Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
22q11 duplication syndrome |
|
Telecanthus |
DECIPHER:32 |
Oculomotor-Levator Synkinesis |
|
Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Recurrent respiratory infections, Epicanthus, Cataract, Small for gestational age, Short stature,... |
ORPHA:85288 |
Kniest Dysplasia |
|
Arthropathy, Rhegmatogenous retinal detachment, Enlarged joints, Short neck, Delayed epiphyseal o... |
ORPHA:485 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block verteb... |
OMIM:277300 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis, Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Lens subluxation, Short neck |
ORPHA:3456 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert... |
ORPHA:1436 |
Lamb-Shaffer Syndrome |
|
Epicanthus, Mild postnatal growth retardation, Optic atrophy, Fused cervical vertebrae, Thoracic ... |
ORPHA:530983 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... |
ORPHA:79127 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Cachexia, Abnormal re... |
ORPHA:60033 |
Atelis Syndrome 2 |
|
Sacral dimple, Epicanthus, Remnants of the hyaloid vascular system, Kyphosis, Developmental catar... |
OMIM:620185 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... |
ORPHA:93296 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae |
OMIM:309620 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Hamstring contractures, Retinal dysplasia, Patellar dislocation, Oste... |
ORPHA:96183 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Short stature, Genu recurvatum, Interphalangeal joint contractur... |
OMIM:151200 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral... |
OMIM:616549 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, In... |
OMIM:617333 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Gorlin Syndrome |
|
Vertebral fusion, Epicanthus, Telecanthus, Cataract, Hemivertebrae, Vertebral wedging, Scoliosis,... |
ORPHA:377 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Synophrys, Lens coloboma, Microcornea, ... |
OMIM:619539 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Cataract, Short stature, Genu valgum, Irregular vertebral endplates, Platyspo... |
ORPHA:250984 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Ptosis |
ORPHA:2522 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, Leukocoria,... |
ORPHA:2714 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Small for gestational age, Optic nerve hypoplasia, Short stature,... |
OMIM:615583 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Camptodactyly of finger, Short neck, Abnormality iris morpho... |
ORPHA:1617 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... |
ORPHA:1164 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:312150 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Cervical C2/C3 vertebral fusion, Short stature, Short palpebral fissure |
ORPHA:370010 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... |
OMIM:178110 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Growth delay, Central posterior ... |
OMIM:244600 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... |
ORPHA:2345 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:253290 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex... |
ORPHA:90653 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Retinal thinning, Short statur... |
ORPHA:166011 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Thoracic scoliosis, Cataract, Short stature, Macular atrophy, Optic atrophy, M... |
OMIM:616171 |
Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Short stature, Short neck, Sy... |
ORPHA:2332 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Flexion contracture, ... |
OMIM:300166 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Wide anterior fontanel, Hemiverteb... |
OMIM:113000 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat... |
OMIM:122600 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, Scoliosis, Butter... |
ORPHA:313892 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Scoliosis, Developmental cataract |
OMIM:246000 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delay... |
OMIM:618392 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Cataract, Retinal dystrophy,... |
ORPHA:168549 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Osteoarthrit... |
OMIM:618000 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... |
OMIM:616726 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Growth delay, Pulmonary fibrosis, Scoliosis, Delayed ... |
OMIM:615704 |
Kahrizi Syndrome |
|
Cataract, Short stature, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris col... |
OMIM:612713 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract, Short stature, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial ab... |
