Coxa Vara |
|
Coxa vara |
OMIM:122750 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Upington Disease |
|
Flattened femoral head, Multiple enchondromatosis, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short toe, Abnormal long bone morphology, Growth delay, Abnormal pelvic girdle bone morphology, S... |
OMIM:259270 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali... |
ORPHA:2501 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Aredyld Syndrome |
|
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology... |
ORPHA:1133 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... |
OMIM:618363 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... |
OMIM:184255 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of... |
OMIM:250460 |
Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Flared metaphysis, Decreased skull ossification, Slender long bone, Hypo... |
OMIM:602361 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ... |
OMIM:609325 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... |
OMIM:300400 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Thrombocytopenia, Radial ... |
OMIM:617053 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Failure to thrive sec... |
OMIM:608971 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... |
ORPHA:100024 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leukopenia, Co... |
ORPHA:1328 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly |
OMIM:616622 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro... |
OMIM:609052 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Ck Syndrome |
|
Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Abnormal digit morphology, High palate, S... |
OMIM:300831 |
Sandhoff Disease |
|
Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly |
ORPHA:796 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Cachexia, Congenital hypoplastic anemia, Splenomega... |
ORPHA:77297 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal form of the vertebra... |
ORPHA:93941 |
Mcdonough Syndrome |
|
Mandibular prognathia, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism, Dental malocc... |
ORPHA:2471 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Gingival overgrowt... |
OMIM:269920 |
Pycnodysostosis |
|
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... |
ORPHA:763 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... |
ORPHA:93352 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc... |
ORPHA:824 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Hypoplastic spleen, Rocker bottom foot, Adducted thumb |
ORPHA:89844 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Osteoporosis, Abnormality of the live... |
ORPHA:2169 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Squamous Cell Carcinoma Of The Esophagus |
|
Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99977 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Lethargy, Failure to thrive, Pancreatitis, Throm... |
ORPHA:79312 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... |
OMIM:166740 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal ossification, Ge... |
OMIM:602557 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Cryptorchidism, Abnormal fibula morphology, Coxa vara, ... |
ORPHA:1988 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Hyperlordosis, Abnormal form of the vertebral bodies, Cleft palate, Re... |
ORPHA:577 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Short stature, Protrusio aceta... |
ORPHA:99642 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Pancytopenia, Myelofibrosis, Splenomegaly, Acute myelomono... |
ORPHA:86843 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Femur fracture, Increased bo... |
OMIM:259700 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Hypogeusia, Furrowed tongue, Anemia |
ORPHA:2930 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insu... |
ORPHA:75233 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Avascular necrosis of t... |
OMIM:132400 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Short neck, Increased intervertebral space, Micrognathia, Lumbar hyperlordosis... |
OMIM:256050 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Hypoplastic il... |
OMIM:613330 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Talipes, Ulnar deviation of finger, Abnormal hip bon... |
ORPHA:1146 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopen... |
ORPHA:277 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ... |
ORPHA:2522 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Masa Syndrome |
|
Hyperlordosis, Kyphosis, Hydrocephalus, Ventriculomegaly, Adducted thumb |
OMIM:303350 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Short metacarpal, Decreased ... |
OMIM:216550 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... |
OMIM:609223 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Hepatomegaly, Bowing of the long bones, Craniofacial hyperostosis, Short n... |
ORPHA:61 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Amelogene... |
OMIM:612782 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... |
ORPHA:93333 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE leve... |
ORPHA:98813 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi... |
ORPHA:2370 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Kyphoscoliosis, Splenomegaly, Macroglos... |
OMIM:616354 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis |
ORPHA:408 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Flynn-Aird Syndrome |
|
Cachexia, Abnormality of the thyroid gland, Kyphosis, Carious teeth, Bone cyst, Primary adrenal i... |
ORPHA:2047 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... |
OMIM:617396 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Thin upper lip vermilion, Failure to thrive in infancy, Cachexia, Ta... |
OMIM:616801 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni... |
OMIM:231095 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Kyphoscoliosis, Osteoporosis, Diaphyse... |
OMIM:614727 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Cirrhosis, Lethargy |
OMIM:602390 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Abn... |
ORPHA:861 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Lethargy, Anemia |
ORPHA:28 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ventriculomegaly, Failure to thrive in infancy, Jaundice, Hydrocephalus, Lymphadeno... |
ORPHA:858 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Short neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short ... |
OMIM:617022 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Lethargy, Hypoglycorrhachia |
ORPHA:71277 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymp... |
OMIM:209950 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Adenocarcinoma Of The Esophagus |
|
Obesity, Clinodactyly of the 5th toe, Lymphadenopathy |
ORPHA:99976 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Gingival o... |
ORPHA:354 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... |
OMIM:615559 |
Familial Anetoderma |
|
Irregular dentition, Abnormal tibia morphology, Lumbar hyperlordosis, High, narrow palate |
ORPHA:228277 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas... |
OMIM:607944 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al... |
OMIM:619824 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Failure to thrive, Lethargy, Hepatomegaly |
OMIM:613561 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in ... |
OMIM:613385 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Everted lower lip vermilion, Decreased body weight, Abnormality of the h... |
ORPHA:1672 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Proteus Syndrome |
|
Thin bony cortex, Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Spinal canal stenosis, Calva... |
OMIM:176920 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... |
ORPHA:397596 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Obesity, Scoliosis |
OMIM:616756 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, ... |
ORPHA:353298 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Hype... |
OMIM:615761 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Neoplasm ... |
ORPHA:543 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Metatarsus adductus, Cryptorchidism,... |
OMIM:214110 |
Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Hydrocephalus, Failure to thrive |
ORPHA:26 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ... |
ORPHA:93315 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Cachexia, Hyperlordosis |
ORPHA:157973 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hepatomegaly, Hydrocephalus, Small hand, Scoliosis |
OMIM:300884 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... |
OMIM:610333 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Micrognathia, Abnormal foot morphology, Osteoporosis,... |
ORPHA:94068 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies... |
OMIM:242900 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Depression, Slender build, Hyperlordosis |
ORPHA:352470 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... |
OMIM:600081 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Recurrent si... |
OMIM:620282 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia,... |
OMIM:612541 |
Alexander Disease Type I |
|
Cachexia, Hydrocephalus, Failure to thrive, Scoliosis |
ORPHA:363717 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Abnormal primary molar morphology, De... |
ORPHA:1830 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Ck Syndrome |
|
Long toe, Microretrognathia, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Long fingers,... |
ORPHA:251383 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Short metacarpal, Hepatomegaly, Eosinophilia, Thin up... |
OMIM:616651 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis, Narrow pelvis bone |
OMIM:602484 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... |
ORPHA:2310 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal distal phalanx morphology of finger, Hyperlordosis, Micro... |
ORPHA:1387 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, R... |
OMIM:150550 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Hepatom... |
OMIM:226980 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Micrognathia, High p... |
OMIM:600462 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... |
OMIM:300554 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Abnormality of the dentition, Carious teeth, Mandibular osteomyeli... |
ORPHA:53 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4... |
OMIM:614450 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Spinal canal stenosis, Abnorma... |
ORPHA:429 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, Increased intervertebral space, T lymphocytopenia, Narrow greater sciatic notch, Ab... |
ORPHA:508533 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal zygomati... |
