthesis, Persistence of primary teeth, Hypodontia, Increased bone minera... |
OMIM:265800 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Joint stiffness, Tooth agenesis, Cleft palate, Abnormality of lowe... |
ORPHA:1166 |
| Achondrogenesis, Type Ii |
|
Cleft palate, Short ribs, Short tubular bones of the hand, Absent vertebral body mineralization, ... |
OMIM:200610 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... |
OMIM:178110 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Hydrocephalus, Thin ribs, Short philtrum, Platyspondyly, Metaphyseal cupping of metac... |
ORPHA:163966 |
| Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Prominent fingertip pads, Broad hallux, Duplication of phalanx of hall... |
OMIM:180849 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral segmentation and fusion, Short ... |
OMIM:118100 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
| Craniometadiaphyseal Dysplasia |
|
High palate, Wide anterior fontanel, Sclerosis of skull base, Osteopenia, Flared metaphysis, Scol... |
OMIM:269300 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microdontia, Postaxial h... |
OMIM:258850 |
| Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... |
OMIM:271700 |
| Coffin-Siris Syndrome 1 |
|
High palate, Wide mouth, Short sternum, Cleft palate, Prominent fingertip pads, Short philtrum, D... |
OMIM:135900 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
| Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Periodontitis, Recurr... |
OMIM:231070 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Beaded ribs, Thin ribs, Platyspondyly, Wormian bones, Absent ... |
OMIM:166210 |
| Larsen Syndrome |
|
Vertebral segmentation defect, Large joint dislocations, Laryngotracheomalacia, Short distal phal... |
ORPHA:503 |
| Arthrogryposis, Distal, Type 5D |
|
Cleft palate, Adducted thumb, Short neck, Scoliosis, Hyperlordosis, Camptodactyly, Furrowed tongu... |
OMIM:615065 |
| Lowry-Wood Syndrome |
|
Joint stiffness, Dislocated radial head, Epiphyseal dysplasia, Coxa vara, Platyspondyly, Irregula... |
ORPHA:1824 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Short ribs, Intestinal malrotation, Postaxial p... |
OMIM:617866 |
| 17Q12 Microduplication Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Abnormal vertebral morphology, Finger syndactyly, Toe sy... |
ORPHA:261272 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Anal atresia, Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short ne... |
OMIM:271520 |
| Anophthalmia Plus Syndrome |
|
Vertebral segmentation defect, Cleft palate, Deviation of finger, Bilateral cleft lip and palate,... |
ORPHA:1104 |
| Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Cone-shaped epiphyses of the distal phalanges of the hand, Platyspondyly, Short neck, Long philtr... |
OMIM:618958 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Multiple pterygia, Joint dislocation, Cleft palate, Flexion contracture, Thin ri... |
OMIM:312150 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... |
OMIM:300106 |
| Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Biconcave... |
OMIM:166220 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Scoliosis |
OMIM:604919 |
| Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism |
ORPHA:180229 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Cleft palate, Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short... |
OMIM:271640 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral col... |
OMIM:239800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Cl... |
ORPHA:3320 |
| Oculofaciocardiodental Syndrome |
|
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... |
ORPHA:2712 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Short long bone... |
OMIM:618019 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Cleft palate, Flexion contracture, Short ribs, Osteopenia, Short femu... |
OMIM:616897 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Short neck, Polydactyly, Postaxial hand polydactyly, Encephalocele |
OMIM:613885 |
| Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... |
OMIM:311300 |
