Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Cervical Vertebral Dysplasia |
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Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Isolated Klippel-Feil Syndrome |
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Spina bifida, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Abnormal rib morp... |
ORPHA:2345 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Verte... |
OMIM:618845 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Dwarfism With Tall Vertebrae |
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Increased vertebral height |
OMIM:126950 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
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11 pairs of ribs, Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypopla... |
OMIM:617661 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Diaphanospondylodysostosis |
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Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Multiple... |
ORPHA:66637 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Autosomal Dominant Spondylocostal Dysostosis |
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Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atr... |
ORPHA:1436 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, S... |
OMIM:214300 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Block ... |
OMIM:613686 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Prominent metopic ridge, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae, Anal atresia |
OMIM:309620 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,... |
ORPHA:2522 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft ... |
OMIM:118100 |
Autosomal Recessive Spondylocostal Dysostosis |
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Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Hypospadias, Camptodacty... |
ORPHA:2311 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
Femoral-Facial Syndrome |
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Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Long penis, Abnormal rib mo... |
ORPHA:1988 |
Primary Basilar Invagination |
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Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Brachyolmia, Maroteaux Type |
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Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Sprengel Deformity |
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Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Poland Syndrome |
|
Sprengel anomaly, Short ribs, Rib fusion, Hemivertebrae |
OMIM:173800 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Submucous cleft ... |
OMIM:619227 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
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Lumbar hyperlordosis, Decreased hip abduction, Pectus carinatum, Genu valgum, Irregular vertebral... |
OMIM:609223 |
Becker Nevus Syndrome |
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Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Vertebral Hypoplasia With Lumbar Kyphosis |
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Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... |
ORPHA:3268 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate,... |
OMIM:601076 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Autosomal Dominant Brachyolmia |
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Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Abnormal cartilage col... |
ORPHA:485 |
Braddock Syndrome |
|
Unilateral renal agenesis, Missing ribs, Short neck, Pectus excavatum, Hemivertebrae, Scoliosis |
ORPHA:52047 |
Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum |
OMIM:608361 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Short neck, Flexion contracture, High palate, Cervical C2/C3 vertebral f... |
OMIM:616549 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... |
OMIM:271530 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... |
OMIM:616583 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Renal agenesis, Short neck, Hemivertebrae, Renal ... |
OMIM:615583 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, Ves... |
OMIM:617271 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis, Osteoarthritis... |
OMIM:618000 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Ectopic kidney, Short neck, Abnormal rib morphology, Azoospermia, Vertebral segme... |
ORPHA:2578 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... |
OMIM:617719 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of... |
OMIM:617974 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Abnormal thorax morphology, Azoospermia, Infertility, Scoliosis, Holopr... |
ORPHA:1445 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal thorax morphology, Abnormality of the vertebral column, Renal agenesis, Cleft palate |
ORPHA:294975 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Delayed skeletal maturation, Cleft palate, Scoliosis, Joint hypermobility |
OMIM:619504 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Aplasia/Hypoplasia of the patella, Hip dislocation, Horseshoe kidney, ... |
ORPHA:3320 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Unilateral renal agenesis, Pectus excavatum, Hydrocephalus, Scoliosis, J... |
OMIM:616362 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, High pala... |
OMIM:265000 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Joint stiffness, Missing ribs, Lateral clavicle hook, Limitation of joint m... |
ORPHA:1801 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... |
OMIM:613982 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Cleft pal... |
OMIM:244600 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... |
OMIM:609052 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:40 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Cryptorchidism, Flat acetabula... |
OMIM:617159 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Abnormality of the kidney, Down-sloping shoulders, Kyphosis, Cryptorchidism, Sp... |
ORPHA:1724 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:1354 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Atelosteogenesis, Type I |
|
Encephalocele, 11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Cryptorchidi... |
OMIM:108720 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Platyspondyly, Genu valgum |
OMIM:609324 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... |
ORPHA:313892 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Multicystic kid... |
ORPHA:2970 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Joint stiffness, Cryptorchidism, Cleft palate, Vertebral segmentation d... |
ORPHA:1166 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Thoracolumbar scoliosi... |
OMIM:313420 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Renal insufficiency, Hypospadias, Kyphoscoliosis, Short neck, Hem... |
OMIM:611209 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu... |
OMIM:617796 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Renal agenesis, Aganglionic megacolon, Renal hypoplasia, Horses... |
OMIM:607323 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia, Reduced sperm ... |
OMIM:602271 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... |
OMIM:178110 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... |
ORPHA:2619 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Cryptorchidism... |
ORPHA:2990 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... |
OMIM:259440 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo... |
OMIM:615709 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Fused cervical vertebr... |
OMIM:609053 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Cleft palate, Vertebral segmentation defect, Narrow chest,... |
ORPHA:1394 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Pyloric stenosis, Rib fusion, Cleft palate, Scoli... |
ORPHA:261197 |
Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Ce... |
OMIM:617190 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Urinary incontinence, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3... |
ORPHA:268882 |
Pyle Disease |
|
Abnormal thorax morphology, Reduced bone mineral density, Genu valgum, Platyspondyly, Scoliosis, ... |
OMIM:265900 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Renal hypoplasia/aplasia, Hydrocephalus, Abnor... |
ORPHA:1834 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Spina bifida occulta, Wrist flexion contracture, Bifid uvula, Dislocated ... |
ORPHA:1826 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax, Osteoarthritis |
ORPHA:93283 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal hypoplasia, Cleft palate, A... |
OMIM:618494 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... |
OMIM:601344 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Cryptorc... |
ORPHA:3027 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... |
ORPHA:2332 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Tracheoesophageal fistula, Rectovaginal f... |
ORPHA:1780 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... |
ORPHA:2234 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Kyphoscoliosis, Renal cyst, Horseshoe kidn... |
OMIM:614815 |
Emanuel Syndrome |
|
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Unilatera... |
ORPHA:96170 |
Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Hemivertebrae, Ve... |