ORPHA:2511 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma... |
OMIM:201000 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Aplasia of... |
OMIM:102700 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... |
ORPHA:63446 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Bipolar affective disorder, Tapered finger, Kyphosis, Obesity, Depression, Oligodontia, Everted l... |
ORPHA:276630 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Micrognathia, Spinal rigidity, High palate, Scoliosis, Narrow mouth |
OMIM:618524 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Hyperlordosis, Pierre-Robin sequence, Small hand, Cleft palate, Thi... |
OMIM:619980 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hydrocephalus, Depression, Hyp... |
ORPHA:3452 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Osteoporosis, Microdontia of primary ... |
OMIM:234250 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Cryptorchidism, Anemia, Hyperlordosis |
ORPHA:1192 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Renpenning Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Macrodontia, Cachexia, Abnormal thumb morphology, High,... |
ORPHA:3242 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Abnormal morp... |
ORPHA:2639 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, I... |
OMIM:616817 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Feingold Syndrome 2 |
|
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... |
OMIM:614326 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... |
ORPHA:507 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia |
OMIM:243500 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Short neck, Bowing of the legs, Micrognathia, Meta... |
OMIM:255800 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Hypogonadotropic... |
ORPHA:465508 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... |
ORPHA:298 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Weight loss, Increased... |
ORPHA:100083 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
High palate, Slender build, Scoliosis, Hyperlordosis |
OMIM:620389 |
Pseudodiastrophic Dysplasia |
|
Smooth philtrum, Lumbar hyperlordosis, Phalangeal dislocation, Short neck, Micrognathia, Hypoplas... |
OMIM:264180 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... |
OMIM:616897 |
Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:97244 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Lethargy, Failure to thrive, Megaloblastic anemia |
OMIM:236270 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Hip dysplasia, Scoliosis |
OMIM:615290 |
Three M Syndrome 1 |
|
Mandibular prognathia, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral ... |
OMIM:273750 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hip dysplasia, Hyperlordosis |
ORPHA:363454 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Delayed puberty, Anemia, Long philtrum |
ORPHA:2598 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Obesity, Cone-shaped epiph... |
OMIM:615630 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Abnormal oral cavity morphology |
ORPHA:42642 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Short neck, Down-sloping shoulders... |
ORPHA:85293 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis |
OMIM:617404 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism, Hyperinsuline... |
ORPHA:3085 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia |
OMIM:619302 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis |
OMIM:300718 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Bowing of the legs, Ulnar bowing, Flared m... |
OMIM:100800 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, High palate, Scoliosis,... |
OMIM:147060 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy... |
OMIM:618495 |
Cartilage-Hair Hypoplasia |
|
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, S... |
ORPHA:175 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Failure to thrive, Dec... |
OMIM:618048 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Osteolysis, Downturned corners of mouth, Slender... |
ORPHA:2774 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Osteoporosis, Anemia, Neutropenia, Lethargy, Failure to thrive, Pancr... |
OMIM:606054 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, High palate, Scoliosis, Retrognathia, Slender build |
OMIM:161800 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyp... |
OMIM:615222 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis,... |
OMIM:230000 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis,... |
ORPHA:582 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Odontochondrodysplasia 1 |
|
Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Osteoporosis, Flat a... |
OMIM:184260 |
Winchester Syndrome |
|
Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca... |
OMIM:277950 |
Caspase 8 Deficiency |
|
Splenomegaly, Failure to thrive, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:607271 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Short metatarsal, Obesity, Pseudohypopar... |
OMIM:612463 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Decreased response to growth hormo... |
OMIM:616007 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, High palate, Clinodactyly |
OMIM:610313 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Mild fetal ventriculomegaly, Neonatal death, Lethargy, Brachydactyly |
OMIM:610498 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Hydrocephalus, Abnormal vertebral morphology, Ventriculomegaly |
OMIM:618709 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy |
OMIM:618852 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
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Hip contracture, Thin upper lip vermilion, Tented upper lip vermilion, Arachnodactyly, Cachexia, ... |
ORPHA:371364 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... |
OMIM:618392 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati... |
OMIM:156530 |
Parastremmatic Dwarfism |
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Bowing of the long bones, Short neck, Kyphosis, Genu valgum, Scoliosis |
OMIM:168400 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Lethargy, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Hype... |
ORPHA:1798 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Paget Disease Of Bone 2, Early-Onset |
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Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, S... |
OMIM:602080 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Atelosteogenesis Type I |
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Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Mucopolysaccharidosis Type 6 |
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Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Thic... |
ORPHA:583 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis,... |
OMIM:612350 |
Pelger-Huet Anomaly |
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Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi... |
OMIM:169400 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
Tetrasomy 12P |
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Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Short neck, Abnormal soft palate m... |
ORPHA:884 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, High palate, Scoliosis |
OMIM:611225 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Myopathic Ehlers-Danlos Syndrome |
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Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Tapered finger, Kyphosis, Micrognath... |
ORPHA:536516 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Micrognathia, Cryptorchidism, Normochromic anemia, Neutropenia, Lethargy, Failure to thrive, Thro... |
OMIM:614857 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
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Orbital craniosynostosis, Hydrocephalus, Dandy-Walker malformation, Micrognathia |
ORPHA:1538 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Hepatomegaly, Lumbar hyperl... |
OMIM:253200 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thoracolumbar scoliosis, Hyper... |
OMIM:618019 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
Schwartz-Jampel Syndrome |
|
Short neck, Micrognathia, Coxa vara, High palate, Long philtrum, Pursed lips, Abnormally ossified... |
ORPHA:800 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Increased CSF lactate, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Thick ... |
OMIM:619451 |
Three M Syndrome 2 |
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Delayed eruption of teeth, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short ... |
OMIM:612921 |
Wilson Disease |
|
Back pain, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Increased body weight, Hepatit... |
ORPHA:905 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Hyperlordosis, 2-3 toe syndactyly, Retrognathia, Scoliosis, Clinodactyly, Failure to thrive |
OMIM:617352 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
Cerebrooculofacioskeletal Syndrome 1 |
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Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa va... |
OMIM:214150 |
Hypoglossia With Situs Inversus |
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Micrognathia, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mouth, Microglossia |
OMIM:612776 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Increased serum serotonin, Congenital bilateral hip dislocation |
ORPHA:85288 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal ... |
OMIM:190350 |
Nasu-Hakola Disease |
|
Hydrocephalus, Bone cyst, Reduced bone mineral density, Acute leukemia, Abnormal epiphysis morpho... |
ORPHA:2770 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... |
OMIM:250250 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Christianson Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Cachexia, Adducted thumb |
ORPHA:85278 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... |
OMIM:241530 |
Three M Syndrome 3 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Slender long bo... |
OMIM:614205 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Abnormal dental morphology, Cortical sclerosi... |
ORPHA:210110 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology |
ORPHA:353 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Lumbar hyperlordosis, Thoracol... |
ORPHA:3041 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Bone marrow hypocellu... |
OMIM:617244 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Aphthous ul... |
OMIM:301082 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Tapered finger, Micrognathia, Short neck, Thin vermilion border, Long philtrum |
ORPHA:1438 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... |
ORPHA:160 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Hyperlordosis, Micr... |
OMIM:618443 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia |
ORPHA:3004 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Weight loss, Hyper... |
ORPHA:324964 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormal pelvis bone morphology, Obesity |
ORPHA:2206 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... |
ORPHA:65759 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Downturned corners of mouth, Premature adrenarche, Lethargy, Hypothalamic luteinizing... |
ORPHA:398079 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Short stature, Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the... |
ORPHA:1837 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, K... |
OMIM:619797 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... |
ORPHA:169154 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Kyphosis, Premature lo... |
ORPHA:137834 |
Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Jaundice, Failure to thrive, Hydrocephalus |
OMIM:129850 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... |
ORPHA:95717 |
Classic Galactosemia |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal erythrocyte enzyme level, Cr... |
ORPHA:79239 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Sandal gap, Cachexia, Dental crowding, Precocious puberty, Cryptorc... |
ORPHA:813 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Bowing of the legs, Hip joint hypermobility, Kyphosis, Wide ... |
ORPHA:15 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... |
ORPHA:729 |
Ataxia-Telangiectasia |
|
Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, Acute lymphoblastic leukemia, T l... |
OMIM:208900 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Failure to thrive |
ORPHA:250994 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Hypothyroidism, Short... |
ORPHA:221008 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De... |
ORPHA:95716 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... |
OMIM:146000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, 2-3 toe syndactyly, Depression, Thoracic kyphosis, Short finger, Long philt... |
OMIM:619467 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age |
OMIM:617065 |
Sialidosis Type 2 |
|
Splenomegaly, Kyphosis, Osteoporosis, Hepatomegaly |
ORPHA:87876 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Short Stature, Brussels Type |
|
Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Typhoid |
|
Splenomegaly, Lethargy, Hepatomegaly |
ORPHA:99745 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Hyperlordosis, Cryptorchidism, Hip dislocation, Macroglossia, Scoliosis, Open mouth, Ventriculome... |
OMIM:613156 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Cachexia |
ORPHA:1144 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Overweight, Precoc... |
OMIM:616222 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Hyperlordosis, Thin lower lip vermilion, Abnormal T cell subset distribution, Clinoda... |
ORPHA:221139 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... |
OMIM:301900 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Microdontia, Hepatomegaly, Hypoplasia of the femoral head, Hypo... |
OMIM:607014 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... |
OMIM:618204 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Hyperinsulinemia, Osteopo... |
OMIM:613327 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, Micrognathia, High, nar... |
ORPHA:2780 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Short neck, Micrognathia, Cryptorchidism, Kyphosis, High palate, Camptodactyl... |
OMIM:618393 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Cryptorchidism, Hy... |
OMIM:607143 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Neutropenia, Lethargy, Failure to thrive, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Hyperlordosis, Coxa vara, Abnormal form o... |
ORPHA:2831 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Thick lower lip vermil... |
ORPHA:2058 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Lethargy |
OMIM:618224 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, ... |
ORPHA:77259 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... |
ORPHA:93307 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Hepatomegaly, Increased bone mineral density, Leukocy... |
OMIM:259720 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... |
ORPHA:93311 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Increased CSF valine concentration, Increased CSF isoleucine concentration, Increas... |
OMIM:246900 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Hypogeusia, Hypogonadism, Lethargy, Decreased serum testosterone conc... |
OMIM:201100 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Glut1 Deficiency Syndrome 1 |
|
Hypoglycorrhachia, Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph... |
ORPHA:1427 |
Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hyperlordosis, Abnormality of the dentition, Oligodontia, Thoracic kyphosi... |
ORPHA:557003 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:274270 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Recurrent ... |
OMIM:613101 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, A... |
ORPHA:2928 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph... |
ORPHA:221016 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp... |
ORPHA:2686 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip... |
OMIM:156550 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Autoimmune ... |
ORPHA:37042 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal... |
OMIM:277440 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Abnormal... |
OMIM:610967 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot... |
ORPHA:2616 |
Nemaline Myopathy 2 |
|
Spinal rigidity, Hyperlordosis, Cleft palate, High palate, Scoliosis, Narrow mouth, Slender build... |
OMIM:256030 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Thyroiditis... |
ORPHA:39041 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Apathy |
ORPHA:99966 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... |
ORPHA:313855 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
Felty Syndrome |
|
Hepatomegaly, Sinusitis, Splenomegaly, Osteolysis, Weight loss, Anemia, Lymphadenopathy, Bone mar... |
ORPHA:47612 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Wide mouth, Long philtru... |
OMIM:608776 |
Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei... |
ORPHA:141152 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth, Failure to thrive |
OMIM:620007 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... |
ORPHA:514 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Micrognathia, Gingival overgrowth, 2-3 toe syndactyly, Narrow palate, High palate, Thic... |
OMIM:618186 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Short toe, Choroid plexus calcification,... |
OMIM:103580 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Severe short stature, Abno... |
ORPHA:93316 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... |
OMIM:300009 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Axial Mesodermal Dysplasia Spectrum |
|
Short neck, Micrognathia, Abnormality of the spleen, Hydrocephalus, Gingival overgrowth, Abnormal... |
ORPHA:1834 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive, Anemia, Increased CSF lactate |
OMIM:615838 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy |
OMIM:611762 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Osteoglosphonic Dysplasia |
|
Failure to thrive in infancy, Craniosynostosis, Micrognathia, Cryptorchidism, Abnormal form of th... |
ORPHA:2645 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Postaxial polydactyly, Splenomegaly, Hydrocephalus,... |
OMIM:614576 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... |
OMIM:223800 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hydrocephalus, L... |
OMIM:612301 |
22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Hypoplasia of the thymus, Short philtrum, Hypothyroidism, Hypoparathyro... |
ORPHA:567 |
Jeune Syndrome |
|
Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly... |
ORPHA:474 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Clubbing, Clubbing of fingers, Glossitis, Anemia |
OMIM:175500 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Platyspondyly, Short philtrum, De... |
ORPHA:71267 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Depression |
OMIM:618093 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu var... |
OMIM:615777 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Short ribs, Disp... |
ORPHA:1803 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing... |
OMIM:619951 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, H... |
ORPHA:381 |
B4Galt1-Cdg |
|
Hepatomegaly, Thin upper lip vermilion, Small for gestational age, Splenomegaly, Hydrocephalus, L... |
ORPHA:79332 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice,... |
OMIM:612714 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Increased CSF lactate |
OMIM:613710 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, High palate, Scoliosis, Neutropenia, Lymphopen... |
OMIM:619752 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Smooth philtrum, Hepatomegaly, Dental crowding, Micrognathia, Persistence of primary teeth, Thick... |
OMIM:618342 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Cachexia, Micrognathia, Craniosynostosis, Cone-sha... |
ORPHA:808 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Micrognathia, Bowing of the l... |
OMIM:613849 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o... |
ORPHA:400 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Deep ... |
OMIM:619542 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Failure to thrive, Lethargy, Increased CSF lactate |
OMIM:618226 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E... |
ORPHA:199299 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Hip contracture, Lumbar hyperlordosis, Short neck, Hypoplastic ilia, Short... |
OMIM:607095 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pancytopenia, Ventriculomegaly, Cachexia, Abnormality of the spleen, Thrombocytope... |
ORPHA:2072 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, L... |
OMIM:620233 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Asplenia, Kyphosis, Cryptorchidism, Cleft lip, Cleft palate, Abdominal situs invers... |
OMIM:619123 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Scrub Typhus |
|
Splenomegaly, Lethargy, Lymphadenopathy |
ORPHA:83317 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis, Paget disease of bone |
OMIM:167320 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Congenital hepatic fibrosis, Osteoporosis, Abnormality of endocrine pancreas p... |
ORPHA:79230 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, High palate, Kyphoscoliosis |
OMIM:610687 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Small for gestational age, Megaloblastic an... |