| Cleidocranial Dysplasia 1 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Spondylolisthesis,... |
OMIM:119600 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Mitral valve prolapse, Macroorchidism |
OMIM:618874 |
| Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Cleft palate, Supernumerary vertebrae, Hypoplasia of the radius, Congenital hip ... |
OMIM:263750 |
| Holzgreve Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormally ossified vertebrae, A... |
ORPHA:2167 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wide anterior fontanel, Platyspondyly, Shortening of all metacarpals, Wormian bones, Shortening o... |
OMIM:601356 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Wide mouth, Broad hallux phalanx, Platyspondyly, Short neck, Long... |
ORPHA:1517 |
| Thanatophoric Dysplasia, Type I |
|
Wide-cupped costochondral junctions, Hydrocephalus, Metaphyseal irregularity, Small abnormally fo... |
OMIM:187600 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Cleft palate, Short neck, Cervical ribs, Abnormality of the odontoi... |
OMIM:609654 |
| Gm1-Gangliosidosis, Type Ii |
|
Beaking of vertebral bodies, Gingival overgrowth, Hypoplastic vertebral bodies, Narrow mouth, Joi... |
OMIM:230600 |
| Kniest-Like Dysplasia, Lethal |
|
Metaphyseal irregularity, Narrow mouth, Hypoplastic vertebral bodies, Wide anterior fontanel, Cle... |
OMIM:245190 |
| Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Dislocated radial head, Hydrocephalus, Lumbar hyperlordosis, Fift... |
ORPHA:2839 |
| Hypophosphatasia, Infantile |
|
Bowing of the legs, Widely patent fontanelles and sutures, Metaphyseal cupping, Craniosynostosis,... |
OMIM:241500 |
| Mohr Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... |
OMIM:252100 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Long hallux, Tibial bowing, Macroglossia, Spina bifida occulta, Camptodactyly, Abnormal thumb mor... |
ORPHA:500095 |
| Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Hydrocephalus, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosi... |
OMIM:112240 |
| Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Joint dislocation, Cleft palate, Abnormal ossification involving the femora... |
ORPHA:1190 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... |
ORPHA:957 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scolio... |
OMIM:613848 |
| Fibrochondrogenesis |
|
Narrow mouth, Wide anterior fontanel, Cleft palate, Short ribs, Camptodactyly of finger, Short ne... |
ORPHA:2021 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... |
OMIM:305620 |
| Spondylo-Ocular Syndrome |
|
Thin vermilion border, Platyspondyly, Short neck, Long philtrum, Osteoporosis, Thoracic kyphosis,... |
ORPHA:85194 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Short humerus, Sh... |
OMIM:610319 |
| Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, High, narrow palate, Hypodontia, Supernumerary tooth... |
ORPHA:2919 |
| Noonan Syndrome With Multiple Lentigines |
|
Scoliosis, Spina bifida occulta |
ORPHA:500 |
| Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Genu valgum, Umbi... |
OMIM:253220 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Cleft palate, Flexion contracture, Thin ribs, Abnormal cerv... |
OMIM:253290 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Metaphyseal widening, Platyspondyly, Short neck, Irregular epiphyses, Brach... |
OMIM:612813 |
| Trisomy 8Q |
|
High palate, Myelomeningocele, Joint stiffness, Bone cyst, Cleft palate, Everted lower lip vermil... |
ORPHA:1752 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ventricular septal defect, Atrial septal defect, Macroorchidism |
OMIM:309520 |
| Acromesomelic Dysplasia 4 |
|
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Sandal gap, Umbilical hernia, Prominent ... |
OMIM:619636 |
| Cousin Syndrome |
|
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Clinodactyly of the 5th fing... |
OMIM:260660 |
| Dystonia, Juvenile-Onset |
|
Cleft upper lip, Hypoplastic scapulae, Kyphoscoliosis, Cleft palate |
OMIM:607371 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
High palate, Broad phalanx, Platyspondyly, C1-C2 subluxation, Hip subluxation, Posterior rib cupp... |
OMIM:271665 |
| Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Symphalangism affecting the phalanges... |
OMIM:186500 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Elevated circulating growth hormone concentration, Gastroesophageal reflux, O... |
ORPHA:562 |
| Kyphomelic Dysplasia |
|
Cleft upper lip, Tibial bowing, Radial bowing, Short metacarpal, Cleft palate, Short femur, Undul... |
OMIM:211350 |
| Crane-Heise Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Cleft palate, Abnormally ossified vertebrae, Apl... |
ORPHA:1512 |
| Thanatophoric Dysplasia |
|
Kyphosis, Hydrocephalus, Joint stiffness, Hip dysplasia, Platyspondyly, Brachydactyly, Abnormal i... |
ORPHA:2655 |
| Larsen-Like Syndrome |
|
Dental malocclusion, Kyphoscoliosis, Wide anterior fontanel, Joint dislocation, Clinodactyly of t... |
OMIM:608545 |
| Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Cleft palate, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip d... |
OMIM:304120 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Metaphyseal irregularity, Kyphoscoliosis, Lumbar hyperlordosis, Delayed os... |
OMIM:271510 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Partial duplication of ... |
OMIM:616331 |
| Williams Syndrome |
|
Wide mouth, Tracheoesophageal fistula, Osteopenia, Down-sloping shoulders, Abnormality of the ank... |
ORPHA:904 |
| Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Hydrocephalus, Holoprosencephaly, Platyspondyly, Joint hyperflexibility, Brachydactyly,... |
ORPHA:93274 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint stiffness, Hypodontia, Cleft palate, Short long bone, Oligodontia, Scolios... |
OMIM:619184 |
| Aneurysm-Osteoarthritis Syndrome |
|
High palate, Dental malocclusion, Spondylolisthesis, Cleft palate, Osteoarthritis of the small jo... |
ORPHA:284984 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Anal atresia, Kyphoscoliosis, Dislocated radial head, Delayed ossification of carpal bones, Epiph... |
OMIM:617425 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... |
OMIM:618652 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... |
OMIM:265000 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Hydrocephalus, Joint contracture of the hand, Cleft palate... |
OMIM:224400 |
| Trisomy 20P |
|
Abnormality of the dentition, Short philtrum, Platyspondyly, Short neck, Microdontia, Umbilical h... |
ORPHA:261318 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
| Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior... |
OMIM:618150 |
| Marshall Syndrome |
|
Macrodontia of permanent maxillary central incisor, Cleft palate, Platyspondyly, Irregular proxim... |
OMIM:154780 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Hypoplasia of the ulna, Short long bone, Cle... |
OMIM:613091 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Narrow mouth, Hydrocephalus, Cleft palate, Flexion contracture, Short long bo... |
ORPHA:1865 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Constipation, Increased circulating prolactin concen... |
ORPHA:90674 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Vomiting, Cardiomegaly |
OMIM:600649 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... |
OMIM:614701 |
| 3Q29 Microdeletion Syndrome |
|
High palate, Clinodactyly of the 5th finger, Everted lower lip vermilion, Abnormality of the dent... |
ORPHA:65286 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
| Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Cleft palate, Bowing of the long bones, Encephalocele, Elbow dislocation, Carpal s... |
ORPHA:90652 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Recurrent fractures, Small abnormally formed scapul... |
ORPHA:140 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Cleft palate, Lip pit, Fibrous syngnathia, Scoliosis, Popliteal pterygium, Abnor... |
ORPHA:1300 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti... |
OMIM:619269 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Short neck, Upper limb undergrowth, Dumbbell-shaped femur, Genu valg... |
ORPHA:56304 |
| Thanatophoric Dysplasia Type 1 |
|
Kyphosis, Hydrocephalus, Wide anterior fontanel, Joint stiffness, Short femur, Femoral bowing, Hy... |
ORPHA:1860 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Short clavicles, Cleft palate, Craniosynostosis, Cleft lip, Broad thumb, Occipi... |
ORPHA:60015 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Acetabular spurs,... |
ORPHA:1505 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Supernumerary vertebrae, Oral cleft, Supernumerary ribs, Spina bifida, Smooth p... |
OMIM:193500 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Myhre Syndrome |
|
Joint stiffness, Narrow mouth, Large iliac wing, Cleft palate, Thin vermilion border, Platyspondy... |
ORPHA:2588 |
| Peters Plus Syndrome |
|
Cleft upper lip, Wide mouth, Anal atresia, Hydrocephalus, Clinodactyly of the 5th finger, Short t... |
ORPHA:709 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
High palate, Increased vertebral height, Joint contracture of the hand, Arachnodactyly, Camptodac... |
OMIM:610474 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Osteopenia, Metacarpophalangeal joint hyperextensi... |
OMIM:245600 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, Cardi... |
OMIM:235200 |
| Aromatase Deficiency |
|
Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Crypto... |
ORPHA:91 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Clubbing, Multinuclea... |
OMIM:108720 |
| Basal Cell Nevus Syndrome |
|
Cleft upper lip, Bifid ribs, Kyphoscoliosis, Hydrocephalus, Short distal phalanx of the thumb, Su... |
OMIM:109400 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Hydrocephalus, Osteopetrosis, Metaphyseal widening, Platyspondyly |
OMIM:618476 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Hydrocephalus, Slender long bones with narrow diaphyses... |
ORPHA:536467 |
| Nail-Patella Syndrome |
|
Cleft upper lip, Hypoplasia of first ribs, Lumbar hyperlordosis, Back pain, Clinodactyly of the 5... |
OMIM:161200 |
| Orofaciodigital Syndrome Type 3 |
|
Short sternum, Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, ... |
ORPHA:2752 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Recurrent fractures, Kyphoscoliosis, Long hallux, High, narrow palate, Cleft palate, Hyperextensi... |
OMIM:309583 |
| Schneckenbecken Dysplasia |
|
Hypoplastic vertebral bodies, Cleft palate, Short ribs, Increased fibular diameter, Hypoplastic i... |
ORPHA:3144 |
| Cdags Syndrome |
|
Kyphosis, Anal atresia, Short clavicles, Cleft palate, Short ribs, Coronal craniosynostosis, Dela... |
OMIM:603116 |
| Knobloch Syndrome 1 |
|
Occipital meningocele, Spina bifida occulta, Pyloric stenosis, Joint hypermobility, Occipital enc... |
OMIM:267750 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Cerebrofaciothoracic Dysplasia |
|
Vertebral segmentation defect, Wide mouth, Cleft upper lip, Rib fusion, Bifid ribs, Cleft palate,... |
ORPHA:1394 |
| Craniolenticulosutural Dysplasia |
|
High palate, Wide mouth, Wide anterior fontanel, Cleft palate, Osteopenia, High iliac wing, Scoli... |
OMIM:607812 |
| Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Kyphosis, Posterior rib gap, Clinodactyly of the 5th finger, Cleft palate, Trac... |
ORPHA:1393 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, Hydrocephalus, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges o... |
ORPHA:2658 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Abnormality ... |
ORPHA:536471 |
| Frontorhiny |
|
Lumbar hyperlordosis, Basal encephalocele, Cleft palate, Camptodactyly of finger, Bifid tongue, S... |
ORPHA:391474 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Vomiting, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:212140 |
| Oculoauricular Syndrome |
|
Spina bifida occulta, Short mandibular rami |
OMIM:612109 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Cleft palate, Femoral bowing, Sho... |
OMIM:114290 |
| Tibial Hemimelia |
|
Cleft palate, Hemivertebrae, Radial club hand, Aplasia of the 2nd metacarpal, Absent hallux, Poly... |
ORPHA:93322 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Short neck, 11 pairs of ribs, ... |
OMIM:250220 |
| Opsismodysplasia |
|
Short palm, Hypoplastic vertebral bodies, Metaphyseal cupping, Short metacarpal, Short neck, Scol... |
OMIM:258480 |
| Scarf Syndrome |
|
Short sternum, Craniosynostosis, Short neck, Long philtrum, Abnormal form of the vertebral bodies... |
ORPHA:3134 |
| Occipital Horn Syndrome |
|
High palate, Kyphosis, Short clavicles, Hiatus hernia, Coxa valga, Platyspondyly, Long philtrum, ... |
OMIM:304150 |
| Orofaciodigital Syndrome V |
|
High palate, Hypodontia, Cleft palate, Postaxial polydactyly, Bifid tongue, Scoliosis, Bifid uvul... |
OMIM:174300 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Platyspondyly, 11 pairs of ribs, Tetraph... |
OMIM:215140 |
| Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Platyspondyly, Abnormality of the pubic bone, Humerus varus, Down-slop... |
ORPHA:198 |
| 8Q24.3 Microdeletion Syndrome |
|
Abnormal cricoid cartilage morphology, Short neck, Congenital hip dislocation, Finger clinodactyl... |
ORPHA:508488 |
| Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
| Genitopalatocardiac Syndrome |
|
Kyphosis, Hydrocephalus, Cleft palate, Scoliosis, Brachydactyly, Downturned corners of mouth, Pos... |
ORPHA:2075 |
| Congenital Toxoplasmosis |
|
Diarrhea, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Van Den Ende-Gupta Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypopl... |
OMIM:600920 |
| 3Mc Syndrome 2 |
|
Cleft upper lip, Cleft palate, Craniosynostosis, Abnormality of the vertebral column, Limited elb... |
OMIM:265050 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Abnormality of the dentition, Contracture of the proximal interphalangeal joint of the 3rd finger... |
OMIM:612394 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Wide capital f... |
OMIM:147891 |
| Infantile Liver Failure Syndrome 3 |
|
Abnormality of the epiphysis of the femoral head, Beaking of vertebral bodies, Hypoplastic verteb... |
OMIM:618641 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Short neck, Block vertebrae, Vertebral segmentation defect, Carpal synostosis, Epip... |
OMIM:272460 |
| Osteoglophonic Dysplasia |
|
High palate, Broad metacarpals, Eruption failure, Broad phalanx, Craniosynostosis, Platyspondyly,... |
OMIM:166250 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Hydrocephalus, Abnormality of the dentition, Osteopenia, Femoral... |
ORPHA:666 |
| Momo Syndrome |
|
High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Abnormal bone ossificat... |
ORPHA:2563 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Hydrocephalus, Platyspondyly |
OMIM:616482 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Irregular vertebral endplates, Metaphyseal irregularity, Flared metaphysis, Platyspondyly, Short ... |
OMIM:610442 |
| Coffin-Lowry Syndrome |
|
High palate, Kyphosis, Dental malocclusion, Narrow palate, Drumstick terminal phalanges, Hypodont... |
OMIM:303600 |
| Schwartz-Jampel Syndrome |
|
High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,... |
ORPHA:800 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Macrodontia, Sandal gap, Bowing of the long bones, Shor... |
ORPHA:1106 |
| Neu-Laxova Syndrome 2 |
|
High palate, Cleft palate, Short neck, Scoliosis, Rocker bottom foot, Spina bifida, Finger syndac... |
OMIM:616038 |
| 49,Xxxyy Syndrome |
|
Abnormality of the testis size, External genital hypoplasia, Micropenis, Ambiguous genitalia, Dec... |
ORPHA:261534 |
| Osteogenesis Imperfecta, Type I |
|
Recurrent fractures, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Osteopenia, Femora... |
OMIM:166200 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
| Pentalogy Of Cantrell |
|
Hydrocephalus, Cleft palate, Scoliosis, Anencephaly, Abnormality of tibia morphology, Oral cleft,... |
ORPHA:1335 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Ectopic anus, Kyphosis, Wide mouth, Anal atresia, Abnormal palate morphology, Wide anterior fonta... |
ORPHA:85199 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Cleft palate, Craniosynostosis, Osteopenia, Radioulnar synostosis, Phalangeal dislocation, Bowing... |
OMIM:130070 |
| Mosaic Trisomy 20 |
|