ORPHA:3433 |
Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Accelerated skeletal maturation, Kyphosis, Synophrys, Osteopor... |
OMIM:617190 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Astigmatism, Decreas... |
OMIM:609053 |
Chops Syndrome |
|
Cataract, Short stature, Synophrys, Optic atrophy, Obesity, Anomalous pulmonary venous return, Lo... |
OMIM:616368 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Kyphosis, Joint hyperflexibility, Cubitus valgus, Ptosis |
ORPHA:1875 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Short stature, Camptodact... |
ORPHA:1466 |
Acromelic Frontonasal Dysostosis |
|
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Patellar hypoplasia... |
OMIM:603671 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Short stature, Flat acetabular roof, Upslanted palpebral fissure, Fused cervical vert... |
OMIM:617159 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Epicanthus, Short stature, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal... |
ORPHA:2916 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Cataract,... |
ORPHA:2635 |
Aarskog-Scott Syndrome |
|
Epicanthus, Short stature, Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexi... |
ORPHA:915 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Epicanthus, Increased bone mineral density, Cataract, Ovoid vertebral bodies,... |
ORPHA:163649 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Astigmatism, Lumbar scoli... |
OMIM:617796 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short s... |
ORPHA:85194 |
Asbestos Intoxication |
|
Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Osteolysis, Fused cervical vertebrae, Jo... |
OMIM:612852 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Postnatal growth retardation, Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
Frontometaphyseal Dysplasia 1 |
|
Dislocated radial head, Limited elbow movement, Interphalangeal joint contracture of finger, Ankl... |
OMIM:305620 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Cataract, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Dis... |
ORPHA:1856 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Cataract, Short stature, Hypoplasia of the odontoid process, Pl... |
ORPHA:85172 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617404 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Os odontoideum, Optic disc pallor, Cataract, Short stature, Macular coloboma, Macular atrophy, Ge... |
OMIM:619260 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Small for gestational age, Optic atrophy, Growth delay, Exudative vitreoretinopathy, Scoliosis |
OMIM:615075 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Short stature, Hip dislocation, Spinal canal stenosis, Genu va... |
ORPHA:436174 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Duane-Radial Ray Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Fused cervical vertebrae, Shoulder dislocation, Reti... |
OMIM:607323 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Optic disc hypoplasia, Postnatal growth retardation, Opti... |
ORPHA:959 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... |
OMIM:616108 |
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 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Short stature, Scoliosis |
ORPHA:1445 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Epicanthus, Cataract, Delayed skeletal maturation, Chorioretinal coloboma, Intrauterine growth re... |
ORPHA:2489 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increase... |
OMIM:136300 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Short stature, Camptodactyly of finger, Kyphosis, Osteoporosis, Microcornea, Long eyela... |
ORPHA:48431 |
Stickler Syndrome, Type I |
|
Arthropathy, Retinal detachment, Cataract, Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, ... |
OMIM:108300 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... |
OMIM:612387 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Prominent metopic ridge, Small for gestational age, Wormian bones, Highly arched eyeb... |
OMIM:614541 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Retinal dystrophy, Short stature, Postnatal growth re... |
OMIM:616651 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Short stature, Kyphosis, Hip dislocation, Upslanted palpe... |
ORPHA:96169 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Abnormality of retinal pigmentation, Cataract, Block vertebrae, Tarsal synostos... |
OMIM:272460 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Thoracic scoliosis, Cervical hemivertebrae, Short stature, Optic nerve hypopla... |
ORPHA:508498 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Cataract, Short neck, Platyspondyly, Intrauterine growth retardation, Failure to thrive, Ptosis |
OMIM:618958 |
Wagr Syndrome |
|