OMIM:277380 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromelia, Microgn... |
OMIM:613848 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Hepatomegaly, Short neck, Abnormal thumb morphology, Abnormal femur morpho... |
ORPHA:1842 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Sacral dimple, Craniosynostosis, Micrognathia, Short neck, Hydrocephalus, Short philtrum, Abnorma... |
ORPHA:1516 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Dental malocclusion, ... |
OMIM:619719 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... |
ORPHA:77258 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Increased CSF lactate, Long philtrum, Lethargy, Ventriculomegaly |
OMIM:312170 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Syndactyly, Hydrocephalus, Polydactyly, Leukemia, Ventriculomegaly |
OMIM:602501 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Cachexia, Supernumerary nipple, Cr... |
ORPHA:217346 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ... |
OMIM:314580 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... |
OMIM:114300 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Osteolysis, Abnormal long bone morphology, Abnormality of the vertebral column, Ca... |
ORPHA:52430 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Increased body weight, Downturned corners of mouth, Lethargy, Hypothalamic luteinizin... |
ORPHA:398069 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Microcytic anemia, Short neck, Deep philtrum, Hepatosplenomegaly, Lymphade... |
OMIM:619750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Wide anterior fontanel, Failure to thrive in infancy, Lethargy, Hepatomegaly |
OMIM:619064 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Hip dysplasia, High palat... |
OMIM:611890 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Cachexia, Postaxial hand polydactyly, Long philtrum, Abnormal palate morphology |
ORPHA:1389 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony co... |
OMIM:619638 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy, Anemia, Hepatomegaly |
ORPHA:100025 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Ventriculomegaly, Monkey wrench femoral neck, Hyperlordosis, 2-3 toe syndactyl... |
OMIM:618870 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small for gestational age, Abnormal finger flexion c... |
ORPHA:2980 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive, Narrow palate, Increased CSF lactate |
OMIM:611523 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Depression, Slender build, Hyperlordosis |
OMIM:615156 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
ORPHA:276608 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Microsporidiosis |
|
Brain abscess, Sinusitis, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Perito... |
ORPHA:2552 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-o... |
ORPHA:324575 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... |
OMIM:615518 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Micrognathia, Metatarsu... |
OMIM:614866 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short neck, Elevated circulating thyroid-stimulating... |
OMIM:612462 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Sacral dimple, Toe syndactyly, Brachydactyly, Camptodactyly... |
ORPHA:1327 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Tapered finger, Hyperlordosis, Precocious puberty, Cleft lip, Hip dislocation, Obes... |
OMIM:301066 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Platyspon... |
ORPHA:166272 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Split hand, Hydrocep... |
OMIM:309900 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Broad philtrum, Scoliosis, L... |
OMIM:618577 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, ... |
ORPHA:2969 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Genu valgum, Flared iliac wi... |
OMIM:252605 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Rhabdoid Tumor |
|
Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocytopenia |
ORPHA:69077 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Cleft palate, Vertebral segmentation defec... |
ORPHA:1797 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Failure to thrive, Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:250620 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Abnormal pelvis bone morphology, Eosinophilia, Cholangitis, Portal ... |
ORPHA:284 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypo... |
OMIM:253220 |
Fried Syndrome |
|
Hydrocephalus, High palate, Short philtrum, Scoliosis |
ORPHA:85335 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia, Tongue fasciculations, Ventriculomegaly |
OMIM:619851 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... |
OMIM:608940 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Short thumb, Brachydactyly |
OMIM:165800 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Thick lower lip vermilion, Gingival overg... |
OMIM:618658 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis, Ventriculomegaly |
OMIM:606612 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Lethargy, Hepatic steatosis, Cachexia |
ORPHA:42 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Split hand, Thick lower lip v... |
ORPHA:579 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... |
ORPHA:84064 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa... |
OMIM:257200 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulin... |
ORPHA:276575 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Short neck, Micrognathia, K... |
ORPHA:3409 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Chromosomal breakage ... |
OMIM:609054 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Period... |
ORPHA:955 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Myasthenic Syndrome, Congenital, 16 |
|
High palate, Hyperlordosis |
OMIM:614198 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Classic Mycosis Fungoides |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly |
ORPHA:2584 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Lumbar hyperlordosis, High palate, Scoliosis, Failure to thrive |
OMIM:255310 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mel... |
ORPHA:276580 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Pierre-Robin sequen... |
OMIM:215150 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Trip... |
ORPHA:124 |
Dengue Fever |
|
Hepatomegaly, Leukopenia, Gingival bleeding, Lethargy, Thrombocytopenia |
ORPHA:99828 |
Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:391673 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Cryptorchidism, Multilobulated spleen, Neonatal death, Hypoplastic spleen |
OMIM:601186 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Micrognathia, Weight loss, Reduced bone mineral density, Narrow mouth, Type I diabetes ... |
ORPHA:1979 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebra... |
ORPHA:2180 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Decreased response to growth ... |
ORPHA:1896 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Cleft palate, Reduced number of intrahepatic bile ducts, Neutropenia, Stoma... |
ORPHA:79284 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinod... |
ORPHA:744 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism... |
ORPHA:710 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal sclerosis, Hypothy... |
ORPHA:2905 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive, Ventriculomegaly |
OMIM:618228 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Reduced bone mine... |
ORPHA:828 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Micrognathia, ... |
OMIM:602471 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... |
ORPHA:628 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Short neck, Hypoplasia of ... |
ORPHA:915 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropen... |
OMIM:275350 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Hurler Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Abnormality of the tonsils, Short neck, Splenomegaly, Hydr... |
ORPHA:93473 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Atypical or prolonged he... |
ORPHA:83471 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic st... |
ORPHA:275761 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Abno... |
ORPHA:1855 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermilion, Obesity, G... |
OMIM:300602 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Osteopenia, Sandal gap, Adrenal hypoplasia, Micrognathia, Hypoplasia of the thy... |
OMIM:613177 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo... |
OMIM:615966 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis, Failure to thrive |
OMIM:618234 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Short phi... |
ORPHA:2429 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Rickets, Trapezoid... |
OMIM:307800 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Gaba-Transaminase Deficiency |
|
Lethargy, Retrognathia |
OMIM:613163 |
Rett Syndrome |
|
Cachexia, Abnormality of the dentition, Kyphosis, Short foot, Scoliosis |
OMIM:312750 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemic hypoglycemia, Excessive insulin respons... |
ORPHA:276556 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis,... |
ORPHA:48431 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine growth retardation |
ORPHA:1506 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Lethargy, Kyphoscoliosis |
OMIM:617105 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca... |
OMIM:269300 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, High palate, Scoliosis |
OMIM:160500 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Idiopathic Intracranial Hypertension |
|
Back pain, Lethargy, Obesity, Depression |
ORPHA:238624 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Obesity, High palate, ... |
OMIM:619185 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, Hy... |
OMIM:230500 |
Central Diabetes Insipidus |
|
Depression, Weight loss, Lethargy, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
Cold Agglutinin Disease |
|
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Congenital finger flexion contractures, Hyperlordosis |
ORPHA:267 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis |
OMIM:300434 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, ... |
ORPHA:2789 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia |
OMIM:251110 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathi... |
OMIM:212720 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus, Cachexia |
ORPHA:97229 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis, Prolonged neonatal jaundice, Tapered finger |
OMIM:618512 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Abnormal tibia morphology, Split hand, Hydrocephalus, Anenceph... |
ORPHA:1335 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Ventriculomegaly, Tapered finger, Splenomegaly, Micronod... |
