| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... |
ORPHA:2064 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Dwarfism With Tall Vertebrae |
|
Increased vertebral height |
OMIM:126950 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... |
OMIM:118610 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... |
ORPHA:66637 |
| Poland Syndrome |
|
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs |
OMIM:173800 |
| Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Radioulnar synostosis, Delayed skeletal maturation, Scoliosis, Abnormal... |
ORPHA:3268 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... |
OMIM:613686 |
| Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
| Brachyolmia, Maroteaux Type |
|
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Short thorax |
OMIM:618845 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... |
ORPHA:163665 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Hypoplasia of the odontoid process, Hyperconvex vertebral body endplates, Ovoid verte... |
OMIM:184255 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Pect... |
ORPHA:64755 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly, Severe short stature |
OMIM:216330 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Joint hyperflexibi... |
ORPHA:40 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... |
OMIM:604864 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Short thorax, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
| Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... |
ORPHA:2777 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib segmentation ... |
ORPHA:2311 |
| Femoral-Facial Syndrome |
|
Microtia, Renal hypoplasia/aplasia, Vertebral segmentation defect, Polycystic kidney dysplasia, L... |
ORPHA:1988 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Narrow chest, Accelerated skeletal maturation, Abnormal rib morphology, Abnormal form o... |
ORPHA:1354 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... |
OMIM:184400 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil... |
ORPHA:1801 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Sclerotic vertebral bo... |
ORPHA:2790 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... |
OMIM:271520 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... |
OMIM:609223 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Lumbar scoliosis |
OMIM:108450 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
| Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint |
ORPHA:1570 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Platyspondyly |
OMIM:269630 |
| Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput |
ORPHA:1665 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short neck, Abnormal vertebral morphology |
ORPHA:2015 |
| Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Limitation of joint mobility, Platyspondyly |
ORPHA:168555 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies, Joint stiffness, ... |
ORPHA:1149 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Multiple pterygia, Elbow flexion con... |
OMIM:178110 |
| Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... |
OMIM:113000 |
| Verheij Syndrome |
|
Vertebral fusion, Hip dislocation, Short neck, Scoliosis, Hemivertebrae |
OMIM:615583 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Short neck, Abnormal clavicl... |
ORPHA:2522 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology |
OMIM:618709 |
| Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Pectus excavatum, Multi... |
OMIM:259440 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Scoliosis, Pectus carinatum, Lumb... |
ORPHA:313892 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... |
ORPHA:1836 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosis, Spren... |
ORPHA:1394 |
| Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Abnormal thorax morphology, Synostosis of carpal bones, Spina bifida occu... |
OMIM:102510 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Long thorax, A... |
ORPHA:2635 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Irregular vertebral endplates, Knee pain, Schmorl's node, Osteoarthritis... |
OMIM:614135 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Decreased skull ossification, Short neck, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3319 |
| Craniosynostosis 6 |
|
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin... |
OMIM:616602 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Patellar dislocation, Elbow ankylosis, Abnormal vertebral morphology, Kyphoscoliosis, Short neck,... |
ORPHA:96183 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Sacral dimple, Macrotia, Hypospadias, Short neck, Abnormality of the ureter, Low-set, posteriorly... |
ORPHA:2487 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
| Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
| Dysspondyloenchondromatosis |
|
Genu valgum, Joint dislocation, Generalized joint laxity, Vertebral segmentation defect, Anisospo... |
ORPHA:85198 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Ventricular septal defect, Short stature, Atrial septal defect, Frontal bossing |
OMIM:618330 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck |
ORPHA:2578 |
| Gómez-López-Hernández Syndrome |
|
Brachycephaly, Turricephaly, Short stature, Hydrocephalus, Midface retrusion |
ORPHA:1532 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Osteoporotic tarsals, Enlargement of the costochondral junction, Flat acetabular roof, Ovoid vert... |
OMIM:609052 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Abnormal vertebral morphology, Pectus excavatum, Enlarged joints, Delayed epiphyseal... |
ORPHA:166024 |
| Kleefstra Syndrome 2 |
|
Midface retrusion, Plagiocephaly, Growth delay |
OMIM:617768 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis |
OMIM:614688 |
| Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... |
ORPHA:2332 |
| Pentasomy X |
|
Delayed puberty, Plagiocephaly, Short stature, Abnormal cardiac septum morphology |
ORPHA:11 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Brachycephaly, Plagiocephaly, Dolichocephaly, Dilated cardiomyopathy, Intrauterine growth retarda... |
ORPHA:272 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Conductive hearing impairment, Butterfly vertebrae, Cholesteatoma, Sho... |
OMIM:611209 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P... |
OMIM:615220 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Irregular chondrocostal junct... |
OMIM:187760 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Conductive hearing impairment, Sensorineural hearing impairment, Multicy... |
ORPHA:261197 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly |
ORPHA:459074 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scoliosis |
OMIM:606612 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Hypoplastic vertebral bodies, Elbow dislocation... |
ORPHA:2916 |
| Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... |
OMIM:259450 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemivertebrae, Abnorma... |
ORPHA:2234 |
| Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Spina bifida occulta, Spondylolisthesis, Osteoarthritis |
OMIM:184300 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Occipital encephalocele, Craniosynostosis |
OMIM:614416 |
| Gorlin Syndrome |
|
Scoliosis, Vertebral fusion, Hemivertebrae, Vertebral wedging |
ORPHA:377 |
| Spinal Dysplasia, Anhalt Type |
|
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Spinal dysplasia, Thor... |
OMIM:601344 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Osteogenesis Imperfecta, Type Vi |
|
Protrusio acetabuli, Biconcave vertebral bodies, Increased susceptibility to fractures, Joint lax... |
OMIM:613982 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplasia, Short neck, Cervical C2/C3 ve... |
OMIM:616549 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Knee pain, Avascular necrosis of the capital femoral epiphysis, Ar... |
OMIM:184100 |
| Kniest Dysplasia |
|
Bell-shaped thorax, Short thorax, Delayed epiphyseal ossification, Arthropathy, Anterior vertebra... |
ORPHA:485 |
| Metatropic Dysplasia |
|
Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu... |
OMIM:156530 |
| Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Brachycephaly, Ventricular septal defect, Brachyturricephaly, Short sta... |
OMIM:218350 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... |
ORPHA:93315 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral... |
OMIM:618395 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Narrow chest, Abnormal pelvis bone ossification, Decreased skull ossi... |
ORPHA:1426 |
| Cebalid Syndrome |
|
Brachycephaly, Plagiocephaly, Turricephaly, Midface retrusion, Dolichocephaly, Platystencephaly |
OMIM:618774 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Plagiocephaly, Short stature, Bicuspid aortic valve, Midface retrusion, Dolichocep... |
OMIM:619721 |
| Mosaic Trisomy 14 |
|
High palate, Ectopic anus, Microtia, Narrow chest, Hypoplasia of penis, Hypospadias, Short neck, ... |
ORPHA:1703 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Sensorineural hearing impairment, Vertebral hypoplasia, Esophageal atresia, Sup... |
OMIM:206900 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Capitate-hamate fusio... |
OMIM:271650 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Bell-shaped thorax, Genu valgum, Vertebral wedging, Kyphoscoliosis, Pectus carinatum |
OMIM:255710 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Morphological abnormality of the gastrointestinal tract, Hearing abnormality, Conductive hearing ... |
ORPHA:2990 |
| Spondylometaphyseal Dysplasia, Axial |
|
Thoracic hypoplasia, Anterior rib cupping, Scoliosis, Platyspondyly, Narrow chest |
OMIM:602271 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Ventricular septal defect |
ORPHA:94066 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Spinal rigidity, Abnormal vertebral morphology, Synostos... |
ORPHA:337 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility... |
ORPHA:93351 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Craniosynostosis, Thickened calvaria |
ORPHA:178377 |
| Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Fused cervical vertebrae, Scoliosis |
ORPHA:530983 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis |
OMIM:612247 |
| Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ... |
OMIM:203500 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Midface retrusion, Plagiocephaly, Unilambdoid synostosis |
OMIM:618577 |
| Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed s... |
OMIM:148050 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Increased susceptibility to fractures, Radioulnar dislocation, Abnormality of the elbow, Elbow fl... |
ORPHA:93359 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing |
OMIM:619264 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, Growth delay, Short stature |
ORPHA:2528 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Limitation of joint mobility, Short neck, Abnormal... |
ORPHA:1486 |
| Lessel-Kreienkamp Syndrome |
|
Patent foramen ovale, Scaphocephaly, Plagiocephaly, Bicuspid aortic valve, Atrial septal defect, ... |
OMIM:619149 |
| Fetal Trimethadione Syndrome |
|
Brachycephaly, Ventricular septal defect, Midface retrusion, Atrial septal defect, Tetralogy of F... |
ORPHA:1913 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Scaphocephaly, Plagiocephaly, Abnormal heart morphology |
ORPHA:1143 |
| Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossification in... |
OMIM:135100 |
| Pallister-Hall Syndrome |
|
Hydronephrosis, Precocious puberty, Microtia, Renal dysplasia, Hydroureter, Decreased testicular ... |
OMIM:146510 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly, Postnatal growth retardation |
OMIM:309545 |
| Ritscher-Schinzel Syndrome 1 |
|
Brachycephaly, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Hydro... |
OMIM:220210 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Pectus excavatum, Abnormal vertebral ... |
ORPHA:915 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, Plagiocephaly, Dolichocephaly |
OMIM:615433 |
| Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Flat occiput |
ORPHA:46 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Osteopenia, Joint swelling, Flaring of rib c... |
OMIM:612852 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Narrow ches... |
OMIM:213980 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Short stature, Decreased calvarial ossification, Trigonocephaly, Craniosynostosis |
OMIM:618265 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca... |
OMIM:171480 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly |
ORPHA:521390 |
| Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... |
ORPHA:50 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... |
OMIM:609616 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Posterior plagiocephaly, Secundum atrial septal defect, Rhizomelic arm shortening |
ORPHA:96190 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Decreased skull ossification, Platyspondy... |
ORPHA:93267 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Prominent occiput, Dolichocephaly |
OMIM:618672 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Intrauterine growth retardation,... |
OMIM:617751 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Brachycephaly, Patent foramen ovale, Plagiocephaly, Ventricular septal defect, Short stature, Mid... |
ORPHA:369891 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Coat hanger sign o... |
OMIM:305620 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Plagiocephaly, Rhizomelia |
OMIM:618821 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert... |
OMIM:272460 |
| Caudal Regression Syndrome |
|
Missing ribs, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis... |
ORPHA:3027 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Brachycephaly, Patent foramen ovale, Plagiocephaly, Frontal bossing, Transposition of the great a... |
OMIM:616789 |
| Peutz-Jeghers Syndrome |
|
Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, Renal cel... |
ORPHA:2869 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Renal dysplasia, Anal atresia, Cervical ribs, Hypertrophy of the urinary... |
OMIM:601389 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Plagiocephaly |
OMIM:607313 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Short stature |
OMIM:300699 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2180 |
| Non-Distal Trisomy 10Q |
|
Brachycephaly, Short stature, Frontal bossing |
ORPHA:1695 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Thoracic hypoplasia, Short ribs, Cupped ribs, Platyspondyly |
OMIM:614524 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent foramen ovale, Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Abnormal h... |
ORPHA:500159 |
| Band Heterotopia |
|
Plagiocephaly |
OMIM:600348 |
| Cog1-Cdg |
|
Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Kyphoscoliosis, Short n... |
ORPHA:263508 |
| Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... |
OMIM:304050 |
| Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Plagiocephaly, Atrial septal defect, Frontal bossing, Muscular ventricular septal defect, Umbilic... |
OMIM:618354 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Plagiocephaly, Atrial septal defect, Frontal bossing |
OMIM:617808 |
| Muenke Syndrome |
|
Brachycephaly, Midface retrusion, Plagiocephaly, Coronal craniosynostosis |
OMIM:602849 |
| Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly |
ORPHA:3210 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Generalized joint laxity, Facet joint arthrosis, Hip dislocation, Joint hyp... |
OMIM:618000 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Plagiocephaly, Intrauterine growth retardation, Frontal bossing |
OMIM:616801 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Bicornuate uterus, Renal agenesis, Azoospermia, Unilateral renal a... |
OMIM:601076 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebral morphology, Radioulnar syn... |
ORPHA:2319 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Thanatophoric Dysplasia, Type Ii |
|
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Small abnormally fo... |
OMIM:187601 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Joint hyperflexibility, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... |
ORPHA:2759 |
| Axial Spondylometaphyseal Dysplasia |
|
Flared, irregular rib ends, Thoracic hypoplasia, Short ribs, Posterior wedging of vertebral bodie... |
ORPHA:168549 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Elbow dislo... |
ORPHA:628 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Vertebral compression fracture, Osteoporosis, Bone pain |
ORPHA:85193 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Pectus excavatum, Joint hypermobility, Six lumbar vertebrae, Scapular winging |
OMIM:619122 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Brachycephaly, Short stature |
ORPHA:1514 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... |
ORPHA:1724 |
| Cornelia De Lange Syndrome 2 |
|
Brachycephaly, Short stature, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Postn... |
OMIM:300590 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly, Short stature, Intrauterine growth retardation, Umbilical hernia |
OMIM:615834 |
| Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Vertebral fusion, Abnormal sternum morphology, Short ribs, Vertebral wedging, Supernu... |
OMIM:109400 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Pr... |
OMIM:268310 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Brachycephaly, Secundum atrial septal defect, Transposition of the great arteries, Plagiocephaly |
OMIM:619910 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Anal atresia, Abnormal localization of kidney, Abnormal rib morphology,... |
ORPHA:195 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Situs inversus totalis |
OMIM:615985 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Plagiocephaly |
OMIM:618603 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Growth delay |
OMIM:308350 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Butterfly vertebrae, Pectus excavatum, Spina bifida occulta, Sprengel a... |
OMIM:619227 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Limitation of joint mobility, Enlarged interphalangeal joints, Interphalangeal joint contracture ... |
OMIM:151200 |
| Ganglioneuroma |
|
Colorectal polyposis, Abnormal prostate morphology, Multiple intestinal neurofibromatosis, Gastro... |
ORPHA:251992 |
| Aminopterin Syndrome Sine Aminopterin |
|
Brachycephaly, Short stature, Frontal bossing, Intrauterine growth retardation, Umbilical hernia |
OMIM:600325 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Spina bifida occulta, Flat occiput, Bicoronal synostosis, Lambdoidal craniosynostosis |
OMIM:618736 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly |
OMIM:619927 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Round ear, Hydronephrosis |
ORPHA:1450 |
| 6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Short stature |
ORPHA:251056 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:236410 |
| Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Plagiocephaly |
ORPHA:544469 |
| Craniofrontonasal Dysplasia |
|
Brachycephaly, Plagiocephaly, Craniosynostosis, Frontal bossing |
ORPHA:1520 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Midface retrusion, Plagiocephaly |
OMIM:618731 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Limited elbow movement, Humeroradial synostosis, Missing ribs, Radioulnar... |
OMIM:134780 |
| Vacterl/Vater Association |
|
Anorectal anomaly, Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal morphology of fema... |
ORPHA:887 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Genu varum, Back pain, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93311 |
| Larsen Syndrome |
|
Vertebral fusion, Spondylolysis, Accessory carpal bones, Cervical kyphosis, Hip dislocation, Join... |
OMIM:150250 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Plagiocephaly |
OMIM:614563 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Lateral clavicle hook, Acetabular spurs, Narrow chest, Trident aceta... |
OMIM:617405 |
| White Forelock With Malformations |
|
Spina bifida occulta, Sprengel anomaly, Delayed skeletal maturation, Joint hyperflexibility, Abno... |
ORPHA:2475 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Brachycephaly, Ventricular septal defect... |
OMIM:179613 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Brachycephaly, Turricephaly, Hydrocephalus, Craniosynostosis, Umbilical... |
ORPHA:171839 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Multicystic kidney dysplasia, Bifid tongue, Ectopic anus, Kyphosis, Ankyloglossia,... |
ORPHA:1507 |
| Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly |
OMIM:618008 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Brachycephaly, Plagiocephaly, Short stature |
OMIM:618862 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, Scoliosis, ... |
OMIM:184250 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Flat acetabular roof, Pectus excavatum, Platyspondyly, Posterior rib cupping... |
OMIM:608728 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Joint dislocation, Short thorax, Kyphosis, Spinal canal stenosis, Sho... |
ORPHA:582 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Vertebral fusion, Kyphosis, Joint hypermobility, Pectus excavatum, Sh... |
OMIM:130720 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Scoliosis, Abnormal vertebral morphology |
ORPHA:64754 |
| German Syndrome |
|
Brachycephaly, Abnormal cardiac septum morphology, Short stature, Dolichocephaly, Midface retrusi... |
ORPHA:2077 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... |
OMIM:259420 |
| Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized o... |
OMIM:617952 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Brachycephaly, Atrioventricular canal defect, Short stature, Dolichocephaly, Flat occiput, Growth... |
OMIM:613792 |
| Trisomy 13 |
|
Abnormal antihelix morphology, Hydronephrosis, Sensorineural hearing impairment, Kyphosis, Abnorm... |
ORPHA:3378 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Abnormality of the urinary system, Kyphosis, Microtia, Abnormality of the kidney, ... |
ORPHA:280 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Fused cervical vertebrae, Hip dislocation, Cervical ribs, Scoli... |
ORPHA:3320 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly |
ORPHA:77300 |
| Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Multiple prenatal fractures, Platys... |
OMIM:166210 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Turricephaly, Short stature, Craniosynostosis, Intrauterine growth retardation |
ORPHA:2145 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Broad clavicles, Spatulate ribs, Scoliosis, Irregular acetabular roof... |
OMIM:619698 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Severe platyspondyly, Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly, Joint stiffness |
OMIM:608940 |
| Penoscrotal Transposition |
|
Patellar aplasia, Shawl scrotum, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Abno... |
ORPHA:2842 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormality of the lower urinary tract, Hearing impairment, Abnormal rectum morpho... |
ORPHA:101009 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Brachycephaly, Ventricular septal defect, Hypoplastic right heart, Atri... |
OMIM:618142 |
| Robinow Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Bifid tongue, External genital hypoplasia, Ankylogl... |
ORPHA:97360 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Sco... |
ORPHA:96169 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Brachycephaly, Plagiocephaly, Short stature, Midface retrusion, Abnormal heart morphology, Umbili... |
ORPHA:261652 |
| Mucopolysaccharidosis, Type Iva |
|
Anterior beaking of lumbar vertebrae, Hyperlordosis, Genu valgum, Large elbow, Kyphosis, Prominen... |
OMIM:253000 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Turricephaly |
OMIM:601224 |
| Hurler-Scheie Syndrome |
|
Spinal canal stenosis, Abnormal vertebral morphology, Limitation of joint mobility |
ORPHA:93476 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Pear-shaped vertebrae, Pla... |
OMIM:602111 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Multiple rib fractures, Joint hypermobility, Osteopenia, Decreased calvarial... |
OMIM:616229 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, ... |
ORPHA:228390 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Butterfly vertebrae, Large earlobe, Megarectum, Hypospadias, Duplicated co... |
OMIM:301056 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Delayed puberty |
ORPHA:52022 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly, Short stature, Spina bifida, Midface retrusion, Intrauterine growth retardation |
ORPHA:1327 |
| 1P36 Deletion Syndrome |
|
Conductive hearing impairment, Abnormality of the anus, Abnormal intestine morphology, Dysphagia,... |
ORPHA:1606 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly |
OMIM:617481 |
| Bresek Syndrome |
|
Growth delay, Plagiocephaly, Intrauterine growth retardation |
ORPHA:85284 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Brachycephaly, Frontal bossing |
OMIM:264470 |
| 8Q12 Microduplication Syndrome |
|
Brachycephaly, Ventricular septal defect, Atrial septal defect |
ORPHA:228399 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Generalized bone demineralization, Genu varum, Thoracic hypoplasia, Squared-off pl... |
ORPHA:93352 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly |
OMIM:615516 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Delayed ossification of carpal bones, Abnormal vertebral morphol... |
ORPHA:93346 |
| Holt-Oram Syndrome |
|
Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavatum, Sprengel anomaly, Abno... |
ORPHA:392 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Brachycephaly, Midface retrusion, Plagiocephaly, Frontal bossing |
OMIM:618430 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Short stature |
OMIM:618089 |
| Schneckenbecken Dysplasia |
|
Advanced ossification of carpal bones, Anterior rib cupping, Thoracic hypoplasia, Short ribs, Nar... |
OMIM:269250 |
| Phaver Syndrome |
|
Camptodactyly of finger, Pterygium, Butterfly vertebrae, Radioulnar synostosis, Abnormal rib morp... |
ORPHA:2876 |
| Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Short neck, Abnormal rib morphology |
ORPHA:93298 |
| Pseudoachondroplasia |
|
Genu varum, Genu valgum, Delayed epiphyseal ossification, Kyphosis, Ulnar deviation of the wrist,... |
OMIM:177170 |
| Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibility, Abnormal rib mor... |
ORPHA:2050 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Macrotia, Sensorineural hearing impairment, Bilateral cryptorchidism, Celiac disea... |
ORPHA:544488 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Hypospadias, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ... |
ORPHA:276422 |
| Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Coronal craniosynostosis |
ORPHA:53271 |
| Caudal Duplication |
|
Uterus didelphys, Renal hypoplasia/aplasia, Vertebral segmentation defect, Abnormal sacrum morpho... |
ORPHA:1756 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... |
ORPHA:1145 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachycephaly, Abnormal mitral valve morphology, Short stature, Biparietal narrowing, Atrial sept... |
ORPHA:1292 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Short ribs, Narrow chest, Hypoplastic scapulae, Shor... |
ORPHA:2021 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachycephaly, Plagiocephaly, Craniosynostosis, Short stature |
ORPHA:2163 |
| Cooper-Jabs Syndrome |
|
Brachycephaly, Ventricular septal defect, Short stature, Frontal bossing, Umbilical hernia |
ORPHA:1488 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Fused cervical vertebrae, Carpal synostosis, Joint laxity, Joint h... |
OMIM:157800 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Short stature |
ORPHA:320385 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Thin ribs, Decreased skull ossification, Platyspondyly |
OMIM:300863 |
| Even-Plus Syndrome |
|
Brachycephaly, Patent foramen ovale, Midface retrusion, Atrial septal defect, Severe short stature |
OMIM:616854 |
| Atelosteogenesis, Type I |
|
11 pairs of ribs, Bell-shaped thorax, Thoracic hypoplasia, Vertebral hypoplasia, Fused cervical v... |
OMIM:108720 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Brachycephaly, Craniosynostosis, Short stature, Frontal bossing |
ORPHA:314575 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Plagiocephaly, Ventricular septal defect, Short stature, Prominent occiput, Atrial septal defect,... |
OMIM:617360 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Brachycephaly, Atrioventricular canal defect, Frontal bossing |
OMIM:617364 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Conductive hearing impairment, Narrow palate, Sensorineural hearing impair... |
OMIM:235510 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly, Short stature |
OMIM:309541 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness |
OMIM:252900 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Short stature |
OMIM:615031 |
| Pseudodiastrophic Dysplasia |
|
Brachycephaly, Rhizomelia, Midface retrusion, Frontal bossing, Severe short stature |
OMIM:264180 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Brachycephaly, Intrauterine growth retardation, Postnatal growth retardation |
OMIM:615419 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, Plagiocephaly, Ventricular septal defect, Bicuspid aortic valve, Midface re... |
ORPHA:457279 |
| Non-Syndromic Anorectal Malformation |
|
Anorectal anomaly, Ectopic anus, Hemisacrum, Persistent cloaca, Anal atresia, Hearing impairment,... |
ORPHA:557 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Plagiocephaly, Atrial septal defect, Growth delay, Anterior plagiocep... |
OMIM:614749 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Ventricular septal defect, Short stature, Atrial septal defect, Growth delay, Cran... |
ORPHA:457193 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Short stature, Frontal bossing |
ORPHA:371364 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behaviors, S... |
ORPHA:352490 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Scapular winging, Pectus carinatum, Cervical C2/C3 vertebral fusion, Lumbar hyp... |
OMIM:617796 |
| Grant Syndrome |
|
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomaly, Joint hyperf... |
ORPHA:2097 |
| Osteogenesis Imperfecta, Type Xx |
|
Brachycephaly, Plagiocephaly, Midface retrusion, Disproportionate short-limb short stature, Intra... |
OMIM:618644 |
| Congenital Myopathy 13 |
|
Brachycephaly, Midface retrusion, Short stature |
OMIM:255995 |
| Dyggve-Melchior-Clausen Disease |
|
Genu valgum, Hypoplastic acetabulae, Short thorax, Pectus carinatum, Horizontal inferior border o... |
ORPHA:239 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Short thorax, Na... |
ORPHA:2484 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the kidney, Hydroureter, Abnormality of the uppe... |
ORPHA:2838 |
| Crouzon Syndrome |
|
Brachycephaly, Turricephaly, Hydrocephalus, Midface retrusion, Frontal bossing, Multiple suture c... |
ORPHA:207 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Joint hypermo... |
OMIM:602196 |
| 3M Syndrome |
|
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... |
ORPHA:2616 |
| Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Growth delay |
OMIM:222748 |
| Robinow-Sorauf Syndrome |
|
Craniosynostosis, Plagiocephaly, Pansynostosis |
OMIM:180750 |
| Achondrogenesis Type 1A |
|
Short thorax, Abnormal enchondral ossification, Recurrent fractures, Multiple rib fractures, Shor... |
ORPHA:93299 |
| 22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Abnormal repetitive mannerisms, Compulsive behaviors, Urethr... |
ORPHA:1727 |
| Pierpont Syndrome |
|
Brachycephaly, Midface retrusion, Short stature |
OMIM:602342 |
| Malan Overgrowth Syndrome |
|
Scaphocephaly, Plagiocephaly, Frontal bossing |
ORPHA:420179 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Decreased cranial base ossification, Flat ... |
OMIM:151210 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, External genital hypoplasia, Anal atresia, Renal cyst, Cryptorchi... |
OMIM:613390 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly, Short stature |
ORPHA:93950 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Stenosis of the external auditory canal, Conductive hearing impairment |
ORPHA:1513 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Brachycephaly, Patent foramen ovale, Mitral valve prolapse, Midface retrusion, Frontal bossing |
OMIM:615539 |
| Faciocardiorenal Syndrome |
|
Plagiocephaly, Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
| 48,Xxyy Syndrome |
|
Gastroesophageal reflux, Decreased testicular size, Hypoplasia of penis, Azoospermia, Abnormal re... |
ORPHA:10 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Plagiocephaly, Bicuspid aortic valve, Midface retrusion, Atrial septal defect, Frontal bossing |
OMIM:619720 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Narrow chest, Nephropathy, Abnormal clavicle morpholog... |
ORPHA:474 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Lumbar hyperlordosis,... |
OMIM:223800 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Camptodactyly, Down-sloping shoulders, Pectus excavatum, Abnormal rib cage morp... |
OMIM:227330 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly, Hypertrophic cardiomyopathy, Abnormal heart morphology |
ORPHA:70472 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Plagiocephaly, Flat occiput, Atrial septal defect |
OMIM:619383 |
| Diphallia |
|
Butterfly vertebrae, Ectopic scrotum, Bifid penis, Abnormal spermatogenesis, Cryptorchidism, Dist... |
ORPHA:227 |
| Zttk Syndrome |
|
High palate, Kyphosis, Bifid uvula, Submucous cleft hard palate, Unilateral renal agenesis, Cervi... |
OMIM:617140 |
| Foxg1 Syndrome |
|
Gastroesophageal reflux, Stereotypical hand wringing, Abnormal repetitive mannerisms, Kyphoscolio... |
ORPHA:561854 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... |
OMIM:252930 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Brachycephaly, Abnormal cardiac septum morphology, Frontal bossing |
OMIM:608776 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Plagiocephaly, Intrauterine growth retardation, Short stature |
OMIM:619833 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... |
ORPHA:3082 |
| Solitary Rectal Ulcer Syndrome |
|
Stercoral ulcer, Anal fissure, Hematochezia, Compulsive behaviors, Rectal prolapse |
ORPHA:209964 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Gastroesophageal reflux, Vertebral fusion, Conductive hearing impairment, Sensorin... |
OMIM:194190 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Synostosis of carpal bones... |
ORPHA:90652 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Fused cervical vertebrae, Flat acetabular roof, Wormian bones |
OMIM:617159 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Thoracic dysplasia, Lateral clavicle hook, Cryptorchidism, N... |
OMIM:615633 |
| Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wide cranial sutures, ... |
OMIM:616294 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Scaphocephaly, Short stature, Hydrocephalus, Atrial sep... |
ORPHA:459061 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Scoliosis, Osteoporosis |
OMIM:617190 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Back pain, Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstructio... |
OMIM:143400 |
| Craniosynostosis 2 |
|
Brachycephaly, Turricephaly, Frontal bossing, Unicoronal synostosis, Trigonocephaly, Bicoronal sy... |
OMIM:604757 |
| Renpenning Syndrome |
|
Macrotia, Round ear, Sensorineural hearing impairment, Decreased testicular size, Anal atresia, P... |
ORPHA:3242 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Brachycephaly, Ventricular septal defect, Hydroce... |
OMIM:612582 |
| Galloway-Mowat Syndrome 4 |
|
Plagiocephaly, Short stature |
OMIM:617730 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly |
OMIM:618859 |
| Anauxetic Dysplasia 3 |
|
Midface retrusion, Plagiocephaly, Severe short stature |
OMIM:618853 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Plagiocephaly, Frontal bossing |
OMIM:619293 |
| Carpenter Syndrome 1 |
|
Patent ductus arteriosus, Brachycephaly, Sagittal craniosynostosis, Ventricular septal defect, Sh... |
OMIM:201000 |
| Intellectual Disability-Strabismus Syndrome |
|
Short stature, Plagiocephaly, Intrauterine growth retardation, Atrial septal defect |
ORPHA:363528 |
| Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Short neck, Ovoid vertebral bodies, Joint stiffness, Broad ribs |
ORPHA:583 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Esophageal atresia, Bicornuate uterus, Hydroureter, Butterf... |
OMIM:265380 |
| Chromosome 2Q37 Deletion Syndrome |
|
Subvalvular aortic stenosis, Brachycephaly, Midface retrusion, Short stature |
OMIM:600430 |
| Cenani-Lenz Syndrome |
|
Synostosis of carpal bones, Hip dislocation, Radioulnar synostosis, Synostosis of joints, Elbow d... |
ORPHA:3258 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, Midface retrusion, Short stature |
ORPHA:1387 |
| Postaxial Acrofacial Dysostosis |
|
Midgut malrotation, Supernumerary vertebrae, Conductive hearing impairment, Abnormality of the ki... |
OMIM:263750 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Hydrocephalus, Turricephaly, Frontal bossing |
ORPHA:93262 |
| Urban-Rogers-Meyer Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Kyphosis, Hypogonadism, Hypoplasia of penis, Abnormality of t... |
ORPHA:3409 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Plagiocephaly, Umbilical hernia |
OMIM:616579 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
| Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
| Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, Plagiocephaly, Short stature |
OMIM:619435 |
| Mosaic Trisomy 8 |
|
Abnormal antihelix morphology, Vesicoureteral reflux, Macrotia, High palate, Patellar aplasia, De... |
ORPHA:96061 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/... |
ORPHA:268882 |
| Fg Syndrome Type 1 |
|
Plagiocephaly, Short stature, Mitral valve prolapse, Prominent occiput, Atrial septal defect, Cra... |
ORPHA:93932 |
| Duplication Of Urethra |
|
Urethral stricture, Hypertrophy of the urinary bladder, Septate vagina, Uterus didelphys, Vesicou... |
ORPHA:237 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling of toe phalanges, Vertebral hypoplasia, Stippling of the epiphyses of the di... |
ORPHA:79345 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Brachycephaly, Ventricular septal defect, Short stature, Atrial septal defect, Flat occiput, Intr... |
OMIM:617452 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Vertebral segmentation defect |
ORPHA:3004 |
| Frontonasal Dysplasia 2 |
|
Brachycephaly, Parietal foramina, Encephalocele, Calvarial skull defect, Craniosynostosis, Intrau... |
OMIM:613451 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Hip dislocation, Joint hypermobility, Pectus excavatum... |
OMIM:610443 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Brachycephaly, Short stature |
OMIM:608027 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Narrow chest, ... |
OMIM:200600 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Esophageal atresia, Hypoplasia of penis, Abnormal vertebral morphology, Tracheo... |
ORPHA:77298 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Anterior plagiocephaly, Frontal bossing |
ORPHA:163649 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae |
ORPHA:3035 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Brachycephaly, Ventricular septal defect, Frontal bossing, Growth delay, Tetralogy of Fallot |
ORPHA:3306 |
| Oeis Complex |
|
Vesicovaginal fistula, Ambiguous genitalia, female, Bifid uterus, Absent scrotum, Pelvic kidney, ... |
OMIM:258040 |
| Laurence-Moon Syndrome |
|
Brachycephaly, Short stature |
ORPHA:2377 |
| Osteogenesis Imperfecta, Type Viii |
|
Recurrent fractures, Kyphosis, Joint laxity, Barrel-shaped chest, Multiple prenatal fractures, Sc... |
OMIM:610915 |
| Dubowitz Syndrome |
|
Sacral dimple, Abnormal antihelix morphology, Abnormality of female external genitalia, High pala... |
ORPHA:235 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Penile hypospadias, High palate, Bifid scrotum, Penoscrotal hypospadias, Blind vagina, Cryptorchi... |
ORPHA:456328 |
| Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly |
OMIM:620149 |
| Thakker-Donnai Syndrome |
|
Hemivertebrae, Short neck, Cervical C2/C3 vertebral fusion |
ORPHA:1780 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Brachycephaly, Frontal bossing, Spina bifida occulta, Facial hyperostosis, Severe short stature, ... |
ORPHA:2780 |
| Pierpont Syndrome |
|
Brachycephaly |
ORPHA:487825 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Sensorineural hearing impairment, Aganglionic megacolon, Anteriorly placed anus, Posteriorly rota... |
OMIM:239300 |
| Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Skull asymmetry, Turricephaly, Short stature, Midface retrusion, Craniosynostosis |
OMIM:601853 |
| Acrocapitofemoral Dysplasia |
|
Genu varum, Short ribs, Delayed ossification of carpal bones, Pectus excavatum, Cupped ribs, Ovoi... |
OMIM:607778 |
| Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:276950 |
| Holzgreve Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Joint stiffness |
ORPHA:2167 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, High palate, Narrow palate, Abnormal sacral segmentation, Bicornuate uterus, ... |
OMIM:200980 |
| Noonan Syndrome 13 |
|
Mitral valve prolapse, Plagiocephaly, Atrial septal defect |
OMIM:619087 |
| Dysosteosclerosis |
|
Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,... |
OMIM:224300 |
| Fragile X Syndrome |
|
Congenital macroorchidism, Macrotia, Recurrent hand flapping, Pectus excavatum, Macroorchidism, p... |
OMIM:300624 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Plagiocephaly, Branchial anomaly, Ventricular septal defect, Bicus... |
ORPHA:453499 |
| Osteogenesis Imperfecta, Type X |
|
Genu valgum, Thoracic hypoplasia, Generalized joint laxity, Narrow chest, Multiple rib fractures,... |
OMIM:613848 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Plagiocephaly |
OMIM:616362 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Brachycephaly, Short stature, Frontal bossing, Intrauterine growth retardation, Umbilical hernia |
OMIM:219150 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Limitation of joint mobility, Delayed skeletal maturation, Abnormal rib morphology... |
ORPHA:3068 |
| Al Kaissi Syndrome |
|
Brachycephaly, Short stature, Atrial septal defect, Intrauterine growth retardation, Postnatal gr... |
OMIM:617694 |
| Frontofacionasal Dysplasia |
|
Brachycephaly, Midface retrusion, Encephalocele, Short stature |
ORPHA:1791 |
| Chopra-Amiel-Gordon Syndrome |
|
Brachycephaly, Short stature, Midface retrusion, Postnatal growth retardation |
OMIM:619504 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:1046 |
| Mucopolysaccharidosis, Type Ivb |
|
Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, Ulnar deviation of the wrist, Hypoplasia... |
OMIM:253010 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1120 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly, Growth delay |
OMIM:619188 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Anterior rib cupping, Prominent sternum, Thoracic kyphosis, Hypoplasia of th... |
OMIM:300232 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Midface retrusion, Abnormal heart morphology, Short stature |
OMIM:182290 |
| Clark-Baraitser Syndrome |
|
Brachycephaly, Dolichocephaly |
OMIM:617752 |
| Baller-Gerold Syndrome |
|
Sagittal craniosynostosis, Patellar hypoplasia, Limited elbow movement, Patellar aplasia, Cranios... |
OMIM:218600 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Brachycephaly, Short stature |
OMIM:268850 |
| Trisomy 20P |
|
Brachycephaly, Plagiocephaly, Spina bifida, Dolichocephaly, Frontal bossing, Umbilical hernia |
ORPHA:261318 |
| Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Kyphosis, Butterfly vertebrae, Hip dislocation, Short neck, Abnormal clavicle m... |
ORPHA:958 |
| Noonan Syndrome With Multiple Lentigines |
|
Brachycephaly, Atrioventricular canal defect, Abnormal mitral valve morphology, Short stature, Pu... |
ORPHA:500 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Brachycephaly, Ventricular septal defect, Short stature, Atrial septal defect, Flat occiput, Intr... |
ORPHA:505237 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Severe short stature, Flat occiput |
ORPHA:2511 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly |
OMIM:619972 |
| Fibrochondrogenesis 1 |
|
Anterior rib cupping, Thoracic hypoplasia, Joint contracture of the hand, Short ribs, Thin clavic... |
OMIM:228520 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Limited elbow movement, Joint contracture of ... |
ORPHA:1826 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Hypoplastic vertebral bodies, Short neck, Scoliosis, Beaking of vertebr... |
OMIM:230500 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Conductive hearing impairment, Abnormality of the anus, Bifid uvula, Dysphagia, Hearing impairmen... |
OMIM:607872 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Dysplastic pulmonary valve |
OMIM:300958 |
| Alagille Syndrome |
|
Nephrotic syndrome, Butterfly vertebral arch, Vertebral segmentation defect, Renal hypoplasia/apl... |
ORPHA:52 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, M... |
OMIM:616897 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Rectal fistula, Low-set ears, Volvulus, Renal agenesis, Anal atresia, Inte... |
OMIM:115470 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Brachycephaly, Plagiocephaly, Frontal bossing |
OMIM:617296 |
| Three M Syndrome 2 |
|
Hyperlordosis, Short thorax, Lumbar hyperlordosis, Short neck, Delayed skeletal maturation, Scapu... |
OMIM:612921 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Brachycephaly, Plagiocephaly, Ventricular septal defect, Short stature, Bicuspid aortic valve, At... |
OMIM:610759 |
| Christianson Syndrome |
|
Gastroesophageal reflux, Macrotia, Abnormal thorax morphology, Abnormal repetitive mannerisms, Pe... |
ORPHA:85278 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Brachycephaly, Short stature, Coronal craniosynostosis, Umbilical hernia |
ORPHA:2095 |
| Cornelia De Lange Syndrome 5 |
|
Brachycephaly, Short stature, Postnatal growth retardation |
OMIM:300882 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Vertebral arch anomaly, Increased bone mineral density, Osteopenia, Broad ribs, Wormian bones |
ORPHA:85184 |
| Diabetic Embryopathy |
|
Hydronephrosis, Abnormal morphology of female internal genitalia, Microtia, Renal hypoplasia/apla... |
ORPHA:1926 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Brachyturricephaly, Hypertrophic cardiomyopathy, Cardiomyopathy |
OMIM:300280 |
| Peutz-Jeghers Syndrome |
|
Intussusception, Gastrointestinal carcinoma, Multiple gastric polyps, Uterine neoplasm, Abnormali... |
OMIM:175200 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Brachycephaly |
ORPHA:352530 |
| Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Brachycephaly, Hydrocephalus, Short stature |
OMIM:609757 |
| Prune Belly Syndrome |
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Congenital posterior urethral valve, Hydroureter, Anal atresia, Pectus excavatum, Xerostomia, Cry... |
OMIM:100100 |
| Desanto-Shinawi Syndrome |
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Brachycephaly, Midface retrusion |
OMIM:616708 |
| Alkuraya-Kucinskas Syndrome |
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Pericardial effusion, Plagiocephaly |
OMIM:617822 |
| Achondrogenesis, Type Ii |
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Horizontal ribs, Absent vertebral body mineralization, Barrel-shaped chest, Short ribs |
OMIM:200610 |
| Chromosome 15Q11.2 Deletion Syndrome |
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Plagiocephaly, Abnormal heart morphology, Short stature |
OMIM:615656 |
| Familial Osteodysplasia, Anderson Type |
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Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Missing ... |
ORPHA:2769 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Midface retrusion, Plagiocephaly, Severe short stature, Dolichocephaly |
ORPHA:2215 |
| Linear Nevus Sebaceus Syndrome |
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Plagiocephaly, Biparietal narrowing, Prominent occiput, Frontal bossing, Growth delay |
ORPHA:2612 |
| Temtamy Preaxial Brachydactyly Syndrome |
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Plagiocephaly |
OMIM:605282 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
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Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... |
ORPHA:2973 |
| 4Q21 Microdeletion Syndrome |
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Kyphosis, Abnormal repetitive mannerisms, Short neck, Scoliosis, Low-set ears, Hearing impairment |
ORPHA:238750 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
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Brachycephaly, Plagiocephaly, Growth delay, Abnormal parietal bone morphology |
ORPHA:247262 |
| Crouzon Syndrome |
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Brachycephaly, Sagittal craniosynostosis, Coronal craniosynostosis, Hydrocephalus, Midface retrus... |
OMIM:123500 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
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Plagiocephaly, Short stature |
OMIM:618106 |
| Mucolipidosis Iii Alpha/Beta |
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Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... |
OMIM:252600 |
| Smith-Magenis Syndrome |
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Gastroesophageal reflux, Conductive hearing impairment, Precocious puberty, Renal hypoplasia/apla... |
ORPHA:819 |
| Urofacial Syndrome 1 |
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Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr... |
OMIM:236730 |
| Menkes Disease |
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Brachycephaly, Intrauterine growth retardation, Short stature |
OMIM:309400 |
| Lujan-Fryns Syndrome |
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Brachycephaly, Atrial septal defect |
ORPHA:776 |
| Kury-Isidor Syndrome |
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Brachycephaly, Ventricular septal defect, Growth delay, Frontal bossing |
OMIM:619762 |
| Cantú Syndrome |
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Cuboid-shaped vertebral bodies, Accelerated skeletal maturation, Short neck, Ovoid vertebral bodi... |
ORPHA:1517 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Abnormal rib morphology, Joint hyperflexibility, Decreased calvarial ossification, Recurrent frac... |
ORPHA:2772 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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Brachycephaly, Coronal craniosynostosis, Hydrocephalus, Midface retrusion, Atrial septal defect, ... |
OMIM:207410 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Sacral dimple, Urethral atresia, Esophageal atresia, Enlarged kidney, Abnormal vertebral morpholo... |
OMIM:314390 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Hypertrophic cardiomyopathy, Plagiocephaly, Growth delay |
OMIM:615471 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Thin ribs, Platyspondyly |
ORPHA:163966 |
| 2Q32Q33 Microdeletion Syndrome |
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Brachycephaly, Growth delay, Short stature |
ORPHA:251019 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Ethmoidal encephalocele, Brachyturricephaly, Frontal bossing |
OMIM:607597 |
| Achard Syndrome |
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Brachycephaly, Broad skull |
OMIM:100700 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Horizontal ribs, Ambiguous genitalia, Bifid tongue, Thoracic hypoplasia, Renal dysplasia, Short r... |
OMIM:613091 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
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Brachycephaly, Dextrotransposition of the great arteries, Ventricular septal defect, Short stature |
OMIM:619995 |
| Bent Bone Dysplasia Syndrome 2 |
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Short sternum, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Short neck, Osteopenia, D... |
OMIM:620076 |
| Microphthalmia, Lenz Type |
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Hyperlordosis, Kyphosis, Renal hypoplasia/aplasia, Hydroureter, Long thorax, External ear malform... |
ORPHA:568 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Dolichocephaly, Tricuspid valve prolapse, Plagiocephaly, Umbilical hernia |
ORPHA:1101 |
| Pallister-Hall Syndrome |
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Ambiguous genitalia, Precocious puberty, Renal dysplasia, Hydrometrocolpos, Bifid uvula, Cleft pa... |
ORPHA:672 |
| Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly |
OMIM:618792 |
| Spondylometaphyseal Dysplasia, Algerian Type |
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Genu valgum, Anterior rib cupping, Carpal bone hypoplasia, Kyphoscoliosis, Platyspondyly, Lumbar ... |
OMIM:184253 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Brachycephaly, Hydrocephalus, Short stature |
OMIM:109120 |
| Neurofaciodigitorenal Syndrome |
|
Brachycephaly, Plagiocephaly, Intrauterine growth retardation, Short stature |
ORPHA:2673 |
| Campomelia, Cumming Type |
|
Abnormal rib morphology, Abnormal thorax morphology, Abnormally ossified vertebrae |
ORPHA:1318 |
| Contractural Arachnodactyly, Congenital |
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Patent ductus arteriosus, Brachycephaly, Scaphocephaly, Ventricular septal defect, Bicuspid aorti... |
OMIM:121050 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Brachycephaly, Encephalocele, Short stature, Anencephaly, Left ventricu... |
OMIM:619148 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Genu varum, Genu valgum, Short ribs, Irregular chondrocostal junctions, Joint laxity, Carpal bone... |
OMIM:250420 |
| Restrictive Dermopathy 2 |
|
Short clavicles, Gastroesophageal reflux, Rectal prolapse |
OMIM:619793 |
| Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Supernumerary vertebrae, Supernumerary ribs |
OMIM:193500 |
