| Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Super... |
OMIM:609813 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae, Disprop... |
OMIM:608681 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Short stature, Block vertebrae, Death in infancy, Vertebral segmenta... |
OMIM:277300 |
| Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Abnormality of the elbow, Clinodactyly of the 5th finger, Radio... |
ORPHA:3268 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... |
OMIM:118610 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a... |
OMIM:173800 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Coxa valga, Osteoporotic tarsals, Irregular capital femoral epiphys... |
OMIM:609052 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Narrow chest, Disproportionate ... |
ORPHA:1354 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Vertebral segmentation defect, Hip dys... |
ORPHA:1988 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Enlarged joints, Narrow greater sciatic notc... |
OMIM:156530 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Flat acetabular roof, Missing ribs, Limitation of joint mobil... |
ORPHA:1801 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... |
OMIM:615401 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... |
ORPHA:64755 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... |
ORPHA:2635 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Short stature, Vertebral segm... |
ORPHA:2311 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Short stature, Block vertebrae, Vertebral seg... |
OMIM:613686 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... |
OMIM:618728 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Short stature, Abnormal vertebral morph... |
ORPHA:163665 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Severe short stature, Platys... |
ORPHA:168555 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Short stature, Vertebral segmentation defect, Abnormality of the humerus... |
ORPHA:1836 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... |
ORPHA:40 |
| Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Short lower limbs, Pect... |
OMIM:259440 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Mild postnatal ... |
ORPHA:168549 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... |
OMIM:609616 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Coxa vara, Short femoral neck, Thoracic hypoplasia, Rhizomelia, Short statu... |
OMIM:602271 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Lethal short-limbed short stature, Brachy... |
OMIM:187601 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia |
OMIM:615214 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... |
ORPHA:174 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short stature, Short ribs, Death in infancy, Narrow chest, Postaxial foot polyda... |
OMIM:617405 |
| Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... |
OMIM:608940 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Metaphyseal dysplasia... |
OMIM:271650 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Butterfly vertebrae, Camptodactyly, Short neck, Posterior rib gap, Postnatal growth retardation, ... |
OMIM:611209 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Hypoplastic iliac wing, Bell-shaped thorax, Irregular vertebral endplates, Irreg... |
OMIM:187760 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... |
OMIM:184400 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Shor... |
OMIM:618395 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Hypoplastic pubic bone, Thoracic hypoplasia, Short long bone, Flat acetabu... |
OMIM:608728 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Short stature, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, S... |
ORPHA:1394 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... |
OMIM:607271 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hypoplastic il... |
OMIM:313400 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Elbow dislocation, Hypoplastic cervical ... |
ORPHA:628 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplasti... |
OMIM:184250 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur... |
OMIM:259420 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:615592 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short stature, Abnormality of the elbow, Slender long bone, Abnormal cortica... |
ORPHA:1486 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:312863 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... |
ORPHA:2319 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck, Short stature |
ORPHA:2578 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Narrow chest, Short neck, Abnormal clavicle morphology, Proximal placement of thumb, ... |
ORPHA:93267 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature, Joint hypermobilit... |
OMIM:615220 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Elbow flexion contracture, Flared iliac wing, Irregular capital femoral epiphysis, Short neck, Ir... |
OMIM:184252 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Short neck,... |
OMIM:271520 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, Hemiver... |
ORPHA:2234 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Wide anterior fontanel, Short stature, Short ribs, N... |
ORPHA:2021 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... |
OMIM:300400 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... |
OMIM:102510 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Pectus excavatum, Short neck, A... |
ORPHA:2522 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... |
OMIM:228520 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... |
OMIM:151210 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Metaphyseal cupping, Pear-... |
OMIM:602111 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Anterior rib cupping, Advanced ossification ... |
OMIM:269250 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Short stature, Metaphy... |
OMIM:300863 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... |
ORPHA:239 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Pectus excavatum, Dislocated radial head, Short neck, Radial devi... |
OMIM:268310 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Abnormal sternum morp... |
ORPHA:2990 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... |
OMIM:223800 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Short stature, Diaphyseal thickening |
ORPHA:1513 |
| Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Ankle clonus, Rib fusion, Scoliosis |
OMIM:614688 |
| Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Recurrent fractures, Disproportionate short-li... |
OMIM:610915 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Genu valgum, Bell-shaped thorax, Short ribs, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Short stature, Toe syndactyly, Narrow chest, Abnormal ... |
ORPHA:474 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Vertebral arch anomaly, Broad femoral neck, Coxa valga, Short tubular bones of ... |
ORPHA:85184 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... |
OMIM:617241 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short thorax, Co... |
ORPHA:2484 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, Wide anterior fon... |
ORPHA:2347 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Tibial bowing,... |
OMIM:166210 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Bell-shaped thorax, Genu valgum, Short stature, Vertebral wedging, Kyphoscoliosis, Irregular femo... |
OMIM:255710 |
| Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Short stature, Thoracic kyphosis, Clinodactyly of the 5... |
OMIM:148050 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Short thorax, Coxa valga, Pectus carinatum, Kyphosis, Short stature, ... |
ORPHA:582 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Disproportionate short stature, Sev... |
ORPHA:93298 |
| Cog1-Cdg |
|
Coxa valga, Rhizomelia, Short long bone, Vertebral segmentation defect, Flat acetabular roof, But... |
ORPHA:263508 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor... |
ORPHA:392 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Short stature, Supernumerary ribs, Missing ribs, Butterfl... |
OMIM:206900 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Hand polydactyly, Abnormal vertebral morphology, Rib fusion, Scoliosis, Craniosynostosis |
ORPHA:261197 |
| Three M Syndrome 1 |
|
Hyperlordosis, Short thorax, Increased vertebral height, Short 5th finger, Short stature, Short r... |
OMIM:273750 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Thoracic hypoplasia, Severe platyspondyly, Hypoplastic ilia, Short ribs... |
OMIM:187600 |
| Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Angulated humerus, Short long bone, Rhizomelia, Multiple rib fractures, Shor... |
OMIM:616229 |
| Grant Syndrome |
|
Joint dislocation, Short stature, Narrow chest, Abnormal cortical bone morphology, Abnormality of... |
ORPHA:2097 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Rhizomelia, S... |
ORPHA:163966 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Bifid ribs, Vertebral fusion, Hyperextensibility of the finger joints, Short statu... |
OMIM:213980 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... |
ORPHA:66637 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Short neck, Ovoid... |
OMIM:253000 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absence of lymph node... |
ORPHA:277 |
| 3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Short neck, Scapular winging, Abnormal metaphysis morphology, R... |
ORPHA:2616 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade... |
ORPHA:444463 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology |
ORPHA:1436 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Short stature, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal... |
OMIM:122860 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Recurrent fractures, Kyphosis, Short stature, Wormian bones, Scoliosis, Join... |
ORPHA:2050 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... |
OMIM:619510 |
| Osteogenesis Imperfecta, Type Xxi |
|
Bell-shaped thorax, Coxa valga, Recurrent fractures, Coxa vara, Joint hypermobility, Bowing of th... |
OMIM:619131 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Hypoplastic iliac wing, Short tubular bones of the hand, Short ribs, Short long ... |
OMIM:200610 |
| Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Femoral retroversion, Pectus excavatum, Multiple prenatal fractur... |
OMIM:610682 |
| Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Kyphosis, Short stature, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasi... |
ORPHA:3082 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Coxa valga, Broad ribs, Wide anterior fontanel, Short stature, Flared me... |
OMIM:269300 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Disproportionate short-... |
OMIM:200600 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Butterfly vertebrae, Radioulnar synostosis, Ulnar d... |
ORPHA:2876 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregularity, Shor... |
OMIM:250420 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Aplasia/hypoplasia of the femur,... |
OMIM:134780 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Short stature, Flared iliac wing, Flat capital femoral epip... |
OMIM:252605 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Sandal gap, Scoliosis, Brachydactyly, Abnormal rib morphology, Hemivertebrae, A... |
ORPHA:2180 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Pectus excavatum, Elbow dislocation, Short neck, Sacral ... |
ORPHA:1507 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Pallister-Hall Syndrome |
|
Mesoaxial foot polydactyly, Neonatal death, Short 4th metacarpal, Radial head subluxation, Short ... |
OMIM:146510 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Peg-like central promine... |
OMIM:300232 |
| Mosaic Trisomy 14 |
|
Abnormal rib morphology, Camptodactyly of finger, Short neck, Narrow chest |
ORPHA:1703 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S... |
OMIM:184253 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc... |
OMIM:301082 |
| Dysosteosclerosis |
|
Short diaphyses, Delayed closure of the anterior fontanelle, Sclerotic scapulae, Hypoplastic vert... |
OMIM:224300 |
| Achondrogenesis Type 1A |
|
Short thorax, Short foot, Recurrent fractures, Abnormal enchondral ossification, Multiple rib fra... |
ORPHA:93299 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Clinodactyly of the 5th finger, Joint hyperflexibility, Arachnodactyly, Abnormal ri... |
ORPHA:2759 |
| Aicardi Syndrome |
|
Bifid ribs, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, Missing ribs, Butterf... |
ORPHA:50 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Short stature, Missing ribs, Scoliosis, Proximal placement of thumb, Joi... |
ORPHA:1488 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Joint ... |
ORPHA:2475 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Short neck, Delayed epi... |
ORPHA:93352 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Delayed epiphyseal ossification, Verteb... |
OMIM:602557 |
| Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Kyphosis, Short stature, Coronal craniosynostosis, Pectus excavatum, Wormian... |
OMIM:616294 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
| Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Rib fusion, S... |
OMIM:304050 |
| Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Thoracic hypoplasia, Short femur, Fibular bowing, Genu valgum, Generalized join... |
OMIM:613848 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... |
OMIM:618108 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Broad clavicles, Hip dysplasia, Spatulate ribs, Scoliosis, Irregular ... |
OMIM:619698 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Lower limb undergrowth, Abnormal rib morphology, Abnormality of fibula morphology,... |
ORPHA:3035 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... |
ORPHA:457083 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Joint laxity, Joint hypermobil... |
OMIM:617952 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Ovoid ve... |
OMIM:618019 |
| Saul-Wilson Syndrome |
|
Irregular vertebral endplates, Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epi... |
OMIM:618150 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Intrauterine growth retardation, Abnormal pelvic gird... |
ORPHA:1506 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Short 5th finger, Abnormal bone ossification, Triangular shape... |
ORPHA:73230 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormal rib morphology, Abnormality of the vertebral column, Sprengel anomaly, Short stature |
OMIM:601076 |
| Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Short humerus, Aphalangy of the hands, Spina bifida oc... |
OMIM:218600 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Preaxial hand polydactyly, Kyphosis, Hypoplastic pubic rami, Abnormal thorax morph... |
ORPHA:280 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... |
OMIM:616005 |
| Three M Syndrome 2 |
|
Hyperlordosis, Short thorax, Short 5th finger, Short stature, Lumbar hyperlordosis, Slender long ... |
OMIM:612921 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Rhizo-meso-acromelic limb shor... |
OMIM:611717 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... |
ORPHA:93324 |
| Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Hip dislocation, Pect... |
OMIM:615777 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Constricted iliac wing, Ovoid vert... |
OMIM:253010 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Decreased circulating antibody level, Abnormally low T cell receptor excision circle level, Pancy... |
OMIM:619767 |
| Chromosome 16Q22 Deletion Syndrome |
|
Wide anterior fontanel, Hip dysplasia, Broad hallux, Wormian bones, Short neck, Growth delay, Nar... |
OMIM:614541 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Death in infancy, Vertebral segmentation defect, ... |
ORPHA:1120 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Impotence, Hepatocellular carcinoma, Azoospermia, Osteoporosis, Testicular atrophy, Di... |
OMIM:235200 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
| Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Finger syndactyly, Kyphosis, Hypoplasia of the radius, Butterfly vertebrae, Hip... |
ORPHA:958 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Short stature, Craniofacial hyperostosis, Clinodactyly of the 5th finger, Limitati... |
ORPHA:3068 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Short stature |
ORPHA:195 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Epiphyseal streaking, Delayed closure of the anterior font... |
OMIM:604922 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Clinodactyly of the 5th finger, Rib fusion |
ORPHA:544488 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Intr... |
ORPHA:2643 |
| Holzgreve Syndrome |
|
Abnormal metacarpal morphology, Hand polydactyly, Joint stiffness, Abnormal morphology of ulna, A... |
ORPHA:2167 |
| X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... |
OMIM:619636 |
| Cleidocranial Dysplasia |
|
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Genu va... |
ORPHA:1452 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Cervical ribs, Short neck, Abnormality of the odontoid process, Proportionate s... |
OMIM:609654 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Radial club hand, Shawl scrotum, Decreased testicular size, Microphallus, Adr... |
OMIM:617053 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, S... |
OMIM:616897 |
| Mucolipidosis Iii Alpha/Beta |
|
Short stature, Short ribs, Short long bone, Craniosynostosis, Irregular carpal bones, Carpal bone... |
OMIM:252600 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
| Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Epiphyseal dysplasia, Short neck, Ovoid vertebral bodies, Abnormal metaphy... |
ORPHA:583 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Severe short stature, S... |
OMIM:230500 |
| Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Short ribs, Elbow flexion contracture, Kyphoscoliosis,... |
ORPHA:1145 |
| Wolf-Hirschhorn Syndrome |
|
Hip dislocation, Metatarsus adductus, Short hallux, Abnormal sternal ossification, Pseudoepiphyse... |
OMIM:194190 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Ovoid vertebral bodies, Narrow greater sciatic notch, Metaphyseal irregu... |
ORPHA:85167 |
| Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Hypophosphatasia, Infantile |
|
Vertebral clefting, Increased susceptibility to fractures, Metaphyseal cupping, Short ribs, Death... |
OMIM:241500 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Death in infancy, Wide anterior fontanel, Shortenin... |
OMIM:619135 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Disproportionate short-limb short stature, Joint hyperflexibility, Decreased... |
ORPHA:2772 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Short metacarpal, Narrow chest, Disproportionat... |
ORPHA:93317 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Vertebral segmentation defect, Missing ribs, Abnormal pel... |
ORPHA:1834 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Joint hypermo... |
OMIM:602196 |
| Hypophosphatasia |
|
Recurrent fractures, Short stature, Narrow chest, Abnormal rib morphology, Abnormal metaphysis mo... |
ORPHA:436 |
| Zttk Syndrome |
|
Flexion contracture, Small hand, Kyphosis, Short stature, Cervical ribs, Joint hypermobility, Rib... |
OMIM:617140 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Pseudoepiphyses, Short stature, Fused cervical vertebrae, Carpal s... |
OMIM:157800 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:600081 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... |
ORPHA:276 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Thoracic hypoplasia, Short metacarpal, Radial bowing, Flat acetabular roof,... |
OMIM:211350 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
| Robinow Syndrome |
|
Bifid distal phalanx of the thumb, Radioulnar dislocation, Short stature, Missing ribs, Syndactyl... |
ORPHA:97360 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Scoliosis, Joint stiffness |
OMIM:252900 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
| Campomelia, Cumming Type |
|
Death in infancy, Abnormal thorax morphology, Clubbing of toes, Brachydactyly, Abnormal rib morph... |
ORPHA:1318 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... |
OMIM:617780 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... |
OMIM:240500 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... |
ORPHA:35078 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
| Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Aplasia/... |
ORPHA:2769 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Short foot, Calvarial ost... |
OMIM:244460 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Split hand, Brachydactyly, Abnormal rib morphology, Craniosynos... |
ORPHA:2145 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... |
OMIM:619752 |
| Opsismodysplasia |
|
Short phalanx of finger, Severe platyspondyly, Hypoplastic vertebral bodies, Short neck, Short pa... |
OMIM:258480 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ... |
OMIM:271640 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Absent pubertal growth spurt, Metaphyseal cupping, Coxa vara, Prominent st... |
OMIM:250250 |
| Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital hip dislocation, Scoliosis, Abnormal ... |
ORPHA:2970 |
| Cartilage-Hair Hypoplasia |
|
Abnormal distal phalanx morphology of finger, Short neck, Metaphyseal chondrodysplasia, Limited e... |
ORPHA:175 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Dense calvaria, Kyphoscoliosis, Beaking of vertebr... |
OMIM:252930 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Periostitis, Osteopenia, Joint swelling, Fla... |
OMIM:612852 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... |
OMIM:305620 |
| Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... |
ORPHA:2911 |
| Pyknoachondrogenesis |
|
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Short long bone, P... |
ORPHA:3003 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Polydactyly, Absent or minimally ossified vertebral bodies, Short tibia, Thoraci... |
ORPHA:1505 |
| Cantú Syndrome |
|
Coxa valga, Finger syndactyly, Cuboid-shaped vertebral bodies, Short hallux, Short neck, Ovoid ve... |
ORPHA:1517 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Cone-shaped epiphysis, Thoracic hypoplasia, Short stature, Short ribs, Short lon... |
OMIM:613091 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Short stature, Narrow chest, Vertebral segmentation de... |
ORPHA:96061 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteolysis, Abnormal rib morphology, Fibrous dysplasia of the bones, Osteomalac... |
ORPHA:249 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Micropenis, Decreased skull ossification |
OMIM:602361 |
| Hurler Syndrome |
|
Camptodactyly of finger, Abnormality of the elbow, Short stature, Death in infancy, Narrow pelvis... |
ORPHA:93473 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Radio-Renal Syndrome |
|
Abnormality of the elbow, Hypoplasia of the radius, Severe short stature, Short neck, Brachydacty... |
ORPHA:3015 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Renpenning Syndrome |
|
Clinodactyly of the 5th finger, Pectus excavatum, Abnormal thumb morphology, Severe short stature... |
ORPHA:3242 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:241530 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... |
ORPHA:572 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Abs... |
OMIM:224690 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f... |
OMIM:186500 |
| Alagille Syndrome |
|
Butterfly vertebral arch, Vertebral segmentation defect, Clinodactyly of the 5th finger, Hypoplas... |
ORPHA:52 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
| Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Anterior rib cupping, Enlargement of the costochondr... |
OMIM:260400 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lumbar vertebrae, Genu valgum, Flexion contracture, Kyphosis, Short stature, ... |
OMIM:253220 |
| Trisomy 13 |
|
Kyphosis, Narrow chest, Abnormal pelvic girdle bone morphology, Postaxial hand polydactyly, Scoli... |
ORPHA:3378 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu valgum, Pectus carinatum, Wide anterior fontanel, Joint contracture of the hand, Supernumera... |
OMIM:182212 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Bifid ribs, Camptodactyly of finger, Delayed cranial suture closure, Kyphosis, ... |
ORPHA:1606 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Decreased circulat... |
OMIM:308230 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Erectile dy... |
ORPHA:465508 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hypoplastic acetabulae, Flared iliac wing, Anterior wedging of L2, Ovoid ver... |
OMIM:253200 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Pectus excavatum, Joint hypermobility, Six lumbar vertebrae, Scapular winging |
OMIM:619122 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:264700 |
| Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Foot polydactyly, Elbow flexion contracture, Missin... |
OMIM:200980 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Enlargement of the costochondral junctio... |
ORPHA:289157 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Bifid ribs, Delayed closure of the anterior fontanelle... |
OMIM:607872 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Sho... |
OMIM:617925 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Syn... |
OMIM:617895 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Absent thumb, Slender long bone, Intrauterine growth retardation, Meto... |
ORPHA:500150 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Decreased skull ossification |
OMIM:601163 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, 2-3 finger syndactyly, Broad clavicles, Sclerotic... |
OMIM:269500 |
| Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Coxa valga, Increased bone mineral density, Pectus ... |
ORPHA:800 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Hip dislocation, Tracheomalacia, Met... |
OMIM:114290 |
| Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Polydactyly, Vertebral fusion, Abnormal sternum morphology, Short 4th metacarpal, Sho... |
OMIM:109400 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Slender long bone, Decreased calvarial ossification, Brachydactyly, Craniosynostos... |
OMIM:618265 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Tapered finger, Finger syndactyly, Kyphosis, Ulnar deviation of finger, ... |
ORPHA:2215 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camp... |
ORPHA:95699 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Occipital Horn Syndrome |
|
Genu valgum, Coxa valga, Kyphosis, Capitate-hamate fusion, Broad clavicles, Narrow chest, Short h... |
OMIM:304150 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Erythroid hypoplasia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
| Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Vertebral segmentation defect, Abnormal sacrum morp... |
ORPHA:887 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Short long bone, Femoral bowing, Adducted thumb, Short neck, Overlapping fingers, Nar... |
OMIM:617022 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Coxa valga, Thoracic hypoplasia, Epiphyseal stippling, Camptoda... |
ORPHA:96334 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib ... |
ORPHA:666 |
| Xylt1-Cdg |
|
Joint dislocation, Coxa valga, Short femoral neck, Short stature, Short long bone, Clinodactyly, ... |
ORPHA:370930 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping toe, Postaxial hand polydactyl... |
ORPHA:672 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Toe syndactyly, Elbow contracture, Pectus excavatum, ... |
OMIM:304120 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Narrow chest, Increased bone mineral density, Flared iliac wing, Synosto... |
ORPHA:90652 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Popliteal pterygium, Split hand, Scoliosis, Abnormal rib morph... |
ORPHA:1300 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Narrow chest, Elbow... |
ORPHA:83 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ... |
OMIM:600920 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, ... |
ORPHA:3301 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
| Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Short stature, Long hallux, Narrow pelvis bone, Flat acetabu... |
OMIM:600002 |
| Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Cervical... |
OMIM:119600 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short stature, Supernumerary ribs, Short femur, Hypoplasia of the ulna... |
OMIM:612447 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Broad phalanges of the hand, Short stature, Spinal canal stenosis, Broad metata... |
OMIM:277600 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal bone ossification, Thin metatarsal cortices, Slender long bone, Joint hypermobility, Pec... |
ORPHA:2463 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
| Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Flexion contracture, Coxa valga, Kyphoscoliosis, Long clavicles, Long fingers... |
OMIM:608149 |
| Nestor-Guillermo Progeria Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Limited elbow movement, Short st... |
OMIM:614008 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Hypoplasia of the odontoid process, Bilateral cryptorchidism, Decreased serum test... |
OMIM:305400 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Hypoplastic iliac wing, Genu valgum, Capitate-hamate fusion, Short ribs, Short l... |
OMIM:225500 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short... |
OMIM:208500 |
| Myhre Syndrome |
|
Large iliac wing, Craniofacial hyperostosis, Intrauterine growth retardation, Joint stiffness, Br... |
ORPHA:2588 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia |
OMIM:618624 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
| Aspergillosis |
|
Abnormal rib morphology, Abnormality of the vertebral column, Osteomyelitis, Abnormal long bone m... |
ORPHA:1163 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs,... |
OMIM:263520 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Short toe, Neonatal death, Short thorax, Short foot, Short ribs, Bowing of the a... |
OMIM:269860 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Mild short stature, Flexion contracture, Short stature, Thin ribs |
OMIM:614833 |
| Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Posterior rib fusion, Neonatal death, Butterfly vertebrae |
OMIM:265380 |
| Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Bell-shaped thorax, Coxa valga, Thoracic hypoplasia, Limitation of join... |
ORPHA:254519 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad femoral neck, Small hand, Spina bifida occulta, Thickened cortex of long bones, Short neck,... |
ORPHA:488434 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Short stature, Hip dysplasia, Elbow flexion contra... |
OMIM:252940 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Pr... |