OMIM:301072 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Short neck, Micrognathia, Tibial bowing, High palate, Short philtrum... |
ORPHA:251028 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Thrombocytopenia, A... |
ORPHA:47 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short neck, High, narrow palate, Hydrocephalus, Obesity, Abnormal... |
ORPHA:2183 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ... |
ORPHA:97289 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Broad hallux, Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodies, Increased ... |
OMIM:272200 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morp... |
ORPHA:63442 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Generaliz... |
ORPHA:3260 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Small for gestational age, Selective tooth agenesis, Spina bifida, Hyperlordosis, Mi... |
OMIM:234100 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorchidism, Cryptorchi... |
OMIM:617796 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Abnormal pelvic girdle bone morpho... |
OMIM:123000 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing |
OMIM:615066 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Dandy-Walker mal... |
OMIM:264090 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis |
OMIM:619281 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Weight loss, Lymphadenopathy, ... |
ORPHA:520 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Hydrocephalus, Chole... |
ORPHA:398124 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va... |
OMIM:617425 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Increased circulating procalcitonin co... |
ORPHA:36238 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Open bite, Kyphosis, Cryptorchidism, Carious teeth, Reduced bone mineral density, V... |
ORPHA:2617 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Thick vermilion bor... |
ORPHA:505652 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Narrow mouth, Narrow pal... |
ORPHA:1323 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Arachnodactyly, Hyperlordosis, Micrognathia, Wide mouth, High palate, Short philtrum, Scoliosis, ... |
OMIM:300986 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis |
ORPHA:702 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro... |
ORPHA:2484 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... |
ORPHA:96263 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Coxa vara, Hypopla... |
OMIM:313400 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... |
ORPHA:192 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Reduced bo... |
ORPHA:1451 |
Satoyoshi Syndrome |
|
Tapered finger, Abnormality of the humerus, Hyperlordosis, Nephrogenic diabetes insipidus, Abnorm... |
ORPHA:3130 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Cryptorchidism, Hydroce... |
ORPHA:171839 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Selective tooth agenesis, Microcytic anemia, Micrognathia, T lymp... |
ORPHA:2959 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Hydrocephalus, Kyphoscoliosis |
OMIM:236660 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Goiter, Dela... |
ORPHA:90674 |
Pycnodysostosis |
|
Brachydactyly, Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal si... |
OMIM:265800 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty... |
ORPHA:2839 |
Ramon Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma... |
ORPHA:3019 |
Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, Broad hallux, High, narrow palate, Cryptorchidism... |
ORPHA:276432 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Proximal placem... |
ORPHA:94065 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Krabbe Disease |
|
Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Autoimmune thrombocytopenia |
OMIM:245200 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... |
ORPHA:193 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp... |
OMIM:235510 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Carious t... |
ORPHA:377 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Lympha... |
OMIM:615122 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ... |
OMIM:269860 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Chronic sinusitis, B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Triploidy |
|
Hepatomegaly, Finger syndactyly, Short neck, Micrognathia, Abnormality of the pancreas, Cryptorch... |
ORPHA:3376 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Recurrent sinusitis, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:50251 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... |
ORPHA:86822 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Weig... |
ORPHA:20 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, High palate, Scoliosis, Hyperlordosis |
OMIM:255200 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis |
ORPHA:206546 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Failure to thrive, Bilateral cryptorchidism, Carious teeth, Neutropenia, Eclabion, L... |
OMIM:616395 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Subperiosteal bone f... |
OMIM:618188 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Hyperlordosis, Small hand, Short foot, Wide mouth, Brachydactyly |
OMIM:617450 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Bowing of the legs |
ORPHA:156728 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Micrognathia, Hip dislocation, Genu valgum,... |
ORPHA:171436 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Finger swellin... |
OMIM:617591 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Recurrent sinusitis |
OMIM:240500 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Microg... |
ORPHA:235 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... |
ORPHA:96264 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Carious teeth, Cryptorchidism, Hydrocephalus, Deep philt... |
ORPHA:2701 |
Fraser Syndrome 2 |
|
Narrow mouth, Hypoplasia of the thymus, Cutaneous syndactyly, Short neck |
OMIM:617666 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ventriculomegaly, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, ... |
OMIM:304790 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Micrognathia, Kyphosis, Deep philtrum, Wide mouth, Short philtrum, Thi... |
OMIM:615834 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, ... |
ORPHA:508542 |
Pseudoaminopterin Syndrome |
|
Micrognathia, Asplenia, Orofacial cleft, High palate, Short philtrum, Patchy reduction of bone mi... |
ORPHA:221120 |
Desmosterolosis |
|
Increased bone mineral density, Micrognathia, Metatarsus adductus, Splenomegaly, Hydrocephalus, S... |
ORPHA:35107 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Short neck, Abnormality of the humerus, Kyphosis, Wide anterior fontanel, Preaxial... |
ORPHA:3098 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:2136 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Thrombocytopenia, Lateral ventricle dilatation, Lethargy, Ventriculomegaly |
OMIM:617397 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Craniosynostosis, Hyperlordosi... |
ORPHA:794 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Failure to thrive in infancy, Rocker bottom foot, Abnormality of the philt... |
OMIM:615547 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Chromosome 10Q26 Deletion Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Small for gestational... |
OMIM:609625 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Bone marrow h... |
ORPHA:101096 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Diastema, Open bite, Genu valgum, Platyspondyly, Posterior scalloping of vertebral... |
OMIM:619698 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Micrognathia, Kyphosis, Cryptorchidism, Short philtrum, Joint contract... |
ORPHA:352490 |
Bethlem Myopathy 2 |
|
Kyphosis, Hip dislocation, Scoliosis |
OMIM:616471 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Rocker bottom foot, Camptodactyly of finger, Short neck, Asplenia, Cryptorchidi... |
ORPHA:99776 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Stiff-Person Syndrome |
|
Diabetes mellitus, Lumbar hyperlordosis, Anemia, Depression |
OMIM:184850 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Lumbar hyperlordosis, Irregular iliac crest, Metaphyseal wi... |
OMIM:250420 |
Grant Syndrome |
|
Bowing of the long bones, Short stature, Joint hyperflexibility, Abnormal pelvic girdle bone morp... |
ORPHA:2097 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... |
ORPHA:93360 |
Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Short neck, Clubbing, Hypochromic microcytic anemia, He... |
ORPHA:96123 |
Myasthenic Syndrome, Congenital, 14 |
|
High palate, Scoliosis, Hyperlordosis |
OMIM:616228 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... |
ORPHA:90673 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosis, Hydrocepha... |
OMIM:619377 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Eosinophilia, Craniosynostosis, Abnormality of the dentiti... |
ORPHA:2314 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Kyphoscoliosis, Fluctuating splenome... |
OMIM:610377 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia |
OMIM:251100 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Absent frontal sinuses, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Sacral dimple, Congenital hip dislocation, Ventriculomegaly... |
ORPHA:96170 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinusitis |
OMIM:618969 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia |
OMIM:608184 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis |
ORPHA:217390 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:2394 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Premature loss of primary teet... |
ORPHA:667 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Abnormality of the ... |
ORPHA:85408 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Portal hypertension, Tapered finger,... |
OMIM:620005 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation |
OMIM:123155 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Failure to thrive, Lethargy, Hepatomegaly |
OMIM:238970 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morpholo... |
ORPHA:666 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Hyperlordosis, Short neck, Micrognathia, Narrow mouth... |
OMIM:615065 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F... |
OMIM:619644 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Camptodactyly of finger, Micrognathia, Splenomegaly, Kyphosis, Contracture of the d... |
OMIM:607015 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Delayed eruption of teeth, Crumpled long bones, Bowing of the long b... |
ORPHA:2050 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Smooth philtrum, Megaloblastic anemia, Hydrocephalus, Neutropenia, Lethargy, Failure to thrive, T... |
