Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... |
OMIM:122600 |
Poland Syndrome |
|
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... |
OMIM:173800 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... |
OMIM:277300 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Sprengel anomaly, Hemivertebrae, Neck muscl... |
OMIM:184400 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... |
ORPHA:66637 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... |
ORPHA:1797 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Delayed skeletal maturation, Radioulnar synostosis, Abnormal rib morphology, Sc... |
ORPHA:3268 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Becker Nevus Syndrome |
|
Shoulder girdle muscle atrophy, Pectus carinatum, Rib fusion, Supernumerary ribs, Spina bifida oc... |
ORPHA:64755 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Congenital muscular torticolli... |
ORPHA:2345 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... |
OMIM:613686 |
Brachyolmia, Maroteaux Type |
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Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis |
ORPHA:93302 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Clav... |
ORPHA:2790 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Spinal instability, Vertebral fusion |
OMIM:251250 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal morphology of... |
ORPHA:2311 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... |
OMIM:609052 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax |
ORPHA:93304 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Death in infancy, Abnormal rib morphology, A... |
ORPHA:1354 |
Kyphomelic Dysplasia |
|
Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Joint stiffnes... |
ORPHA:1801 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... |
ORPHA:1394 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies, Male hypogonadism, Hypergonadotropic h... |
OMIM:307500 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint hypermobility, S... |
ORPHA:40 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Vertebral fusion, Sacral dimple, Short thorax |
OMIM:618845 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... |
OMIM:617405 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Limitation of joint mobility, Flared, irregular rib ends |
ORPHA:168555 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... |
OMIM:610017 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Recurrent fractures, Bowing of limbs due to multiple fractures, ... |
OMIM:259440 |
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Firm muscles, Pectus carinatum, Vertebral wedging, Bell-shaped thorax, Genu valgum, Kyphoscoliosi... |
OMIM:255710 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Pectus carinatum, Lumbar hyperlordosis, Genu valgum, Intervertebral space narrowin... |
OMIM:609223 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Shoulder g... |
OMIM:606612 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Fusion of midcervical facet joints, Limb muscle weakness, Widening of cervical s... |
OMIM:606842 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Arachnodac... |
ORPHA:377 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, A... |
OMIM:118100 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Down-sloping s... |
OMIM:109400 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility, Cubitus v... |
ORPHA:1875 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Pectus carinatum, Popliteal pterygium, Cervical spinal canal stenosis, Elbow contracture, Elbow f... |
OMIM:178110 |
Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Optic atrophy, Narrow chest, Thoracic hypoplasia, Short femoral neck, Reduced sper... |
OMIM:602271 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Flexion contractu... |
OMIM:618469 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Recurrent respiratory infections, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ... |
OMIM:271520 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal enc... |
ORPHA:2635 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of finger, Vertebral segmenta... |
ORPHA:1836 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Azoospermia, Abnormal thorax morphology, Amenorrhea, Fused thoracic verte... |
ORPHA:1445 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Multiple pterygi... |
OMIM:312150 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scolios... |
OMIM:615220 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Osteopenia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Dela... |
ORPHA:243 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ... |
OMIM:609616 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint stiffness, Aplasia/Hyp... |
ORPHA:1149 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Amyoplasia, Increased susceptibility to fractures, Multiple pterygi... |
OMIM:253290 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Thigh hypertrophy, ... |
OMIM:607155 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Abnorma... |
ORPHA:2578 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormal joint morphology, Abnormality of the ovary, Abnormality of th... |
ORPHA:3130 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscol... |
ORPHA:313892 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... |
ORPHA:2522 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Small scrotum, Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypog... |
ORPHA:2234 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... |
OMIM:102510 |
Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Small hand, Optic disc coloboma, Butterfly vertebrae, Missing rib... |
ORPHA:50 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
Primary Basilar Invagination |
|
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck |
ORPHA:2285 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... |
OMIM:604864 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed skeletal matur... |
OMIM:619665 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Camptodactyly,... |
OMIM:113000 |
Aicardi Syndrome |
|
Optic atrophy, Block vertebrae, Optic disc coloboma, Butterfly vertebrae, Missing ribs, Supernume... |
OMIM:304050 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Congenital diaphragmatic hernia, Patellar aplasia, Sho... |
OMIM:265000 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Narrow chest, Overlapping toe, Postaxial hand polydactyly, Rib fusion, Short neck, Sprengel anoma... |
OMIM:213980 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... |
ORPHA:3109 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Metaphyseal spurs... |
OMIM:608728 |
Kbg Syndrome |
|
Delayed skeletal maturation, Cervical ribs, Persistent open anterior fontanelle, Cryptorchidism, ... |
ORPHA:2332 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Abnor... |
ORPHA:93351 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Facial palsy, Scoliosis |
OMIM:614688 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Axillary pterygium, Small scrotum, Popliteal pterygium, Limitation of joint mobility, Arthrogrypo... |
ORPHA:2990 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... |
OMIM:614524 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Familial Congenital Mirror Movements |
|
Hypogonadotropic hypogonadism, Fused cervical vertebrae |
ORPHA:238722 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... |
OMIM:618395 |
Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp... |
OMIM:602196 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ... |
ORPHA:2777 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Sho... |
ORPHA:1486 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... |
ORPHA:432 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Premature Ovarian Failure 2B |
|
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteopo... |
OMIM:300604 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Camptodactyly, Rocker bottom foot, ... |
OMIM:618393 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Osteoporosis, Fema... |
ORPHA:397685 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Flared metaphysi... |
OMIM:187601 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology, Abnormality of the ankle, Abnormality of the knee, ... |
ORPHA:163665 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascu... |
OMIM:184100 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Posterior rib gap, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femora... |
OMIM:611209 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... |
ORPHA:485 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Umbilical hernia, Camptodactyly of finger, Cryptorchidism, Joint hypermobility, ... |
ORPHA:915 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl... |
OMIM:184250 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Lower limb pain, Osteosclerosis of the ... |
OMIM:609993 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Cubitus valgus, Hypoplasia of the ovary, Oligomenorrhea, Osteoporosis,... |
OMIM:615300 |
Jeune Syndrome |
|
Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Postaxial foot polydactyly, Abnormal ... |
ORPHA:474 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Death in adolescence, Short long b... |
OMIM:619751 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Vaginal h... |
ORPHA:2916 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Short ribs, Missing ribs, Torticollis, Pectus excavatum, Scoliosis |
OMIM:618155 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Smal... |
OMIM:602111 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Schneckenbecken Dysplasia |
|
Platyspondyly, Narrow chest, Hypoplastic scapulae, Thoracic hypoplasia, Stillbirth, Umbilical her... |
OMIM:269250 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Bruck Syndrome 1 |
|
Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Elbow flexion cont... |
OMIM:259450 |
Greenberg Dysplasia |
|
Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica... |
ORPHA:1426 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... |
ORPHA:93315 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... |
OMIM:615633 |
Christian Syndrome |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Cryptorchidism, Missing ribs, Hypogonadotropic hypogonadism, Supernumerary r... |
OMIM:206900 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... |
OMIM:301101 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:617960 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Rib fusion, Hand polydactyly, Craniosynostosis, Scoliosis |
ORPHA:261197 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Abnormal epiphysis morphology, Abnorma... |
ORPHA:93267 |
Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Delayed skeletal maturation, Absence of secondary sex charac... |
ORPHA:2235 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... |
OMIM:615723 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Premature pubarche, Secondary amenorrhea, Irregu... |
OMIM:612847 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... |
ORPHA:2319 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... |
ORPHA:2232 |
Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Decreased muscle mass, Joint stiffness, Missing ribs, Hypoplast... |
ORPHA:3027 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Keratoconus Posticus Circumscriptus |
|
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion |
OMIM:244600 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... |
OMIM:151210 |
Frontometaphyseal Dysplasia 1 |
|
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited... |
OMIM:305620 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Facial diplegia, Diaphyseal sclerosis, Death in adolescence, Papilledema, Thickene... |
OMIM:122860 |
Diastrophic Dysplasia |
|
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal clavicle morphology, Abnormal... |
ORPHA:628 |
Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Advanced tarsal ossification, Sho... |
OMIM:215045 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... |
OMIM:618841 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Joint dislocation, Decreased skull ossification, ... |
ORPHA:2097 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619528 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Holt-Oram Syndrome |
|
Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A... |
ORPHA:392 |
Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis |
ORPHA:1646 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Sac... |
ORPHA:1643 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Kbg Syndrome |
|
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the... |
OMIM:148050 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... |
OMIM:253000 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Acetabular dysplasia, Myopathy, Cervical C2/C3 vertebral fusion, Short neck, Tho... |
OMIM:616549 |
Mosaic Trisomy 14 |
|
Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Hypoplastic ilia, Thoracic hypopla... |
OMIM:187600 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Cubitus valgus, Short neck, Shield chest, I... |
ORPHA:247768 |
Spondylocarpotarsal Synostosis Syndrome |
|
Pectus carinatum, Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturatio... |
OMIM:272460 |
White Forelock With Malformations |
|
Delayed skeletal maturation, Joint hypermobility, Sprengel anomaly, Abnormal rib morphology, Spin... |
ORPHA:2475 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Azoospermia, Male infertility |
OMIM:619145 |
3M Syndrome |
|
Thin ribs, Decreased fertility, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increas... |
ORPHA:2616 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the vertebral column, Azoospermia, Sprengel anomaly, Abnormal rib morphology, Hypo... |
OMIM:601076 |
Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Pectus carinatum, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis,... |
OMIM:271530 |
Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Sh... |
ORPHA:1507 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... |
OMIM:268310 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Sclerosis of skull base, Cryptorchidism, Biconcave vertebral bodies, Joint hype... |
OMIM:130720 |
Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology |
ORPHA:280195 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Meso... |
OMIM:146510 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
1P36 Deletion Syndrome |
|
Optic atrophy, Delayed cranial suture closure, Camptodactyly of finger, Hypogonadism, 11 pairs of... |
ORPHA:1606 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Reduced bone mineral density, Congenital diaphragmatic hernia, Joint hyp... |
ORPHA:1488 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... |
OMIM:223800 |
Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... |
OMIM:228520 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Umbilical hernia, Shoulder dislocation, Knee dislocation, Cryptorchidism, Thoracic sc... |
OMIM:618000 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Delayed skeletal maturation, Sp... |
ORPHA:582 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Stillbirth |
OMIM:152800 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolysis, Fused cer... |
OMIM:612852 |
Larsen Syndrome |
|
Pectus carinatum, Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow disloca... |
OMIM:150250 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... |
OMIM:250420 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... |
ORPHA:2180 |
Achondrogenesis Type 1B |
|
Narrow chest, Abnormal rib morphology, Umbilical hernia, Short neck, Short thorax, Short foot |
ORPHA:93298 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Radioulnar synost... |
OMIM:134780 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... |
OMIM:300232 |
Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... |
ORPHA:2876 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... |
OMIM:300863 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Bronchopulmonary Dysplasia |
|
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis |
ORPHA:70589 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Wormian bones, Osteo... |
OMIM:619131 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Abnormal thorax morphology, Respiratory tract infection, Pulmonary edema |
ORPHA:70587 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Generalized osteoporos... |
OMIM:617952 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Female infertility, Delayed skeletal maturation, Mal... |
ORPHA:91 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Limitation of joint ... |
ORPHA:3068 |
Cog1-Cdg |
|
Posterior rib gap, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Kyphoscoliosis... |
ORPHA:263508 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... |
ORPHA:79127 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... |
ORPHA:1772 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, C... |
ORPHA:3082 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis |
ORPHA:922 |
Koolen-De Vries Syndrome |
|
Hypospadias, Hip dislocation, Cryptorchidism, Vertebral segmentation defect, Joint hypermobility,... |
ORPHA:96169 |
Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Wormia... |
OMIM:166210 |
Achondrogenesis, Type Ii |
|
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... |
OMIM:200610 |
Verheij Syndrome |
|
Branchial cyst, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip ... |
OMIM:615583 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Kyphosis, Bowing of limbs due to multiple fractures, Biconcave vertebral bodies, Decre... |
OMIM:259420 |
Mhc Class I Deficiency 1 |
|
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis |
OMIM:604571 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Rib fusion, Clinodactyly of the 5th finger, Sacral dimple, Tapered finger |
ORPHA:544488 |
Robinow Syndrome |
|
Webbed penis, Small scrotum, Umbilical hernia, Decreased serum testosterone concentration, Extern... |
ORPHA:97360 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Hemivertebrae, Abnormal... |
ORPHA:2759 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Abnormality of the uterus, Decreased testicular size, Decreased ferti... |
ORPHA:2970 |
Leopard Syndrome 1 |
|
Pectus carinatum, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Kyphoscoliosis, Missing... |
OMIM:151100 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... |
ORPHA:1120 |
Wildervanck Syndrome |
|
Short neck, Facial palsy, Fused cervical vertebrae |
ORPHA:3456 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Abnormal form ... |
ORPHA:280 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Short distal phalanx of finger, Abnormal rib morphology, Delayed cra... |
ORPHA:2484 |
Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... |
ORPHA:90650 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... |
ORPHA:199310 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... |
ORPHA:2021 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... |
ORPHA:163966 |
Mosaic Trisomy 20 |
|
Narrow chest, Spinal canal stenosis, Cryptorchidism, Vertebral segmentation defect, Down-sloping ... |
ORPHA:1724 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Pectus excavatum, Six lumbar vertebrae, Scapular winging |
OMIM:619122 |
Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Myelomeningocele, Cryptorchidism, Bifid sacrum, Vert... |
ORPHA:1756 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cervical ribs, Aplasia/Hypoplasia of the patella, Aplasia of the uterus, Thrombocytopenia, Patell... |
ORPHA:3320 |
Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Atelosteogenesis, Type I |
|
Narrow chest, Thoracic hypoplasia, Elbow dislocation, Knee dislocation, Thoracic platyspondyly, V... |
OMIM:108720 |
Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L... |
OMIM:203500 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... |
ORPHA:3035 |
Premature Ovarian Failure 22 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... |
OMIM:620548 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Nemaline bodies, Skeletal muscle atrophy, Abnormal thorax morphology, Facial diplegia,... |
ORPHA:171430 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Joint hyperm... |
ORPHA:456328 |
Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu... |
ORPHA:93352 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Decreased calvarial ossification, Joint hypermobility, Ambiguous genitalia, Abnor... |
ORPHA:2772 |
Achondrogenesis Type 1A |
|
Narrow chest, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax, Short foot, Sho... |
ORPHA:93299 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Recurrent fractures, Joint hypermobility, Wormian bones, A... |
ORPHA:2050 |
Achondrogenesis, Type Ia |
|
Broad clavicles, Hypoplastic scapulae, Narrow chest, Unossified vertebral bodies, Hypoplastic sac... |
OMIM:200600 |
Lamb-Shaffer Syndrome |
|
Scoliosis, Fused cervical vertebrae, Thoracic kyphosis |
ORPHA:530983 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology |
ORPHA:2643 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Narrow chest, Decreased calvarial ossification, Multiple rib fractures... |
OMIM:616229 |
Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Short neck, Pectus excavatum |
OMIM:609654 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Short 5th finger, Optic atrophy, Optic disc coloboma, Camptodactyly of finger, 11 pairs of ribs, ... |
OMIM:607872 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Sifrim-Hitz-Weiss Syndrome |
|
Cryptorchidism, Short clavicles, Hypogonadotropic hypogonadism, Wormian bones, Ambiguous genitali... |
OMIM:617159 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Joint contracture of the hand, Limitation of joint mobility, Genu valgum, Beaking of vertebral bo... |
ORPHA:1159 |
Dysosteosclerosis |
|
Platyspondyly, Optic atrophy, Narrow chest, Short diaphyses, Facial paralysis, Broad femoral neck... |
OMIM:224300 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... |
OMIM:612387 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pectus carinatum, Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Lumbar scoliosi... |
OMIM:617796 |
Hypophosphatasia |
|
Emphysema, Narrow chest, Abnormal rib morphology |
ORPHA:436 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul... |
ORPHA:95699 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosi... |
OMIM:602557 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Bronchiectasis |
ORPHA:1164 |
Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Cervical myelopathy, Constricted iliac wing, Hypoplasia of the odontoid process, U... |
OMIM:253010 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Cornelia De Lange Syndrome 6 |
|
Pectus carinatum, Short 1st metacarpal, Down-sloping shoulders, Arachnodactyly, Hip dysplasia, Cl... |
OMIM:620568 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Barre... |
ORPHA:93284 |
Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Narrow chest, Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Myel... |
ORPHA:90652 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Osteopenia, Delayed skeletal maturation, Decreased response to gro... |
ORPHA:91348 |
Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, ... |
OMIM:218600 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Thin ribs |
OMIM:615368 |
Koolen-De Vries Syndrome |
|
Hip dislocation, Spondylolisthesis, Cryptorchidism, Joint hypermobility, Pectus excavatum, Verteb... |
OMIM:610443 |
Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... |
OMIM:620601 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Abnormal rib cage morphology, Cryptorchidism, Down-sloping shoulders, Hyperextensible hand joints... |
OMIM:227330 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
Ollier Disease |
|
Precocious puberty, Platyspondyly, Joint stiffness, Anemia, Osteolysis, Bone pain |
ORPHA:296 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph... |
ORPHA:79345 |
Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, H... |
ORPHA:2347 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
Cole-Carpenter Syndrome 2 |
|
Thin ribs, Osteopenia, Coronal craniosynostosis, Lambdoidal craniosynostosis, Platyspondyly, Kyph... |
OMIM:616294 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,... |
ORPHA:958 |
Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Mucopolysaccharidosis Type 6 |
|
Broad ribs, Joint stiffness, Genu valgum, Short neck, Macroglossia, Kyphosis, Ovoid vertebral bodies |
ORPHA:583 |
Lethal Congenital Contracture Syndrome 1 |
|
Widening of cervical spinal canal, Abnormal thorax morphology, Neonatal death |
OMIM:253310 |
Cardiospondylocarpofacial Syndrome |
|
Delayed skeletal maturation, Carpal synostosis, Fusion of middle ear ossicles, Congenital diaphra... |
OMIM:157800 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral ... |
ORPHA:3258 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal form of the vertebral bodies, Congenital diaphragmatic hernia, Vertebral segmentation de... |
ORPHA:1834 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Sprengel anomaly, Spina bifida occulta, Pectus excavatum, Fused cervical ver... |
OMIM:619227 |
Campomelia, Cumming Type |
|
Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Brachyd... |
ORPHA:1318 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordo... |
OMIM:612921 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... |
ORPHA:543 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Osteopenia, Platyspondyly, Kyphosis, Barrel-shaped chest, Decreased skull ossification... |
OMIM:610915 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Hip dislocation, Abnormal form of the vertebral bodies, Del... |
OMIM:194190 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Female infertility, Scoliosis, Premature ovarian insufficiency |
OMIM:619518 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Osteopenia, Narrow chest, Platyspondyly, Thoracic hypoplasia, Broad ribs, Genu valgum,... |
OMIM:613848 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections |
ORPHA:3348 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... |
ORPHA:2302 |
Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... |
OMIM:215140 |
C1Q Deficiency 2 |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis |
OMIM:620321 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... |
ORPHA:79126 |
Sclerosteosis 1 |
|
Irregular menstruation, Broad clavicles, Optic atrophy, Abnormal pelvic girdle bone morphology, D... |
OMIM:269500 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Joint stiffness, Sprengel anomaly, Abnormal rib morphology, Pectus excav... |
ORPHA:3242 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Postaxial polyd... |
OMIM:617895 |
Zttk Syndrome |
|
Optic atrophy, Small hand, Cervical ribs, Rib fusion, Hemivertebrae, Craniosynostosis, Short foot... |
OMIM:617140 |
Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic... |
OMIM:252930 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo... |
ORPHA:85167 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria |
OMIM:252920 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Bifid scrotum, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Ne... |
OMIM:300219 |
Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... |
ORPHA:60032 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tubular bones ... |
ORPHA:85184 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Isochromosomy Yq |
|
Azoospermia, Male infertility |
ORPHA:98798 |
Holzgreve Syndrome |
|
Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morph... |
ORPHA:2167 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Cleidocranial Dysplasia |
|
Narrow chest, Hypoplastic scapulae, Hypoplastic inferior ilia, Abnormal pelvic girdle bone morpho... |
ORPHA:1452 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
Kyphomelic Dysplasia |
|
Platyspondyly, Thoracic hypoplasia, Radial bowing, Flared metaphysis, Pterygium, Dumbbell-shaped ... |
OMIM:211350 |
Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... |
OMIM:620076 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... |
OMIM:135100 |
Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas... |
ORPHA:2911 |
Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Umbilical hernia,... |
ORPHA:1517 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Metaphyseal irregularity, Metaphyseal cupping, Optic disc coloboma, Short finger, ... |
OMIM:608940 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr... |
ORPHA:93317 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Delayed skeletal matu... |
ORPHA:3464 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Delayed cranial suture closure, Stenosis of the medullary cavity of the lo... |
ORPHA:93324 |
Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... |
OMIM:252600 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... |
OMIM:250220 |
Pallister-Hall Syndrome |
|
Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ... |
ORPHA:672 |
Vacterl/Vater Association |
|
Occipital encephalocele, Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptor... |
ORPHA:887 |
Frontometaphyseal Dysplasia |
|
Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint contracture o... |
ORPHA:1826 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology |
ORPHA:2357 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
Antley-Bixler Syndrome |
|
Narrow chest, Delayed cranial suture closure, Camptodactyly of finger, Joint stiffness, Elbow ank... |
ORPHA:83 |
Sillence Syndrome |
|
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... |
ORPHA:3168 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Thoracic hypoplasia, Decreased skull ossification, Multiple rib fractu... |
OMIM:616897 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Craniosynostosis, Arthrogryposis multiplex congenita, Decreased calvarial ossification |
OMIM:618265 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Polysplenia, Supernumerary nipple, Umbilical hernia, Camptodactyly of... |
ORPHA:373 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Thoracic hypoplasia, Metaphyseal spurs, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Androgen Insensitivity, Partial |
|
Abnormal rib cage morphology, Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoo... |
OMIM:312300 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Aromatase Deficiency |
|
Delayed skeletal maturation, Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hype... |
OMIM:613546 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Unossified sacrum, Sclerosis of skull base, Horizontal rib... |
ORPHA:3003 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist... |
ORPHA:73230 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosi... |
OMIM:230500 |
Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Spinal rigidity, Hypoplasia of the musculature, Shoulder flexion contracture, Thoracic... |
OMIM:620369 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Delayed skeletal maturation, Decreased skull ossification, Delayed closure of the ante... |
OMIM:244460 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junction, Enlargement of t... |
OMIM:600081 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... |
OMIM:151200 |
Myhre Syndrome |
|
Platyspondyly, Limitation of joint mobility, Generalized muscle hypertrophy, Broad ribs, Enlarged... |
OMIM:139210 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
Craniometadiaphyseal Dysplasia |
|
Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Scol... |
OMIM:269300 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Camptodactyly, Cervical C2/C3 vertebral fusion, Joint hypermobility |
OMIM:617333 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida |
OMIM:193500 |
Meconium Aspiration Syndrome |
|
Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Elbow dislocation, Missing... |
ORPHA:2769 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Upper limb muscle weakness |
ORPHA:370010 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri... |
OMIM:271665 |
Mosaic Trisomy 8 |
|
Narrow chest, Limitation of joint mobility, Camptodactyly of finger, Patellar aplasia, Vertebral ... |
ORPHA:96061 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Mucopolysaccharidosis, Type Vii |
|
Thoracolumbar kyphosis, Pectus carinatum, Platyspondyly, Hypoplasia of the odontoid process, Limi... |
OMIM:253220 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Aplasia/Hypoplasia involving the pelvis, Missing ribs, Abnormal rib morphology, Se... |
ORPHA:3301 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Small scrotum, Popliteal pterygium, Bifid scrotum, Joint stiffness, Cryptorchidism, Hypoplastic l... |
ORPHA:1300 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Short neck, Hypoplastic ilia... |
OMIM:271640 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Neonatal death, Missing ribs, Short neck, Clinodactyly of the 5th finger |
OMIM:619859 |
Trisomy 13 |
|
Optic atrophy, Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal rib m... |
ORPHA:3378 |
Radio-Renal Syndrome |
|
Abnormal form of the vertebral bodies, Short neck, Brachydactyly, Hypoplasia of the radius, Abnor... |
ORPHA:3015 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability... |
OMIM:607326 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal nerve conduction velocity, Abnormal clavicle morphology, ... |
ORPHA:93473 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia |
ORPHA:254534 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Diastasis recti, Joint hypermobility, Wrist flexion contracture, Flexion con... |
ORPHA:254528 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Narrow chest, Stiff neck, Broad ribs, Thoracic sc... |
OMIM:617022 |
Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Cervical myelopathy, Pectus carinatum, Hypoplasia of the odontoid process, Atlanto... |
OMIM:183900 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Broad ribs, Long hallux, Broad... |
OMIM:600002 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis |
ORPHA:2902 |
X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Upper limb metaphyseal widening, Shortening of the talar neck, Rach... |
ORPHA:89936 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Abnormal rib morphology, Broad ribs, Short ribs, Postaxial hand poly... |
ORPHA:2519 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... |
OMIM:610978 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Absent thumb, Slender long bone, Cervical ribs, Lumbar hyperlordosis, Kyphoscolios... |
ORPHA:500150 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Absent thumb, Short tibia, Oligodactyly, Humeroradial synostosis, Neonatal death, M... |
OMIM:251230 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Clitoral hypertrophy, Joint contracture of the hand, Elbow dislocation, Genu valgum, C... |
OMIM:224690 |
Alagille Syndrome |
|
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Clinodactyly of the 5th fi... |
ORPHA:52 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture |
OMIM:614833 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Joint stiffness, Streak ovary, Crypto... |
OMIM:618820 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Osteopenia, Hypoplasia of the musculature, Small hypothenar eminence, Lumbar hemiverte... |
ORPHA:2463 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Cervical ribs, Abnormal shoulder morphology, Carpal synostosis, Hepatosple... |
OMIM:274000 |
Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Pectus carinatum, Epiphyseal dysplasia, Hypoplasia of the odontoid process, ... |
OMIM:253200 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Short neck, Rectovaginal fistula, Hemivertebrae |
ORPHA:1780 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic kyphosis, Thoracic scol... |
ORPHA:508498 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Narrow chest, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi... |
OMIM:200980 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Limb hypertonia, Accelerated skeletal maturation, Osteoporosis, ... |
OMIM:617190 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec... |
OMIM:184095 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Pectus carinatum, Lambdoidal craniosynostosis, Coronal craniosyn... |
OMIM:101200 |
Xylt1-Cdg |
|
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Sho... |
ORPHA:370930 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Radioulnar synostosis, Hypoplas... |
OMIM:263750 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... |
OMIM:208500 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Osteomalacia, Ovarian cyst, Elevated circulating growth hor... |
ORPHA:249 |
Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Diastasis recti, Kyphoscoliosis, Long clavicles, Flexion contracture |
OMIM:608149 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Hypoplastic iliac w... |
OMIM:225500 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Delayed cranial suture closure, Crumpled long bones, Death in infancy, Multiple rib... |
OMIM:610682 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Butterfly vertebrae, Neonatal death, Asplenia, Bicornuate uterus, Hypospadias, ... |
OMIM:265380 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Radioulnar synostosis, Short neck, Hypospadias, Neural tube defect, Sacrococcygeal ... |
ORPHA:798 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Short neck, Hypothyroidism, Neutropenia, F... |
OMIM:609053 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Ar... |
OMIM:600920 |
Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Hip contracture, Myopathy, Short neck, Sprengel anomaly, Protrusi... |
ORPHA:800 |
Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility |
OMIM:620103 |
Primary Ciliary Dyskinesia |
|
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... |
ORPHA:244 |
Gracile Bone Dysplasia |
|
Thin ribs, Slender long bone, Flared metaphysis, Death in infancy, Brachydactyly |
OMIM:602361 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:242700 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Congenital muscular torticollis, Abnormal rib m... |
ORPHA:2215 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Short neck, Primary amenorrhea, Prematu... |
ORPHA:99413 |
Turner Syndrome |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Short neck, Primary amenorrhea, Prematu... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Short neck, Primary amenorrhea, Prematu... |
ORPHA:99228 |
Monosomy X |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Short neck, Primary amenorrhea, Prematu... |
ORPHA:99226 |
Duane-Radial Ray Syndrome |
|
Pectoralis hypoplasia, Small thenar eminence, Shoulder dislocation, Spina bifida occulta, Facial ... |
OMIM:607323 |
Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, W... |
OMIM:614008 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Apert Syndrome |
|
Cervical C5/C6 vertebrae fusion, Ovarian neoplasm, Vertebral segmentation defect |
ORPHA:87 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Abnormality of the musculature of the lower limbs, A... |
ORPHA:268882 |
Occipital Horn Syndrome |
|
Platyspondyly, Broad clavicles, Narrow chest, Pectus carinatum, Persistent open anterior fontanel... |
OMIM:304150 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Oculocerebrocutaneous Syndrome |
|
Missing ribs, Congenital hip dislocation, Congenital diaphragmatic hernia, Abnormal rib morphology |
ORPHA:1647 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Hyperparathyroidism, Fractured rib, Narrow chest, Osteopenia, Umbilical hernia, Undula... |
OMIM:618188 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Cryptorchidism, Hip contracture, Delayed puberty, ... |
OMIM:617137 |
Fraser-Like Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst |
OMIM:229230 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... |
OMIM:276820 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Coronal craniosynostosis, Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypopla... |
ORPHA:83617 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Pectus carinatum, Joint contracture of the hand, Osteopenia, Genu recurvatum, Genu val... |
OMIM:182212 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Bronchiectasis, Bronchitis |
ORPHA:60 |
Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Sternocleidomastoid amyotrophy, Osteopenia, Delayed skeletal maturation, Short neck, Abnormal rib... |
ORPHA:488434 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Postaxial polysyndactyly... |
OMIM:263520 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis |
OMIM:244400 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormality of the uterus, Abnormal morphology of female internal g... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Unicoronal synostosis, Short tibia, Preaxial polydactyly, Bell-shaped thorax, Hypop... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 12 |
|
Narrow chest, Hypoplastic scapulae, Short toe, Thoracic dysplasia, Short finger, Bowing of the ar... |
OMIM:269860 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Narrow chest, Delayed skeletal maturation, Irregular ossification at anterio... |
OMIM:260400 |
Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Short neck, Aplas... |
OMIM:609945 |
Myhre Syndrome |
|
Abnormal penis morphology, Precocious puberty, Platyspondyly, Hypogonadism, External genital hypo... |
ORPHA:2588 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Metopic synostosis, Joint hypermobility, Short neck, Acceler... |
ORPHA:77301 |
Alg9-Cdg |
|
Delayed cranial suture closure, Short neck, Hypoplastic nipples, Hypoplasia of the ovary, Abnorma... |
ORPHA:79328 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Splenomegaly, Tracheomalacia, Cryptorchidism |
OMIM:616368 |
Trisomy 1Q |
|
Short thorax, Congenital diaphragmatic hernia, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:261344 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina ... |
ORPHA:233 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Short tibia, Preaxial polydactyly, Long thorax, Horizontal ribs, Short ribs, Neonat... |
OMIM:617925 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... |
ORPHA:217563 |
3Q29 Microdeletion Syndrome |
|
Pectus carinatum, Six lumbar vertebrae, Clinodactyly of the 5th finger, Pectus excavatum, Tapered... |
ORPHA:65286 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death |
OMIM:615709 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Delayed skeletal maturation, Delayed cranial suture closure, Elbow flexion contr... |
OMIM:151050 |
Campomelic Dysplasia |
|
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs, Delayed skeletal maturation |
OMIM:614857 |
Bardet-Biedl Syndrome |
|
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... |
ORPHA:110 |
Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Optic atrophy, Broad femoral neck, Broad ribs, Optic nerve compression, Increased ... |
OMIM:619727 |
Kagami-Ogata Syndrome |
|
Limitation of joint mobility, Thoracic hypoplasia, Bell-shaped thorax, Diastasis recti, Kyphoscol... |
ORPHA:254519 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Lateral clavicle hook |
OMIM:613804 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... |
OMIM:620233 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Genu valgum, Leukocytosis, Hypoplasia of the ovary, Micropenis, Flexio... |
OMIM:619321 |
Immunodeficiency 89 And Autoimmunity |
|
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening |
OMIM:619632 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... |
OMIM:184705 |
Mucopolysaccharidosis, Type Iiid |
|
Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vert... |
OMIM:252940 |
Familial Peripheral Male-Limited Precocious Puberty |
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Oligozoospermia, Male infertility |
ORPHA:3000 |
Osteogenesis Imperfecta |
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Thin ribs, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification, Dislocated rad... |
ORPHA:666 |
Spermatogenic Failure 14 |
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Azoospermia, Male infertility, Round spermatid arrest |
OMIM:615842 |
Osteopetrosis, Autosomal Recessive 7 |
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Optic atrophy, Optic nerve compression, Death in childhood, Death in infancy, Multiple rib fractu... |
OMIM:612301 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Emphysema, Pectus excavatum, Peripheral pulmonary artery stenosis, Recurrent respiratory infections |
OMIM:219100 |
Hypoplasminogenemia |
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Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Premature Aging Syndrome, Penttinen Type |
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Thin ribs, Delayed skeletal maturation, Delayed cranial suture closure, Cervical ribs, Wormian bo... |
OMIM:601812 |
Cerebrocostomandibular Syndrome |
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Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... |
OMIM:117650 |
Spermatogenic Failure 28 |
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Non-obstructive azoospermia, Male infertility |
OMIM:618086 |
Ciliary Dyskinesia, Primary, 45 |
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Male infertility |
OMIM:618801 |
Vater/Vacterl Association |
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Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Abnormal sternum morphology,... |
OMIM:192350 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Ear-Patella-Short Stature Syndrome |
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Aplastic clavicle, Clitoral hypertrophy, Elbow dislocation, Delayed skeletal maturation, Camptoda... |
ORPHA:2554 |
Alpha-Mannosidosis, Infantile Form |
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Platyspondyly, Pectus carinatum, Osteopenia, Talipes valgus, Joint stiffness, Genu valgum, Myopat... |
ORPHA:309282 |
Chromosome 16P13.3 Duplication Syndrome |
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Cervical C5/C6 vertebrae fusion, Cryptorchidism, Short neck, Camptodactyly, Pectus excavatum, Tra... |
OMIM:613458 |
Netherton Syndrome |
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Emphysema, Recurrent respiratory infections |
ORPHA:634 |
Acro-Renal-Ocular Syndrome |
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Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
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Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
Farber Disease |
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Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Abn... |
ORPHA:333 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... |
OMIM:615067 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... |
OMIM:209900 |
Ciliary Dyskinesia, Primary, 34 |
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Immotile sperm, Male infertility |
OMIM:617091 |
Dextrocardia |
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Congenital hip dislocation, Pancreatic hypoplasia, Abnormality of the spleen, Abnormal reproducti... |
ORPHA:1666 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
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Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Weill-Marchesani Syndrome 1 |
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Spinal canal stenosis, Broad ribs, Joint stiffness, Lumbar hyperlordosis, Scoliosis |
OMIM:277600 |
Whim Syndrome |
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Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... |
ORPHA:51636 |
Spermatogenic Failure 13 |
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Azoospermia, Male infertility |
OMIM:615841 |
Hypocomplementemic Urticarial Vasculitis |
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Emphysema, Pleural effusion |
ORPHA:36412 |
Lymphangioleiomyomatosis |
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Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... |
ORPHA:538 |
Stuve-Wiedemann Syndrome 1 |
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Thin ribs, Talipes valgus, Elbow flexion contracture, Pathologic fracture, Knee flexion contractu... |
OMIM:601559 |
Spermatogenic Failure, X-Linked, 4 |
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Azoospermia, Male infertility |
OMIM:301077 |
Common Variable Immunodeficiency |
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Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis |
ORPHA:1572 |
Ulbright-Hodes Syndrome |
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Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short hume... |
ORPHA:3404 |
Fetal Akinesia Deformation Sequence 1 |
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Thin ribs, Congenital contracture, Thoracic hypoplasia, Decreased muscle mass, Camptodactyly of f... |
OMIM:208150 |
Osteopathia Striata With Cranial Sclerosis |
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Thoracolumbar kyphosis, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalaci... |
OMIM:300373 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Joint stiffness, Genu valgum... |
ORPHA:581 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Thin ribs, Progressive congenital scoliosis, Osteopenia, Platyspondyly, Joint dislocation, Congen... |
OMIM:225400 |
Elsahy-Waters Syndrome |
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Bifid scrotum, Bilateral cryptorchidism, Cervical C2/C3 vertebral fusion, Penoscrotal hypospadias... |
OMIM:211380 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Aplasia of the epiglottis, Short clavicles,... |
OMIM:617088 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hypoplastic scapulae, Abnormality of the costochondral junction, Short neck, Anterior rib cupping... |
ORPHA:96334 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... |
ORPHA:247691 |
Trisomy 18 |
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Delayed skeletal maturation, Abnormal morphology of female internal genitalia, Camptodactyly of f... |
ORPHA:3380 |
Congenital Bilateral Absence Of Vas Deferens |
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Obstructive azoospermia, Oligozoospermia, Male infertility |
ORPHA:48 |
Hallermann-Streiff Syndrome |
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Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Trache... |
OMIM:234100 |
Monosomy 9P |
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Limitation of joint mobility, Abnormality of the vertebral column, Congenital diaphragmatic herni... |
ORPHA:261112 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Polysplenia, Myelomeningocele... |
OMIM:306955 |
Pseudo-Torch Syndrome 2 |
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Thin ribs |
OMIM:617397 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Abnormal vertebral morphology, Tracheomalacia, Decreased response to growth hormone stimulation t... |
ORPHA:444077 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Pectus carinatum, Atelectasis, Pectus excavatum, Repeated pneumothoraces, Pulmonary hypoplasia |
ORPHA:536467 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Pulmonary hypo... |
OMIM:613177 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Broad thumb, 2-3 finger syndactyly, Broad toe, Short greater sciatic notch, Short foot, Pectus ca... |
OMIM:312870 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Recurrent lower respiratory tract infections, Intercostal muscle weakness, Atelectasis |
ORPHA:258 |
Oculocerebrorenal Syndrome Of Lowe |
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Osteomalacia, Genu valgum, Cryptorchidism, Patellar dislocation, Hip dislocation, Arthritis, Anem... |
ORPHA:534 |
Weill-Marchesani Syndrome 2 |
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Delayed skeletal maturation, Spinal canal stenosis, Elbow flexion contracture, Broad ribs, Joint ... |
OMIM:608328 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Broad ribs, Sclerosis of skull base, Hypoplasia of first ribs, M... |
OMIM:269150 |
Congenital Tracheomalacia |
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Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
Loeys-Dietz Syndrome 4 |
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Emphysema, Pneumothorax, Abnormal sternum morphology |
OMIM:614816 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Pectus excavatum, Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis |
OMIM:618278 |
Smith-Lemli-Opitz Syndrome |
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Optic atrophy, Hip dislocation, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Abn... |
ORPHA:818 |
Fraser Syndrome |
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Small scrotum, Abnormal vagina morphology, Umbilical hernia, Myelomeningocele, Female pseudoherma... |
ORPHA:2052 |
Cutis Laxa, Autosomal Dominant 1 |
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Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
OMIM:123700 |
Craniofacial Microsomia 1 |
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Hypoplasia of facial musculature, Block vertebrae, Cervical ribs, Genu valgum, Hemivertebrae, Sco... |
OMIM:164210 |
Charge Syndrome |
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Bifid scrotum, Abnormal morphology of female internal genitalia, Umbilical hernia, Cryptorchidism... |
ORPHA:138 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Pectus excavatum, Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia |
OMIM:620371 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Azoospermia, Male infertility |
OMIM:277180 |
Autosomal Recessive Malignant Osteopetrosis |
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Narrow chest, Abnormal epiphysis morphology, Optic nerve compression, Bowing of the long bones, A... |
ORPHA:667 |
Ellis Van Creveld Syndrome |
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Emphysema, Narrow chest, Aplasia/Hypoplasia of the lungs, Short thorax |
ORPHA:289 |
Hereditary Acrokeratotic Poikiloderma |
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Joint hypermobility, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2907 |
Holt-Oram Syndrome |
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Hypoplastic scapulae, Small hypothenar eminence, Narrow chest, Elbow dislocation, Sacral dimple, ... |
OMIM:142900 |
Ehlers-Danlos Syndrome, Vascular Type |
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Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... |
OMIM:130050 |
Neonatal Marfan Syndrome |
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Emphysema, Pectus carinatum, Enlarged thorax |
ORPHA:284979 |
Lujo Hemorrhagic Fever |
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Atelectasis |
ORPHA:319213 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Thin ribs, Osteopenia, Delayed cranial suture closure, Joint stiffness, Genu valgum, Supernumerar... |
OMIM:619127 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent pneumonia, Pleural effusion, Atelectasis |
OMIM:306400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Broad ribs, Genu valgum, Limited elbow extension, Hyperlordosis, Hip dislocation |
OMIM:301066 |
Keutel Syndrome |
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Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... |
OMIM:245150 |
Autosomal Recessive Cutis Laxa Type 1 |
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Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia |
ORPHA:90349 |
Generalized Arterial Calcification Of Infancy |
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Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... |
ORPHA:51608 |
Mucopolysaccharidosis Type 2, Severe Form |
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Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of finger, Spinal cana... |
ORPHA:217085 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia |
OMIM:619708 |
Restrictive Dermopathy |
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Thin ribs, Osteopenia, Camptodactyly of finger, Increased anterioposterior diameter of thorax, Mu... |
ORPHA:1662 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal vertebral morphology, Limitation of joint mobility, Camptodactyly of finger, Spinal cana... |
ORPHA:217093 |
Cranioectodermal Dysplasia 2 |
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Narrow chest, Horizontal ribs, Short ribs, Joint hypermobility, Left ventricular hypertrophy, Sho... |
OMIM:613610 |
Sarcoidosis, Susceptibility To, 1 |
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Emphysema, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elev... |
OMIM:181000 |
Fryns Syndrome |
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Thin ribs, Joint contracture of the hand, Thoracic hypoplasia, Broad ribs, Short neck, Camptodact... |
OMIM:229850 |
Townes-Brocks Syndrome |
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Abnormal vertebral morphology, Abnormal vagina morphology, Abnormality of the uterus, Bifid scrot... |
ORPHA:857 |
Alagille Syndrome 1 |
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Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ... |
OMIM:118450 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Charge Syndrome |
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Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Umbilical hernia, Decreased response to... |
OMIM:214800 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Zygomycosis |
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Pneumothorax, Pleural effusion, Acute infectious pneumonia, Atelectasis |
ORPHA:73263 |
Kindler Epidermolysis Bullosa |
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Flexion contracture, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2908 |
Meier-Gorlin Syndrome 6 |
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Emphysema, Recurrent respiratory infections |
OMIM:616835 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Nocardiosis |
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Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis |
ORPHA:31204 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory tract infection, Atelectasis |
ORPHA:365 |
Marfan Syndrome |
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Pectus carinatum, Pulmonary artery dilatation, Emphysema, Pneumothorax, Pectus excavatum |
OMIM:154700 |
22Q11.2 Deletion Syndrome |
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Abnormal thorax morphology, Atelectasis, Abnormal lung lobation |
ORPHA:567 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Emphysema, Pectus excavatum, Abnormal pulmonary interstitial morphology |
OMIM:613658 |
Coccidioidomycosis |
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Abnormality of the vertebral column, Broad ribs, Osteomyelitis, Arthritis, Osteolysis |
ORPHA:228123 |
Marfan Syndrome |
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Pectus carinatum, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Pectus excavatum |
ORPHA:558 |
Noonan Syndrome 1 |
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Abnormal sternum morphology, Hypogonadism, Pectus excavatum of inferior sternum, Kyphoscoliosis, ... |
OMIM:163950 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Emphysema, Pectus excavatum, Pulmonary artery aneurysm, Pulmonary artery dilatation |
OMIM:614437 |
Relapsing Polychondritis |
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Atelectasis |
ORPHA:728 |
Sarcoidosis |
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Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal lung... |
ORPHA:797 |
Autosomal Dominant Cutis Laxa |
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Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis |
ORPHA:90348 |
Osteopetrosis With Renal Tubular Acidosis |
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Prominent floating ribs, Pectus excavatum, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
Wiedemann-Rautenstrauch Syndrome |
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Thin ribs, Narrow chest, Short neck, Delayed closure of the anterior fontanelle, Widely patent fo... |
OMIM:264090 |
Fabry Disease |
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Emphysema |
ORPHA:324 |
Digeorge Syndrome |
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Recurrent pneumonia, Recurrent sinusitis, Atelectasis |
OMIM:188400 |
Proteus Syndrome |
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Asymmetry of the thorax, Rib exostoses, Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation... |
ORPHA:744 |
Viss Syndrome |
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Pectus carinatum, Pulmonary artery aneurysm, Emphysema, Pneumothorax, Pectus excavatum |
OMIM:619472 |
Sotos Syndrome |
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Pectus excavatum, Small cell lung carcinoma, Pulmonary bleb |
ORPHA:821 |