Cataract, Short stature, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis, Ptosis |
ORPHA:893 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Rhizomelic Chondrodysplasia Punctata |
|
Epicanthus, Cataract, Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epip... |
ORPHA:177 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
Hypomelanosis Of Ito |
|
Epicanthus, Cataract, Kyphosis, Scoliosis, Iris coloboma |
OMIM:300337 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Ptosis, Small for gestational age, Epicanthus, Short stature, Pr... |
OMIM:610443 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... |
ORPHA:2902 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... |
OMIM:613686 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Short neck, Large for gestationa... |
OMIM:213980 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Short ... |
ORPHA:35173 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Hyperlordosis, Kyphosis, Delayed sk... |
ORPHA:3085 |
Thakker-Donnai Syndrome |
|
Short neck, Hemivertebrae, Upslanted palpebral fissure, Long palpebral fissure, Cervical C2/C3 ve... |
ORPHA:1780 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Upslanted palpebral fissure, Fused cervical ve... |
ORPHA:1724 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Cataract, Short stature, Optic nerve hypoplasia, Sclerocor... |
OMIM:206900 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Retinal dystrophy, Short stature, Postnatal growth re... |
ORPHA:353298 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Cataract, Joint stiffness, Osteoarthritis, Platyspondyly... |
ORPHA:1345 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Scoliosis, Chorioretinal coloboma, Cyclopia, Iris coloboma |
OMIM:157170 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Scoliosis, M... |
ORPHA:171844 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C... |
ORPHA:79345 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Short neck, Blepharophimosis, Abnormal pupil morpho... |
ORPHA:233 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Retinal detachment, Joint laxity, Short stature, Corneal opacity, Osteoporosis, Abnor... |
ORPHA:2788 |
Apert Syndrome |
|
Corneal erosion, Optic atrophy, Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect, D... |
ORPHA:87 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Short stature, Butterfly vertebrae |
OMIM:619227 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Flexion contracture of the 4... |
ORPHA:2712 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short n... |
OMIM:183900 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Telecanthus, Short stature, Short neck, Kyphosis, Sclerosis of skull base, Scol... |
OMIM:130720 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy, Scoliosis, Ptosis |
OMIM:619527 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Scoliosis, Chorioretinal coloboma, Failure to th... |
ORPHA:163937 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Baralle-Macken Syndrome |
|
Upslanted palpebral fissure, Kyphosis, Cataract, Obesity |
OMIM:619255 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short stature, Cervical kyphosis, Corneal opacity, Elbow dislocat... |
OMIM:150250 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Cataract, Rhizomelia, Optic nerve hypoplasia, Disproportionate short stature, Flexion... |
OMIM:222765 |
Distal Duplication 6P |
|
Sacral dimple, Cataract, Short stature, Short neck, Abnormal eyelash morphology, Abnormal lung lo... |
ORPHA:1745 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Short neck, Optic atrophy, Punctate vertebral calcifications, Epiphyseal stippling, Int... |
ORPHA:1914 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Block vertebrae, Postnatal growth retardation, Chorioretinal lacuna... |
OMIM:304050 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... |
ORPHA:79126 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o... |
OMIM:313400 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, R... |
ORPHA:2611 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1354 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Short neck, Microcornea, Wrist flexion contracture... |
OMIM:255800 |
Three M Syndrome 1 |
|
Joint dislocation, Small for gestational age, Short stature, Joint hypermobility, Hyperlordosis, ... |
OMIM:273750 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Cataract, Tarsal synostosis, Camptodactyly of ... |
ORPHA:90652 |
Stickler Syndrome, Type Ii |
|
Arthropathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hypermobility |
OMIM:604841 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Cardiofaciocutaneous Syndrome 4 |
|
Joint laxity, Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, ... |
OMIM:615280 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Codas Syndrome |