OMIM:277400 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Increased CSF lactate |
OMIM:618225 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Abnormality of the dentition, Kyphosis, Scoliosis, Abnormal testis morphology |
ORPHA:1548 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Sandal gap, Kyphosis, Cryptorchidism, Thick lower lip vermilion, Small han... |
OMIM:300354 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Decreased specific antibody response to polysaccharide vaccine, Lung absc... |
OMIM:241600 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Hydrocephalus, Punctate vertebral calcifications, Epiphyseal stippl... |
ORPHA:1914 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Peri... |
OMIM:612852 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss |
ORPHA:26790 |
Lead Poisoning |
|
Delayed eruption of teeth, Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin... |
ORPHA:330015 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Cockayne Syndrome |
|
Hepatomegaly, Diabetes mellitus, Abnormal dental morphology, Cachexia, Delayed eruption of primar... |
ORPHA:191 |
Idiopathic Bronchiectasis |
|
Clubbing, Cachexia |
ORPHA:60033 |
Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Congenital hip dislocation, Ventriculomegaly, Dental crowding, Delayed ... |
OMIM:609029 |
Momo Syndrome |
|
Delayed eruption of teeth, Large for gestational age, Short neck, Abnormality of the thyroid glan... |
ORPHA:2563 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Abdominal obesity, Lumbar hyperlordosis, Hepatic steatosis |
OMIM:615980 |
Sialidosis Type 1 |
|
Splenomegaly, Kyphosis, Thick lower lip vermilion, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:812 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Postnatal growth retardation, Decreased body weight, Clinodactyly of t... |
OMIM:608747 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, ... |
OMIM:210710 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Aqueducta... |
ORPHA:58 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty... |
OMIM:175700 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Hydrocephalus, Lumbar kyphosis, Hepatosplenom... |
ORPHA:505248 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Abnormal form of the vertebral bodies... |
ORPHA:949 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Hydrocephalus, High, narrow palate, Shoulder dislocation, Scoliosis, Ad... |
ORPHA:2181 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Kyphoscoliosis, Abnormal form of the vertebral bodie... |
ORPHA:263463 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Steel Syndrome |
|
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t... |
OMIM:615155 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Hy... |
ORPHA:3042 |
Dihydropyrimidinase Deficiency |
|
Lethargy, Short phalanx of finger |
OMIM:222748 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis |
ORPHA:163703 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Lumbar hyperlordosis, Radial bowing, Ovoid vertebral bodies, Broad metatarsal, ... |
OMIM:602875 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Decreased CSF homovanillic acid concentration |
ORPHA:101150 |
Xfe Progeroid Syndrome |
|
Cachexia, Scoliosis, Premature loss of teeth, Failure to thrive, Enamel hypoplasia, Ventriculomegaly |
OMIM:610965 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Hyperlordosis, Abnormal hip bone morpho... |
ORPHA:3068 |
Pyruvate Dehydrogenase Deficiency |
|
Osteolytic defects of the middle phalanx of the 4th toe, High palate, Long philtrum, Lethargy, Ve... |
ORPHA:765 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... |
ORPHA:819 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Portal hypertension, Congenital hepatic fibrosis... |
ORPHA:974 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima... |
ORPHA:227990 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis, Failure to thrive |
OMIM:618237 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Short neck, Deep philtrum, Non-midline c... |
ORPHA:647 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Lethargy, Failure to thrive, Decreased carnitine ... |
OMIM:212140 |
Distal Deletion 10Q |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Sandal gap, Craniosynostosis, Tapered finger, Mic... |
ORPHA:96148 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, High, narrow palate, Thick lower lip vermi... |
OMIM:162300 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, K... |
OMIM:130060 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut... |
ORPHA:227982 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Ventriculomegaly |
ORPHA:319199 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy, Macroglossia, Weight loss, Glossitis |
ORPHA:2221 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... |
OMIM:618761 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Open bite, Splenomegaly, Hydroce... |
OMIM:115150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroidism, Osteopor... |
OMIM:619487 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Small for gestational age, Refractory siderobla... |
OMIM:557000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, CSF pleocytosis, Lymphadenopathy, Anemia, Leukopenia, Hemop... |
OMIM:267700 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity, Hyperlordosis |
OMIM:162370 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sandal gap, Cryptorchidism, Thick lower lip vermilion, Cleft palate, W... |
OMIM:614607 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Hyperlordosis, Long fingers, High palate, Narrow mouth, Retrognathia, Bifid uvula |
ORPHA:169186 |
Coccidioidomycosis |
|
Abscess, Eosinophilia, Abnormality of the endocrine system, Abnormality of the spleen, Mediastina... |
ORPHA:228123 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Precocious puberty... |
ORPHA:254346 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Coxa valga, Micrognathia, Hydrocephalus, Dee... |
OMIM:619833 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Femoral bowing, St... |
OMIM:615415 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, High, narrow palate, Midclavicular hypoplasia, Clubbing of fingers, ... |
ORPHA:79076 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scoliosis, Clinodactyly |
OMIM:181405 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Deep philtrum, Orofacial cleft, Lobar h... |
OMIM:609637 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Broad hallux, Sandal gap, Dental crowding, Hyperl... |
OMIM:616078 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology, Cleft palate, Cleft upper lip |
ORPHA:398189 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Asplenia, Wide anterior fon... |
OMIM:617746 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro... |
ORPHA:93324 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Kyphosis, Postaxial hand polydactyly, Abnormal mesentery morphology, Abnormality of... |
ORPHA:2075 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Lethargy, Goiter |
OMIM:274400 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic isle... |
ORPHA:263455 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Spinal rigidity, Short neck, Kyphosis, Micrognathia, Hip dislocation, Scoliosis, Increa... |
ORPHA:75840 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Central Neurocytoma |
|
Lethargy, Abnormal lateral ventricle morphology, Hydrocephalus, Depression |
ORPHA:73256 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate... |
ORPHA:2712 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Micrognathia, Postnatal growth retardation, Cryptor... |
OMIM:616145 |
Coffin-Siris Syndrome 3 |
|
Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, Macroglossia, Delayed eruption ... |
OMIM:614608 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ventriculomegaly, Cachexia |
ORPHA:1933 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:927 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... |
OMIM:166210 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphaden... |
ORPHA:99812 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... |
ORPHA:380 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Enanthema, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Lymphocytosis |
ORPHA:139402 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Lumbar hyperlordosis, Short neck, Metaphyseal widening, Irregular epiphyse... |
OMIM:612813 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Scoliosis, L... |
OMIM:618825 |
H Syndrome |
|
Hallux valgus, Decreased testicular size, Diabetes mellitus, Microcytic anemia, Cleft upper lip, ... |
ORPHA:168569 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Ventriculomegaly, Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorch... |
ORPHA:261250 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, He... |
ORPHA:2348 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
3Mc Syndrome |
|
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Craniosynostosis, Hip dislocation,... |
ORPHA:293843 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hepatomegaly, Splenomegaly, Hydrocephalus, Broad thumb, Smooth philtrum |
ORPHA:585 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Overweight, Persistence of hemoglobin F, Increased... |
OMIM:619769 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Kyphosis, Cryptorchidism, Short metatarsal, Small hand, Short ... |
OMIM:180870 |
Renal Hypoplasia, Bilateral |
|
Small for gestational age, Cryptorchidism, Lethargy, Failure to thrive, Anemia |
ORPHA:97362 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Hydrocephalus, Femoral bow... |
OMIM:616482 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Protruding tongue, Cryptorchidism, Hydrocephalus, Retrognathia, Alveolar ridge overgr... |
OMIM:612938 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Occipital encephalocele, Portal hypertension, Splenomegaly, Postaxial hand polydact... |
ORPHA:1454 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... |
OMIM:616084 |
Marfan Syndrome |
|
Osteopenia, Arachnodactyly, Protrusio acetabuli, Cachexia, Dental crowding, Micrognathia, Kyphosi... |
ORPHA:558 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Immunodeficiency 10 |
|
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver |
ORPHA:205 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, CSF pleocytosis, Hepatosplenomegaly, Anemia, ... |
OMIM:603553 |
Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Hepa... |
ORPHA:1333 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Abnormal form of the verteb... |
ORPHA:93262 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormality of neutrophils, Hydrocephalus, Reduced bone mineral density, High pal... |
ORPHA:2720 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Thin upper lip vermilion |
OMIM:609384 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... |
OMIM:194190 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hammertoe, Lumbar hyperlordosis |
ORPHA:435387 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Obesity, Type II diabetes mellitus... |
ORPHA:3191 |
Frontorhiny |
|
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplas... |
ORPHA:391474 |
Primary Ciliary Dyskinesia |
|
Asplenia, Hydrocephalus, Clubbing, Polysplenia, Chronic sinusitis, Ventriculomegaly |
ORPHA:244 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Scoliosis, Flexion contractu... |
OMIM:618484 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Hepatomegaly, Delayed eruption of primary teeth, Carious ... |
OMIM:216400 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Cartilage destruction, Splenomegaly, Leu... |
ORPHA:829 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet... |
OMIM:102500 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platyspondyly, Hip dysplasia, Abno... |
ORPHA:2655 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Micrognathia, Lobulated tongue... |
OMIM:249000 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia |
OMIM:616604 |
Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Cachexia, Spina bifida, Cryptorchidism, Postaxial han... |
ORPHA:3380 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, High palate, Wide... |
OMIM:143095 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Decreased proportion of C... |
ORPHA:90362 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Biotinidase Deficiency |
|
Splenomegaly, Lethargy, Hepatomegaly |
OMIM:253260 |
Anti-Glomerular Basement Membrane Disease |
|
Anemia, Persistence of primary teeth |
ORPHA:375 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Retrognathia, B lymphocytopenia |
OMIM:614069 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Cachexia, Abnormality of the thyroid gland, Kyphosis, Scoliosis, Short hard pa... |
ORPHA:1969 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Increased CSF lactate, High palate, Lethargy, Ventriculomegaly |
OMIM:604377 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... |
ORPHA:1422 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Normoch... |
OMIM:615512 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... |
OMIM:119600 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce... |
OMIM:187600 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... |
ORPHA:3429 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kypho... |
ORPHA:3082 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Kyphosis, Hydrocephalus, Platyspondyly, High palate, Lambdoidal cr... |
OMIM:616294 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Osteopenia, Micrognathia, Hydrocephalus, Coronal craniosynostosis, R... |
OMIM:112240 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hepatomegaly, Delayed eruption of... |
OMIM:135500 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Ventriculomegaly, Radial bowing, Postaxial polydactyly, Micrognathia, U... |
OMIM:617866 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... |
ORPHA:3219 |
8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Precocious puberty, Long fingers, Cryptorchidism, Micrognathia, Hip dislocation, High... |
ORPHA:96092 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Short neck, Hydrocephalus, Clinodactyly, Abnormal palate morphology |
ORPHA:251046 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Growth delay, Cryptorchidism, Short femur, Genu valgum |
OMIM:617798 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... |
ORPHA:324737 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Micrognathia, Persistence of primary teeth, Narrow mouth, Abnormality... |
ORPHA:2785 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Aplastic anemia, Hypergonadotropic hypogonadism, Short neck, Absent thumb, Hydr... |
OMIM:300514 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Alobar holoprosencephaly, Kyphosis, Cryptorchidism, High palate, Sho... |
OMIM:615433 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi... |
OMIM:300337 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation... |
OMIM:268400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Micrognathia, D... |
OMIM:609757 |
Multiple Myeloma |
|
Osteopenia, Splenomegaly, Lymphadenopathy, Weight loss, Vertebral compression fracture, Anemia |
ORPHA:29073 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Increased CSF lactate, Stillbirth, Tongue fasciculations, Neonatal death, Lethargy,... |
OMIM:614922 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Metaphyseal wid... |
OMIM:618476 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Small for gestational age, Delayed eruption of primary teeth... |
OMIM:133540 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Decreased circulating progesterone, Primary gonadal insufficiency, Lethargy |
OMIM:603896 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Sézary Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly |
ORPHA:3162 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes... |
ORPHA:436252 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis |
OMIM:620285 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Glutaric Acidemia Type 3 |
|
Lethargy, Sacral dimple, Failure to thrive |
ORPHA:35706 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Kyphosis, Hydrocephalus, Platyspondyly, Holoprosencephaly, Abnormal metaphysis mor... |
ORPHA:93274 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... |
OMIM:618506 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Pla... |
OMIM:300863 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Sotos Syndrome |
|
Mandibular prognathia, Cryptorchidism, High, narrow palate, Long metacarpals, Increased body weig... |
OMIM:117550 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of finger, Downturned corners of mouth... |
ORPHA:1895 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Type I diabe... |
ORPHA:181 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Obesity, Scoliosis |
ORPHA:98863 |
Bresek Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Hemivertebrae, Cleft palate, Scoliosis... |
ORPHA:85284 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, High, narrow palate, Split hand, Obesity, Scoliosis |
OMIM:618124 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:98855 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Abnormality of the endocrine system, Short toe, Truncal ... |
ORPHA:633 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micrognathia, Postaxial hand polydacty... |
OMIM:241800 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Narrow mouth, Thyroiditis, Fu... |
OMIM:158350 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Cachexia, Hashimoto thyroiditis, Micrognathia, Narrow palate, Thy... |
ORPHA:109 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Diffuse hepatic... |
ORPHA:746 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Stomatitis, Osteoporosis, Thyroiditis, Rickets, Weight loss, Depression, Iron ... |
OMIM:212750 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hydrocephalus, Preaxial polydactyly, Obesity, Hypogonadism, Delaye... |
ORPHA:141333 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Cryptorchidism, Kyphosis,... |
ORPHA:90322 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Increased bone mineral density, Micrognathia, Cryptorchidism, Deep p... |
ORPHA:1237 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Sinusitis, B lymphocytopenia |
ORPHA:70593 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Kyphosis, Platyspondyly, Decreased calvarial ossification, Scoliosis, Dentinog... |
OMIM:259440 |
Huntington Disease-Like 2 |
|
Depression, Bradykinesia, Weight loss, Apathy, Inertia |
OMIM:606438 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... |
OMIM:620099 |
Alg12-Cdg |
|
Thin upper lip vermilion, Decreased serum insulin-like growth factor 1, Ventriculomegaly, Sandal ... |
ORPHA:79324 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Abnormality of the dentition, Abnormality of the pa... |
ORPHA:2315 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation, High pala... |
ORPHA:536467 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Thin vermilion border |
ORPHA:1532 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Hydrocephalus, High palate, Sco... |
OMIM:612940 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Short neck, Abnormality of the dentition, Kyphosis, Small hand, Short foot, Downt... |
ORPHA:238750 |
Lysinuric Protein Intolerance |
|
Osteopenia, Hepatomegaly, Decreased response to growth hormone stimulation test, Osteoporosis, He... |
ORPHA:470 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased CSF lactate, Increased CSF glycine concentration, Neonatal death, Lethargy, Failure to ... |
OMIM:605711 |
Holoprosencephaly |
|
Short neck, Abnormality of the spleen, Deep philtrum, Abnormal form of the vertebral bodies, Holo... |
ORPHA:2162 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Micrognathia, Protruding tongue, Macrogl... |
ORPHA:2268 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decreased circul... |
OMIM:619510 |
Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Sandal gap, Overweight, Carious teeth, Small hand, Ob... |
OMIM:619229 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Osteoporosis, Coxa vara, Short femoral ... |
ORPHA:2848 |
Lowry-Maclean Syndrome |
|
Osteopenia, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Abnormalit... |
ORPHA:2409 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Carious teeth, Wide anterior fon... |
OMIM:607812 |
Apert Syndrome |
|
Mandibular prognathia, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal... |
OMIM:101200 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Sc... |
OMIM:616362 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Osteoporosis, Truncal obesity... |
ORPHA:73272 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Toe syndactyly, Lumbar hyperlordosis, Decreased response to growth hormone stimulation... |
OMIM:619234 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o... |
OMIM:617099 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Short neck, Micrognathia, Metaphyseal ... |
OMIM:224400 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Narrow mouth |
ORPHA:324581 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Wide anterior fontanel, Hydrocephalus, Decreased body weight, Chole... |
OMIM:614886 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Splenomegaly, Increased CSF lactate, Tongue fasciculations, Lethargy, Failure to th... |
OMIM:252010 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Sacral dimple, Broad toe, Dental crowding, Craniosynostosis, Micrognathia, Abn... |
ORPHA:93932 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy... |
ORPHA:169090 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, M... |
ORPHA:476126 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Scoliosis |
ORPHA:300605 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia,... |
OMIM:114290 |
Opitz-Kaveggia Syndrome |
|
Dental crowding, Short neck, Micrognathia, Prominent fingertip pads, Syndactyly, Lumbar hyperlord... |
OMIM:305450 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephal... |
ORPHA:163966 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hy... |
ORPHA:83617 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal femoral epiphysis morp... |
ORPHA:3218 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the... |
OMIM:619269 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis |
OMIM:607155 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:98853 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... |
ORPHA:3353 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Diabetes mellitus, Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Osteopo... |
OMIM:615381 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Kyphosis, Cryptorc... |
ORPHA:3121 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Megaloblastic anemia, Jaundice, Hydrocephalus, Neutropenia, Stomatitis, Lethargy... |
ORPHA:79282 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Lethargy, Increased CSF glycine concentration |
OMIM:614299 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Hydrocephalus, Scoliosis |
ORPHA:99947 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Kyphosis, High palate, Scoliosis, Clinodactyly |
ORPHA:178148 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... |
OMIM:169550 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Micrognathia, Kyphosis, Hip dislocatio... |
OMIM:618291 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptoda... |
ORPHA:261330 |
Kleeblattschaedel |
|
Hydrocephalus, Craniosynostosis |
OMIM:148800 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy, Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormality of the vertebral ... |
OMIM:276950 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Kyphosis, Wide anterior fonta... |
OMIM:259420 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per... |
ORPHA:46627 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Absent frontal sinuses, Chronic sinusitis, Communicating hydrocephalus |
OMIM:244400 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,... |
OMIM:268310 |
Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate,... |
ORPHA:798 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Hand clenching, Abnormal pelvic ... |
OMIM:157900 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis |
ORPHA:85317 |
Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hepatomegaly, Hypothyroidism, Lethargy |
ORPHA:254913 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Micrognathia, Myelomeningocele, Hydrocep... |
ORPHA:2437 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Kyphosis, Crypto... |
OMIM:619005 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, Conical tooth, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Eosinophilia, Camptodac... |
ORPHA:464 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Exaggerated cupid's bow, Tapered fing... |
ORPHA:2215 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi... |
OMIM:602535 |
Noonan Syndrome 14 |
|
Short neck, Cryptorchidism, Kyphosis, High, narrow palate, Wide mouth, Lateral ventricle dilatati... |
OMIM:619745 |
Cog1-Cdg |
|
Smooth philtrum, Irregularity of vertebral bodies, Thin upper lip vermilion, Osteopenia, Kyphosco... |
ORPHA:263508 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... |
ORPHA:236 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Slender build |
OMIM:300676 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Abnormal 5th finger ... |
ORPHA:1439 |
Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
Diabetic Embryopathy |
|
Micrognathia, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Abnormal sacrum morphol... |
ORPHA:1926 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Clubbing of toes, Weight loss |
ORPHA:2198 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Pancytopenia, Ventriculomegaly |
OMIM:618321 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge... |
OMIM:617952 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Hypoplastic ischia, Bowing of the legs, Hypoplastic ilia, Short ... |
ORPHA:1865 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa... |
OMIM:619736 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, High, narrow palate, Tapered finger |
OMIM:619255 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h... |
ORPHA:94089 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasi... |
ORPHA:564 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Dental crowding, Abnormal... |
ORPHA:79329 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Abnormality of the dentit... |
ORPHA:90321 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short philtrum, Advan... |
OMIM:619148 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decr... |
ORPHA:289494 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mandibular prognathia, Pancytopenia, Osteopenia, Craniosynostosis, S... |
ORPHA:309282 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Weight loss, ... |
ORPHA:1332 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Kyphoscoliosis |
OMIM:300886 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognath... |
OMIM:220210 |
Semilobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93924 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Tapered toe, Tapered finger, Long fingers, Lipid accumulation in hepatocy... |
OMIM:608836 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal shoulder morphology, Abno... |
ORPHA:2115 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thi... |
ORPHA:2983 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Elliptocytosis, Talipes equinovaru... |
OMIM:300990 |
3C Syndrome |
|
Finger syndactyly, Ventriculomegaly, Adrenal hypoplasia, Short neck, Micrognathia, Kyphosis, Hydr... |
ORPHA:7 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Small for gestational age, Short neck, Micrognathia, Cryptorchidism, Hydrocepha... |
OMIM:257300 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, High palate, Broad philtrum, Weight loss |
OMIM:620045 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Mandibular prognathia, Arachnodactyly, Large for gestational age, Hy... |
OMIM:617011 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Small for gestational age |
OMIM:618302 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:33577 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Reduced bone mineral density, Vertebral compression... |
OMIM:620232 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro... |
ORPHA:363958 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Increased CSF phenylalanine concentration |
OMIM:233910 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Lumbar hyperlordosis, Hydrocephalus, Macroglos... |
ORPHA:370959 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Weight loss, Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Postaxial hand p... |
OMIM:607361 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Large for gestational age, Micrognathia, Kyphosis, Hydrocephalu... |
ORPHA:314588 |
Recon Progeroid Syndrome |
|
Smooth philtrum, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placemen... |
OMIM:620370 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Disproportionate short stature, Flexion contracture, Epiph... |
OMIM:222765 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:86812 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Anterio... |
OMIM:309350 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Micrognathia, Hypoplasia... |
OMIM:601812 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Micrognathi... |
ORPHA:280365 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... |
OMIM:609162 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Micrognathia, Shoulder dislocation, Microdontia, Dislocated radial head, ... |
OMIM:245600 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Del... |
ORPHA:1652 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Micromelia, Finger clinodactyly, Clinodactyly of the 5th finger, Spin... |
ORPHA:508488 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... |
ORPHA:84 |
Congenital Myopathy 10B, Mild Variant |
|
Cleft palate, High palate, Scoliosis, Hyperlordosis |
OMIM:620249 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Splenomegaly, Cervical lymphadenopat... |
ORPHA:50918 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Thin upper lip vermilion, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypog... |
ORPHA:2232 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Short neck, Jaundice, Hepatosplenomega... |
ORPHA:168577 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Sho... |
OMIM:259775 |
Trisomy 20P |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... |
ORPHA:261318 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Kyphoscoliosis, Conical tooth, Leu... |
OMIM:308300 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Kyphoscoliosis, Hyperlordosis, Thyroid C cell hyperplasia, Cervic... |
ORPHA:653 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Biemond Syndrome Ii |
|
Abnormality of the endocrine system, Preaxial hand polydactyly, Hydrocephalus |
OMIM:210350 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Bipolar affective disorder, Osteoporosis, Depression, Bradyki... |
ORPHA:254892 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Dental crowding, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Hydrocepha... |
OMIM:130720 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Obesity, T... |
OMIM:157980 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Femoral... |
OMIM:616723 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Hydrocephalus, Gingival overgrowth, Hepatosplenomegaly, Polydactyly |
ORPHA:93400 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Failure t... |
OMIM:616034 |
Citrullinemia Type Ii |
|
Hepatomegaly, Pancreatitis, Mania, Hepatic fibrosis, Hepatocellular carcinoma, Lethargy, Delayed ... |
ORPHA:247585 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventriculomegaly, Microretrognathia, Failure to thrive in infancy... |
OMIM:619418 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ... |
ORPHA:2614 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, High palate, Scoliosis |
ORPHA:353327 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Carious teeth, ... |
ORPHA:2769 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Depression, Scoliosis, Hyperlordosis |
OMIM:128100 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Kyphosis, Hip dislocation, Obesity, Downturned corners of mouth, S... |
ORPHA:464282 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... |
ORPHA:1572 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Small hand, Short foot, Bradykinesia, Scoliosis |
OMIM:617435 |
Trisomy 17P |
|
Tapered finger, Short neck, Micrognathia, Hydrocephalus, