| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature... |
OMIM:608681 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Death in infancy, Ve... |
OMIM:277300 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Spondylocostal Dysostosis 5 |
|
Severe short stature, Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short n... |
OMIM:122600 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Short statur... |
ORPHA:3268 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Short thorax, Intrauterine growth retardation, Vertebral segmentation defec... |
ORPHA:1797 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Poland Syndrome |
|
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh... |
ORPHA:1354 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ... |
OMIM:609052 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,... |
ORPHA:1988 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2790 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... |
OMIM:615401 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... |
OMIM:156530 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... |
OMIM:613686 |
| Kyphomelic Dysplasia |
|
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... |
ORPHA:1801 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Pectus excavatum, Sp... |
ORPHA:64755 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Metatropic Dysplasia |
|
Severe short stature, Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebra... |
ORPHA:2635 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, Short thorax, ... |
ORPHA:2311 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... |
ORPHA:163665 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Severe short stature, Limitation of joint mobility, Coxa vara, Flared, irregular r... |
ORPHA:168555 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po... |
OMIM:618728 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Recurrent fractures, ... |
OMIM:259440 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Joint s... |
ORPHA:40 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... |
OMIM:602271 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Short stature, Abnormal rib morphology |
ORPHA:2435 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona... |
ORPHA:168549 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Disproportionate short stature, Hypoplastic iliac wing, Lumbar hyperlordosis, Enla... |
OMIM:609616 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Limitation of joint mobility, Abnorm... |
ORPHA:93351 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Death in infancy, Sh... |
OMIM:617405 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... |
OMIM:607271 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Postnatal growth retardation, Short neck, Short foot, Post... |
OMIM:611209 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
| Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... |
ORPHA:1394 |
| Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Metaphyseal irregularity, Multiple joint dislocation, Short femoral nec... |
OMIM:618395 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Disproportionate short-limb short stature, Metaphyseal spurs, Posterior rib cuppin... |
OMIM:608728 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ... |
ORPHA:628 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Di... |
OMIM:184250 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender ... |
OMIM:259420 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... |
OMIM:615592 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ... |
ORPHA:1486 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2578 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol... |
OMIM:265000 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... |
ORPHA:457083 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphol... |
ORPHA:93267 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Thin ribs, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s... |
OMIM:615220 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
| Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Severe short stature, Toe syndactyly, Short thumb, Intrauterine gr... |
ORPHA:2319 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr... |
OMIM:184252 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Thanatophoric Dysplasia, Type Ii |
|
Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Narrow chest, Flared metaphysi... |
OMIM:187601 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... |
OMIM:614524 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Vertebral segmentation defect |
ORPHA:2956 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... |
ORPHA:2234 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... |
OMIM:151210 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... |
ORPHA:2021 |
| Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Advanced ossification of carpal bones, Narrow chest, Thoraci... |
OMIM:269250 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... |
OMIM:102510 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r... |
ORPHA:2522 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... |
OMIM:228520 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... |
OMIM:602111 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Hy... |
OMIM:300863 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Finger syndactyly, Arthrog... |
ORPHA:2990 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus |
OMIM:614688 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Arachnodactyly, Rib fu... |
ORPHA:377 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... |
OMIM:610915 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Craniodiaphyseal Dysplasia |
|
Short stature, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Disproportionate short-limb short stature, ... |
ORPHA:1803 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu... |
ORPHA:85184 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Rib fusion, Hand polydactyly, Craniosynostosis, Scoliosis |
ORPHA:261197 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Melnick-Needles Syndrome |
|
Anisospondyly, Craniofacial hyperostosis, Short distal phalanx of finger, Narrow chest, Short tho... |
ORPHA:2484 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho... |
OMIM:166210 |
| Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax... |
OMIM:255710 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Joint dislocation, ... |
ORPHA:582 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... |
ORPHA:2347 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportio... |
OMIM:253000 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Kbg Syndrome |
|
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the... |
OMIM:148050 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... |
OMIM:268310 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
| Thanatophoric Dysplasia, Type I |
|
Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Disproportionate... |
OMIM:187600 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Narrow chest, Postnatal growth retardation, Overlapping toe, Joint hypermobility, Rib fusion, Sho... |
OMIM:213980 |
| Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... |
ORPHA:392 |
| Cog1-Cdg |
|
Posterior rib gap, Osteopenia, Rhizomelia, Postnatal growth retardation, Butterfly vertebrae, Kyp... |
ORPHA:263508 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... |
OMIM:601859 |
| Microphthalmia, Syndromic 3 |
|
Postnatal growth retardation, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, ... |
OMIM:206900 |
| Achondrogenesis Type 1B |
|
Severe short stature, Narrow chest, Disproportionate short stature, Abnormal enchondral ossificat... |
ORPHA:93298 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... |
ORPHA:2097 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... |
ORPHA:163966 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Abnormal metaph... |
ORPHA:2050 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Dysplastic sacrum, Wide dista... |
OMIM:613320 |
| 3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ... |
ORPHA:2616 |
| Three M Syndrome 1 |
|
Short 5th finger, Growth delay, Slender long bone, Joint dislocation, Postnatal growth retardatio... |
OMIM:273750 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... |
ORPHA:66637 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Advanced tarsal ossification, Sho... |
OMIM:215045 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Neonatal death, Radial head subluxation, Hip dislocat... |
OMIM:146510 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... |
ORPHA:444463 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Narrow chest, Rhizomelia, Decreased calvarial ossification, Bowing of ... |
OMIM:616229 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Disproportionate short-limb short stature, Bowing of the arm, Bell-shaped thorax, ... |
OMIM:619131 |
| Achondrogenesis, Type Ii |
|
Disproportionate short-limb short stature, Broad long bones, Short tubular bones of the hand, Hyp... |
OMIM:200610 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... |
OMIM:250420 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of skull base, Genu valgum... |
OMIM:269300 |
| Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... |
ORPHA:2876 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... |
ORPHA:3082 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bell-s... |
OMIM:200600 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618108 |
| Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Elbow dislocation, Sh... |
ORPHA:1507 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... |
OMIM:300232 |
| Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... |
OMIM:620601 |
| Mosaic Trisomy 14 |
|
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... |
ORPHA:2180 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the ha... |
OMIM:184253 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared... |
ORPHA:93352 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Thin ribs, Osteopenia, Lambdoidal craniosynostosis, Coronal craniosynostosis, Post... |
OMIM:616294 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Osteopenia,... |
OMIM:613848 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... |
OMIM:118100 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Joint hyperm... |
ORPHA:1488 |
| Aicardi Syndrome |
|
Block vertebrae, Small hand, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, D... |
ORPHA:50 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intrauterine growth retardation, Tibial bowing, Lower limb undergrowth, Bowing of ... |
ORPHA:3035 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Dis... |
OMIM:602557 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Achondrogenesis Type 1A |
|
Severe short stature, Narrow chest, Abnormal enchondral ossification, Multiple rib fractures, Sho... |
ORPHA:93299 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Joint hypermobility, Arachnodactyly, Missing ribs, Hemiver... |
ORPHA:2759 |
| Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver... |
OMIM:610682 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Dysosteosclerosis |
|
Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver... |
OMIM:224300 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Joint hypermobility, Sprengel anomaly, Abnorma... |
ORPHA:2475 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Aicardi Syndrome |
|
Block vertebrae, Postnatal growth retardation, Butterfly vertebrae, Missing ribs, Supernumerary r... |
OMIM:304050 |
| Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bo... |
OMIM:617952 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s... |
OMIM:215140 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... |
ORPHA:73230 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Sprengel ... |
OMIM:134780 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Slender long bone, Abnor... |
ORPHA:1506 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... |
ORPHA:280 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar... |
ORPHA:79345 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, ... |
OMIM:218600 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... |
OMIM:615633 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon... |
OMIM:611717 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
| Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t... |
OMIM:253010 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
| Three M Syndrome 2 |
|
Thin ribs, Short 5th finger, Pectus carinatum, Severe short stature, Clinodactyly, Slender long b... |
OMIM:612921 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Short neck, Radial head subluxat... |
OMIM:615777 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Growth delay, Delayed cranial suture closure, Postnatal growth retardation... |
ORPHA:93324 |
| Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... |
OMIM:620076 |
| Chromosome 16Q22 Deletion Syndrome |
|
Narrow chest, Broad hallux, Postnatal growth retardation, Wormian bones, Short neck, Hip dysplasi... |
OMIM:614541 |
| 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 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... |
ORPHA:1120 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi... |
OMIM:312150 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, He... |
OMIM:235200 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Cat-Eye Syndrome |
|
Short stature, Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... |
OMIM:603909 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Hip dislocation, Abnormal clavicle morphology,... |
ORPHA:958 |
| Mirage Syndrome |
|
Microphallus, Radial club hand, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Le... |
OMIM:617053 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Abnormal hip bone morp... |
ORPHA:3068 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Proportionate short statur... |
OMIM:609654 |
| Holzgreve Syndrome |
|
Joint stiffness, Intrauterine growth retardation, Abnormal morphology of ulna, Hand polydactyly, ... |
ORPHA:2167 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Abnormal epiphysis morphology, Intrauterine growth retardation, Brachydacty... |
ORPHA:2643 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Genu valgum, Decreased skull ossification, Abnormal metacarpal morphology, ... |
ORPHA:1452 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vertebral hypero... |
ORPHA:89936 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies... |
OMIM:608940 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi... |
OMIM:253290 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ... |
ORPHA:85167 |
| Cornelia De Lange Syndrome 6 |
|
Pectus carinatum, Short 1st metacarpal, Intrauterine growth retardation, Down-sloping shoulders, ... |
OMIM:620568 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... |
ORPHA:1145 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Short neck, Disproportionate shor... |
ORPHA:583 |
| Gm1-Gangliosidosis, Type I |
|
Severe short stature, Joint stiffness, Intrauterine growth retardation, Death in infancy, Thicken... |
OMIM:230500 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri... |
OMIM:271665 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral ... |
ORPHA:3258 |
| Wolf-Hirschhorn Syndrome |
|
Radioulnar synostosis, Short hallux, Hip dislocation, Preaxial hand polydactyly, Severe postnatal... |
OMIM:194190 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, In... |
OMIM:616897 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Disproportionat... |
OMIM:241500 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Disproportionate short stature, Abnormal scap... |
ORPHA:93317 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Zttk Syndrome |
|
Small hand, Growth delay, Cervical ribs, Intrauterine growth retardation, Joint hypermobility, Ri... |
OMIM:617140 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the... |
ORPHA:1834 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Intrauterine growth retardation, Joint hypermobility, ... |
ORPHA:2772 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Short first metatarsal, Postnatal growth retardation, Epiphyseal stippling,... |
OMIM:619135 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Joint hypermo... |
OMIM:602196 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Growth delay, Bulging of the costoch... |
OMIM:600081 |
| Hypophosphatasia |
|
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Short stature, Craniosynostosis,... |
ORPHA:436 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Disproportionate short stature, Limitation of joint mobility, Radial bowing, Flare... |
OMIM:211350 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
| Campomelia, Cumming Type |
|
Clubbing of toes, Abnormal thorax morphology, Death in infancy, Bowing of the long bones, Brachyd... |
ORPHA:1318 |
| Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Carpal synostosis, Fusion of middle ear ossicles, Herniation of interverte... |
OMIM:157800 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon... |
OMIM:252600 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... |
OMIM:250220 |
| Robinow Syndrome |
|
Short distal phalanx of finger, Kyphoscoliosis, Missing ribs, Rib fusion, Bifid distal phalanx of... |
ORPHA:97360 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph... |
ORPHA:169160 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria |
OMIM:252920 |
| 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 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Abnormal bone ossif... |
ORPHA:175 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... |
OMIM:620210 |
| Mucopolysaccharidosis, Type Iiic |
|
Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic... |
OMIM:252930 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Slender long bone, Intrauterine growth retardation, Decreased skull ossifi... |
OMIM:244460 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... |
OMIM:619752 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Disproportionate short-trunk short stature,... |
OMIM:300106 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal rib morphology, E... |
ORPHA:2769 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Cartilage-Hair Hypoplasia |
|
Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid proce... |
OMIM:250250 |
| Opsismodysplasia |
|
Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cupping, Flat ac... |
OMIM:258480 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... |
ORPHA:2970 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Intrauterine growth retardation, Brachydactyly, Split hand, Abnormal rib morph... |
ORPHA:2145 |
| Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Osteomyelitis, Broad ribs, Joint swelling, Flaring of rib cage, Osteolys... |
OMIM:612852 |
| Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, Cuboi... |
ORPHA:1517 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:616100 |
| Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... |
ORPHA:2911 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ... |
ORPHA:3003 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, G... |
OMIM:253220 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
| Gracile Bone Dysplasia |
|
Micropenis, Asplenia, Hypoplastic spleen, Decreased skull ossification |
OMIM:602361 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, R... |
OMIM:307800 |
| Mosaic Trisomy 8 |
|
Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ... |
ORPHA:96061 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
| Hurler Syndrome |
|
Abnormal vertebral morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Abnor... |
ORPHA:93473 |
| Fibrous Dysplasia Of Bone |
|
Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal morphology of the rad... |
ORPHA:249 |
| Radio-Renal Syndrome |
|
Severe short stature, Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius... |
ORPHA:3015 |
| Renpenning Syndrome |
|
Severe short stature, Growth delay, Joint stiffness, Abnormal thumb morphology, Sprengel anomaly,... |
ORPHA:3242 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... |
ORPHA:572 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Growth delay, Bulging of the costoch... |
OMIM:241530 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Patellar dislocation, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular apla... |
ORPHA:3320 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Intrauterine growth retard... |
ORPHA:52 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan... |
OMIM:186500 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| 1P36 Deletion Syndrome |
|
Spinal canal stenosis, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, ... |
ORPHA:1606 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proximal femoral metaphysea... |
OMIM:260400 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:308230 |
| Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Intrauterine growth retardati... |
ORPHA:3378 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae, Pectus excavatum |
OMIM:619122 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Osteopenia, Joint contracture of the hand, Pectus carinatum, Genu recurvatum, Genu val... |
OMIM:182212 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... |
OMIM:620603 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplasti... |
OMIM:601559 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di... |
OMIM:253200 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ... |
ORPHA:465508 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... |
OMIM:200980 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Growt... |
OMIM:264700 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... |
OMIM:617895 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Short 5th finger, Growth delay, Camptodactyly of finger, 11 pairs of ribs, Rib fusion, Delayed cl... |
OMIM:607872 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Neonatal death, Fi... |
OMIM:617925 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Slender long bone, Cervical ribs, Lumbar hyperlordosis, Intrauterine growth retarda... |
ORPHA:500150 |
| Sclerosteosis 1 |
|
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Facial palsy second... |
OMIM:269500 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... |
OMIM:612782 |
| Campomelic Dysplasia |
|
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Hip contracture, Bowing of the long bones, Short neck, Sprengel a... |
ORPHA:800 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Kyphoscoliosis... |
OMIM:109400 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ... |
ORPHA:95699 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Severe short stature, Ulnar deviation of finger, Arthrogryposis multiplex congenita, Finger synda... |
ORPHA:2215 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Slender long bone, Decreased calvarial ossification, Brachydactyly, Short stature, Cra... |
OMIM:618265 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Decreased skull ossification |
OMIM:601163 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Occipital Horn Syndrome |
|
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Growth delay, Persistent open ant... |
OMIM:304150 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral bowing, Intrauterine growth re... |
OMIM:617022 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Intrauterine grow... |
ORPHA:887 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... |
OMIM:600002 |
| Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Xylt1-Cdg |
|
Broad thumb, Growth delay, Clinodactyly, Flared metaphysis, Joint dislocation, Broad ribs, Joint ... |
ORPHA:370930 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... |
OMIM:304120 |
| Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull o... |
ORPHA:666 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Growth delay, Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elb... |
OMIM:614008 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
| Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Prea... |
ORPHA:90652 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Popliteal pterygium, Finger syndactyly, Joint stiffness, Split hand, Abnormal rib... |
ORPHA:1300 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Long second metaca... |
OMIM:119600 |
| Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral b... |
ORPHA:83 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Abnormal rib morphology, Abnormally ossified vertebrae, Aplasia/Hypoplasia involvin... |
ORPHA:3301 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Postnatal growth retardation, Dysplasia of the femoral head, Arachnodac... |
ORPHA:536467 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Lumbar hemivertebrae, Osteopenia, Thin ribs, Thin metatarsal cortices, Thin metacarpal cortices, ... |
ORPHA:2463 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Joint stiff... |
OMIM:277600 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Intrauterine growth retardat... |
ORPHA:79255 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... |
OMIM:612447 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Ar... |
OMIM:600920 |
| Aspergillosis |
|
Osteomyelitis, Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib m... |
ORPHA:1163 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... |
OMIM:276820 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Kyphoscoliosis, Long fingers, Long clavicles, Flexion contracture,... |
OMIM:608149 |
| Myhre Syndrome |
|
Platyspondyly, Craniofacial hyperostosis, Severe short stature, Abnormal epiphysis morphology, Jo... |
ORPHA:2588 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o... |
OMIM:305400 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Osteoma... |
ORPHA:289157 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoracic hypoplasia, Elb... |
OMIM:620369 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Disproportion... |
OMIM:225500 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... |
OMIM:208500 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:102700 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... |
OMIM:263520 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Intrauterine gro... |
OMIM:269860 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Postnatal growth retardation, Overlapping toe, Intrauterine growth retardati... |
ORPHA:254528 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Short neck, Aplas... |
OMIM:609945 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Kagami-Ogata Syndrome |
|
Limitation of joint mobility, Thoracic hypoplasia, Postnatal growth retardation, Bell-shaped thor... |
ORPHA:254519 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyper... |
OMIM:151050 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Broad femoral neck, Thickened cortex of long bones, Short neck, Abnormal ... |
ORPHA:488434 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal s... |
OMIM:252940 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... |
OMIM:117650 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Postnatal growth retardation, R... |
OMIM:263750 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Posterior rib fusion, Butterfly vertebrae, Neonatal death |
OMIM:265380 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture, Short stature, Mild short stature |
OMIM:614833 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... |
OMIM:613179 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... |
ORPHA:90362 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Short distal phalanx of finger, Slender long bone, Cervical ribs, Delayed cranial sutu... |
OMIM:601812 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
| Ulbright-Hodes Syndrome |
|
Thin ribs, Abnormal forearm bone morphology, Postnatal growth retardation, Fibular aplasia, Humer... |
ORPHA:3404 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad femoral neck, Broad ribs, Sclerosis of skull base, Increased intervertebral ... |
OMIM:619727 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