|
Epicanthus, Congenital hip dislocation, Short stature, Cataract, Delayed skeletal maturation, Abn... |
ORPHA:1458 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Short stature, Short neck, Synophrys, Delayed skeletal maturation,... |
OMIM:148050 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... |
OMIM:193700 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Cataract, Short stature, Optic atrophy, Upslan... |
OMIM:619833 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Catarac... |
ORPHA:1427 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
3Mc Syndrome |
|
Ptosis, Telecanthus, Highly arched eyebrow, Hyperlordosis, Postnatal growth retardation, Craniosy... |
ORPHA:293843 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short stature, Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar syn... |
OMIM:171480 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Alpha-Mannosidosis |
|
Recurrent respiratory infections, Cataract, Corneal opacity, Short neck, Kyphosis, Delayed skelet... |
ORPHA:61 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth re... |
OMIM:608940 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Postnatal growth retardation, Contracture of the distal interphalangeal joint of the ... |
ORPHA:83617 |
Kniest Dysplasia |
|
Retinal detachment, Hip contracture, Enlarged joints, Rhizomelia, Cataract, Short neck, Delayed e... |
OMIM:156550 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Pulmonary hypopl... |
ORPHA:3027 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Abnormal vertebral morphology, Scoliosis, Cataract |
ORPHA:64754 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Optic atrophy, ... |
OMIM:609033 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... |
ORPHA:70588 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Joint contracture, Cataract, Optic atrophy, Scoliosis |
OMIM:617481 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Hypophosphatasia |
|
Emphysema, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:436 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis,... |
OMIM:259770 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Epicanthus, Telecanthus, Short stature, Tarsal synostosis, Delayed skeletal maturat... |
OMIM:157800 |
Srd5A3-Cdg |
|
Cataract, Optic disc hypoplasia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Coloboma, R... |
ORPHA:324737 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumo... |
ORPHA:2257 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, Sc... |
ORPHA:496790 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Cataract, Kyphoscoliosis, Hemivertebrae, Orbital cyst, Vertebral wedging, Irreg... |
OMIM:109400 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Respiratory insufficiency, Abnormal aortic morphology |
ORPHA:1166 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Ritscher-Schinzel Syndrome 3 |
|
Highly arched eyebrow, Postnatal growth retardation, Wide anterior fontanel, Poorly ossified vert... |
OMIM:619135 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Short stature, Cataract, Highly arched eyebrow, Synophrys, Obesity, Long eyelashes... |
ORPHA:444077 |
Atelosteogenesis, Type I |
|
Rhizomelia, Short neck, Thoracic platyspondyly, Elbow dislocation, Fused cervical vertebrae, Coro... |
OMIM:108720 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Wide anterior fontanel, Optic atrop... |
ORPHA:44 |
Flynn-Aird Syndrome |
|
Cataract, Cachexia, Joint stiffness, Kyphosis, Scoliosis, Rod-cone dystrophy |
ORPHA:2047 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Cataract, Short stature, Short neck, Narrow palpebral fissure, Astigmatism, Retinal c... |
OMIM:618571 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Pulmonary hypoplasia, Scoliosis, Su... |
OMIM:271520 |
Sialidosis Type 1 |
|
Cataract, Short stature, Corneal opacity, Kyphosis, Delayed skeletal maturation, Abnormal form of... |
ORPHA:812 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Developmental catar... |
OMIM:610756 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Rhizomelia, Kyphoscoliosis, Short neck, Sparse eyebrow, Postnatal gro... |
OMIM:302960 |
Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Postnatal growth retardation, Flexion contracture, Optic atrophy, Devel... |
OMIM:614222 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op... |
ORPHA:50 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
Marden-Walker Syndrome |
|
Epicanthus, Short neck, Postnatal growth retardation, Kyphosis, Wide anterior fontanel, Congenita... |
OMIM:248700 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Trisomy 13 |
|
Cataract, Abnormal retinal vascular morphology, Kyphosis, Abnormal eyelash morphology, Optic atro... |
ORPHA:3378 |
Apert Syndrome |
|
Limited elbow movement, Sagittal craniosynostosis, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Stickler Syndrome |
|
Joint dislocation, Osteoarthritis, Bone pain, Abnormal form of the vertebral bodies, Reduced bone... |
ORPHA:828 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Short stature, Genu valgum, Asteroid hyalosis |
OMIM:132450 |
Aspergillosis |
|
Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Dacryocystitis, Vitritis, Bron... |
ORPHA:1163 |
Myhre Syndrome |
|
Vertebral fusion, Cataract, Small for gestational age, Short stature, Short neck, Joint stiffness... |
OMIM:139210 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Vertebral segmentation defect, Scoliosis, Long pa... |
ORPHA:531151 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Camptod... |
OMIM:617137 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism, Scoliosis |
OMIM:612285 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Accelerated skeletal maturation, Flexion contracture, Anterior beaking of lumbar vert... |
OMIM:253220 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Cataract, Disproportionate short-limb short stature, Pulmonary hypoplasia, ... |
OMIM:224410 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Epicanthus, Short neck, Synophrys, Tracheobronchomalacia, Hip dislocation, Cervica... |
OMIM:613458 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Abnormal lung lobation, Optic atr... |
ORPHA:3301 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Hypoplastic sacrum, Short stature, Thoracolumbar scoliosis, Short... |
OMIM:268310 |
Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Iris coloboma, Vertebral fusion, Short stature, Highly arc... |
OMIM:194190 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Jaberi-Elahi Syndrome |
|
Cataract, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Optic atrophy, Scoliosis, ... |
OMIM:617988 |
Papillorenal Syndrome |
|
Joint laxity, Retinal detachment, Cataract, Short stature, Morning glory anomaly, Lens luxation, ... |
OMIM:120330 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Epicanthus, Congenital hip dislocation, Short sta... |
ORPHA:2962 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Flexion contracture, Coloboma, Scoliosis, Retinal degeneration |
OMIM:615249 |
Cenani-Lenz Syndrome |
|
Ptosis, Cataract, Elbow dislocation, Hip dislocation, Abnormal form of the vertebral bodies, Radi... |
ORPHA:3258 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... |
OMIM:620233 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Joint stiffness, Kyphosis, Optic at... |
ORPHA:2510 |
Microphthalmia, Lenz Type |
|
Cataract, Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, A... |
ORPHA:568 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Postnatal growth retardation, Respiratory infections in early life, Contractures of the large joi... |
ORPHA:96179 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Osteomyelitis, Cataract, ... |
ORPHA:88628 |
Pseudopseudohypoparathyroidism |
|
Cataract, Short stature, Short neck, Osteoporosis, Obesity |
OMIM:612463 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Abnormality of the vertebral column, Short stature, Cataract |
OMIM:302950 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Emphysema, Failure to... |
OMIM:242700 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ptosis, Cataract, Short stature, Corneal opacity, Patellar aplasia, Hip dislocation, Fused cervic... |
OMIM:274000 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the pulmonary artery |
ORPHA:895 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Abnormal retinal vascular morpholog... |
ORPHA:2715 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Ptosis, Congenital hip dislocation, Short stature, Joint hypermobility, Cataract, Hyp... |
OMIM:616007 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Highly arched eyebrow, Postnatal... |
OMIM:257920 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnatal growth retardatio... |
OMIM:616294 |
3Mc Syndrome 2 |
|
Highly arched eyebrow, Blepharophimosis, Postnatal growth retardation, Limited elbow movement, Cr... |
OMIM:265050 |
Marshall Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Short stature, Lens luxation, Knee osteoarthritis, Plat... |
OMIM:154780 |
Elsahy-Waters Syndrome |
|
Cataract, Synophrys, Increased cup-to-disc ratio, Cervical C2/C3 vertebral fusion, Megalocornea, ... |
OMIM:211380 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Postna... |
OMIM:612394 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Short stature, Microcornea, Coloboma, Iris transillumin... |
OMIM:617306 |
Saul-Wilson Syndrome |
|
Cataract, Short stature, Postnatal growth retardation, Wide anterior fontanel, Hypoplasia of the ... |
OMIM:618150 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Epicanthus, Telecanthus, Band keratopathy, Chorioretinal a... |
OMIM:267750 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Short stature, Delayed skeletal maturation, Posterior subcapsu... |
OMIM:616200 |
Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Hypoplasia of the iris, Emphysema, Slender build, Osteoporosi... |
ORPHA:558 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Short neck, Growth delay, Pigmentary retinopathy, Camptodacty... |
OMIM:614230 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Short stature, Ectopia lentis, Sparse eyebrow, Os... |
ORPHA:560 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Cubitus valgus, Brushfield spots, Optic nerve dysplasia, U... |
OMIM:214110 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Proportionate short stature, Hyperextensible hand joints, Camptodactyly, Long p... |
OMIM:227330 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Short stature, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ... |
ORPHA:1791 |
Kapur-Toriello Syndrome |
|
Cataract, Camptodactyly of finger, Short neck, Retinal coloboma, Scoliosis, Intrauterine growth r... |
OMIM:244300 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Abnormal form of the vertebral bodies, Cherry red spot ... |
ORPHA:93399 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Flat cornea, Protrusio acetabuli, Pneumothorax, Joint hyperflexibility, Scoliosis, ... |
OMIM:614816 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Abnormal size of the palpebral fissures, Camptodactyly of finger, Corneal dystrophy, Abnormal vit... |
ORPHA:1101 |
Intermediate Uveitis |
|
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Macular edema, Optic neuriti... |
ORPHA:279914 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Keratitis, Abnormal pupil morphology, Vitritis, Abnormal vitreous humor morphology, Ret... |
ORPHA:209959 |
3Q29 Microduplication Syndrome |
|
Cataract, Craniosynostosis, Short neck, Sclerocornea, Camptodactyly of toe, Obesity, Aniridia, Do... |
ORPHA:251038 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Mevalonic Aciduria |
|
Optic disc pallor, Cataract, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Nuclear... |
OMIM:610377 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Abnormal eyebrow morphology, Cataract, Short stature, Abnormal eyelash morpho... |
ORPHA:3437 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Obesity, Truncal obesity, Astigmatism, Rod-con... |
OMIM:615986 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Kyphoscoliosis, Developmental glaucoma, Optic atrophy, Buphthalmos, Scoliosis, Ptosis |
ORPHA:99956 |
Harrod Syndrome |
|
Cataract, Kyphosis, Joint hyperflexibility, Scoliosis, Intrauterine growth retardation, Failure t... |
ORPHA:2115 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Wormian bones, Small for gestational age, Sparse eyelashes, Pro... |
OMIM:234100 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Flexion contracture, Hemivertebrae, Emphysema, Genu varum, Joint laxity, Absent ... |
OMIM:224690 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract |
OMIM:601794 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Genu recurvatum, Abnormal pupil morphology, Limbal dermoid, Broncho... |
ORPHA:2969 |
Werner Syndrome |
|
Low back pain, Cataract, Short stature, Osteoporosis, Reduced bone mineral density, Retinal degen... |
OMIM:277700 |
Frontorhiny |
|
Epicanthus, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Scoliosis, Iris coloboma, Pt... |
ORPHA:391474 |
Nail-Patella Syndrome |
|
Back pain, Keratoconus, Lester's sign, Lumbar hyperlordosis, Short stature, Cataract, Patellar ap... |
OMIM:161200 |
Knobloch Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Mac... |
ORPHA:1571 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the pulmonary artery, Respiratory insufficiency, Pulmonary embolism |
ORPHA:90308 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Cataract, Short stature, Scoliosis |
ORPHA:79107 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Bone pain, Decreased skull ossification, Iris coloboma, Short ... |
ORPHA:955 |
Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Cataract, Short stature, Posterior subcapsular cataract, Platyspo... |
OMIM:605822 |
Schwartz-Jampel Syndrome |
|
Short neck, Microcornea, Wrist flexion contracture, Abnormally ossified vertebrae, Increased bone... |
ORPHA:800 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Small for gestational age, Kyphoscoliosis |
OMIM:607371 |
Idiopathic Panuveitis |
|
Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vitreous sno... |
ORPHA:280921 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Severe postnatal growth retardat... |
ORPHA:85410 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Telecanthus, Cataract, Short stature, Pulmonary lymphangiectasia, Increased carrying angle, Ptosis |
OMIM:247410 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery |
ORPHA:1203 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Cataract, Proportionate short stature, Joint stiffness, Ecto... |
OMIM:277600 |
Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Increased bone mineral density, Rhizomelia, Cataract, Accelerated skeletal maturatio... |
ORPHA:50945 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Restrictive ventilatory defect, Pleural effusion, Cough, Emphysema, Airway obstruction |
ORPHA:36412 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Short stature, Kyphosis, Synophrys, Flexion contracture, Osteolysis, A... |
ORPHA:3042 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Choroidal neovascularization, Failure to thrive in infancy, Osteomalacia... |
ORPHA:51608 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Short stature, Delayed closure of the anterior fontanelle, Subretinal... |
ORPHA:357074 |
Monosomy 9Q22.3 |
|
Epicanthus, Cataract, Large for gestational age, Short neck, Kyphosis, Accelerated skeletal matur... |
ORPHA:77301 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... |
ORPHA:1572 |
Codas Syndrome |
|
Congenital hip dislocation, Short stature, Cataract, Hypoplasia of the odontoid process, Generali... |
OMIM:600373 |
Congenital Rubella Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:290 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Postnatal g... |
ORPHA:263508 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Short stature, Joint hyperflexibility, Scoliosis, Intrauterine growth retar... |
ORPHA:250989 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Epicanthus, Prominent metopic ridge, Cataract, Microcornea, O... |
ORPHA:46059 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Retinal detachment, Cataract, Genu recurvatum, Protrusio acetabuli, ... |
OMIM:154700 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Epicanthus, Ectropion, Short stature, Cataract, Short neck, Hip... |
ORPHA:2308 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphyses of the phalanges of th... |
ORPHA:93357 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Sacral dimple, Severe short stature, Retinal dystrophy, Chor... |
ORPHA:2556 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Recurrent fractures, Joint sti... |
ORPHA:394 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Failure to thrive |
OMIM:613804 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Moderate postnatal growth retardation, Knee flexion contracture, Epiph... |
OMIM:118650 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Epicanthus, Congenital hip dislocation, Camptodactyly of finger, Short neck, Ac... |
ORPHA:373 |
Alagille Syndrome 1 |
|
Posterior embryotoxon, Cataract, Butterfly vertebral arch, Band keratopathy, Chorioretinal atroph... |
OMIM:118450 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Cataract, Short stature, Craniosynostosis, Postnatal growth retardation,... |
ORPHA:1272 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Short stature, Recurrent fr... |
OMIM:268315 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Short stature, Kyphoscoliosis, Retinal vas... |
OMIM:308300 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Microcornea, Co... |
OMIM:610125 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Restrictive ventilatory def... |
ORPHA:538 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Lumbar hyperlordosis, Short stature, Cataract, Proportionate short stature, Joint s... |
OMIM:608328 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Cataract, Short neck, Scoliosis, Intrauterine growth retardation |
OMIM:616038 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Severe short stature, Cataract, Delayed cranial suture closure, Wide anterior fonta... |
ORPHA:90349 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Epicanthus, Retinal dystrophy, Chorioret... |
ORPHA:2526 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Rhizomelia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eye... |
OMIM:615877 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Wormian bones, Genu recurvatum, Delayed cranial suture closure, Corneal... |
ORPHA:90348 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Congenital hip dislocation, Small for gestational age, Sparse eyelash... |
OMIM:268400 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella, Ptosis |
ORPHA:1069 |
Mend Syndrome |
|
Sacral dimple, Cataract, Short stature, Kyphosis, Upslanted palpebral fissure, Narrow palpebral f... |
OMIM:300960 |
Monosomy 13Q14 |
|
Epicanthus, Cataract, Short stature, Short neck, Retinoblastoma, Intrauterine growth retardation,... |
ORPHA:1587 |
Antiphospholipid Syndrome, Familial |
|
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion |
OMIM:107320 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Entropion, Cataract, Kyphoscoliosis, Pneumothorax, Hip dislocation, Camptodactyly, Blepharophimos... |
OMIM:617403 |
Diabetic Embryopathy |
|
Abnormality of the pulmonary artery, Abnormal aortic morphology |
ORPHA:1926 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Short stature, Kyphoscoliosis, Hemivertebrae... |
ORPHA:97360 |
Mend Syndrome |
|
Sacral dimple, Telecanthus, Short stature, Cataract, Kyphosis, Wide anterior fontanel, Upslanted ... |
ORPHA:401973 |
Sarcoidosis, Susceptibility To, 1 |
|
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Weight loss, Hypoxemia, Rest... |
OMIM:181000 |
Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Tota... |
OMIM:306955 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema, Ascending tubular aorta aneurysm |
OMIM:219100 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Epicanthus, Cataract, Large for gestational age, Astigmatism, Retinal coloboma, Camptodactyly, Lo... |
ORPHA:500095 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Emphysema, Abnormality of the pulmonary arte... |
ORPHA:363618 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
Dextrocardia |
|
Abnormality of the pulmonary artery, Abnormal lung lobation, Abnormal pulmonary situs morphology |
ORPHA:1666 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Recurrent fractures, Corneal opacit... |
ORPHA:636 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormality of the pulmonary artery |
ORPHA:1131 |
Knobloch Syndrome 2 |
|
Retinal detachment, Recurrent respiratory infections, Anterior cortical cataract, Vitreous floate... |
OMIM:618458 |
Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Epicanthus, Congenital hip dislocation, Short sta... |
ORPHA:2834 |
Progeroid Short Stature With Pigmented Nevi |
|
Thoracic scoliosis, Cataract, Small for gestational age, Short stature, Allergic conjunctivitis, ... |
OMIM:176690 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... |
ORPHA:31204 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Optic... |
ORPHA:141099 |
Aspartylglucosaminuria |
|
Joint laxity, Recurrent respiratory infections, Cataract, Short stature, Kyphosis, Delayed skelet... |
OMIM:208400 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Entropion, Small for gestational age, Severe short stature, Del... |
OMIM:616835 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Peters Plus Syndrome |
|
Sacral dimple, Anterior chamber synechiae, Short stature, Rhizomelia, Corneal opacity, Short neck... |
ORPHA:709 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Small for gestational age, Short stature, Delayed skeletal maturation, ... |
OMIM:613658 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Craniofacial Microsomia 1 |
|
Ptosis, Block vertebrae, Blepharophimosis, Hemivertebrae, Upper eyelid coloboma, Genu valgum, Pul... |
OMIM:164210 |
Peters-Plus Syndrome |
|
Joint laxity, Cataract, Rhizomelia, Limited elbow movement, Short neck, Postnatal growth retardat... |
OMIM:261540 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Unilateral lung agenesis, Optic nerve hypoplasia, Kyphoscoliosi... |
ORPHA:500150 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ptosis, Amyloid deposition in the vitreous humor, Pulmonary edema |
OMIM:105210 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Small for gestational age, Hypoxemia, Ascending tubular aorta aneu... |
ORPHA:284979 |
Retinoblastoma |
|
Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma |
OMIM:180200 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Pulmonary artery hypoplasia, Emphysema, Chronic ... |
OMIM:245150 |
Cryptococcosis |
|
Osteomyelitis, Pneumonia, Abnormal retinal morphology, Nodular pattern on pulmonary HRCT, Vitriti... |
ORPHA:1546 |
Pagod Syndrome |
|
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hypoplasia, Abnormal ... |
ORPHA:991 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm, Aortic root aneurysm |
OMIM:614437 |
Viss Syndrome |
|
Joint laxity, Retinal detachment, Recurrent joint dislocation, Ectropion, Short stature, Joint hy... |
OMIM:619472 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormality of the pulmonary artery |
ORPHA:500 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Atypical Werner Syndrome |
|
Decreased body weight, Failure to thrive, Peripheral arterial stenosis, Neoplasm of the lung, Pre... |
ORPHA:79474 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia |
ORPHA:2470 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Failure to thrive, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of aorta |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of aorta |
ORPHA:261552 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |