Klippel-Feil Syndrome 3, Autosomal Dominant |
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Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Isolated Klippel-Feil Syndrome |
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Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
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Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Spondylocostal Dysostosis 5 |
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Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... |
OMIM:122600 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal reticulocyte morphology, Short... |
ORPHA:2522 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib morphology, Abnormality of the e... |
ORPHA:3268 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
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Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Joint swelling, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused cervical ve... |
OMIM:612852 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Cervical Rib |
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Cervical ribs |
OMIM:117900 |
Diaphanospondylodysostosis |
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Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... |
ORPHA:66637 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Thoracic hemivertebrae, Fused cervical vertebrae, Prominent metopic ridge, Scoliosis |
OMIM:309620 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
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Abnormal rib morphology, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Vertebral segmentation defect, Vertebral fusion, Short thorax, Sacral dimple |
OMIM:618845 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Asymmetric Short Stature Syndrome |
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Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae |
ORPHA:238722 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Kniest Dysplasia |
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Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... |
ORPHA:485 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
Endosteal Hyperostosis, Worth Type |
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Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Heart Defects-Limb Shortening Syndrome |
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Narrow chest, Kyphosis, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, A... |
ORPHA:1354 |
Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
Kyphomelic Dysplasia |
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Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... |
ORPHA:1801 |
Lamb-Shaffer Syndrome |
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Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Multiple Synostoses Syndrome 2 |
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Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... |
OMIM:610017 |
Wildervanck Syndrome |
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Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Vertebral Hypersegmentation And Orofacial Anomalies |
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Pectus excavatum, Supernumerary nipple, Inguinal hernia, Six lumbar vertebrae, Widow's peak, Join... |
OMIM:619122 |
Frontometaphyseal Dysplasia 1 |
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Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Ankle flexion contrac... |
OMIM:305620 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... |
OMIM:616549 |
Fibrodysplasia Ossificans Progressiva |
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Ectopic ossification in tendon tissue, Scoliosis, Hamartoma, Ectopic ossification in muscle tissu... |
OMIM:135100 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Inguinal hernia, Short... |
OMIM:271520 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia, Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Sprengel Deformity |
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Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Autosomal Dominant Spondylocostal Dysostosis |
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Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... |
ORPHA:1797 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Pectus carinatum, ... |
ORPHA:313892 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Cervical ribs... |
ORPHA:3320 |
Fetal Cytomegalovirus Syndrome |
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Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Kbg Syndrome |
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Delayed skeletal maturation, Short neck, Scoliosis, Thoracic kyphosis, Cervical ribs, Persistent ... |
ORPHA:2332 |
Multiple Pterygium Syndrome, X-Linked |
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Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... |
OMIM:312150 |
Metatropic Dysplasia |
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Narrow chest, Kyphosis, Joint stiffness, Camptodactyly of finger, Scoliosis, Abnormal form of the... |
ORPHA:2635 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Abnormality of the humeroulnar joint, Eunuchoid habitus, Hemivertebrae, Short neck, Abnormal form... |
ORPHA:2234 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Small for gestational age, Pectus carinatu... |
OMIM:617796 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Short neck, Down-sloping shoulders, Pterygium, Rib fusion, Anterior ... |
OMIM:265000 |
Ring Chromosome 21 Syndrome |
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Thoracic hemivertebrae, Abnormal thorax morphology, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Griscelli Syndrome, Type 1 |
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Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Multiple Pterygium Syndrome, Lethal Type |
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Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... |
OMIM:253290 |
Waardenburg Syndrome, Type 1 |
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Sprengel anomaly, Thick eyebrow, Blue irides, Supernumerary vertebrae, Partial albinism, White ey... |
OMIM:193500 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
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Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Osteogenesis Imperfecta, Type Ix |
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Kyphosis, Recurrent fractures, Pectus excavatum, Decreased calvarial ossification, Platyspondyly,... |
OMIM:259440 |
Fanconi Anemia, Complementation Group I |
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Decreased body weight, Short neck, Fused cervical vertebrae, Neutropenia, Bone marrow hypocellula... |
OMIM:609053 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Cervical C2/C3 vertebral fusion, Overweight |
ORPHA:370010 |
Mesomelic Dysplasia, Kantaputra Type |
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Vertebral segmentation defect, Camptodactyly of finger, Abnormality of the ankles, Synostosis of ... |
ORPHA:1836 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
Spondylometaphyseal Dysplasia, Axial |
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Narrow chest, Splenomegaly, Platyspondyly, Scoliosis, Anterior rib cupping, Thoracic hypoplasia |
OMIM:602271 |
Spondylometaphyseal Dysplasia, A4 Type |
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Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility |
ORPHA:168555 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Thoracolaryngopelvic Dysplasia |
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Irregular vertebral endplates, Slender build, Irregular chondrocostal junctions, Short ribs, Scol... |
OMIM:187760 |
Stapes Ankylosis With Broad Thumbs And Toes |
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Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Griscelli Syndrome, Type 3 |
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Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Sprengel anomaly, Pectus excavatum, Butterfly vertebrae, Spina bifida occulta, Fused cervical ver... |
OMIM:619227 |
Spondylometaphyseal Dysplasia, Type A4 |
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Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Irregular patellae, O... |
OMIM:609052 |
Verheij Syndrome |
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Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion |
OMIM:615583 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
Basal Cell Nevus Syndrome |
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Hemivertebrae, Down-sloping shoulders, Basal cell carcinoma, Ovarian carcinoma, Vertebral wedging... |
OMIM:109400 |
Keratoconus Posticus Circumscriptus |
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Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Interverteb... |
ORPHA:93315 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal rib morphology, Cachexia, Abnormality of the spleen, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
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Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... |
OMIM:263540 |
Mantle Cell Lymphoma |
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Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Atelosteogenesis, Type I |
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Narrow chest, Knee dislocation, Long clavicles, Short neck, 11 pairs of ribs, Bell-shaped thorax,... |
OMIM:108720 |
Metatropic Dysplasia |
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Enlarged joints, Platyspondyly, Anisospondyly, Genu valgum, Abnormal enchondral ossification, Del... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Irregular vertebral endplates, Dislocated radial head, Knee dislocation, Thin ribs, Short neck, P... |
OMIM:618395 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
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Vertebral segmentation defect, Short neck, Abnormal rib morphology |
ORPHA:2578 |
Gorlin Syndrome |
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Neoplasm, Hemivertebrae, Vertebral fusion, Scoliosis, Vertebral wedging |
ORPHA:377 |
Mosaic Trisomy 20 |
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Spinal canal stenosis, Kyphosis, Vertebral segmentation defect, Narrow chest, Limited pronation/s... |
ORPHA:1724 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Kyphosis, Hypopigmentation of the skin, Hypopigmentation of hair, Platyspondyly, Osteoporosis, Al... |
ORPHA:2786 |
Chromosome 8Q22.1 Duplication Syndrome |
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Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... |
OMIM:151200 |
Becker Nevus Syndrome |
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Rib fusion, Kyphosis, Pectus excavatum, Hypermelanotic macule, Supernumerary nipple, Lipoatrophy,... |
ORPHA:64755 |
Osteogenesis Imperfecta, Type Xv |
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Recurrent fractures, Thin ribs, Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs du... |
OMIM:615220 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Aarskog-Scott Syndrome |
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Pectus excavatum, Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of f... |
ORPHA:915 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Osteoarthritis, Platyspondyly, Synostosis of carpal bones, Osteoporosis, Pectus carinatum, Abnorm... |
ORPHA:93351 |
Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Pectus excavatum, Abnormal rib cage morphology, Short neck, Bi... |
OMIM:130720 |
Sifrim-Hitz-Weiss Syndrome |
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Fused cervical vertebrae, Short clavicles, Wormian bones, Flat acetabular roof |
OMIM:617159 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
Poland Syndrome |
|
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs |
OMIM:173800 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Mosaic Trisomy 14 |
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Narrow chest, Failure to thrive, Camptodactyly of finger, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Pectus carinatum, Enlarg... |
OMIM:271650 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Horizontal ribs, Lateral clavicle... |
OMIM:617405 |
Congenital Disorder Of Glycosylation, Type Iig |
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Vertebral segmentation defect, Butterfly vertebrae, Osteopenia, Short neck, Scoliosis, Camptodact... |
OMIM:611209 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
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Sprengel anomaly, Hemivertebrae, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib m... |
ORPHA:2180 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... |
ORPHA:90650 |
Diastrophic Dysplasia |
|
Kyphosis, Joint stiffness, Abnormal clavicle morphology, Joint dislocation, Increased bone minera... |
ORPHA:628 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, D... |
ORPHA:93267 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:607155 |
Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology, ... |
ORPHA:1486 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hypopigmentation of the skin, Childhood-onset truncal obesit... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hypopigmentation of the skin, Childhood-onset truncal obesit... |
ORPHA:71526 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... |
ORPHA:3027 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Anterior vertebral fusion, Long clavicles, Shoulder dislocation, Genu varum, Radioulnar synostosi... |
OMIM:171480 |
Frontometaphyseal Dysplasia |
|
Sprengel anomaly, Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand,... |
ORPHA:1826 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Growth Hormone Insensitivity Syndrome |
|
Delayed skeletal maturation, Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypog... |
ORPHA:181393 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Thin ribs, Small for gestational age, Platyspondyly, Wormian bones, Bell-sha... |
OMIM:166210 |
Axial Spondylometaphyseal Dysplasia |
|
Narrow chest, Thoracic scoliosis, Delayed ossification of carpal bones, Short ribs, Osteopenia, P... |
ORPHA:168549 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, Delayed skeletal maturation, Carpal synostosis, C2-C3 subluxation,... |
OMIM:272460 |
Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Genu varum, Carpal bone hypopl... |
OMIM:274000 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Thin ribs, Short ribs, Disc-like vertebral bodies, Decreased cranial base ossificat... |
OMIM:151210 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology, White forelock, Delayed skeletal... |
ORPHA:2475 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Delayed ossific... |
OMIM:609616 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hypertrichosis, Pectus excavatum, Craniosynostosis, Hemivertebrae, Short neck, Large for gestatio... |
OMIM:213980 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of the distal... |
ORPHA:83617 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Joint stiffness, Failure to thrive, Splenomegaly, Short neck, Genu valgum, Broad ribs, ... |
ORPHA:583 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Camptodactyly of finger, Short neck, Scolios... |
ORPHA:2311 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Juberg-Hayward Syndrome |
|
Scoliosis, Abnormality of the elbow, Radioulnar synostosis, Abnormal rib morphology, Abnormality ... |
ORPHA:2319 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology, Missing ribs, Join... |
ORPHA:2759 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... |
ORPHA:268882 |
Dyggve-Melchior-Clausen Disease |
|
Beaking of vertebral bodies, Failure to thrive, Hypoplastic acetabulae, Atlantoaxial instability,... |
ORPHA:239 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Pectus excavatum, Generalized joint laxity, Shoulder subluxation, Short neck,... |
ORPHA:508498 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Joint hyperf... |
ORPHA:2097 |
3Q29 Microdeletion Syndrome |
|
Failure to thrive, Pectus excavatum, Pectus carinatum, Six lumbar vertebrae, Abnormality of skin ... |
ORPHA:65286 |
Hypophosphatasia |
|
Narrow chest, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Anemia, Failure to ... |
ORPHA:436 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... |
OMIM:203500 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Small for gestational age, Osteopenia,... |
OMIM:616229 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Scoliosis, Radioulnar synostosis, Ab... |
ORPHA:1988 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Lipoma, Hepatoblastoma, Teratoma, Hemivertebrae, Hem... |
OMIM:304050 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Hirsutism, Inguinal hernia, Coarse hair, Scoliosis, Ovoid thorac... |
OMIM:252900 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... |
OMIM:608971 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Pectus excavatum, Scoliosis, Hip dislocation, Vertebral ... |
ORPHA:96169 |
Postaxial Acrofacial Dysostosis |
|
Pectus excavatum, Supernumerary nipple, Supernumerary vertebrae, Congenital hip dislocation, Radi... |
OMIM:263750 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Reduced bone mineral density, Platyspondyly, ... |
ORPHA:582 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum, Joint hypermo... |
OMIM:602196 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hypothalamic hamartoma, Hemivertebrae, Vertebral hypoplasia, Mis... |
OMIM:206900 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Scoliosis, Anterior rib cupping, Pectus carinatum, Hyperlordosis, C1-C2 subluxatio... |
OMIM:184250 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Abnormal enchondral ossification |
ORPHA:93298 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... |
OMIM:187601 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Obesity, Tracheomalacia, Splenomegaly |
OMIM:616368 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Delayed skeletal maturation, Failure to thrive, Small for gestational age, Persiste... |
OMIM:260400 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Failure to thrive, Scoliosis, Fused cervical vertebrae, Joint laxi... |
OMIM:157800 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Joint stiffn... |
OMIM:230500 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Scoliosis, Spina bifida occulta |
OMIM:607323 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Delayed skeletal maturation, Neutropenia |
ORPHA:2643 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Dense calvaria |
OMIM:252920 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Delayed skeletal maturation, Kyphoscoliosis, Delayed ossification of carpal bone... |
OMIM:184252 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Large elbow, Prominent sternum, Anterior beaking of lumbar vertebrae, Platyspondyly, Sh... |
OMIM:253000 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Carpal synostosis, Failure to thrive, Increased bone mineral density, Abnormal vert... |
ORPHA:90652 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Humeroradial synostosis, Craniosynostosis, Coronal craniosynosto... |
OMIM:101200 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Beaking of vertebral bodies, Hirsutism, Hypertrichosis, Kyphoscoliosis, Joint sti... |
OMIM:252930 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
Cartilage-Hair Hypoplasia |
|
Narrow chest, Lumbar hyperlordosis, Lymphopenia, Prominent sternum, Narrow vertebral interpedicul... |
OMIM:250250 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the eyebrow, Hernia of the abdominal wall, Short neck, Pectus car... |
ORPHA:3082 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Kyphoscoliosis, Short ribs, Elbow flexion contracture, Arthrogryposis multiplex ... |
ORPHA:1145 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obesity, Lateral clavicle ... |
OMIM:615633 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Joint stiffness, Abnormal clavicle morphology, Pectus excavatum, Down... |
ORPHA:392 |
Kbg Syndrome |
|
Delayed skeletal maturation, Rib fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, C... |
OMIM:148050 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Recurrent fractures, Thin ribs, Decreased calvarial ossification, Biconcave vertebral b... |
OMIM:259420 |
Waardenburg Syndrome Type 1 |
|
Sprengel anomaly, Thick eyebrow, Hypopigmentation of hair, Scoliosis, White eyebrow, White eyelas... |
ORPHA:894 |
Frontometaphyseal Dysplasia 2 |
|
Dislocated radial head, Hip contracture, Pectus excavatum, Congenital hip dislocation, Scoliosis,... |
OMIM:617137 |
Renpenning Syndrome |
|
Sprengel anomaly, Joint stiffness, Pectus excavatum, Abnormal hairshaft morphology, Alopecia, Cac... |
ORPHA:3242 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm |
ORPHA:87 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... |
OMIM:619698 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hepatoblastoma, Scoliosis, Multiple lipomas, Intesti... |
ORPHA:50 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Prune Belly Syndrome |
|
Vertebral segmentation defect, Failure to thrive, Pectus excavatum, Congenital hip dislocation, S... |
ORPHA:2970 |
Koolen-De Vries Syndrome |
|
Kyphosis, Failure to thrive, Pectus excavatum, Spondylolisthesis, Small for gestational age, Prom... |
OMIM:610443 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Short neck, Abnormality of the spleen, Abnormal form of the verteb... |
ORPHA:1834 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Pectus excavatum, Lumbar hyperlordosis, Platyspondyly, Limited elbow extension, Ovoid vertebral b... |
OMIM:608728 |
Galactose Epimerase Deficiency |
|
Weight loss, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... |
OMIM:618963 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Abnormal form of the vertebral bod... |
ORPHA:2021 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Splenomegaly |
ORPHA:3035 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly, Ovoid vertebral bodies, Cupped ribs |
OMIM:608940 |
Pseudoachondroplasia |
|
Limited hip extension, Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Irregular car... |
OMIM:177170 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Multiple rib fractures, Short neck, Short thorax, Abnormal enc... |
ORPHA:93299 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Thick eyebrow, Vertebral segmentation def... |
ORPHA:1394 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin ribs, Biconcave vertebral bodies, Wormian bones, Joint laxity, Vertebra... |
OMIM:617952 |
Schneckenbecken Dysplasia |
|
Narrow chest, Advanced ossification of carpal bones, Narrow vertebral interpedicular distance, Sh... |
OMIM:269250 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Abnormality of retinal p... |
ORPHA:474 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short neck, Scoliosis, Biconcave vertebral bodies, Broad ribs |
OMIM:610319 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Cooper-Jabs Syndrome |
|
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... |
ORPHA:1488 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Prominent sternum, Platyspondyly, Scoliosis, Osteoporosis, Ulnar deviation of the wrist... |
OMIM:253010 |
Phaver Syndrome |
|
Joint stiffness, Butterfly vertebrae, Camptodactyly of finger, Abnormal form of the vertebral bod... |
ORPHA:2876 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Anterior rib cupping, Genu va... |
ORPHA:174 |
Melnick-Needles Syndrome |
|
Narrow chest, Short clavicles, Delayed cranial suture closure, Scoliosis, Abnormal rib morphology... |
ORPHA:2484 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, 11 pairs of ribs, Decreased skull ossification, Thin ribs |
OMIM:300863 |
Cole-Carpenter Syndrome |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, A... |
ORPHA:2050 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Pectus excavatum, Abnormal rib cage morphology, Down-sloping shoulders, Camptodactyly, Vertebral ... |
OMIM:227330 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Enlarged thorax, Thin ribs, Short neck, Scoliosis, Congenit... |
ORPHA:2616 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Osteoarthritis, Platyspondyly, Irregular sclerotic endplates, Pear-shaped vertebrae, Genu varum, ... |
OMIM:602111 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Recurrent fractures, Decreased calvarial ossification, Joint hyperflexib... |
ORPHA:2772 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Az... |
OMIM:602390 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Thin ribs, Small for gestational age, Short neck, Pectus carinatum, Hyperlo... |
OMIM:612921 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune thrombocytopen... |
OMIM:614470 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Hemivertebrae, Pectus excavatum, Posterior rib fusion, Abnormal rib cage morphology |
OMIM:608406 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed skeletal maturation, Rib fusion, Dislocated radial head, Pectus excavatum, Hypoplastic sa... |
OMIM:268310 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Delayed skeletal maturation, Prominent sternum, Thin ribs, Flexion contracture, Platyspondyly, Sh... |
OMIM:300232 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Neoplasm, Pectus excavatum, Neuroblastoma, Hepatoblastoma, Acceler... |
ORPHA:373 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Multiple rib fractures, Short ribs, Osteopenia, Small for gestational age, P... |
OMIM:616897 |
Dyggve-Melchior-Clausen Disease |
|
Prominent sternum, Barrel-shaped chest, Platyspondyly, Short neck, Pectus carinatum, Genu valgum,... |
OMIM:223800 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Horizontal ribs, Short ribs |
OMIM:200610 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cho... |
ORPHA:79301 |
Cantú Syndrome |
|
Narrow chest, Generalized hirsutism, Low anterior hairline, Thick eyebrow, Accelerated skeletal m... |
ORPHA:1517 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Prominent floating ribs |
OMIM:152800 |
Achondrogenesis, Type Ia |
|
Narrow chest, Short clavicles, Short ribs, Hypoplastic sacrum, Barrel-shaped chest, Short neck, B... |
OMIM:200600 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Low back pain, Pancytopenia, Bone mar... |
ORPHA:86843 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Spinal canal stenosis, Calcaneal epiphyseal stippling, Butterfly vertebrae, Abnormal ossification... |
ORPHA:79345 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Spinal canal stenosis, Fair hair, Blue irides, Accelerated skeletal maturation, Diabetes mellitus... |
OMIM:614613 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Pectus excavatum, Thin ribs, Coronal craniosynostosis, Osteopenia, Platyspondyly, Wormi... |
OMIM:616294 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
Cenani-Lenz Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Synostosis of carpal bones, Radioulnar synostos... |
ORPHA:3258 |
Osteogenesis Imperfecta, Type X |
|
Narrow chest, Thin ribs, Generalized joint laxity, Osteopenia, Platyspondyly, Scoliosis, Genu val... |
OMIM:613848 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Decreased body weight, Arthrogryposis multiplex congenita, Thin ribs, Craniosynostosis |
OMIM:618265 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs, Autoimmune thrombocytopenia |
OMIM:601389 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Anemia |
OMIM:613313 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Asymmetry of the thorax, Thin ribs, Wormian bones, Limited elbow exten... |
OMIM:604922 |
Acrocapitofemoral Dysplasia |
|
Narrow chest, Pectus excavatum, Lumbar hyperlordosis, Delayed ossification of carpal bones, Short... |
OMIM:607778 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Poland Syndrome |
|
Vertebral segmentation defect, Kyphosis, Sprengel anomaly, Abnormal sternum morphology, Asymmetry... |
ORPHA:2911 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Hyperlordosis, Abnormal rib morphology, Delayed skeletal maturation, Limitation... |
ORPHA:3068 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, B-cell lymphoma, Lymphopenia, Splenomegaly, Aplasia of the thymus, Horizontal ... |
OMIM:102700 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Narrow chest, Sclerosis of skull base, Hypoplastic vertebral bodie... |
OMIM:224300 |
Hodgkin Lymphoma |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Fibrochondrogenesis 1 |
|
Widely patent coronal suture, Widely patent sagittal suture, Joint contracture of the hand, Thin ... |
OMIM:228520 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... |
ORPHA:545 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Monosomy 9Q22.3 |
|
Kyphosis, Pectus excavatum, Medulloblastoma, Accelerated skeletal maturation, Odontogenic keratoc... |
ORPHA:77301 |
Myhre Syndrome |
|
Joint stiffness, Small for gestational age, Platyspondyly, Enlarged vertebral pedicles, Short nec... |
OMIM:139210 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dysplasia, Absent eyebrow, Inguinal hernia, Alopecia, Unilateral chest hypoplasia, Abnormali... |
OMIM:308205 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Ascites, Premature ovarian insufficiency, Lymphadenopathy |
ORPHA:100025 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Osteopenia, Thin ribs, Short ribs |
OMIM:618188 |
Wolf-Hirschhorn Syndrome |
|
Delayed skeletal maturation, Kyphosis, Rib fusion, Abnormal sternal ossification, Failure to thri... |
OMIM:194190 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Widely patent fontanelles and sutures, Fail... |
OMIM:600081 |
Waardenburg Syndrome, Type 3 |
|
Carpal synostosis, Premature graying of hair, Blue irides, Joint contracture of the hand, Camptod... |
OMIM:148820 |
Alagille Syndrome |
|
Vertebral segmentation defect, Failure to thrive, Abnormal form of the vertebral bodies, Spina bi... |
ORPHA:52 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Kyphosis, Joint dislocation, Platyspondyly, Joint hyperflexibility, Hyposegmentation of neutrophi... |
OMIM:618019 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
Cartilage-Hair Hypoplasia |
|
Narrow chest, Failure to thrive, Abnormal bone ossification, Accelerated skeletal maturation, Abn... |
ORPHA:175 |
Holzgreve Syndrome |
|
Abnormal rib morphology, Joint stiffness, Abnormally ossified vertebrae |
ORPHA:2167 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Broad ribs, Stiff neck |
OMIM:617022 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Recurrent fractures, Thin ribs, Osteopenia, Barrel-shaped chest, Platyspondyly, Scolios... |
OMIM:610915 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Delayed skeletal maturation, Failure to thrive, Bell-shaped thorax, Horizontal ribs, Neutropenia,... |
OMIM:614857 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
Campomelia, Cumming Type |
|
Abnormal rib morphology, Myelodysplasia, Abnormal thorax morphology, Abnormally ossified vertebrae |
ORPHA:1318 |
Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Thin ribs, Hemiver... |
ORPHA:958 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools |
OMIM:619868 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyebrow, Alopecia, Osteolysis, Delayed closure of the anterior fontanelle, Joint stiffness... |
OMIM:614008 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Small for gestational age, Diabetic... |
OMIM:262190 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Irregular chondrocostal junctions, Lumbar hyperlordosis, Short ribs, Flat glenoid fossa, Scoliosi... |
OMIM:250420 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Radioulnar synostosis, Abnormal rib morphology, Patellar aplasia, Delayed... |
OMIM:617604 |
Mosaic Trisomy 8 |
|
Vertebral segmentation defect, Narrow chest, Camptodactyly of finger, Short neck, Scoliosis, Abno... |
ORPHA:96061 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
Immunodeficiency 64 |
|
Failure to thrive, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unre... |
OMIM:618534 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Anterior rib c... |
ORPHA:2347 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Abnormality of the vertebral column, Abnormal rib morphology, Hemato... |
ORPHA:1163 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Craniosynostosis, Short ribs, Shallow acetabular fossae, Scoliosis, Carpa... |
OMIM:252600 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Osteopenia, Wormian bones, Vertebral arch anomaly, Broad ribs |
ORPHA:85184 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Thin ribs, Small for gestational age |
OMIM:615368 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Short ribs, ... |
OMIM:187600 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Recurrent fractures, Scoliosis, Abnormal form of the vertebral bodies, Aplastic clavicl... |
ORPHA:2769 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Red hair, Hypoglycemic seizures |
OMIM:609734 |
Occipital Horn Syndrome |
|
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Platyspondyly, Broad clavicles, Pectus... |
OMIM:304150 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Thin clavicles, Delayed closure of the anterior fontanelle, Calvarial ... |
OMIM:244460 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Craniosynostosis, Short neck, Abnormal rib morphology, Humeroradial synostosis |
OMIM:251230 |
Pfapa Syndrome |
|
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Cyanosis, Osteomalacia, Abnormal calcification of the carpal bones, Fai... |
ORPHA:51608 |
Meier-Gorlin Syndrome 1 |
|
Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Delayed skeletal maturation, ... |
OMIM:224690 |
Craniofaciofrontodigital Syndrome |
|
Pectus excavatum, Hypoplastic vertebral bodies, Short neck, Broad ribs, Cubitus valgus, Joint hyp... |
OMIM:114620 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Hurler Syndrome |
|
Spinal canal stenosis, Abnormal clavicle morphology, Splenomegaly, Camptodactyly of finger, Short... |
ORPHA:93473 |
Robinow Syndrome |
|
Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Small for gestational age, Hemivertebrae, S... |
ORPHA:97360 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs |
ORPHA:163966 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Flexion contracture, Thin ribs |
OMIM:614833 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Trisomy 13 |
|
Narrow chest, Kyphosis, Scoliosis, Abnormal rib morphology, Capillary hemangioma |
ORPHA:3378 |
Brittle Cornea Syndrome 1 |
|
Spondylolisthesis, Dentinogenesis imperfecta, Congenital hip dislocation, Scoliosis, Joint laxity... |
OMIM:229200 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Craniosynostosis, Reduced bone mineral density, Rachitic rosary, Ge... |
ORPHA:89936 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Narrow chest, Abnormal bone ossification, Thin ribs, Hepatic hemangioma, Abnormal form of the ver... |
ORPHA:73230 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hirsutism, Pectus excavatum, Abnormal bone ossification, Eunuchoid habitus, Thin ribs, Osteopenia... |
ORPHA:2463 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Thin ribs, Long clavicles, Splenomegaly, Flexion contracture, Bell-shaped thorax |
OMIM:608149 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... |
ORPHA:444077 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Craniometadiaphyseal Dysplasia |
|
Sclerosis of skull base, Osteopenia, Scoliosis, Wormian bones, Genu varum, Genu valgum, Broad rib... |
OMIM:269300 |
Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Platyspondyly, Short neck, Broad ribs, Co... |
OMIM:245190 |
Ataxia-Telangiectasia |
|
Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Hypopigmentation of hair... |
ORPHA:100 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Failure to thrive, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Obesity |
ORPHA:261197 |
Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Abnormal vertebral segmentation and fusion, Short neck, Abnormal for... |
ORPHA:233 |
Cog1-Cdg |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Butterfly vertebrae, Posterior rib gap... |
ORPHA:263508 |
Cleidocranial Dysplasia |
|
Narrow chest, Recurrent fractures, Short clavicles, Down-sloping shoulders, Scoliosis, Osteoporos... |
ORPHA:1452 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Gracile Bone Dysplasia |
|
Failure to thrive, Thin ribs, Hypoplastic spleen, Decreased skull ossification, Asplenia |
OMIM:602361 |
Antley-Bixler Syndrome |
|
Narrow chest, Joint stiffness, Recurrent fractures, Elbow ankylosis, Craniosynostosis, Delayed cr... |
ORPHA:83 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hepatic steatosis |
OMIM:612526 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Failure to thrive, Pectus excavatum, Abnormal sternum ... |
ORPHA:2990 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum |
OMIM:211380 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decr... |
OMIM:618495 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Abnormality of the men... |
ORPHA:905 |
Mucopolysaccharidosis, Type Vi |
|
Avascular necrosis, Joint stiffness, Kyphoscoliosis, Lumbar hyperlordosis, Prominent sternum, Hyp... |
OMIM:253200 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Accelerated skeletal maturation, Abnormal scapula morphology, Platyspondyly, Abnorm... |
ORPHA:93317 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:177910 |
Schwartz-Jampel Syndrome |
|
Pectus excavatum, Abnormally ossified vertebrae, Short neck, Platyspondyly, Pectus carinatum, Gen... |
ORPHA:800 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Thin clavicles, Delayed cranial suture closure, Calvarial osteosclerosis, Delayed skel... |
ORPHA:93324 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormal rib morphology, Abnormal intervertebral disk morphology, ... |
ORPHA:887 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Mucopolysaccharidosis, Type Iiid |
|
Thickened ribs, Joint stiffness, Thoracic scoliosis, Hypoplastic vertebral bodies, Splenomegaly, ... |
OMIM:252940 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Platyspondyly, Short neck, 11 pairs of ribs, Ge... |
OMIM:271640 |
Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia, Alopecia, Congenital hip dislocation, Abnormal fingernail morpho... |
ORPHA:1647 |
Xylt1-Cdg |
|
Hirsutism, Short clavicles, Joint dislocation, Accelerated skeletal maturation, Truncal obesity, ... |
ORPHA:370930 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Hypocholesterolemia, Elbow flexion contracture, Knee flexion co... |
OMIM:618156 |
Acromesomelic Dysplasia 4 |
|
Beaking of vertebral bodies, Hypertrichosis, Thoracic scoliosis, Thick eyebrow, Prominent sternum... |
OMIM:619636 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropi... |
OMIM:235200 |
Radio-Renal Syndrome |
|
Abnormal rib morphology, Short neck, Abnormal form of the vertebral bodies, Abnormality of the elbow |
ORPHA:3015 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Hypertrichosis, Pectus excavatum, Short sternum, Supernumerary nip... |
OMIM:312870 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thyroid carcinoma, Abnormal lumbar spine morphology, Scoliosis, Tes... |
ORPHA:249 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Coat hanger sign of ribs, Large for gestational age, Umbilical hernia,... |
ORPHA:254534 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Horizontal ribs, Omphalocele, Thoracic hypoplasia, Lateral clavicle hook |
OMIM:617895 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Missing ribs, Abnormally ossified vertebrae |
ORPHA:3301 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Anterior rib cupping, Carpal bone hypoplasia... |
OMIM:184253 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Incontinentia Pigmenti |
|
Nail dysplasia, Kyphoscoliosis, Scarring, Sparse hair, Supernumerary nipple, Alopecia, Hemiverteb... |
OMIM:308300 |
Osteogenesis Imperfecta |
|
Pectus excavatum, Osteopenia, Biconcave vertebral bodies, Pectus carinatum, Genu valgum, Thoracic... |
ORPHA:666 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Recurrent fractures, Pectus excavatum, Multiple rib fractures, Osteopenia, Decrease... |
OMIM:610682 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Pectus excavatum, Prominent metopic ridge, Camptodactyly of finger, Scoliosis, Abnormal... |
ORPHA:2215 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Pectus excavatum, Genu recurvatum, Joint contracture of the hand, Thin ri... |
OMIM:182212 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Limitation of joint mobility, Hepatoblastoma, Coat hanger sign of ribs, Short nec... |
ORPHA:254519 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Pyknoachondrogenesis |
|
Enlarged thorax, Sclerosis of skull base, Unossified sacrum, Short ribs, Poorly ossified vertebra... |
ORPHA:3003 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Joint hypermobility |
ORPHA:456328 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Lymphocytosis, Abnormality of the lymph nodes, Lymphoproliferative disorder, E... |
ORPHA:911 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Ja... |
OMIM:613812 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Weight ... |
ORPHA:507 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Obesity, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411515 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic ... |
OMIM:601847 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Supernumerary nipple, Short ribs, Abnormal rib morphology, Broad ribs |
ORPHA:2519 |
Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Thin ribs, Increased connective tissue, Abnormal thorax morphology, Arthrogr... |
ORPHA:171430 |
Piebaldism |
|
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... |
ORPHA:2884 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... |
ORPHA:824 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair, Weight loss |
ORPHA:2221 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Joint stiffness, Pectus carinatum, Hypogl... |
OMIM:609069 |
Kyphomelic Dysplasia |
|
Limitation of joint mobility, Undulate ribs, Platyspondyly, Anterior rib cupping, Pterygium, Flat... |
OMIM:211350 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... |
OMIM:612714 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... |
ORPHA:848 |
Muenke Syndrome |
|
Carpal synostosis, Hypermelanotic macule, Coronal craniosynostosis, Hypopigmentation of hair, Tar... |
ORPHA:53271 |
Menkes Disease |
|
Narrow chest, Recurrent fractures, Pectus excavatum, Woolly hair, Sparse hair, Osteomyelitis, Ing... |
ORPHA:565 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Deafness-Lymphedema-Leukemia Syndrome |
|