Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, 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 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Dwarfism With Tall Vertebrae |
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Increased vertebral height |
OMIM:126950 |
Autosomal Dominant Spondylocostal Dysostosis |
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Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Diaphanospondylodysostosis |
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Short neck, Missing ribs, Short thorax, Enlarged thorax, Absent or minimally ossified vertebral b... |
ORPHA:66637 |
Poland Syndrome |
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Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae |
OMIM:173800 |
Primary Basilar Invagination |
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Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck |
ORPHA:2285 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Cervical Vertebral Dysplasia |
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Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum,... |
ORPHA:3268 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
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 |
Galactosialidosis |
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Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:351 |
Brachyolmia, Maroteaux Type |
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Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral fusion, Sacral dimple, Short thorax, Vertebral segmentation defect |
OMIM:618845 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hyperconvex vertebr... |
OMIM:184255 |
Isolated Klippel-Feil Syndrome |
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Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Becker Nevus Syndrome |
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Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Cleidocranial Dysplasia, Recessive Form |
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Severe short stature, Brachycephaly |
OMIM:216330 |
Acromesomelic Dysplasia, Maroteaux Type |
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Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... |
ORPHA:40 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Femoral-Facial Syndrome |
|
Short femur, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, Abnormal rib morph... |
ORPHA:1988 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Osteoarthritis With Mild Chondrodysplasia |
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Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Short thorax, Kyphoscoliosis |
ORPHA:93304 |
Osteomesopyknosis |
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Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Autosomal Recessive Spondylocostal Dysostosis |
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Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Camptodactyly of finger,... |
ORPHA:2311 |
Heart Defects-Limb Shortening Syndrome |
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Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:1354 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Sprengel Deformity |
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Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Endosteal Hyperostosis, Worth Type |
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Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib morphology, Abnormal form of t... |
ORPHA:2790 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
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 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
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Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Symbrachydactyly Of Hands And Feet |
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Vertebral segmentation defect, Abnormality of the humeroulnar joint, Scoliosis |
ORPHA:1570 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly |
ORPHA:1665 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, Pectus carinatum, Scoliosis, But... |
ORPHA:313892 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
Keratoconus Posticus Circumscriptus |
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Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Spondylometaphyseal Dysplasia, A4 Type |
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Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Sho... |
OMIM:178110 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... |
OMIM:113000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:1836 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Lower Limb Malformation-Hypospadias Syndrome |
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Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Short neck, Abnormal tibia morphol... |
ORPHA:2487 |
Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Abnormal thorax morphology, Spina bifida occulta at S1, Spina bifida occu... |
OMIM:102510 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pyloric stenosis, Sensorineural hearing impairment, Abnormal repeti... |
ORPHA:261197 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology |
OMIM:618709 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Fibrodysplasia Ossificans Progressiva |
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Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o... |
ORPHA:337 |
Maternal Uniparental Disomy Of Chromosome 9 |
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Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Abnorm... |
ORPHA:96183 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Decreased skull ossification, Scoliosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3319 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis, Schmorl's node, Irregular vertebral endplates, Intervert... |
OMIM:614135 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis |
ORPHA:1445 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi... |
OMIM:616602 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Conduct... |
OMIM:611209 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
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Frontal bossing, Ventricular septal defect, Short stature, Plagiocephaly, Atrial septal defect |
OMIM:618330 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... |
ORPHA:85198 |
Kleefstra Syndrome 2 |
|
Plagiocephaly, Growth delay, Midface retrusion |
OMIM:617768 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Multiple Pterygium Syndrome, Lethal Type |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Abnormal vertebr... |
ORPHA:166024 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Midface retrusion |
ORPHA:1532 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat acetabular roof, Pectus c... |
OMIM:609052 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Pentasomy X |
|
Plagiocephaly, Abnormal cardiac septum morphology, Short stature, Delayed puberty |
ORPHA:11 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Brachycephaly, Plagiocephaly, Dolichocephaly, Intrauterine growth retarda... |
ORPHA:272 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly |
ORPHA:459074 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
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 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2916 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... |
OMIM:613982 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Thoracolumbar scoliosis, Absent spinous processes... |
OMIM:601344 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... |
ORPHA:3266 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Frontal bossing |
OMIM:619264 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Ventricular septal defect, Short stature, Patent ductus arteriosus, Hydrocephalu... |
OMIM:218350 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular verte... |
OMIM:618395 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Pectus carinatum, Reduced bone mineral density, Abnormal bone ossification, Abnormal ... |
ORPHA:93315 |
Cebalid Syndrome |
|
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion |
OMIM:618774 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Frontal bossing, Bicuspid aortic valve, Short stature, Brachycephaly, Plagiocephaly, Hypoplastic ... |
OMIM:619721 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Vertebral wedging, Genu valgum, Bell-shaped thorax, Pectus carinatum |
OMIM:255710 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of joint mobility, Rib f... |
ORPHA:2990 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis |
OMIM:615583 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junction, Osteoarthrit... |
OMIM:271650 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Platyspondyly, Narrow chest, Scoliosis, Thoracic hypoplasia |
OMIM:602271 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Ventricular septal defect |
ORPHA:94066 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Abnormal carpal morphology... |
ORPHA:93351 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Micropenis, Distal shortening ... |
OMIM:146510 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Missing ribs, Short neck, Anorectal anomaly, Abnormality of the ureter,... |
ORPHA:1834 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Bicuspid aortic valve, Scaphocephaly, Plagiocephaly, Pulmonic stenosis, Atrial s... |
OMIM:619149 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Unilambdoid synostosis, Brachycephaly, Midface retrusion |
OMIM:618577 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch anomaly, Ce... |
OMIM:148050 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Growth delay, Short stature, Brachycephaly |
ORPHA:2528 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morphology, Abnormali... |
ORPHA:1486 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Brachycephaly |
OMIM:309545 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Brachycephaly, Transposition of the great arteries, Atrial septal defe... |
ORPHA:1913 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Plagiocephaly, Scaphocephaly, Abnormal heart morphology |
ORPHA:1143 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Tapered finger, Pectus excavatum, Long fingers, Aggressi... |
OMIM:609425 |
Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Brachycephaly |
ORPHA:46 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl... |
OMIM:268310 |
Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Growth delay |
OMIM:222748 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Sho... |
ORPHA:1703 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... |
OMIM:213980 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Joint hyperflexibility, A... |
ORPHA:915 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Brachycephaly, Prominent... |
OMIM:220210 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect, Posterior plagiocephaly, Rhizomelic arm shortening |
ORPHA:96190 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Plagiocephaly |
ORPHA:521390 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly |
OMIM:618265 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Sc... |
ORPHA:3027 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Lateral clavicle hook, Elbow dislocation, Anterior vertebral fusion, Shoulder dis... |
OMIM:171480 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... |
ORPHA:50 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat acetabular roof, Irregular vertebral endplates, Platyspon... |
OMIM:609616 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Brachycephaly, Abnormal heart morphology, Plagiocephaly... |
ORPHA:369891 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest, D... |
ORPHA:93267 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Short neck, Hyperlordosis... |
OMIM:272460 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Plagiocephaly, Umbilical hernia, Intrauterine g... |
OMIM:617751 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Rhizomelia, Patent foramen ovale |
OMIM:618821 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Dislocated radial head, Limited elbow movement, Interphalangeal joint contractu... |
OMIM:305620 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Brachycephaly, Dolichocephaly |
OMIM:615433 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Prominent occiput, Plagiocephaly, Brachycephaly, Dolichocephaly |
OMIM:618672 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormality of the ureter, Hydronephrosis, Round ear |
ORPHA:1450 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Band Heterotopia |
|
Plagiocephaly |
OMIM:600348 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Vertebral segmentation defect, Hemivertebrae, Narrow chest |
OMIM:617661 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Brachycephaly |
OMIM:300699 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, 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 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Transposition of the great arteries, Patent forame... |
OMIM:616789 |
Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Frontal bossing, Plagiocephaly, Short stature |
OMIM:617808 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge... |
ORPHA:2180 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Plagiocephaly, Umbil... |
ORPHA:500159 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Short stature, Brachycephaly |
ORPHA:1695 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis, Generalized jo... |
OMIM:618000 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Plagiocephaly, Frontal bossing, Brachycephaly, Intrauterine growth retardation |
OMIM:616801 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Supernumerary ribs, Bifid ribs, Scolios... |
OMIM:304050 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior r... |
ORPHA:263508 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis |
ORPHA:3210 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Aggressive behavior, Sensorineural he... |
ORPHA:544488 |
Houge-Janssens Syndrome 3 |
|
Frontal bossing, Muscular ventricular septal defect, Plagiocephaly, Atrial septal defect, Umbilic... |
OMIM:618354 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of... |
ORPHA:1507 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Abnormality ... |
ORPHA:2319 |
Muenke Syndrome |
|
Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface retrusion |
OMIM:602849 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture |
ORPHA:85193 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... |
ORPHA:168549 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Join... |
ORPHA:2759 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Posterior plagiocephaly |
OMIM:619927 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Metata... |
OMIM:144750 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of... |
ORPHA:628 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility |
OMIM:619122 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short stature, Brachycephaly |
ORPHA:1514 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Irregular ossification o... |
OMIM:109400 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Postnatal growth retardation, Brachycephaly, Intrauterine growth retardation, Hype... |
OMIM:300590 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Brachycephaly |
OMIM:618603 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Umbilical hernia, Short stature, Brachycephaly, Intrauterine growth retardation |
OMIM:615834 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Transposition of the great arteries |
OMIM:619910 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Sprengel anomaly, Gastroesophageal reflux, Micropenis, Dy... |
OMIM:134780 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Enuresis, Self-injurious behavior, Compulsive behaviors, Attention deficit h... |
OMIM:613670 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Growth delay |
OMIM:308350 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Brachycephaly |
OMIM:615985 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... |
ORPHA:474 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Intrauterine growth retardation |
OMIM:600325 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Prune1-Related Neurological Syndrome |
|
Plagiocephaly, Hypertrophic cardiomyopathy |
ORPHA:544469 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis |
OMIM:618736 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Pectus excavatum, Elbow dislocation, Dislocate... |
OMIM:150250 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Chronic otitis media, Abnormal vertebral morphology, Low-s... |
ORPHA:280 |
6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Short stature |
ORPHA:251056 |
Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly |
OMIM:618008 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Midface retrusion |
OMIM:618731 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... |
ORPHA:93311 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Posteriorly rotated ears, Rocker bottom foot, Coxa val... |
OMIM:301056 |
Craniofrontonasal Dysplasia |
|
Plagiocephaly, Frontal bossing, Brachycephaly, Craniosynostosis |
ORPHA:1520 |
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Short stature, Brachycephaly |
OMIM:618862 |
White Forelock With Malformations |
|
Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Sprengel anomaly, S... |
ORPHA:2475 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Short p... |
OMIM:235510 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Trident acetabulum, Narrow chest, Short ribs, Acetabular spurs, Horizontal... |
OMIM:617405 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Plagiocephaly |
OMIM:614563 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Patent ductus arteriosus, Brachycephaly,... |
OMIM:179613 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Craniosynostosis, Patent ductus arteriosus, Hydrocephalus, Brachycephaly, Umbilical... |
ORPHA:171839 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Pectus carinatum, Genu v... |
OMIM:184250 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Biconcave vertebral bodies, Wo... |
OMIM:617952 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Brachycephaly, Abnormal heart morphology, Plagiocephaly, Umbilical hernia, Midface... |
ORPHA:261652 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hearing impairment, Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus he... |
ORPHA:101009 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Limited elbow extension, Flat ace... |
OMIM:608728 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturation, Short thorax... |
ORPHA:582 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly |
OMIM:620200 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate,... |
OMIM:601076 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... |
ORPHA:195 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis |
ORPHA:64754 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Sclerosis of skull base, Scoliosis, Wor... |
OMIM:130720 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anteverted ears, Macrotia, Abn... |
OMIM:615541 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Short stature, Postnatal growth retardation, Brachycephaly, Growth delay, Dolichoce... |
OMIM:613792 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Clinodac... |
ORPHA:1606 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe... |
OMIM:239500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate... |
ORPHA:3320 |
German Syndrome |
|
Short stature, Brachycephaly, Abnormal cardiac septum morphology, Dolichocephaly, Tetralogy of Fa... |
ORPHA:2077 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Absent ossification of calvaria, T... |
OMIM:166210 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Plagiocephaly |
ORPHA:77300 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus, Brachycephaly, Atri... |
OMIM:618142 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Plagiocephaly |
OMIM:615516 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral ... |
ORPHA:96169 |
Hurler-Scheie Syndrome |
|
Limitation of joint mobility, Abnormal vertebral morphology, Spinal canal stenosis |
ORPHA:93476 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Beaded ribs, Platyspondyly, Decreased ca... |
OMIM:616229 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Short neck, Hyperlordosis, Hy... |
OMIM:253000 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Intrauterine growth retardation |
ORPHA:2145 |
Robinow Syndrome |
|
Hemivertebrae, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Multicystic kidney... |
ORPHA:97360 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly |
OMIM:617481 |
Potocki-Shaffer Syndrome |
|
Parietal foramina, Turricephaly, Brachycephaly |
OMIM:601224 |
Trisomy 13 |
|
High, narrow palate, Kyphosis, Sensorineural hearing impairment, Abnormality of the ureter, Abnor... |
ORPHA:3378 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:264470 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspondyly, Flared... |
OMIM:602111 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Brachycephaly, Intrauterine growth retardation, Coronal craniosyn... |
ORPHA:228390 |
Potocki-Shaffer Syndrome |
|
Parietal foramina, Brachycephaly, Delayed puberty |
ORPHA:52022 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti... |
ORPHA:93352 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short stature, Spina bifida, Brachycephaly, Intrauterine growth retardation, Midface retrusion |
ORPHA:1327 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Brachycephaly |
ORPHA:228399 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Plagiocephaly, Frontal bossing, Brachycephaly, Midface retrusion |
OMIM:618430 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati... |
ORPHA:93346 |
Bresek Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Growth delay |
ORPHA:85284 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Short stature |
OMIM:618089 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Kyphosis... |
ORPHA:392 |
Phaver Syndrome |
|
Camptodactyly of finger, Joint stiffness, Abnormal rib morphology, Abnormal form of the vertebral... |
ORPHA:2876 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Jo... |
ORPHA:2050 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Pseudoachondroplasia |
|
Joint laxity, Lumbar hyperlordosis, Genu recurvatum, Limited hip extension, Spatulate ribs, Ulnar... |
OMIM:177170 |
Achondrogenesis Type 1B |
|
Abnormal enchondral ossification, Short neck, Short thorax, Abnormal rib morphology, Narrow chest |
ORPHA:93298 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... |
ORPHA:2021 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosi... |
ORPHA:3082 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Abnormal rib morphology, ... |
ORPHA:1513 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Conductive hearing impairment, Ab... |
OMIM:194190 |
Cooper-Jabs Syndrome |
|
Frontal bossing, Ventricular septal defect, Short stature, Brachycephaly, Umbilical hernia |
ORPHA:1488 |
Even-Plus Syndrome |
|
Severe short stature, Brachycephaly, Atrial septal defect, Patent foramen ovale, Midface retrusion |
OMIM:616854 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Fused cervical vertebra... |
OMIM:157800 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Abnormal mitral valve morphology, Short stature, Brachycephaly, Biparietal narro... |
ORPHA:1292 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Short stature, Brachycephaly |
ORPHA:320385 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Muenke Syndrome |
|
Plagiocephaly, Coronal craniosynostosis, Brachycephaly |
ORPHA:53271 |
Atelosteogenesis, Type I |
|
11 pairs of ribs, Long clavicles, Short neck, Thoracic platyspondyly, Elbow dislocation, Bell-sha... |
OMIM:108720 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Atrioventricular canal defect, Brachycephaly |
OMIM:617364 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Short stature, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... |
ORPHA:2838 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Short stature, Brachycephaly, Craniosynostosis |
ORPHA:2163 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:887 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Short stature, Plagiocephaly, Prominent occiput, Atrial septal defect,... |
OMIM:617360 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Gastroesophageal reflux, Scoliosis |
OMIM:617393 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Plagiocephaly, Growth delay, Left unicoronal synostosis, Atrial septal defect, Anterior plagiocep... |
OMIM:614749 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Short stature, Brachycephaly |
OMIM:309541 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly |
OMIM:615419 |
Smith-Magenis Syndrome |
|
Brachydactyly, Hyperactivity, Abnormal repetitive mannerisms, Velopharyngeal insufficiency, Abnor... |
OMIM:182290 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Brachycephaly |
OMIM:615031 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Bruxism, Short foot, Agitation, Scoliosis, Dysphagia, Abnormal repetitive m... |
OMIM:617435 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Frontal bossing, Short stature, Intrauterine growth retardation |
ORPHA:371364 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Pla... |
ORPHA:457279 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Severe short stature, Rhizomelia, Brachycephaly, Midface retrusion |
OMIM:264180 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Clinodactyly, Large fleshy ears, Thoracic kyphosis,... |
OMIM:619092 |
Osteogenesis Imperfecta, Type Xx |
|
Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature, Intrauterine growth reta... |
OMIM:618644 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Short stature, Ventricular septal defect, Craniosynostosis, Plagiocephaly, Growth delay, Atrial s... |
ORPHA:457193 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Nephrocalcinosis, Bell-shaped thorax, Thoracic dysp... |
OMIM:615633 |
Grant Syndrome |
|
Joint dislocation, Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility,... |
ORPHA:2097 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Scoliosis, Attention d... |
OMIM:620141 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Aplasia/Hypop... |
ORPHA:3409 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... |
ORPHA:239 |
Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Short thorax, Abnormal rib morphology, Hip dislocation, Osteolyti... |
ORPHA:2484 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Kyphosis, Submucous cleft hard palate, Rib fusion, Hemiverte... |
OMIM:617140 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Mi... |
ORPHA:207 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Sh... |
OMIM:617666 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, Protruding ear, H... |
ORPHA:235 |
3M Syndrome |
|
Scapular winging, Congenital hip dislocation, Short neck, Hyperlordosis, Increased vertebral heig... |
ORPHA:2616 |
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 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Pierpont Syndrome |
|
Short stature, Brachycephaly, Midface retrusion |
OMIM:602342 |
Robinow-Sorauf Syndrome |
|
Plagiocephaly, Pansynostosis, Craniosynostosis |
OMIM:180750 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... |
ORPHA:2842 |
Malan Overgrowth Syndrome |
|
Plagiocephaly, Frontal bossing, Scaphocephaly |
ORPHA:420179 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Flat acetabular roof, Thin ribs, ... |
OMIM:151210 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Cleft palate, Anterior creases of earlobe, Scoliosis, Compulsive behaviors, At... |
ORPHA:1727 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Abnormality of the kidney, Pectus excavatum, Midgut malrotati... |
OMIM:263750 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Posteriorly rotated ears, Tapered finger, Sensorineural hearing impairment... |
OMIM:239300 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Frontal bossing, Bicuspid aortic valve, Plagiocephaly, Atrial septal defect, Midface retrusion |
OMIM:619720 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Short stature, Brachycephaly |
ORPHA:93950 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Brachycephaly, Mitral valve prolapse, Patent foramen ovale, Midface retrusion |
OMIM:615539 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Flat occiput, Plagiocephaly |
OMIM:619383 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Down-sloping shoulders, Pectus excavatum, Hyperextensible hand joints, Abnormal... |
OMIM:227330 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Flat glenoid fossa, Pectus carinatum, Thoracic kyphosis, Multicentric ossification of... |
OMIM:223800 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Brachycephaly, Abnormal heart morphology |
ORPHA:70472 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Brachycephal... |
OMIM:612582 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Short stature, Trigonocephaly, Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Brachycep... |
ORPHA:459061 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Kyphosis, Repetitive compulsive behavior, Joint contracture of the 5th finger, Low... |
ORPHA:352490 |
Baker-Gordon Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Gastroesophageal reflux, Scoliosis |
OMIM:618218 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Baller-Gerold Syndrome |
|
Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hearing impairment, Spina bi... |
OMIM:218600 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia of the radius,... |
OMIM:613390 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Short foot, Abnormal repetitive mannerisms, Self-injurious behavior, Small hand |
OMIM:615282 |
Cri-Du-Chat Syndrome |
|
Short neck, Short metatarsal, High palate, Gastroesophageal reflux, Abnormal repetitive mannerism... |
OMIM:123450 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Low-set ears, Chronic otitis ... |
ORPHA:276422 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... |
OMIM:143400 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, Ab... |
ORPHA:90652 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Plagiocephaly, Intrauterine growth retardation, Short stature |
OMIM:619833 |
Acrorenal-Mandibular Syndrome |
|
Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the ulna, Split h... |
OMIM:200980 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Short clavicles, Flat acetabular roof |
OMIM:617159 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Frontal bossing, Abnormal cardiac septum morphology, Brachycephaly |
OMIM:608776 |
Faciocardiorenal Syndrome |
|
Plagiocephaly, Tricuspid valve prolapse, Endocardial fibroelastosis |
ORPHA:1973 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly |
OMIM:618859 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
Foxg1 Syndrome |
|
Kyphoscoliosis, Gastroesophageal reflux, Scoliosis, Bruxism, Abnormal repetitive mannerisms, Paro... |
ORPHA:561854 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, High palate, Gastroesophageal reflux, Conductive hearing impairment, Thickened he... |
OMIM:607872 |
Galloway-Mowat Syndrome 4 |
|
Plagiocephaly, Short stature |
OMIM:617730 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... |
OMIM:604757 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Pectus excavatum, Aggressive behavior, Horseshoe kidney, Pectus cari... |
ORPHA:65286 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Genu valgum, Broad ribs |
ORPHA:583 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Ventricular septal defect, Brachycephaly, Growth delay, Tetralogy of Fallot |
ORPHA:3306 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal sacrum morpho... |
ORPHA:1756 |
17Q12 Microduplication Syndrome |
|
Abnormal vertebral morphology |
ORPHA:261272 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Short stature, Sagittal craniosynostosis, Patent ductus arteriosus, Te... |
OMIM:201000 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca... |
OMIM:610443 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly |
ORPHA:93262 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Plagiocephaly, Short stature |
ORPHA:363528 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Vertebral segmentation defect |
ORPHA:3004 |
4Q21 Microdeletion Syndrome |
|
Short palm, Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Self-injuri... |
ORPHA:238750 |
Cenani-Lenz Syndrome |
|
Elbow dislocation, Abnormal rib morphology, Hip dislocation, Abnormal form of the vertebral bodie... |
ORPHA:3258 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Ventricular septal defect, Short stature, Brachycephaly, Atrial septal defect, Intr... |
OMIM:617452 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Abnormal local... |
ORPHA:819 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Short neck, Clinodactyly of the 2nd toe, Coxa valga, Short distal... |
OMIM:620073 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Plagiocephaly, Frontal bossing |
OMIM:619293 |
Anauxetic Dysplasia 3 |
|
Plagiocephaly, Severe short stature, Midface retrusion |
OMIM:618853 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Plagiocephaly, Umbilical hernia |
OMIM:616579 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Calcaneal epiphyseal stippling, C... |
ORPHA:79345 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Short stature, Brachycephaly, Midface retrusion |
ORPHA:1387 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Fg Syndrome Type 1 |
|
Short stature, Craniosynostosis, Mitral valve prolapse, Prominent occiput, Plagiocephaly, Atrial ... |
ORPHA:93932 |
Renpenning Syndrome |
|
Hypospadias, Pectus excavatum, High, narrow palate, Sensorineural hearing impairment, Abnormal th... |
ORPHA:3242 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, ... |
OMIM:610915 |
Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:276950 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Craniosynostosis, Parietal foramina, Calvarial skull defect, Brachycephaly, Intrau... |
OMIM:613451 |
Ritscher-Schinzel Syndrome 4 |
|
Plagiocephaly, Short stature, Brachycephaly |
OMIM:619435 |
Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Finger syndactyly, Hydroureter, ... |
ORPHA:568 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Abnormal ... |
OMIM:200600 |
Pontocerebellar Hypoplasia, Type 3 |
|
Short stature, Brachycephaly |
OMIM:608027 |
Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly |
OMIM:620149 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Anterior plagiocephaly, Frontal bossing, Brachycephaly |
ORPHA:163649 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Frontal bossing, Flat occiput, Severe short stature, Facial hyperostosis, Brachycephaly, Aortic v... |
ORPHA:2780 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Skull asymmetry, Midface retrusion |
OMIM:601853 |
Laurence-Moon Syndrome |
|
Short stature, Brachycephaly |
ORPHA:2377 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:1046 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Intrauterine growth retardation |
OMIM:219150 |
Hogue-Janssen Syndrome 2 |
|
Plagiocephaly |
OMIM:616362 |
Pierpont Syndrome |
|
Brachycephaly |
ORPHA:487825 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Delayed closure of the anterior fontanell... |
OMIM:224300 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Joint laxity, Generalized joint laxity, T... |
OMIM:613848 |
Chopra-Amiel-Gordon Syndrome |
|
Postnatal growth retardation, Short stature, Brachycephaly, Midface retrusion |
OMIM:619504 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Hypospadias, Posteriorly rotated ears, Fractured radius, Bea... |
OMIM:616897 |
Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia... |
ORPHA:1318 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal renal morphology, Gastroesophageal reflux, Hig... |
OMIM:610883 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Postnatal growth retardation, Plagiocephaly, Intrauterine growth retardation |
ORPHA:251061 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormality of the ure... |
ORPHA:52 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Clark-Baraitser Syndrome |
|
Brachycephaly, Dolichocephaly |
OMIM:617752 |
Al Kaissi Syndrome |
|
Short stature, Postnatal growth retardation, Brachycephaly, Atrial septal defect, Intrauterine gr... |
OMIM:617694 |
Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib mo... |
ORPHA:96061 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Butterfly vertebrae, Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilata... |
OMIM:265380 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Abnormal heart morphology, Pl... |
ORPHA:453499 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Flat occiput, Ventricular septal defect, Short stature, Brachycephaly, Atrial septal defect, Intr... |
ORPHA:505237 |
Chromosome 2Q37 Deletion Syndrome |
|
Midface retrusion, Short stature, Brachycephaly, Subvalvular aortic stenosis |
OMIM:600430 |
Christianson Syndrome |
|
Pectus excavatum, Abnormal thorax morphology, Gastroesophageal reflux, Inappropriate laughter, Dy... |
ORPHA:85278 |
Noonan Syndrome 13 |
|
Atrial septal defect, Plagiocephaly, Mitral valve prolapse |
OMIM:619087 |
Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Plagiocephaly, Growth delay |
OMIM:619188 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly |
OMIM:619972 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Abnormality of the ure... |
ORPHA:1035 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobility, Abnormal rib morphology... |
ORPHA:3068 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Hematochezia, Compulsive behaviors, Stercoral ulcer |
ORPHA:209964 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Joint stiffnes... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed ske... |
OMIM:300232 |
Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Brachycephaly, Midface retrusion |
ORPHA:1791 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... |
ORPHA:2911 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Short stature, Brachycephaly |
OMIM:268850 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Cleft palate, Abnormal shoulder morphology, Radioulnar synostosis, Gastroeso... |
ORPHA:10 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Arachnodactyly, Hyperlordosis, Aggressive behavior, Pectus carinatum, Self-injurious behavior, Ga... |
OMIM:300986 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Short neck, Kyphosis, Hemivertebrae, Hip disl... |
ORPHA:958 |
Williams-Beuren Region Duplication Syndrome |
|
Brachycephaly, Patent ductus arteriosus, Short stature, Hydrocephalus |
OMIM:609757 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Short stature, Abnormal pulmonary valve morphology, Spina bifida... |
ORPHA:500 |
Trisomy 20P |
|
Frontal bossing, Spina bifida, Brachycephaly, Plagiocephaly, Dolichocephaly, Umbilical hernia |
ORPHA:261318 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Widely patent sagittal su... |
OMIM:228520 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... |
OMIM:180860 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Kyphosis, Aggressive behavior, 2-... |
OMIM:617061 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:617296 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Flat occiput, Brachycephaly |
ORPHA:2511 |
Desanto-Shinawi Syndrome |
|
Brachycephaly, Midface retrusion |
OMIM:616708 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atre... |
OMIM:115470 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, B... |
OMIM:230500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Dysplastic pulmonary valve |
OMIM:300958 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Tapered finger, High palate, Scoliosis, Attention deficit hyperactivity diso... |
OMIM:618825 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Microgastria, Multicystic kidney dysplasia, ... |
ORPHA:2538 |
3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax... |
ORPHA:435638 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Long fingers, Self-injurious behavior, Large hands, High palate, Low-se... |
OMIM:613174 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Wormian bones, Broad ribs |
ORPHA:85184 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... |
OMIM:612921 |
Cornelia De Lange Syndrome 5 |
|
Postnatal growth retardation, Short stature, Brachycephaly |
OMIM:300882 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Ventricular septal defect, Bicuspid aortic valve, Short stature, Brachycephaly, ... |
OMIM:610759 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Patent ductus arteriosus, Brachycephaly, Umbilical hernia, Coronal craniosynostosis |
ORPHA:2095 |
N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Clubbing, Hamartomatous poly... |
OMIM:175200 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... |
ORPHA:324964 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Brachycephaly |
ORPHA:352530 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim... |
ORPHA:2438 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs |
OMIM:200610 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, A... |
OMIM:600795 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Chromosome 17P13.1 Deletion Syndrome |
|
Turricephaly, Spina bifida, Brachycephaly, Plagiocephaly, Umbilical hernia |
OMIM:613776 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Plagiocephaly |
OMIM:617822 |
2Q32Q33 Microdeletion Syndrome |
|
Growth delay, Short stature, Brachycephaly |
ORPHA:251019 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Hemivertebrae, Tracheoeso... |
ORPHA:77298 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Pectus excavatum, Long fingers, Tapered finger, Attention defic... |
OMIM:301029 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Accelerated skeletal maturation, Delayed skeletal maturation,... |
ORPHA:1517 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Plagiocephaly, Short stature |
OMIM:618106 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Micropenis, Bifid uvula, Paroxysmal bursts of laughter, Low-set, p... |
ORPHA:672 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Scoliosis |
OMIM:618906 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Short stature, Abnormal heart morphology |
OMIM:615656 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... |
OMIM:123500 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Irregular carpal bones, Short ribs, Scoliosis, Broad ribs, Shallow acetabular f... |
OMIM:252600 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Plagiocephaly, Severe short stature, Midface retrusion, Dolichocephaly |
ORPHA:2215 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Hyperactivity, Abnormal pinna morphology, Pectus excavatum, Inappropriate laughter... |
OMIM:614104 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Prominent occiput, Plagiocephaly, Growth delay, Biparietal narrowing |
ORPHA:2612 |
Kury-Isidor Syndrome |
|
Growth delay, Frontal bossing, Ventricular septal defect, Brachycephaly |
OMIM:619762 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Brachycephaly, Short stature, Dextrotransposition of the great arteries |
OMIM:619995 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Bilateral renal dysplasia, Unilateral renal agenesis, Kypho... |
ORPHA:500150 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Plagiocephaly, Growth delay, Abnormal parietal bone morphology, Brachycephaly |
ORPHA:247262 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly |
OMIM:605282 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial os... |
OMIM:620076 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs |
ORPHA:163966 |
Menkes Disease |
|
Intrauterine growth retardation, Short stature, Brachycephaly |
OMIM:309400 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Brachycephaly |
ORPHA:776 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... |
OMIM:314390 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, High palate, Clinodactyly of... |
OMIM:618347 |
Microphthalmia, Syndromic 1 |
|
High, narrow palate, Rectal prolapse, High palate, Narrow chest, Prominent fingertip pads, Self-m... |
OMIM:309800 |
Prune Belly Syndrome |
|
Hydroureter, Pectus excavatum, Xerostomia, Pectus carinatum, Congenital posterior urethral valve,... |
OMIM:100100 |
Achard Syndrome |
|
Broad skull, Brachycephaly |
OMIM:100700 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Atrial septal defect,... |
OMIM:207410 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Brachyturricephaly, Ethmoidal encephalocele |
OMIM:607597 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo... |
OMIM:184253 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Hypertrophic cardiomyopathy, Growth delay |
OMIM:615471 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Frontal bossing, Brachycephaly |
OMIM:615828 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Tapered finger, Pectus excavatum, Kyphosis, Unilateral radial aplasia, Part... |
ORPHA:476126 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal rib... |
OMIM:618019 |
Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly |
OMIM:618792 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, High palate... |
OMIM:618342 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Gastroesophageal reflux, Dysphagia, Macrotia, Abnormal rep... |
DECIPHER:45 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Short clavicles |
OMIM:619793 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Umbilical hernia, Tricuspid valve prolapse, Dolichocephaly |
ORPHA:1101 |
Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Craniosynostosis, Patent ductus arteriosus, Brachycephaly, Atrial septal defect, ... |
ORPHA:1790 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Irregular chondrocostal junc... |
OMIM:250420 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Short stature, Brachycephaly |
OMIM:109120 |
Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Scap... |
OMIM:121050 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Short stature, Trigonocephaly, Patent ductus arteriosus, Anencephaly, Brachycephal... |
OMIM:619148 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Frontal bossing, Brachycephaly |
OMIM:608688 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Pa... |
OMIM:618718 |
Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Neurofaciodigitorenal Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Short stature, Brachycephaly |
ORPHA:2673 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, 2-3 toe syndactyly, Scoliosis, Macrotia, Abno... |
ORPHA:391307 |
2Q23.1 Microdeletion Syndrome |
|
Growth delay, Short stature, Brachycephaly |
ORPHA:228402 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Aggressive behavior, Py... |
ORPHA:261494 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Craniosynostosis, Brachycephaly, Atrial septal defect, Intrauterine gr... |
ORPHA:254346 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Plagiocephaly, Frontal bossing, Growth delay |
OMIM:617193 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Posterior plagiocephaly, Ventricular septal defect, Brachycephaly |
OMIM:617798 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly |
OMIM:615761 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Brachycephaly, Conotruncal defect, Growth delay, Abnormal cardiac septum morphology... |
ORPHA:96147 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly |
ORPHA:2063 |
Monosomy 18P |
|
Brachycephaly, Short stature, Holoprosencephaly |
ORPHA:1598 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Short neck, H... |
ORPHA:3015 |
Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal penis ... |
ORPHA:2461 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Short neck, Py... |
ORPHA:1001 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal scapula morphology, Accelerated skeletal maturation, Delayed skeletal maturation, Abnorm... |
ORPHA:93317 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Plagiocephaly, Postnatal growth retardation, Flat occiput |
ORPHA:300570 |
Coffin-Siris Syndrome 7 |
|
Brachydactyly, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Pectus excavatum,... |
OMIM:618027 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Abnormali... |
ORPHA:2549 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hemivertebrae, Gastroesophageal reflux, Micropenis, Abnormal repetitive mannerisms, Hypospadias, ... |
OMIM:301040 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Talipes equinovarus, Attention deficit hyperactivity disorder, Dysphagia... |
OMIM:617695 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... |
ORPHA:93929 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Cubitus valgus, Genu valgum, Sclerosis of skull base, Scoliosis, Wormian bones, Broad... |
OMIM:269300 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Short stature, Brachycephaly |
ORPHA:1173 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Hitchhiker thumb, Thoracolumbar scoliosis, 2-3 finger syndacty... |
ORPHA:2437 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal tragus morphology, Scolios... |
ORPHA:1133 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Brachycephaly, Abnormal heart morphology |
OMIM:263210 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Plagiocephaly, Short stature, Brachycephaly |
ORPHA:500055 |
Diphallia |
|
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... |
ORPHA:227 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cervical hemivertebrae, Short neck, Pectus ex... |
ORPHA:508498 |
Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Plagiocephaly |
OMIM:619680 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... |
ORPHA:480536 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Brachycephaly |
ORPHA:1827 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Short neck, ... |
OMIM:212066 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... |
OMIM:139210 |
Opitz-Kaveggia Syndrome |
|
Frontal bossing, Short stature, Abnormal heart morphology, Plagiocephaly, Umbilical hernia |
OMIM:305450 |
Distal Deletion 10Q |
|
Frontal bossing, Short stature, Craniosynostosis, Postnatal growth retardation, Patent ductus art... |
ORPHA:96148 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
Distal Deletion 3P |
|
Short stature, Brachycephaly, Umbilical hernia, Atrioventricular canal defect, Intrauterine growt... |
ORPHA:1620 |
Sillence Syndrome |
|
Back pain, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morp... |
ORPHA:3168 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology |
ORPHA:2643 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic v... |
OMIM:215140 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Proportionate short stature, Plagiocephaly, Growth delay, Patent foram... |
OMIM:613457 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Aymé-Gripp Syndrome |
|
Pericarditis, Short stature, Craniosynostosis, Pericardial effusion, Postnatal growth retardation... |
ORPHA:1272 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Plagiocephaly, Turricephaly, Midface retrusion |
OMIM:620224 |
Saethre-Chotzen Syndrome |
|
Plagiocephaly, Short stature, Brachycephaly, Craniosynostosis |
ORPHA:794 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Hypophosphatasia |
|
Recurrent fractures, Abnormal rib morphology, Narrow chest, Craniosynostosis |
ORPHA:436 |
Pde4D Haploinsufficiency Syndrome |
|
Frontal bossing, Postnatal growth retardation, Brachycephaly, Intrauterine growth retardation, Th... |
ORPHA:439822 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Pectus carinatum, High palate, Low-set, posteriorly rotated ea... |
ORPHA:800 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Larsen-Like Syndrome |
|
Frontal bossing, Short stature, Brachycephaly |
OMIM:608545 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Dolichocephaly |
OMIM:619005 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Brachycephaly |
ORPHA:85290 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Lambdoidal craniosy... |
OMIM:603116 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Abnormality of the kidney, Aggressive behavior, Tongue thrusting, 2-3 toe syndacty... |
OMIM:606232 |
Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Abnormal form of th... |
ORPHA:904 |
Raine Syndrome |
|
Short stature, Brachycephaly, Plagiocephaly, Brachyturricephaly, Midface retrusion |
OMIM:259775 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Plagiocephaly, Postnatal growth retardation, Short stature |
OMIM:300749 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Impulsivity, Tapered finger, Aggressive behavior, High, narrow palate, Large earlo... |
OMIM:619312 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Brachycephaly |
OMIM:620240 |
Cleidocranial Dysplasia |
|
High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Chronic otitis media, Clinodactyly of... |
ORPHA:1452 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Parietal foramina, Brachycephaly, Plagiocephaly, Coronal craniosynostosis |
ORPHA:85199 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Brachycephaly, Cardiomegaly |
OMIM:618798 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Brachycephaly, Bicoronal synostosis, Midface retrusion |
ORPHA:93258 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Short neck, Pectus excavat... |
ORPHA:373 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Gastroesophageal reflux, Scoliosis, ... |
ORPHA:449291 |
Oeis Complex |
|
Duplicated collecting system, 11 pairs of ribs, Absence of the sacrum, Hydroureter, Renal agenesi... |
OMIM:258040 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Pectus excavatum, Fused cervical ... |
OMIM:617137 |
Apert Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovi... |
ORPHA:89936 |
Cerebrocostomandibular Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Gastroesophageal r... |
OMIM:117650 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Tapered finger, Pectus excavatum, Kyph... |
OMIM:303600 |
Kleefstra Syndrome 1 |
|
Brachydactyly, Hypospadias, Abnormal pinna morphology, Protruding tongue, Aggressive behavior, Ab... |
OMIM:610253 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Short thorax, Poorly ossified vertebrae, Enlarged thorax, ... |
ORPHA:3003 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Kinsship Syndrome |
|
Sacral dimple, Short neck, Coxa valga, Abnormal repetitive mannerisms, Renal hypoplasia, Horsesho... |
OMIM:619297 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
Stevenson-Carey Syndrome |
|
Atrial septal defect, Brachycephaly |
OMIM:611961 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Short stature, Brachycephaly, Lobar holoprosencephaly, Skull asymmetry, Tetralogy of Fallot |
OMIM:614701 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Arachnodactyly, Scoliosis, Attention deficit hyperactivity disorder, Recurrent han... |
OMIM:617600 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, High palate, Clinodactyly of the 5th finger, Prominent fingertip pads, A... |
OMIM:615637 |
Alazami Syndrome |
|
Abnormal eating behavior, Low-set ears, Scoliosis, Abnormal repetitive mannerisms, Self-mutilatio... |
ORPHA:319671 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnorm... |
OMIM:618504 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Hypospadias, Submucous cleft hard palate, Horseshoe kidney, H... |
OMIM:619103 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft pal... |
ORPHA:1770 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... |
ORPHA:261344 |
Alg12-Cdg |
|
Muscular ventricular septal defect, Biventricular hypertrophy, Posterior plagiocephaly, Intrauter... |
ORPHA:79324 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Postnatal growth retardation, Hydrocephalus, Brachycephaly, Pulmonic stenosis, Atr... |
OMIM:257300 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Clinodactyly o... |
OMIM:194050 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly |
OMIM:616083 |
Mesomelic Dysplasia, Nievergelt Type |
|
Mesomelic short stature, Brachycephaly, Dolichocephaly |
ORPHA:2633 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Carey-Fineman-Ziter Syndrome 1 |
|
Plagiocephaly, Abnormal cardiac septum morphology, Growth delay |
OMIM:254940 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hypospadias, Repetitive compulsive behavior, 2-3 toe cutaneous syndactyly, Bruxism, Short foot, H... |
OMIM:300260 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Gapo Syndrome |
|
Plagiocephaly, Umbilical hernia, Growth delay, Frontal bossing |
OMIM:230740 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Brachycephaly, Abnormal heart morphology |
ORPHA:404440 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Flat ac... |
OMIM:211350 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Renal cyst, Protruding ear, Gastroesophageal reflux, Clinodactyly of the 5th finger, Micropenis, ... |
ORPHA:464306 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Frontal bossing, Ventricular septal defect, Brachycephaly, Plagiocephaly, Transposition of the gr... |
OMIM:280000 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High... |
ORPHA:798 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Gastroesophageal reflux, Attention deficit hyperactivity diso... |
OMIM:620292 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Plagiocephaly, Growth delay |
ORPHA:496641 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Plagiocephaly, Frontal bossing, Turricephaly |
OMIM:613603 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Frontal bossing, Bicuspid aortic valve, Short stature, Craniosynostosis, Cardiomegaly, Rhizomelia... |
OMIM:245600 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Brachycephaly, Midface retrusion |
ORPHA:1784 |
White-Sutton Syndrome |
|
Duplicated collecting system, Overfriendliness, Hyperactivity, Posteriorly rotated ears, Short ne... |
OMIM:616364 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Frontal bossing, Craniosynostosis, Postnatal growth retardation, Mitral valve prolapse, Plagiocep... |
ORPHA:536467 |
Osteogenesis Imperfecta, Type Xii |
|
Brachyturricephaly, Short stature, Midface retrusion |
OMIM:613849 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Talipes equinovarus, Compulsive behaviors, Abnormal repetitive mannerism... |
OMIM:618917 |
Cranioectodermal Dysplasia 2 |
|
Frontal bossing, Cloverleaf skull, Short stature, Rhizomelia, Craniosynostosis, Plagiocephaly, Do... |
OMIM:613610 |
Trichohepatoneurodevelopmental Syndrome |
|
Plagiocephaly, Ventricular septal defect, Brachycephaly, Midface retrusion |
OMIM:618268 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms, Scoliosis |
OMIM:619317 |
Dextrocardia |
|
Intestinal malrotation, Abnormal renal morphology, Abnormal rib morphology, Abnormality of the ur... |
ORPHA:1666 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, 2-3 toe syndactyly, S... |
OMIM:618914 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Limitation of joint mobility, ... |
ORPHA:93473 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Po... |
OMIM:263520 |
9P13 Microdeletion Syndrome |
|
Umbilical hernia, Short stature, Brachycephaly |
ORPHA:324313 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Proportionate short stature, Spina bifida, Scaphocephaly, Brachycephaly, Thin ca... |
OMIM:234100 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Recurrent fractures, Protrusio acetabul... |
OMIM:610682 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Pectus excavatum, Limited elbow extension, Abnormal carpal morphology, Short ... |
OMIM:142900 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
Joubert Syndrome 1 |
|
Plagiocephaly, Occipital myelomeningocele |
OMIM:213300 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Pectus exc... |
ORPHA:464311 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Sacral dimple, Hyperactivity, Aggressive behavior, Prominent crus of helix, Bil... |
OMIM:619695 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, Gastroesophageal ... |
ORPHA:280633 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased intervertebral space, Thoracolumbar kyphosis, Short phalanx of finger, Abnormality of t... |
ORPHA:508533 |
Occipital Horn Syndrome |
|
Joint laxity, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, C... |
OMIM:304150 |
Atelosteogenesis Type Ii |
|
Plagiocephaly, Rhizomelic arm shortening, Rhizomelia, Midface retrusion |
ORPHA:56304 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly |
OMIM:218000 |
Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Patent urachus, Triphalangeal ... |
OMIM:192350 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Saethre-Chotzen Syndrome |
|
Short stature, Parietal foramina, Oxycephaly, Brachycephaly, Abnormal heart morphology, Plagiocep... |
OMIM:101400 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Hydrocephalus, Brachycephaly, Disproportionate ... |
OMIM:101800 |
Frontonasal Dysplasia 3 |
|
Brachycephaly |
OMIM:613456 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Aggressive behavior, B... |
OMIM:300912 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Broad skull, Patent ductus... |
OMIM:277600 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Atrial septal defect, Midface retrusion |
OMIM:619512 |
Pitt-Hopkins Syndrome |
|
Prominent fingertip pads, Sacral dimple, Short fourth metatarsal, Overlapping toe, Short fifth me... |
OMIM:610954 |
7Q11.23 Microduplication Syndrome |
|
Short neck, Hemivertebrae, High palate, Chronic otitis media, Abnormal repetitive mannerisms, Low... |
ORPHA:96121 |
Adnp Syndrome |
|
Short stature, Brachycephaly, Plagiocephaly, Trigonocephaly, Umbilical hernia |
ORPHA:404448 |
Au-Kline Syndrome |
|
Craniosynostosis, Sagittal craniosynostosis, Lipomyelomeningocele, Plagiocephaly, Dolichocephaly |
OMIM:616580 |
De Barsy Syndrome |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Patent ductus arteriosus,... |
ORPHA:2962 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Spina bifida, Plagiocephaly, Dolichocephaly, Atrioventricular canal defect |
OMIM:619480 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Plagiocephaly |
OMIM:261990 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Brachycephaly, Flat occiput, Exencephaly |
ORPHA:2211 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperactivity, Rhizomelia, Tapered finger, Pectus ... |
ORPHA:319182 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Ketonuria, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Protruding ear, Macroglossia, Abnormal antihelix morphology, Gastroesophageal reflux, S... |
ORPHA:261144 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Brachycephaly |
OMIM:612513 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Brachycephaly, Mitral valve prolapse, Atrial se... |
ORPHA:371428 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Abnormal rib morphology, Scoliosis, Joint stiffness |
ORPHA:1300 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Patent ductus arteriosus, Brachycephaly, Umbilical ... |
OMIM:618188 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Rectal fistula, Fetal pyelectasis,... |
ORPHA:49 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Patent ductus arteriosus, Brachycephaly, Lambdoidal craniosynostosis |
OMIM:615398 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular vert... |
OMIM:271640 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Neonatal death, Short stature, Brachycephaly |
OMIM:619859 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Proboscis, Craniosynostosis, Postnatal growth retardation, Hydroc... |
OMIM:605627 |
Acrofrontofacionasal Dysostosis 2 |
|
Short stature, Brachycephaly |
OMIM:239710 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
High palate, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anterior plagiocephaly, Bicoronal synostosis, Delayed puberty |
OMIM:619718 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short stature, Brachycephaly |
OMIM:301041 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Brachydactyly, Hypospadias, Aganglionic megacolon, Epispadias, Abnorma... |
ORPHA:3339 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms, High palate |
ORPHA:280763 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ... |
OMIM:619428 |
Arboleda-Tham Syndrome |
|
Frontal bossing, Ventricular septal defect, Craniosynostosis, Secundum atrial septal defect, Plag... |
OMIM:616268 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Brachycephaly |
OMIM:618828 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
2-3 toe syndactyly, Lobulated tongue, Low-set ears, Clinodactyly of the 5th finger, Abnormal repe... |
OMIM:613443 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Short stature, Brachycephaly |
OMIM:615663 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Aggressive behavior, 2-3 toe syndactyly, Scoliosis, Attention defici... |
OMIM:619121 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Malabsorption, Renal tubular dysfunction, Aminoaciduria, Nephro... |
ORPHA:213 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral a... |
ORPHA:83617 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Plagiocephaly, Brachycephaly |
ORPHA:495818 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Hypospadias, Hearing impairment, Epispadias, Abnormalit... |
ORPHA:2556 |
Steinfeld Syndrome |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Missing ribs |
OMIM:184705 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Plagiocephaly, Short stature, Brachycephaly |
OMIM:301072 |
Acrodysostosis |
|
Short stature, Brachycephaly, Midface retrusion |
ORPHA:950 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Otitis media, Thickened heli... |
ORPHA:581 |
20Q11.2 Microduplication Syndrome |
|
Trigonocephaly, Brachycephaly, Growth delay, Severe intrauterine growth retardation |
ORPHA:363659 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Patellar aplasia, Hip dislocation, Abnormal shoulder morphology, Fused cer... |
OMIM:274000 |
Snijders Blok-Campeau Syndrome |
|
High palate, Low-set ears, Attention deficit hyperactivity disorder, Scoliosis, Abnormal repetiti... |
OMIM:618205 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Brachycephaly, Mitral valve prola... |
OMIM:611962 |
Down Syndrome |
|
Umbilical hernia, Brachycephaly |
ORPHA:870 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Brachycephaly |
OMIM:612379 |
Megalocornea-Intellectual Disability Syndrome |
|
Tapered finger, Kyphosis, Sensorineural hearing impairment, Protruding ear, High palate, Scoliosi... |
ORPHA:2479 |
Humeroradial Synostosis |
|
Brachycephaly |
OMIM:236400 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Rectal prolapse, Colonic stenosis, Hemoglobinuria, Acute kidney i... |
ORPHA:90038 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Short stature, Proportionate short stature, Broad skull, Patent ductus... |
OMIM:608328 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology, Osteomyelitis |
ORPHA:1163 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Thickened calvaria, Frontal bossing, Ventricular septal defect, Abnormal left ventricle morpholog... |
ORPHA:466791 |
Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Brachycephaly, Ventricular septal defect, Midface retrusion |
OMIM:619229 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Growth delay, Flat occiput, Brachycephaly |
ORPHA:2707 |
Turnpenny-Fry Syndrome |
|
Frontal bossing, Brachycephaly, Mitral valve prolapse, Plagiocephaly, Tricuspid valve prolapse, A... |
OMIM:618371 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Hyperlordosis, Abnormality of the ureter, Protruding ear, Bila... |
ORPHA:3253 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... |
OMIM:619580 |
Lig4 Syndrome |
|
Growth delay, Brachycephaly, Biparietal narrowing |
ORPHA:99812 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Brachycephaly |
ORPHA:364028 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Short stature, Brachycephaly, Growth delay, Dolichocephaly, Atrial sep... |
OMIM:615582 |
Sweeney-Cox Syndrome |
|
Flat occiput, Patent ductus arteriosus, Brachycephaly, Patent foramen ovale, Midface retrusion |
OMIM:617746 |
49,Xxxxy Syndrome |
|
Brachycephaly, Short stature, Holoprosencephaly |
ORPHA:96264 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Fucosidosis |
|
Brachycephaly, Cardiomegaly |
ORPHA:349 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Short stature, Brachycephaly |
ORPHA:562528 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... |
ORPHA:77301 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Frontal bossing, Short stature, Postnatal growth retardation, Brachycephaly, Midface retrusion |
OMIM:156200 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Overlapping toe, Tapered finger, Overfolded helix, 2-3 toe syndactyly, Anteriorly placed anus, Hi... |
OMIM:618653 |
Blue Rubber Bleb Nevus |
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Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... |
ORPHA:818 |
Cleidocranial Dysplasia 2 |
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Plagiocephaly |
OMIM:620099 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Tongue thrusting, Protruding ear, Gastroesophageal reflux, Talipes equinovarus, Scolios... |
OMIM:613454 |
Adenylosuccinase Deficiency |
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Growth delay, Brachycephaly |
OMIM:103050 |
Campomelic Dysplasia |
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Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Patellar hypoplasia, Pectus carina... |
OMIM:114290 |
Dentici-Novelli Neurodevelopmental Syndrome |
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Macrotia, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:619877 |
Myhre Syndrome |
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Abnormal penis morphology, Brachydactyly, Hypospadias, Epispadias, Submucous cleft hard palate, A... |
ORPHA:2588 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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High, narrow palate, Femoral bowing, Anteriorly placed anus, Gastroesophageal reflux, Narrow ches... |
ORPHA:95699 |
Cerebrooculonasal Syndrome |
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Brachycephaly |
ORPHA:66625 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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2-3 toe syndactyly, Short foot, Bruxism, Abnormal repetitive mannerisms, Hearing impairment |
OMIM:616351 |
Congenital Disorder Of Glycosylation, Type Iit |
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Short stature, Brachycephaly |
OMIM:618885 |
Warburg Micro Syndrome 3 |
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Postnatal growth retardation, Brachycephaly |
OMIM:614222 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Frontal bossing, Ventricular septal defect, Short stature, Postnatal growth retardation, Large pl... |
ORPHA:96334 |
Transketolase Deficiency |
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Increased level of ribose in urine, Renal cyst, Self-injurious behavior, Compulsive behaviors, At... |
ORPHA:488618 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Plagiocephaly, Short stature |
OMIM:620083 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
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Postnatal growth retardation, Short stature, Brachycephaly |
OMIM:614800 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Volvulus, Abnormal repetitive m... |
OMIM:617802 |
Familial Visceral Myopathy |
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Low-set, posteriorly rotated ears, Hydroureter, Aganglionic megacolon, Arachnodactyly, Camptodact... |
ORPHA:2604 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Frontal bossing, Short stature, Plagiocephaly, Posterior plagiocephaly, Dolichocephaly, Intrauter... |
OMIM:619841 |
Chromosome 16P13.3 Duplication Syndrome |
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Sacral dimple, Short neck, Pectus excavatum, Hip dislocation, Cervical C5/C6 vertebrae fusion, Ca... |
OMIM:613458 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Flat occiput, Brachycephaly |
OMIM:618797 |
Vesicoureteral Reflux 3 |
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Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Martsolf Syndrome 1 |
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Cardiomyopathy, Short stature, Brachycephaly |
OMIM:212720 |
Ellis Van Creveld Syndrome |
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Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Epispa... |
ORPHA:289 |
Dysostosis, Stanescu Type |
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Short stature, Brachycephaly, Midface retrusion |
ORPHA:1798 |
Bilateral Generalized Polymicrogyria |
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Abnormal repetitive mannerisms, Self-injurious behavior, Gastroesophageal reflux, Oral-pharyngeal... |
ORPHA:208447 |
Helsmoortel-Van Der Aa Syndrome |
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Short stature, Mitral valve prolapse, Abnormal heart morphology, Posterior plagiocephaly, Atrial ... |
OMIM:615873 |
Ring Chromosome 7 Syndrome |
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Short stature, Situs inversus totalis, Brachycephaly, Plagiocephaly, Severe intrauterine growth r... |
ORPHA:1449 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Frontal bossing, Craniosynostosis, Hydrocephalus, Mitral valve prolapse, Dolichocephaly, Umbilica... |
OMIM:182212 |
Sacral Defect With Anterior Meningocele |
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Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Rectal abscess, Urinary retenti... |
OMIM:600145 |
Marshall Syndrome |
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Frontal bossing, Thickened calvaria, Brachycephaly, Short stature |
ORPHA:560 |
Osteogenesis Imperfecta, Type Xi |
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Short stature, Brachycephaly |
OMIM:610968 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Sandal gap, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multiple bladder divertic... |
OMIM:613177 |
Craniofrontonasal Syndrome |
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Frontal bossing, Short stature, Brachycephaly, Umbilical hernia, Coronal craniosynostosis |
OMIM:304110 |
Down Syndrome |
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Ventricular septal defect, Short stature, Complete atrioventricular canal defect, Patent ductus a... |
OMIM:190685 |
Coffin-Siris Syndrome 1 |
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Frontal bossing, Ventricular septal defect, Short stature, Postnatal growth retardation, Tetralog... |
OMIM:135900 |
Interstitial Cystitis |
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Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Non-Syndromic Posterior Hypospadias |
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Ventral shortening of foreskin, Esophageal atresia, Cleft palate, Urethral diverticulum, Displace... |
ORPHA:95706 |
Macrocephaly-Developmental Delay Syndrome |
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Abnormal speech discrimination, Self-injurious behavior, High palate, Clinodactyly of the 5th fin... |
ORPHA:397612 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Turricephaly, Bicuspid aortic valve, Short stature, Craniosynostosis, Paten... |
OMIM:612289 |
White-Sutton Syndrome |
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Midface retrusion, Short stature, Brachycephaly, Abnormal heart morphology |
ORPHA:468678 |
Fryns Syndrome |
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Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Prominent fingertip pa... |
OMIM:229850 |
Duplication Of The Pituitary Gland |
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Encephalocele, Brachyturricephaly, Short stature, Midface retrusion |
ORPHA:314621 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe |
ORPHA:411986 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Lateral clavicle hook, H... |
OMIM:617925 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula, Frontal bossing, Patent ductus arteriosus, Brachycephaly, Midfa... |
ORPHA:861 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Plagiocephaly |
OMIM:618548 |
Osteogenesis Imperfecta |
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Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Craniosynostosis And Dental Anomalies |
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Frontal bossing, Turricephaly, Flat occiput, Short stature, Sagittal craniosynostosis, Scaphoceph... |
OMIM:614188 |
Fibrous Dysplasia Of Bone |
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Abnormal clavicle morphology, Osteomalacia, Abnormal rib morphology, Bone pain, Rickets, Osteolys... |
ORPHA:249 |
Chromosome 17Q12 Deletion Syndrome |
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Pica, Renal cyst, Protruding ear, High palate, Short palm, Long toe, Multicystic kidney dysplasia... |
OMIM:614527 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
2P15P16.1 Microdeletion Syndrome |
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Growth delay, Intrauterine growth retardation, Brachycephaly |
ORPHA:261349 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Renal cyst, Pectus carinatum, Vertebral segmentation defect, Short palm, Hepatoblastoma, Posterio... |
OMIM:312870 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Ventricular septal defect, Short stature, Abnormal heart morphology, Plagiocephaly, Patent forame... |
ORPHA:444077 |
Pfeiffer Syndrome |
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Hydrocephalus, Cloverleaf skull, Brachyturricephaly, Coronal craniosynostosis |
OMIM:101600 |
Momo Syndrome |
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Frontal bossing, Short stature, Brachycephaly |
ORPHA:2563 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal curvature of the vertebral column, Gastroesophageal reflux, Otitis media, Compulsive beh... |
ORPHA:353281 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Ventricular septal defect, Bicuspid aortic valve, Dolichocephaly, Plagiocephaly, Delayed puberty,... |
OMIM:619475 |
Childhood Disintegrative Disorder |
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Abnormal repetitive mannerisms, Urinary incontinence |
ORPHA:168782 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Atrial septal defect, Patent ductus arteriosus, Short stature, Brachycephaly |
OMIM:300968 |
Osteopetrosis With Renal Tubular Acidosis |
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Plagiocephaly, Thickened calvaria, Brachycephaly, Short stature |
ORPHA:2785 |
X-Linked Intellectual Disability, Cantagrel Type |
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Abnormal repetitive mannerisms, Gastroesophageal reflux |
ORPHA:85277 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Short stature, Patent ductus arteriosus, Brachycephaly, Pulmonic stenosis, Atrial septal defect, ... |
OMIM:618223 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Recurrent urinary tract infections, Sacral dimple, Short metacarpal, Brachydactyly, Short neck, R... |
OMIM:617157 |
Acromelic Frontonasal Dysostosis |
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Encephalocele, Brachycephaly, Parietal foramina |
OMIM:603671 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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Hyperactivity, Aggressive behavior, 2-3 toe cutaneous syndactyly, Gastroesophageal reflux, High p... |
OMIM:620242 |
Momo Syndrome |
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Frontal bossing, Brachycephaly |
OMIM:157980 |
Congenital Fibrosis Of Extraocular Muscles |
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Plagiocephaly |
ORPHA:45358 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
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Overlapping toe, Tapered finger, Prominent antihelix, Bilateral talipes equinovarus, Clinodactyly... |
OMIM:617807 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
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Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Monosomy 9P |
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Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial ... |
ORPHA:261112 |
Degcags Syndrome |
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Ventricular septal defect, Craniosynostosis, Plagiocephaly, Pulmonic stenosis, Atrial septal defe... |
OMIM:619488 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, U... |
ORPHA:468631 |
Frank-Ter Haar Syndrome |
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Flat occiput, Ventricular septal defect, Secundum atrial septal defect, Brachycephaly, Mitral val... |
OMIM:249420 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Abnormality of the urina... |
ORPHA:158684 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth retardation... |
OMIM:613355 |
Angelman Syndrome |
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Flat occiput, Brachycephaly |
OMIM:105830 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Lateral clavicle hook, Chronic kidney d... |
OMIM:208500 |
Frontofacionasal Dysplasia |
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Cranium bifidum occultum, Brachycephaly, Hypoplasia of the frontal bone, Midface retrusion |
OMIM:229400 |
Aicardi-Goutières Syndrome |
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Plagiocephaly, Hypertrophic cardiomyopathy, Short stature, Cardiomegaly |
ORPHA:51 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Spina bifida occulta |
ORPHA:488434 |
Trisomy 9P |
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Brachycephaly |
ORPHA:236 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Neurogenic bladder, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Craniosynostosis, Cranial hyperostosis, Brachycephaly, Umbilical her... |
ORPHA:309282 |
Cystic Fibrosis |
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Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesophageal reflux, Steator... |
ORPHA:586 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Leprechaunism |
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Rectal prolapse, Long penis, Hypercalciuria, Megarectum, Nephrocalcinosis, Protruding ear, Large ... |
ORPHA:508 |
Bainbridge-Ropers Syndrome |
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Ulnar deviation of the hand, Posteriorly rotated ears, Intestinal malrotation, Arachnodactyly, Co... |
OMIM:615485 |
Hereditary Acrokeratotic Poikiloderma |
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Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Hearing im... |
ORPHA:2907 |
Orofaciodigital Syndrome Type 4 |
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Micromelia, High, narrow palate, Abnormality of the ear, Conductive hearing impairment, Aplasia/H... |
ORPHA:2753 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphys... |
OMIM:250220 |
Faundes-Banka Syndrome |
|
Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Delayed puberty |
OMIM:619376 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Frontal bossing, Short stature, Brachycephaly |
OMIM:257850 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Plagiocephaly, Craniosynostosis |
ORPHA:1521 |
Oculocerebrorenal Syndrome Of Lowe |
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Protruding ear, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Com... |
ORPHA:534 |
Classical Ehlers-Danlos Syndrome |
|
Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Bladder diverticulum, Shoulder dislocatio... |
ORPHA:287 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Brachydactyly, Hyperactivity, Hypospadias, Posteriorly rotated ears, Overlapping toe, Tapered fin... |
OMIM:309590 |
Alg9-Cdg |
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Frontal bossing, Ventricular septal defect, Rhizomelia, Pericardial effusion, Brachycephaly, Abno... |
ORPHA:79328 |
Warburg Micro Syndrome 2 |
|
Postnatal growth retardation, Brachycephaly |
OMIM:614225 |
Prader-Willi Syndrome Due To Translocation |
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Overlapping toe, Abnormality of the kidney, Short neck, Abnormal repetitive mannerisms, Small han... |
ORPHA:177907 |
Exstrophy-Epispadias Complex |
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Abnormality of the gastrointestinal tract, Renal insufficiency, Bladder fistula, Anal stenosis, U... |
ORPHA:322 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Patent ductus arteriosus, Brachycephaly, Abnormal heart morphology, Atrial sept... |
ORPHA:369837 |
Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect, Brachycephaly, Craniosynostosis |
OMIM:611174 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Missing ribs, External ear malformation, Aplasia/Hypoplasia of the distal phal... |
ORPHA:1647 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplasm of the r... |
ORPHA:556 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... |
ORPHA:3016 |
Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
Developmental And Epileptic Encephalopathy 66 |
|
Clinodactyly of the 5th finger, Abnormal repetitive mannerisms |
OMIM:618067 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Ebstein anomaly of the tricuspid valve, Brachycephaly |
OMIM:608980 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... |
OMIM:619991 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Abnormal repetitive mannerisms, Congenital sensorineural hearing impairment |
ORPHA:79155 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Frontal bossing, Short stature, Brachycephaly, Mitral valve prolapse |
OMIM:259600 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Malabsorption, Hepatocellular carcinoma, Neoplasm of... |
ORPHA:440437 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Severe short stature, Brachycephaly |
OMIM:156400 |
Carpenter Syndrome 2 |
|
Frontal bossing, Dextrocardia, Trigonocephaly, Craniosynostosis, Situs inversus totalis, Patent d... |
OMIM:614976 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnor... |
OMIM:118450 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Frontal bossing, Ventricular septal defect, Scaphocephaly, Brachycephaly, Posterior plagiocephaly... |
OMIM:620330 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Mild postnatal growth retardation, Brachycephaly, Delayed puberty |
ORPHA:456312 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Brachycephaly, Atrial septal defect, Umbilic... |
ORPHA:1519 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Posteriorly rotated ears, Hyperlordosis, Tapered finger, Aggressive behavior, Cleft palate, Genu ... |
OMIM:301066 |
Ulbright-Hodes Syndrome |
|
Short neck, Ovoid thoracolumbar vertebrae, High palate, Abnormal penis morphology, Short metacarp... |
ORPHA:3404 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gastroesophageal reflux |
OMIM:301094 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Brachycephaly, Short stature |
OMIM:244450 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Microt... |
OMIM:301030 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Microtia, third degree, Hypospadias, Posteriorly rotated ears, Aplastic clav... |
ORPHA:2554 |
48,Xxxy Syndrome |
|
Brachycephaly |
ORPHA:96263 |
Peters Plus Syndrome |
|
Frontal bossing, Short stature, Rhizomelia, Postnatal growth retardation, Patent ductus arteriosu... |
ORPHA:709 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, High palate, Clinodactyly of the 5th finger, Small earl... |
OMIM:619522 |
Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, Gastroesophageal ... |
ORPHA:138 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, High palate, Long ear, Foot oligodac... |
OMIM:276820 |
19P13.13 Microdeletion Syndrome |
|
Brachycephaly, Dolichocephaly |
ORPHA:357001 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mannerisms... |
OMIM:615802 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Small hand, Short foot, Gastroesophageal reflux, Scoliosis, Abnormal repetitive m... |
OMIM:300672 |
Cree Mental Retardation Syndrome |
|
Brachycephaly |
OMIM:606851 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly |
OMIM:619244 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Abnormal repetitive mannerisms |
ORPHA:228384 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, A... |
ORPHA:2908 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence |
ORPHA:2795 |
Lig4 Syndrome |
|
Brachycephaly |
OMIM:606593 |
Coffin-Siris Syndrome 12 |
|
Protruding ear, High palate, Gastroesophageal reflux, Abnormal repetitive mannerisms, Simple ear,... |
OMIM:619325 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Xerostomia, Anteriorly placed anus, Ureterocele, Vesicoureteral reflux, ... |
OMIM:604292 |
Doors Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Sirenomelia, Prominent occiput, Double... |
ORPHA:79500 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... |
ORPHA:424016 |
Cartilage-Hair Hypoplasia |
|
Absent pubertal growth spurt, Neonatal short-limb short stature, Brachycephaly |
OMIM:250250 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Brachycephaly |
ORPHA:2988 |
X-Linked Intellectual Disability, Armfield Type |
|
Short stature, Patent ductus arteriosus, Brachycephaly, Abnormal cardiac septum morphology, Midfa... |
ORPHA:85276 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Short stature, Postnatal growth retardation, Brachycephaly, Delayed puberty, Midface retrusion |
OMIM:616263 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thickened calvaria, Brachycephaly, Short stature |
OMIM:309583 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Neoplasm of the rectum, Colon c... |
ORPHA:144 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Scoliosis |
ORPHA:457351 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... |
ORPHA:79403 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly, Short stature, Midface retrusion |
ORPHA:3042 |
Ayme-Gripp Syndrome |
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Pericarditis, Short stature, Brachycephaly, Craniofacial asymmetry, Midface retrusion |
OMIM:601088 |
Cornelia De Lange Syndrome 1 |
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Intrauterine growth retardation, Ventricular septal defect, Brachycephaly, Short stature |
OMIM:122470 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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High, narrow palate, Sensorineural hearing impairment, Head-banging, Hematochezia, Renal tubular ... |
OMIM:619575 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Plagiocephaly |
ORPHA:457284 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Lumbar hyperlordosis, Equinus calcaneus, Repetitive compulsive behavior, 2-3 toe syndactyly, Self... |
ORPHA:522077 |
Hereditary Orotic Aciduria |
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Low-set, posteriorly rotated ears, Orotic acid crystalluria, Abnormality of the ureter, Aminoacid... |
ORPHA:30 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal curvature of the vertebral column, High palate, Gastroesophageal reflux, Otitis media, C... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal curvature of the vertebral column, High palate, Gastroesophageal reflux, Otitis media, C... |
ORPHA:353277 |
Rett Syndrome |
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Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, Scoliosis |
ORPHA:778 |
6Q Terminal Deletion Syndrome |
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Plagiocephaly, Dolichocephaly |
ORPHA:75857 |
Meckel Syndrome, Type 1 |
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Hypoplasia of the bladder, Bowing of the long bones, Syndactyly, Renal agenesis, Intestinal malro... |
OMIM:249000 |
Toxic Epidermal Necrolysis |
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Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Malabsorption, Abnormality of the uret... |
ORPHA:537 |
Elsahy-Waters Syndrome |
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Pectus excavatum, Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Trichorhinophalangeal Syndrome, Type Ii |
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Bicuspid aortic valve, Mild postnatal growth retardation, Partial anomalous pulmonary venous retu... |
OMIM:150230 |
Cystic Fibrosis |
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Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Clubbing of fingers, Steatorrhea |
OMIM:219700 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Distal Deletion 12Q |
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Frontal bossing, Short stature, Patent ductus arteriosus, Brachycephaly, Growth delay, Congenital... |
ORPHA:96149 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
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Abnormality of the urethra |
ORPHA:752 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
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Frontal bossing, Short stature, Brachycephaly |
OMIM:616728 |
Bladder Exstrophy And Epispadias Complex |
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Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... |
OMIM:600057 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Caudal Duplication Anomaly |
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Ureteral duplication |
OMIM:607864 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Brachycephaly |
OMIM:156610 |
Cerebral Creatine Deficiency Syndrome 1 |
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Aganglionic megacolon, Aggressive behavior, Ileus, Underfolded superior helices, Attention defici... |
OMIM:300352 |
Charge Syndrome |
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Hemivertebrae, Hand monodactyly, Micropenis, Self-mutilation, Hypoplasia of the ulna, Aplasia of ... |
OMIM:214800 |
Congenital Tracheal Stenosis |
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Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
Developmental And Epileptic Encephalopathy 100 |
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Protruding tongue, Bilateral camptodactyly, Small hand, Gastroesophageal reflux, High palate, Sco... |
OMIM:619777 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Brachycephaly, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, Umbilical h... |
OMIM:601776 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Proteinuria, Intestinal malrotation, Overlapping toe, Hiatus hernia, Gastroesophageal reflux, Sco... |
OMIM:616682 |
Li-Fraumeni Syndrome |
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Renal neoplasm, Neoplasm of the rectum, Colon cancer, Colorectal polyposis, Neoplasm of the gastr... |
ORPHA:524 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
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Growth delay, Brachycephaly |
OMIM:601353 |
Arthrogryposis And Ectodermal Dysplasia |
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Short stature, Brachycephaly |
OMIM:601701 |
Branchioskeletogenital Syndrome |
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Umbilical hernia, Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:1299 |
Pfeiffer Syndrome Type 3 |
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Aqueductal stenosis, Brachyturricephaly, Midface retrusion |
ORPHA:93260 |
Immunodeficiency 40 |
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Recurrent otitis media, Focal active colitis, Rectal fistula |
OMIM:616433 |
Chime Syndrome |
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Ventricular septal defect, Brachycephaly, Tetralogy of Fallot, Transposition of the great arterie... |
ORPHA:3474 |
Trisomy 18 |
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Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormality of the upper urinary trac... |
ORPHA:3380 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Frontal bossing, Mitral valve calcification, Short stature, Postnatal growth retardation, Brachyc... |
OMIM:619127 |
Craniofacial Microsomia 1 |
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Block vertebrae, Hemivertebrae, Genu valgum, Cervical ribs, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Patent ductus arteriosus, Flat occiput, Ventricular septal defect, Brachyturricephaly |
OMIM:214100 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:168491 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Aggressive behavior, Kyphosis, B... |
OMIM:309000 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Frontal bossing, Brachycephaly |
ORPHA:1236 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Aggressive behavior, Hair-pulling, Self-injurious behavior, High palate, Talipes equinovarus, Low... |
OMIM:616393 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon |
OMIM:619431 |
Congenital Myopathy 13 |
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Short stature, Brachycephaly, Midface retrusion |
OMIM:255995 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Brachycephaly, Growth dela... |
ORPHA:2072 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
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Frontal bossing, Brachycephaly |
OMIM:616078 |
Atresia Of Urethra |
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Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Roberts Syndrome |
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Postnatal growth retardation, Brachycephaly, Severe intrauterine growth retardation, Craniosynost... |
ORPHA:3103 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Frontal bossing, Turricephaly, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ... |
OMIM:612474 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Frontal bossing, Short stature, Brachycephaly |
ORPHA:1974 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Acrofrontofacionasal Dysostosis 1 |
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Short stature, Brachycephaly |
OMIM:201180 |
Progressive Non-Infectious Anterior Vertebral Fusion |
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Brachycephaly |
ORPHA:2062 |
Hallermann-Streiff Syndrome |
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Frontal bossing, Brachycephaly, Proportionate short stature |
ORPHA:2108 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Abnormal repetitive mannerisms, Abnormal fingertip morphology |
ORPHA:529965 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Urinary incontinence, Hair-pulling, Protruding ear, Gastroesophageal reflux, Low-s... |
ORPHA:447997 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Brachycephaly |
ORPHA:521445 |
Microphthalmia, Syndromic 6 |
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Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion |
OMIM:607932 |
Stevens-Johnson Syndrome |
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Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal... |
ORPHA:36426 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Short stature, Situs inversus totalis, Brachycephaly, Atrial septal de... |
OMIM:309500 |
Ogden Syndrome |
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Global glomerulosclerosis, Sandal gap, Broad hallux, Short neck, Pectus excavatum, Long fingers, ... |
OMIM:300855 |
Mowat-Wilson Syndrome |
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Urinary incontinence, Uplifted earlobe, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo... |
ORPHA:2152 |
Roberts-Sc Phocomelia Syndrome |
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Ventricular septal defect, Craniosynostosis, Postnatal growth retardation, Patent ductus arterios... |
OMIM:268300 |
Wiedemann-Rautenstrauch Syndrome |
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Frontal bossing, Short stature, Secundum atrial septal defect, Hydrocephalus, Brachycephaly, Intr... |
OMIM:264090 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Small earlobe, Posteriorly rotated ears, Tapered finger, Overfolded helix, Gastroesophageal reflu... |
OMIM:617330 |
Mucopolysaccharidosis Type 2 |
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Otosclerosis, Irregularity of vertebral bodies, Hyperactivity, Impulsivity, Aggressive behavior, ... |
ORPHA:580 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Pectus carin... |
ORPHA:261537 |
X-Linked Intellectual Disability, Snyder Type |
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Short stature, Brachycephaly |
ORPHA:3063 |
Pilarowski-Bjornsson Syndrome |
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Prominent fingertip pads, Abnormal repetitive mannerisms |
OMIM:617682 |
Fraser Syndrome |
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Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:2052 |
Primrose Syndrome |
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Restlessness, Calcification of the auricular cartilage, Aggressive behavior, Pectus excavatum, Ky... |
OMIM:259050 |
Congenital Disorder Of Deglycosylation 1 |
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Brachycephaly, Midface retrusion |
OMIM:615273 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Growth delay, Short stature, Brachycephaly |
OMIM:619950 |
14Q22Q23 Microdeletion Syndrome |
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Short stature, Brachycephaly |
ORPHA:264200 |
Viss Syndrome |
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Frontal bossing, Ventricular septal defect, Short stature, Coronary sinus enlargement, Patent duc... |
OMIM:619472 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Short ear, Short palm, Hyperactivity, Posteriorly rotated ears, Hiatus hernia, Aggressive behavio... |
OMIM:614756 |
Mismatch Repair Cancer Syndrome 3 |
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Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Igg4-Related Kidney Disease |
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Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Cornelia De Lange Syndrome |
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Ventricular septal defect, Short stature, Brachycephaly, Severe postnatal growth retardation, Del... |
ORPHA:199 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Posteriorly rotated ears, Broad hallux, 1-2 toe syndactyly, Tapered finger, Clinodactyly, Small h... |
OMIM:301044 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Urinary incontinence, Uplifted earlobe, Cleft hard palate, Calcaneovalgus deformity, Pectus carin... |
ORPHA:261552 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Frontal bossing, Ventricular septal defect, Mitral atresia, Dolichocephaly, Muscular ventricular ... |
OMIM:619503 |
Common Variable Immunodeficiency |
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Brachycephaly |
ORPHA:1572 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morphology, Reduced bone mineral d... |
ORPHA:667 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Short stature, Patent ductus arteriosus, Brachycephaly, Cardiomyopathy, Delayed puberty, Atrial s... |
ORPHA:480880 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Short stature, Brachycephaly |
OMIM:610442 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Urachal cyst, Rectal abscess |
OMIM:608203 |
Pagod Syndrome |
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Abnormal clavicle morphology, Multicystic kidney dysplasia, Abnormal rib morphology, Renal hypopl... |
ORPHA:991 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Metatarsus adductus, Repetitive compulsive behavior, Osteopathia striata, Abnormal Eustachian tub... |
ORPHA:513456 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal abscess, Intesti... |
ORPHA:436252 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Frontal bossing, Cloverleaf skull, Craniosynostosis, Brachycephaly, Midface retrusion |
OMIM:201750 |
Aspartylglucosaminuria |
|
Thickened calvaria, Brachycephaly, Short stature |
OMIM:208400 |
Norrie Disease |
|
Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh... |
ORPHA:649 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Rectal abscess |
OMIM:601495 |
Leukocyte Adhesion Deficiency, Type I |
|
Rectal abscess |
OMIM:116920 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Rectal abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Rectal abscess |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Rectal abscess |
OMIM:306400 |
Carney Complex |
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Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellular carcinoma, T... |
ORPHA:1359 |
Nmda Receptor Encephalitis |
|
Hypersexuality, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma |
OMIM:114550 |