ORPHA:377 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Camptodactyly of finger, Unilateral renal agenesis, Kyphosis, Cryptorchidis... |
OMIM:619951 |
Emanuel Syndrome |
|
Sacral dimple, Recurrent urinary tract infections, Congenital hip dislocation, Intestinal malrota... |
OMIM:609029 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Abnormality of the upper urinary tract, Elbow dislocation, Kyphosis, Hemiverteb... |
ORPHA:2916 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process |
ORPHA:85172 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly, Premature osteoarthritis, Cleft palate |
OMIM:184840 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... |
OMIM:271650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Acropectorovertebral Dysplasia |
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Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... |
OMIM:102510 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Hypospadias, Renal ag... |
ORPHA:508498 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Hypospadias, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Esoph... |
OMIM:206900 |
Multiple Epiphyseal Dysplasia Type 5 |
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Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly |
OMIM:156510 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Odontochondrodysplasia 1 |
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Biconvex vertebral bodies, Genu recurvatum, Osteoporosis, Flat acetabular roof, Pectus carinatum,... |
OMIM:184260 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Platyspondyly, Osteoarthritis |
OMIM:271600 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... |
ORPHA:1159 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Back pain, Renal cyst |
OMIM:174050 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
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Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... |
OMIM:617405 |
Robinow Syndrome, Autosomal Recessive 1 |
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Short neck, Hemivertebrae, Nephrocalcinosis, Thoracic hemivertebrae, Micropenis, Dislocated radia... |
OMIM:268310 |
Septopreoptic Holoprosencephaly |
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Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encepha... |
ORPHA:280195 |
Osteogenesis Imperfecta, Type Xv |
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Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Pallister-Hall Syndrome |
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Renal dysplasia, Decreased testicular size, Hydroureter, Distal urethral duplication, Ectopic kid... |
OMIM:146510 |
Thoracolaryngopelvic Dysplasia |
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Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Gm1-Gangliosidosis, Type Iii |
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Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae |
OMIM:230650 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Unilateral renal agenes... |
OMIM:213980 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Unilateral renal agenesis, Accelerated skeletal maturation, Cryptorchidism, Hydrocephalus, Neonat... |
OMIM:101800 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Atelosteogenesis, Type Ii |
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Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Lacunar halo... |
OMIM:256050 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal bone ossificati... |
ORPHA:93315 |
Joubert Syndrome 7 |
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Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Genu valgum, Scoliosis, Nephronophthisis |
OMIM:611560 |
Cutis Laxa, Autosomal Dominant 3 |
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Os odontoideum, Osteopenia, Joint laxity, Unilateral renal agenesis, Hip dislocation, Wormian bon... |
OMIM:616603 |
Neural Tube Defects, Susceptibility To |
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Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Mye... |
OMIM:182940 |
Aarskog-Scott Syndrome |
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Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidism, Cleft pal... |
ORPHA:915 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Short neck, Pectus excavatum, Kyphosis, Cryptorchidism, Men... |
OMIM:130720 |
Kbg Syndrome |
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Vertebral fusion, Short neck, Epispadias, Cryptorchidism, Delayed skeletal maturation, Rib fusion... |
OMIM:148050 |
Mesomelic Dysplasia, Kantaputra Type |
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Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Anteriorly placed anus, Narrow chest, Vesicoureteral re... |
ORPHA:95699 |
Diaphanospondylodysostosis |
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Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Leopard Syndrome 1 |
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Scapular winging, Hypospadias, Kyphoscoliosis, Missing ribs, Short neck, Unilateral renal agenesi... |
OMIM:151100 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
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Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula... |
ORPHA:1345 |
Alkaptonuria |
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Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr... |
OMIM:203500 |
Mucopolysaccharidosis, Type Iva |
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Short neck, Pectus carinatum, Anterior beaking of lumbar vertebrae, Flaring of rib cage, Chondroi... |
OMIM:253000 |
Femoral-Facial Syndrome |
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Renal agenesis, Abnormal renal collecting system morphology, Missing ribs, Limited elbow movement... |
OMIM:134780 |
Apert Syndrome |
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Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Delayed epip... |
OMIM:101200 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... |
OMIM:618395 |
Juberg-Hayward Syndrome |
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Hypospadias, Abnormality of the elbow, Abnormal rib morphology, Horseshoe kidney, Anteriorly plac... |
ORPHA:2319 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
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Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Delayed skeletal ma... |
OMIM:611555 |
Koolen-De Vries Syndrome |
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Ureteral duplication, Vertebral fusion, Hypospadias, Pectus excavatum, Kyphosis, Cryptorchidism, ... |
ORPHA:96169 |
Spondyloepiphyseal Dysplasia Tarda |
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Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Meckel Syndrome, Type 8 |
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Encephalocele, Occipital encephalocele, Short neck, Cleft palate, Narrow chest, Polycystic kidney... |
OMIM:613885 |
Thanatophoric Dysplasia Type 2 |
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Encephalocele, Abnormality of the kidney, Kyphosis, Hydrocephalus, Short thorax, Limitation of jo... |
ORPHA:93274 |
Bruck Syndrome 2 |
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Osteopenia, Wormian bones, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Incr... |
OMIM:609220 |
Vacterl/Vater Association |
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Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Multicysti... |
ORPHA:887 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Cleft palate, Ab... |
ORPHA:90650 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Intestinal malrotation, Missing ribs, Hydrocephalus, Vertebral wedging, Platyspondyly, Decreased ... |
OMIM:617866 |
Spondyloepiphyseal Dysplasia Congenita |
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Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Abnormal rib morphology |
ORPHA:2435 |
Caudal Duplication |
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Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... |
ORPHA:1756 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... |
OMIM:184252 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... |
ORPHA:93351 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Hiatus hernia, Rib fusion, Hemivertebrae, Cleft pala... |
OMIM:304050 |
Apert Syndrome |
|
Esophageal atresia, Hydrocephalus, Cervical C5/C6 vertebrae fusion, Narrow palate, Cleft palate, ... |
ORPHA:87 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Short ... |
ORPHA:1507 |
Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Ureteral duplication, Renal malrotation, Spina bifida, Lateral clavicle hook, ... |
OMIM:274000 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... |
OMIM:208230 |
Spondylocarpotarsal Synostosis Syndrome |
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Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck... |
OMIM:272460 |
Isolated Polycystic Liver Disease |
|
Back pain, Multiple renal cysts |
ORPHA:2924 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Unilateral renal agenesis, Pectus excavatum, Cryptorchidism, Prima... |
OMIM:244200 |
Hall-Riggs Syndrome |
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Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral endplates, Platyspondyly... |
OMIM:234250 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplasia of the od... |
OMIM:264180 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Joint stiffness, Thoracic plat... |
ORPHA:166011 |
Dental Anomalies And Short Stature |
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Delayed skeletal maturation, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narro... |
OMIM:601216 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Hydrocephalus, Hamartomat... |
OMIM:109400 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... |
OMIM:609616 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Pectus car... |
OMIM:184250 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... |
ORPHA:93267 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Autosomal Recessive Stickler Syndrome |
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Cleft palate, Genu valgum, Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility |
ORPHA:250984 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... |
OMIM:619131 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Rib fusion, Cl... |
ORPHA:50 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Wide anterior fontanel, Abnor... |
ORPHA:163649 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Aplasia/Hypoplasia of the ri... |
ORPHA:168549 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r... |
ORPHA:1703 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Elbow contracture, Pectus excava... |
OMIM:617137 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Congenital hip dislocation, Unilateral renal agenesis, Flexion contracture,... |
OMIM:308050 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short neck, Hy... |
OMIM:607326 |
Ollier Disease |
|
Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple enchondromatosis,... |
ORPHA:296 |
Chops Syndrome |
|
Tracheomalacia, Cryptorchidism, High, narrow palate, Horseshoe kidney, Vesicoureteral reflux, Cer... |
OMIM:616368 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Short ribs, Narrow chest, Beaking of vert... |
OMIM:618961 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Nephrolithiasis, Derma... |
OMIM:619698 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Multicystic kidney dysplasia, Kyphoscoliosis, Missing ribs, Webbed peni... |
ORPHA:97360 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Hig... |
ORPHA:2180 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... |
ORPHA:2771 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Glossoptosis, Platyspondyly, Dela... |
ORPHA:93346 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... |
OMIM:608728 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Arthrogryposis mult... |
OMIM:236500 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal vertebral epiphysis... |
ORPHA:90653 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology, Spina bifida |
ORPHA:64754 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Osteoporosis |
ORPHA:71267 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Ovoid vertebral bodies, Abnormality of the vertebral endplates, Limited elbow extension, Cleft pa... |
ORPHA:1856 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Limitation of joint mobility |
OMIM:619598 |
Atelosteogenesis Type I |
|
Joint dislocation, Malrotation of colon, Abnormal ossification involving the femoral head and nec... |
ORPHA:1190 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Short thorax, Rect... |
OMIM:617666 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Sacral dimple, Hypospadias, Anencephaly, Renal cyst, Cleft palate, Campt... |
OMIM:614175 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short... |
ORPHA:2655 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Increased bone mineral density, Hypospadias, Tarsal synostosis, Camptodactyly of f... |
ORPHA:90652 |
White Forelock With Malformations |
|
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... |
ORPHA:2475 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Fractures of the long bones, Delayed skeletal maturation, Os... |
ORPHA:319195 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral... |
ORPHA:2078 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal sternum morphology, Scoliosis, C... |
OMIM:616737 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Abnormal thorax mo... |
ORPHA:1318 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Cryptorchidism, Elbow disloc... |
OMIM:150250 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Hors... |
OMIM:157800 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Ectopic kidney, Pectus excavatum, Hemivertebrae, Renal hypoplasia, Radioulnar syn... |
OMIM:212780 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hydrocephalus, Thin ribs, Platyspondyly, Decreased skull ossification |
OMIM:300863 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Enuresis noctu... |
OMIM:614856 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Platyspondyly, Short ribs,... |
OMIM:187601 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Delayed skeletal maturation, Platyspondyly, Wormian bones, Thoracic kyphosis |
OMIM:619638 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Ankle flexion contracture,... |
ORPHA:464311 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Pectus excavatum, Kyphosis, ... |
OMIM:619194 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Short neck, High, narrow ... |
ORPHA:3015 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Renal malrotation, Congenital hip dislocation, Intestinal malr... |
OMIM:113650 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Platyspondyly, Flexion contracture |
ORPHA:157965 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... |
ORPHA:263508 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... |
OMIM:615993 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Hypospadias, Abnormality of the kidney, Kyphosis, ... |
ORPHA:280 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, High palate, Hypogonadism, Joint hypermobility |
ORPHA:3306 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... |
ORPHA:582 |
7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Pectus excavatum, Cryptorchidi... |
ORPHA:96121 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... |
OMIM:253010 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... |
ORPHA:1486 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, P... |
ORPHA:83617 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Bell... |
OMIM:602557 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... |
OMIM:177170 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Craniosynostosis, Vertebral clefting, Hypercalciuria, Increased sus... |
OMIM:241500 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Spina bifida, Short neck, Camptodactyly of finger, Kyphos... |
ORPHA:261318 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... |
OMIM:166210 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Communicating hydrocephalus, Wide cranial sutures, Recurrent fractures, Unilateral re... |
OMIM:618188 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Hydrocephalus,... |
OMIM:616294 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion,... |
OMIM:617140 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Pectus carinatum, Thoracic kypho... |
ORPHA:93314 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... |
OMIM:602111 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Short neck, Pectus excavatum, Abnormal cartilage collagen, Dela... |
OMIM:156550 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormality of the vertebral column, Abnorm... |
OMIM:276950 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... |
ORPHA:93352 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal ... |
ORPHA:2759 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Irregular vertebral endplates, Osteosclerosis of ribs... |
ORPHA:174 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Hypospadias, Fractured radius, Beaded ribs, Short neck, Multi... |
OMIM:616897 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Wide anterior fontanel, Abnormal cartilage morphology, Abnormal... |
ORPHA:2347 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate, Unilateral renal agenesis |
OMIM:601355 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Abnormal shoulder morphology... |
ORPHA:2115 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cryptorchidism, Platyspondyly, Short neck |
OMIM:618958 |
Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Myelomeningocele, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Hypospadias, Unilateral renal agenesis, Pectus excavatum, Kyphosis, ... |
ORPHA:464306 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebra... |
OMIM:252900 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Congenital hip dislocation, Cervical kyphosis, Kyphoscolio... |
OMIM:255800 |
Odontochondrodysplasia |
|
Joint hyperflexibility, Platyspondyly, Narrow chest, Scoliosis |
ORPHA:166272 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... |
ORPHA:93941 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... |
OMIM:616229 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... |
OMIM:218600 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Unilateral renal agenesis, Pectus excavatum, Hydrocephalus, Scoliosis, J... |
ORPHA:457284 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Ureteral stenosis, Hydroureter, Pectus excavatum, Delayed skeletal maturation, Osteop... |
OMIM:615398 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Delayed skeletal maturation, Cuboid-shaped vertebral bodies, ... |
OMIM:239850 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstructi... |
OMIM:601389 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Distal tibial bowing, Genu valgum, Irregular vertebral endplates, Platyspon... |
OMIM:156500 |
Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... |
ORPHA:3168 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... |
OMIM:171480 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Renal cyst, High palate, Dislocated radial head, Joint laxity, Hypospadia... |
OMIM:102500 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Pectus excavatum, Kyphosis, Osteoarthritis, Submucous cleft hard pa... |
OMIM:108300 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent metopic ridge, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unila... |
ORPHA:468631 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... |
OMIM:216360 |
Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal penis ... |
ORPHA:2461 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... |
ORPHA:281090 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Spina bifida, Short neck, Elbow dislocation, Crypto... |
ORPHA:99776 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Recurrent urinary tract infections, Prominent metopic ridge, Pec... |
OMIM:610443 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningoce... |
ORPHA:1393 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Craniosynostosis, Kyphosis, Hydrocephalus, Flexion contracture, Dilata... |
ORPHA:314588 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Arthrit... |
ORPHA:221139 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... |
ORPHA:2484 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pectus excavatum, Secondary amenorrhea, J... |
ORPHA:3375 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Kyphoscoliosis, Hip subluxation, Kyphosis, Delayed epiphyseal ossification, General... |
ORPHA:93360 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Irre... |
OMIM:226980 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbo... |
ORPHA:94068 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Hydroc... |
ORPHA:3301 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Hydr... |
ORPHA:85284 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short neck, Wide-cupped costochondral junctions, Hydrocephalus,... |
OMIM:187600 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Pyloric stenosis, Generaliz... |
OMIM:613848 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Abnormal rib morphology, Reduced bone mineral density, Ant... |
ORPHA:1488 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, High palate, Hydronephrosis |
OMIM:609757 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Sacral dimple, Camptodactyly of finger, Unilateral renal agenesis, Cryptorchid... |
ORPHA:261337 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Irregular vertebral endplates,... |
OMIM:612350 |
Kaposiform Lymphangiomatosis |
|
Abnormal thoracic spine morphology, Metrorrhagia, Abnormal scapula morphology, Pancreatic cysts, ... |
ORPHA:464329 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... |
OMIM:223800 |
Anauxetic Dysplasia 3 |
|
Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Genu valgum, Platyspondyl... |
OMIM:618853 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Polycystic kidney dysplasia |
OMIM:608776 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Esophageal atresia, Hydrocephalus, Ren... |
OMIM:614083 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Abnormality of the vertebral endplates, Hypoplasia of the o... |
ORPHA:239 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... |
OMIM:617952 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Platyspondyly |
OMIM:601356 |
Trisomy 13 |
|
Kyphosis, Cryptorchidism, High, narrow palate, Abnormal rib morphology, Abnormality of the ureter... |
ORPHA:3378 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... |
ORPHA:363444 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elb... |
OMIM:607095 |
Cenani-Lenz Syndrome |
|
Renal hypoplasia/aplasia, Elbow dislocation, High, narrow palate, Abnormal rib morphology, Hip di... |
ORPHA:3258 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Unilateral renal agenesis, Aqueductal stenosis, Velopharyngeal insufficien... |
OMIM:154400 |
Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Enlarged interphalangeal joints, Hyperlordosis, Short neck, Hypoplasia of th... |
OMIM:615222 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Joint stiffness, Renal hypoplasi... |
ORPHA:2167 |
Spondylo-Ocular Syndrome |
|
Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys... |
ORPHA:85194 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Sacral dimple, Rib fusion, Celiac disease |
ORPHA:544488 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... |
OMIM:120330 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... |
OMIM:300232 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Hypospadias, Kyphosis, Cryptorch... |
OMIM:194190 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Pyloric stenosis, Delayed skeletal maturation, Scoliosis, Limited elbo... |
OMIM:618419 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Alagille Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Delayed skeletal maturation, Abnormal rib morphology, A... |
ORPHA:52 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micropenis, Crossed fused renal ectopia, High palate, Unilateral renal agenesis |
OMIM:618142 |
Platyspondylic Dysplasia, Torrance Type |
|
Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Cleft palate, Platyspondyly, Narr... |
ORPHA:85166 |
3M Syndrome |
|
Scapular winging, Congenital hip dislocation, Hypospadias, Hyperlordosis, Short neck, Increased v... |
ORPHA:2616 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal for... |
ORPHA:2050 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Pectus excavatum, Radioulnar synostosis, Multicystic kidney dysplasia |
ORPHA:3270 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Prominent metopic ridge, Short neck, Hydrocephalus, Urethral... |
ORPHA:261290 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Hydrocephalus, Thin ribs |
ORPHA:163966 |
Achondrogenesis Type 1B |
|
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow chest... |
ORPHA:93298 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Camptodactyly of finger, Short neck, Cryptorchidism, Limitation of joi... |
ORPHA:96061 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... |
OMIM:228520 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... |
ORPHA:1517 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Cryptorchidism, Hyperextensible hand ... |
OMIM:227330 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology, Spina bifida |
ORPHA:1120 |
Burn-Mckeown Syndrome |
|
Cleft palate, Bifid uvula, Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Hypospadias, Tracheomalacia, Horseshoe kidney, Glossoptosis, Macroglossia, High pa... |
ORPHA:444077 |
Poland Syndrome |
|
Short neck, Hemivertebrae, Pectus carinatum, Reduced bone mineral density, Vertebral segmentation... |
ORPHA:2911 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Hydrocephalus, Cleft palate,... |
ORPHA:2075 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Short neck, Platyspondyly |
OMIM:612813 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Hyperlordosis, Cleft palate, Anteriorly placed anus, Camptodactyly |
OMIM:619980 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short neck, Delayed epiphyseal ossification, Delayed skeletal maturation, Flat acetabular roof, B... |
OMIM:613320 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebra... |
OMIM:252920 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... |
OMIM:224300 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal corte... |
ORPHA:2260 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of f... |
ORPHA:1606 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis, Delayed skeletal maturation, L... |
ORPHA:3068 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Renal agenesis, Kyphoscoliosis, Missing ribs, Hemivertebrae, Abnormality of... |
OMIM:200980 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Short neck, Pectus excavatum, Cryptorchidism, Hip dislocation, Cervical C5/C6 vert... |
OMIM:613458 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Renal malrotation, Aganglionic megacolon, Renal hypoplasia/aplasia, Horseshoe k... |
ORPHA:959 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re... |
OMIM:613680 |
Lowry-Wood Syndrome |
|
Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Platyspondyly, Patellar dislocat... |
ORPHA:1824 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... |
OMIM:151210 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated sk... |
ORPHA:373 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... |
OMIM:143400 |
Grant Syndrome |
|
Joint dislocation, Abnormal rib morphology, Joint hyperflexibility, Narrow chest, Wormian bones, ... |
ORPHA:2097 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Hy... |
OMIM:618476 |
Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Joint stiffness, Abnormal sacroiliac joint morphology, Wide anterior f... |
ORPHA:1860 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Hydrocephalus, Esophageal varix, Inflammation of the large intestine, ... |
OMIM:614576 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Lateral clavicle hook, Enlarged... |
OMIM:613091 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... |
OMIM:231070 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts, Kyphoscoliosis, Pectus excavatum, Platyspondyly, Delayed ossification of carpal bo... |
OMIM:617425 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Ovoid thorac... |
OMIM:252930 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Hiatus hernia, Joint subluxation, Vesicoureteral reflux, Joint hypermo... |
OMIM:606408 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Flexion contracture, Abnormal sternum morphology, Scolios... |
ORPHA:487796 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Osteoarthritis,... |
ORPHA:1427 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum, Macroglossia, Mucopol... |
ORPHA:583 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Enlarged joints, Flexion contracture, Premature osteoarthritis, Cleft palat... |
OMIM:215150 |
Dysosteosclerosis |
|
Increased bone mineral density, Recurrent fractures, Hypoplastic vertebral bodies, Irregular vert... |
ORPHA:1782 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... |
OMIM:610915 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
Elsahy-Waters Syndrome |
|
Anal stenosis, Hypospadias, Bilateral cryptorchidism, Pectus excavatum, Anteriorly placed anus, H... |
OMIM:211380 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Joint laxity, Phalangeal dislocation, Hyperlordosis, Short neck, Kyphosis, Ost... |
OMIM:251450 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Kyphosis, Chronic ... |
ORPHA:261222 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormali... |
ORPHA:93316 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Pectus excavatum, Radial head subluxation, Hip di... |
OMIM:615777 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Short neck,... |
ORPHA:958 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Joint laxity, Thoracic scoliosis, Congenital hip dislocation, Abnormality of the ... |
ORPHA:508488 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ribs |
OMIM:615633 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Abnormally ossified vertebrae, Abnormal rib morphology, Intestinal malrotation |
ORPHA:3035 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Microglossia, Cleft palate, P... |
OMIM:263520 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Radioulnar synostosis, Unilateral renal agenesis |
OMIM:614900 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosi... |
ORPHA:3412 |
Czech Dysplasia |
|
Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ... |
OMIM:609162 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
Duane Retraction Syndrome |
|
Ectopic kidney, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Cleft pa... |
ORPHA:233 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:392 |
Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Hypergonadotropic hypogonadism, Short neck, Esophageal atresia, Hydrocephalus, Tr... |
OMIM:300514 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Kyphosis, Flexio... |
ORPHA:90324 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... |
OMIM:620076 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Protruding tongue, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Thora... |
OMIM:230600 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic... |
OMIM:308205 |
Occipital Horn Syndrome |
|
Joint laxity, Persistent open anterior fontanelle, Ureteral obstruction, Broad clavicles, Kyphosi... |
OMIM:304150 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Pyelonephr... |
ORPHA:90348 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphism, Vesicour... |
OMIM:617660 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Pectus excavatum, Hip dislocation, Advanced ossificatio... |
OMIM:615349 |
Oeis Complex |
|
Congenital hip dislocation, Epispadias, Hemivertebrae, Anteriorly placed anus, Duplicated colon, ... |
OMIM:258040 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Accelerated skeletal maturation, Thoracic platyspondyly... |
OMIM:619636 |
Hall-Riggs Syndrome |
|
Delayed skeletal maturation, Platyspondyly, Scoliosis, Joint stiffness |
ORPHA:2107 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Unilateral renal agenesis, Bilateral renal dysplasia, Sagit... |
ORPHA:500150 |
Renal Tubular Dysgenesis |
|
Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysg... |
ORPHA:3033 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral ren... |
ORPHA:268261 |
Spondyloperipheral Dysplasia |
|
Barrel-shaped chest, Ovoid vertebral bodies, Short neck, Kyphosis, Flat acetabular roof, Pectus c... |
OMIM:271700 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Renal agenesis, Cryptorchidism, Hydrocephalus, Hemivertebrae, Re... |
OMIM:264480 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism... |
ORPHA:672 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Short neck, Wide anterior fontanel, Flexion contracture, Polycystic kidney dysplasia, Decreased s... |
OMIM:263210 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short... |
OMIM:242900 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Cryptorchidism, Delayed skeletal maturation, Elbow flexion contracture, Hypercalc... |
OMIM:618440 |
Infantile Liver Failure Syndrome 3 |
|
Hypoplastic vertebral bodies, Beaking of vertebral bodies, Abnormal acetabulum morphology, Platys... |
OMIM:618641 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Enlargement of the ankles, Multiple joint contractures, Unilateral renal agenesis, Short neck, Ab... |
ORPHA:99646 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Joint stiffness, Renal hypoplasia/aplasia, High, narrow palate, Short neck, Cleft... |
ORPHA:2516 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cryptorchidism, Nephrotic syndrome... |
ORPHA:110 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Unilateral renal agenesis |
OMIM:618504 |
Alveolar Echinococcosis |
|
Low back pain, Pancreatic cysts, Renal cyst, Abnormal sternum morphology, Abnormal bladder morpho... |
ORPHA:284 |
Rhyns Syndrome |
|
Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Delayed skeletal matura... |
ORPHA:140976 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Renal cyst |
OMIM:614870 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... |
OMIM:184253 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... |
OMIM:215140 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Wide anterior fontanel, Hydrocephalus, Irre... |
OMIM:616482 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Hyperphosphaturia, Calcification of the auricular cartilage, Osteomalaci... |
ORPHA:51608 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Abnormality ... |
OMIM:230500 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Craniosynostosis, Unilateral renal agenesis |
ORPHA:1064 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Holoprosencephaly, Micropenis, Bifid uvula, Penoscrotal hypospadias, Hypospadias, Cry... |
OMIM:270400 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Hypoplastic scapulae, Congenital hip dislocation, Short clavicle... |
OMIM:169550 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Pectus excavatum, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossific... |
OMIM:611717 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, High ... |
ORPHA:85184 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel... |
OMIM:265380 |
Osteopathia Striata With Cranial Sclerosis |
|
Craniofacial osteosclerosis, High palate, Broad ribs, Spina bifida occulta, Bifid uvula, Multicys... |
OMIM:300373 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platy... |
OMIM:618019 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis... |
OMIM:308750 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Flexion contracture, Polycystic kidney dysplasia |
OMIM:617562 |
Nager Syndrome |
|
Cleft palate, Unilateral renal agenesis, Joint stiffness |
ORPHA:245 |
Achondroplasia |
|
Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Hydrocephalus, Lumbar kyph... |
OMIM:100800 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoospermia, High palat... |
OMIM:308700 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn... |
OMIM:192350 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Delayed skeletal maturation, P... |
OMIM:616723 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short neck, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Sho... |
OMIM:616546 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Thoracolumbar scoliosis, Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts, ... |
OMIM:610199 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, High, narrow palate, Abnormal ... |
ORPHA:1452 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... |
ORPHA:79345 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Cryptorchidism, Pyloric st... |
ORPHA:261494 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi... |
OMIM:616507 |
Digeorge Syndrome |
|
Renal dysplasia, Pilonidal sinus, Renal insufficiency, Unilateral renal agenesis, High, narrow pa... |
OMIM:188400 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Intestinal malrotation, Hamartoma of tongue, Short neck, Hydrocephalus, Sho... |
OMIM:269860 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum,... |
ORPHA:261349 |
Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Cleft palate, Abnormal st... |
ORPHA:1335 |
Epidermal Nevus Syndrome |
|
Osteopenia, Spinal canal stenosis, Thoracolumbar scoliosis, Polycystic kidney dysplasia |
ORPHA:35125 |
Saul-Wilson Syndrome |
|
Pectus excavatum, Wide anterior fontanel, Hypoplasia of the odontoid process, Madelung deformity,... |
OMIM:618150 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic sacrum, Hypoplastic scapulae, Beaded ribs, Short neck, Broad cla... |
OMIM:200600 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Submucous cleft hard palate, Supernumerary ribs, Six lumbar v... |
OMIM:619122 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Hypospadias, Camptodactyly of finger, Delayed closure of the anterior fontanell... |
OMIM:607872 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Cryptorchidism, Limitation of joint mobility, Clef... |
OMIM:139210 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Accelerated skeletal maturation, Multiple joint dislocation, Pectus carin... |
OMIM:245600 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregu... |
OMIM:607944 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Villous atrophy, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypo... |
OMIM:212065 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Flat acetabular roo... |
OMIM:614091 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Small cervical vertebral bodies, Renal insufficiency, Hypospadias, Long ... |
ORPHA:397715 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Urin... |
ORPHA:79255 |
Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Pectus carina... |
ORPHA:175 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Abnormality of ... |
ORPHA:400 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Renal cyst, Anteriorly placed anus, High palate, Broad ... |
ORPHA:798 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Ren... |
ORPHA:1692 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Loeys-Dietz Syndrome 6 |
|
Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Schwartz-Jampel Syndrome |
|
Short neck, Pectus carinatum, High palate, Wrist flexion contracture, Abnormally ossified vertebr... |
ORPHA:800 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short neck, Cryptorchidism, Hydrocepha... |
OMIM:257300 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Multiple joint dislocation, Pectus carinatum, High palat... |
ORPHA:536467 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Delayed skeletal maturation, S... |
OMIM:612921 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Opsismodysplasia |
|
Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Flat acetabular roof, Hypop... |
OMIM:258480 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Minimal change glomerulone... |
ORPHA:1830 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Generalized bone de... |
ORPHA:73230 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, Anterior wedging o... |
OMIM:253200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Hyperlordosis, Wide anterior fontanel, Glutaric aciduria, Lacticaciduria, 3-Met... |
ORPHA:26791 |
Iniencephaly |
|
Encephalocele, Renal agenesis, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra, An... |
ORPHA:63259 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Delayed skeletal maturat... |
OMIM:271510 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Bone pain, Pectus carinatum, Decreased skull ossification, Hypospadias, O... |
ORPHA:955 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Limitation of j... |
ORPHA:93473 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Nephronophthisis |
OMIM:614465 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short neck, Primary amenorrhea, Cleft palate, Shield chest, Cubitus valgus |
ORPHA:247768 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Cleft palate, Short ribs, Horizontal ribs |
OMIM:200610 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thor... |
ORPHA:457395 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... |
OMIM:211350 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Craniosynostosis, Short neck, Camptodactyly of finger,... |
DECIPHER:81 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Short neck, High, narrow palate, Renal cyst, High palate, Vesicoureteral reflux, ... |
OMIM:122470 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Pectus excavatum, High, narrow palate, Delayed skeletal maturation,... |
ORPHA:369837 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short neck, Pyloric stenosis, Joint hyperflexibility, Tracheomalaci... |
ORPHA:1001 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Delayed closure of the anterior fontanelle, Renal hypoplasia... |
OMIM:618460 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Spina bifida, Renal hypoplasia/aplasia, Ho... |
ORPHA:2092 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide anterior fontanel, Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... |
ORPHA:93317 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Aplastic clavicle, Accelerated skeletal maturation, Protruding to... |
ORPHA:50945 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Hydrocephalus, Scolio... |
ORPHA:1454 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Spina bifida, Missing ribs, Short neck, Cry... |
ORPHA:2308 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis |
OMIM:616541 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Inc... |
OMIM:259770 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Microphallus, Scoliosis, Vesicoureter... |
OMIM:618454 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Renal agenesis, Block vertebrae, Posteriorly p... |
OMIM:306955 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Hypospadias, Broad clavicles, Cryptorchidi... |
OMIM:151050 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Cubitus valgus, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, High pa... |
OMIM:269300 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Wide anterior fontanel, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Lateral clavicle hook, Pectus carinatum, High palate, Dislocated rad... |
OMIM:182212 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... |
OMIM:612394 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Pectus carinatum, Knee flexion contracture, Abnormal calcification of the carpal bone... |
OMIM:271665 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... |
ORPHA:195 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... |
OMIM:271640 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Hamartoma of tongue, Unicoronal synostosis, Cryptorchidism, Renal hypoplasia, Rena... |
OMIM:616300 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Platyspondyly, Large knee, Scoliosis, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... |
OMIM:610682 |
Spondyloenchondrodysplasia |
|
Proteinuria, Kyphosis, Chronic kidney disease, Pectus carinatum, Hematuria, Arthritis, Platyspond... |
ORPHA:1855 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Short n... |
ORPHA:2059 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Multiple joint dislocation... |
OMIM:619503 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia, Scoliosis, Spinal dysraphism |
OMIM:612918 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Short neck, Renal cyst, High palate, Narrow chest, Nephronophth... |
OMIM:266920 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:617056 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Hydrocephalus, Abnormal ... |
ORPHA:77301 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Cryptorchidism, Hydrocephalus, Short thora... |
ORPHA:261344 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
Fryns Syndrome |
|
Ureteral duplication, Meckel diverticulum, Anal atresia, Hypospadias, Renal agenesis, Aganglionic... |
OMIM:229850 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Pectus carinatum, Narrow chest, Abnormality of the wrist, Osteom... |
ORPHA:198 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Joint stiffness, Epispadias, Cryptorchidism, Submucous cl... |
ORPHA:2588 |
Neurofaciodigitorenal Syndrome |
|
Pectus excavatum, Cryptorchidism, Abnormality of the elbow, Unilateral renal agenesis |
ORPHA:2673 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... |
ORPHA:89936 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... |
OMIM:252600 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Recurrent urinary tract infections, Thickened ribs, Communicating hydro... |
ORPHA:309282 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused renal ectopia,... |
OMIM:617466 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Block vertebrae, Renal agenesis, Ectopic k... |
OMIM:164210 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
C Syndrome |
|
Fused sternal ossification centers, Cryptorchidism, Delayed skeletal maturation, Hip dislocation,... |
OMIM:211750 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Renpenning Syndrome |
|
Hypospadias, Joint stiffness, Pectus excavatum, High, narrow palate, Abnormal rib morphology, Cle... |
ORPHA:3242 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Micropenis, Spina b... |
ORPHA:488434 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Renal cyst, Knee flexion contra... |
OMIM:210710 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Osteomalacia, Cryptorchidism... |
ORPHA:534 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Kyphoscoliosis, Protruding tongue, Kyphosis, Cryptorchidism, Hemiver... |
OMIM:301040 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... |
OMIM:250420 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
Spondyloocular Syndrome |
|
Osteopenia, Unilateral cryptorchidism, Duodenal ulcer, Pectus carinatum, Shield chest, Platyspond... |
OMIM:605822 |
Aspergillosis |
|
Osteomyelitis, Abnormality of the kidney, Abnormal rib morphology, Abnormality of the vertebral c... |
ORPHA:1163 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Congenital hip dislocation, Protrusio acetabuli, Kyp... |
OMIM:225400 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... |
ORPHA:536471 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Dislocated radial head, Hypospadias, C... |
ORPHA:2044 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossification, S... |
ORPHA:93271 |
Trisomy 10P |
|
Wide cranial sutures, Abnormality of the kidney, Hemivertebrae, Multiple renal cysts, High palate... |
ORPHA:171929 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Broad clavicles, Irregular menstruation, Broad ribs, Sclerotic vertebral endp... |
OMIM:269500 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral... |
ORPHA:354 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Metopic synostosis, Cryptorchidism, Unilateral renal agenesis |
OMIM:620024 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,... |
ORPHA:1848 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Intestinal malrotation, Unilateral renal agenesis, Aqueductal stenosis... |
OMIM:620305 |
Hypophosphatasia |
|
Narrow chest, Abnormal rib morphology, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Methylmalonic aciduria, Glossitis, Unilateral renal agenesis |
ORPHA:79284 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short neck, Cryptorchidism, Humeroradial synostosis, Abnormal rib morp... |
ORPHA:3404 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Short neck, Decreased calvarial ossification, Holoprosencephaly, Polycys... |
OMIM:619879 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis, Anal ... |
OMIM:613390 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Cryptorchidism, Abnormal rib morphology, Cleft palate, Popliteal pterygium, Scol... |
ORPHA:1300 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Accelerated skeletal maturation, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Exa... |
OMIM:312870 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft palate |
OMIM:603194 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver... |
ORPHA:508533 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Pectus excavatum, Kyphosis, Cryptorchidism, Abn... |
ORPHA:2215 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology |
ORPHA:2643 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Short neck... |
ORPHA:818 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Cry... |
ORPHA:2052 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Delayed epiphyseal ossification, Patellar hypoplasia, Pect... |
OMIM:114290 |
Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormal ri... |
ORPHA:2145 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Craniosynostosis, Short neck, Hypoplasia of the small intestine, Cystic renal ... |
OMIM:200995 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Narrow chest, Hypospadias, Spina bifid... |
OMIM:304120 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Abnormal rib morphology, Hemi... |
OMIM:118450 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Renal cyst |
OMIM:611134 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Horizontal inferior border of scapula, Platyspondyly, Anterior rib c... |
OMIM:102700 |
Genitopalatocardiac Syndrome |
|
Cleft palate, Hypospadias, Renal cyst |
OMIM:231060 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly |
OMIM:193500 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... |
OMIM:309000 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Cry... |
OMIM:227645 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi... |
ORPHA:1475 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Multicystic kidney dysplasia, Meningocele, Renal cyst |
ORPHA:2031 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Bifid ureter, Macroglossia, Camptodactyly, Nephr... |
ORPHA:500095 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Pectus carinatum, Renal fibrosi... |
OMIM:618161 |
Osteoglophonic Dysplasia |
|
Osteopenia, Hypoplastic scapulae, Hypospadias, Camptodactyly of finger, Craniosynostosis, Short n... |
OMIM:166250 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Scol... |
OMIM:616975 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Abnormality of the kidney, High palate, Polycystic kidney dysplasia, Vesicouretera... |
OMIM:606232 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... |
OMIM:250220 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Pectus excavatum, Wide anterior fontanel, Renal cortical cysts, Scoliosis, Vesicoureteral reflux |
OMIM:618548 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Anteriorly placed anus, Renal agenesis, Unilateral renal agenesis, Rectovaginal fistula |
OMIM:608980 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Cleft palate, Renal cyst |
OMIM:614424 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Scoliosis, Reduced bone minera... |
ORPHA:1556 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal renal m... |
ORPHA:83 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Cleft palate, Renal cyst |
OMIM:611561 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Rectal prolapse, Abnormal form of the vertebral bodies, Abnormal... |
ORPHA:904 |
Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Short neck, Cryptorchidism, Long penis, Patel... |
ORPHA:3103 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Renal insufficiency, Craniosynostosis, Short neck, Pectus excavatum, Renal cyst, Cl... |
OMIM:613610 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Kyphoscoliosis, Ectopic kidney, Short neck, Wide anterior fontanel, Hi... |
ORPHA:96149 |
Aspartylglucosaminuria |
|
Joint laxity, Aspartylglucosaminuria, Kyphosis, Delayed skeletal maturation, Macroglossia, Platys... |
OMIM:208400 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Hydrocephalus, Renal cyst, High palate, Metopic synostosis, N... |
OMIM:608091 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Malabsorption, Wide anterior fontanel, Cryptorchidism,... |
ORPHA:912 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Mullerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Unilateral renal agenesis |
OMIM:158330 |
Tetrasomy 9P |
|
Joint dislocation, Short neck, High palate, Micropenis, Bifid uvula, Cryptorchidism, Multiple ren... |
ORPHA:3310 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Joint stiffness, Heparan sulfate excretion in urine, Avascular necr... |
ORPHA:581 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Lateral clavicle hook, Pancreatic cysts, Chronic kidney disease... |
OMIM:208500 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hydronephrosis, Polycystic kidney d... |
ORPHA:2237 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Osteomalacia, Testicular neoplasm, Abnormal rib morphology, Bone pa... |
ORPHA:249 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
22Q11.2 Deletion Syndrome |
|
Short neck, Vesicoureteral reflux, Hypospadias, Spina bifida, Cryptorchidism, Abnormal thorax mor... |
ORPHA:567 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... |
ORPHA:3003 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl... |
OMIM:618061 |
Marshall Syndrome |
|
Platyspondyly, Knee osteoarthritis, Bifid uvula, Cleft palate |
OMIM:154780 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, High palate, Broad ribs, Elbow ankylosis, Barrel-sha... |
OMIM:276820 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Limited elbow e... |
OMIM:300106 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Large placenta, Limitation of joint mobility, Bell-shaped thorax, Coa... |
ORPHA:254519 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, De... |
OMIM:607778 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Hypospadias, Wide anterior fontanel, Cryptorchidism, Renal c... |
OMIM:614866 |
C Syndrome |
|
Joint dislocation, Sacral dimple, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Short n... |
ORPHA:1308 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Cleft palate, Aminoaciduria, Polycystic kidney dysplasia, Camptodactyly, Cubitus ... |
OMIM:214110 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle... |
OMIM:600920 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Inte... |
OMIM:249000 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Craniosynostosis, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, ... |
OMIM:613795 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Renal cyst |
OMIM:109130 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Bifid uvula |
OMIM:181270 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Premature ovarian insuffi... |
ORPHA:79474 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Irregular ... |
OMIM:610442 |
Proteus Syndrome |
|
Testicular neoplasm, Joint stiffness, Craniosynostosis, Kyphosis, Enlarged polycystic ovaries, Lo... |
ORPHA:744 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Stickler Syndrome |
|
Joint dislocation, Protrusio acetabuli, Kyphosis, Osteoarthritis, Bone pain, Spinal canal stenosi... |
ORPHA:828 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Cleft palate, ... |
OMIM:612284 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia |
OMIM:614922 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Broad ribs, Platyspondyly, Sclerosis of skull base |
OMIM:619727 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Elbow flexion contra... |
OMIM:608836 |
Branchiooculofacial Syndrome |
|
Hypospadias, Renal agenesis, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Malrotation of ... |
OMIM:113620 |
Monosomy 9P |
|
Hypospadias, Short neck, Cryptorchidism, Limitation of joint mobility, Abnormal rib morphology, C... |
ORPHA:261112 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Rickets, Renal cyst, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
Sponastrime Dysplasia |
|
Joint laxity, Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Avascular necrosis of the capita... |
ORPHA:93357 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Patellar aplasia, Knee flexion con... |
ORPHA:85201 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Cleft palate |
OMIM:607361 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Aplastic clavicle, Renal hy... |
ORPHA:2538 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Anal stenosis, Cryptor... |
OMIM:606170 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys... |
OMIM:220500 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsal synostosis, Renal... |
ORPHA:2473 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Bone pain, Nephrolithiasis, Renal cyst, Hypercal... |
ORPHA:18 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Von Hippel-Lindau Disease |
|
Back pain, Elevated urinary catecholamine level, Pancreatic cysts, Limb pain, Renal cell carcinom... |
ORPHA:892 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Elbow contracture, Camptodactyly of finger, Short neck, Cryptorchidism, High, na... |
OMIM:208150 |
Peters Plus Syndrome |
|
Ureteral duplication, Sacral dimple, Multicystic kidney dysplasia, Hypospadias, Intestinal fistul... |
ORPHA:709 |
Peutz-Jeghers Syndrome |
|
Intestinal obstruction, Esophageal neoplasm, Enlarged polycystic ovaries, Rectal prolapse, Abnorm... |
ORPHA:2869 |
Ogden Syndrome |
|
Global glomerulosclerosis, Prominent metopic ridge, Congenital hip dislocation, Delayed cranial s... |
OMIM:300855 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Renal cyst, Anteriorly placed anus |
ORPHA:495875 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Delayed cranial suture closure, Pectus excavatum, Delayed skeletal maturation, Renal ... |
OMIM:261515 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate |
OMIM:618829 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Aqueductal stenos... |
ORPHA:138 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Renal hy... |
ORPHA:991 |
Proboscis Lateralis |
|
Unilateral renal agenesis, Ureteral agenesis, Duplication of renal pelvis, High palate, Holoprose... |
ORPHA:141099 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Joubert Syndrome 1 |
|
Protruding tongue, Renal cyst, Occipital myelomeningocele, Macroglossia, Nephropathy |
OMIM:213300 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Renal cyst, Bell-shaped thorax, Short ribs, Hyperechogeni... |
OMIM:615636 |
Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper urinary tract, Spina bifida, Cryptorchidism, De... |
ORPHA:3380 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Bone pain, Nephrolithias... |
ORPHA:99880 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Ureteral duplication, Aplasia/Hypoplasia of the clavicles, H... |
ORPHA:1662 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Bone pain, Nephrolithias... |
ORPHA:143 |
Congenital Disorder Of Glycosylation, Type If |
|
Wide anterior fontanel, Flexion contracture, Renal cortical cysts |
OMIM:609180 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t... |
ORPHA:2273 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Intestinal m... |
ORPHA:199 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intestinal pseudo-obstruction |
ORPHA:73246 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Missing ribs, Cryptorchidism, Hydrocephalus, Abnormal rib morphology |
ORPHA:1647 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Craniosynostosis, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Renal cortico... |
OMIM:243910 |
Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal renal morphology, Abn... |
ORPHA:1666 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Charge Syndrome |
|
Anal stenosis, Renal agenesis, Hypogonadotropic hypogonadism, Down-sloping shoulders, Cryptorchid... |
OMIM:214800 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Fontaine Progeroid Syndrome |
|
Craniosynostosis, Protruding tongue, Wide anterior fontanel, Cryptorchidism, Delayed skeletal mat... |
OMIM:612289 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis... |
ORPHA:157 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Renal cyst |
OMIM:614862 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Hydrocephalus, Red-brown urine, ... |
ORPHA:228308 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Sotos Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, Flexion contracture, Vesicoureteral reflux... |
ORPHA:821 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ... |
OMIM:618733 |
Branchio-Oculo-Facial Syndrome |
|
High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Down-sloping shoulders, Renal cyst |
OMIM:615560 |
Transketolase Deficiency |
|
Secondary amenorrhea, Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Cleft palate... |
OMIM:311200 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Occipital encephalocele, Multicystic kidney dysplasia, Decreased testicular siz... |
OMIM:615287 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Prominent metopic ridge, Accelerated skeletal maturation, Wide anterior fon... |
ORPHA:116 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Cryptorchidism, Megacystis, Um... |
ORPHA:2241 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Ankle flexion contracture, Short neck, Craniosynostosis, Cryptorchidism, Hydrocephal... |
OMIM:268300 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E... |
ORPHA:2554 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synostosis, Hamartoma of t... |
ORPHA:2750 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tong... |
ORPHA:564 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Anal stenosis, Re... |
OMIM:107480 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Osteolysis, Cleft palate, Colon cancer, Holop... |
ORPHA:1052 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carinatum, Vesicoureteral re... |
ORPHA:2152 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst |
OMIM:617100 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Short neck, Flexion contracture, Renal cyst, Anteriorly placed anus, ... |
OMIM:601803 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Intestinal malrotation, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kid... |
OMIM:208540 |
Mpdu1-Cdg |
|
Wide anterior fontanel, Renal cortical cysts |
ORPHA:79323 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carinatum, Vesicoureteral re... |
ORPHA:261537 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... |
ORPHA:49 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Epiphyseal stippling |
OMIM:601539 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Congenital hip dislocation, Aganglionic megacolon, Cryptorchidism, Rectovaginal fist... |
OMIM:236700 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Generalized joint laxity, Hip dislocat... |
ORPHA:1596 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the urethra, Abnormal rib ... |
ORPHA:2907 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Cleft hard palate, Flexion contracture, Pectus carinatum, Vesicoureteral re... |
ORPHA:261552 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Proteinuria, Hypogonadotropic hypogonadism... |
ORPHA:79318 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Hydrocephalus, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia |
OMIM:615989 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Camptodactyly of finger, Phimosis, Esophageal stricture, Flexion contracture,... |
ORPHA:2908 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Steatorrhea, Glycosuria, Median cle... |
ORPHA:699 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Esophageal varix, Olig... |
ORPHA:731 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Renal hypoplasia, Colitis, Polycystic kidney dysplasia |
ORPHA:84064 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Beckwith-Wiedemann Syndrome |
|
Prominent metopic ridge, Accelerated skeletal maturation, Cryptorchidism, Nephrolithiasis, Renal ... |
OMIM:130650 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hydrocephalus, Hematuria, Multiple renal cysts, Renal ang... |
ORPHA:538 |
Caroli Disease |
|
Esophageal varix, Polycystic kidney dysplasia |
ORPHA:53035 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Hydrocephalus, Bone pain, Abnormal rib morphology, Reduced... |
ORPHA:667 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Caroli Syndrome |
|
Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |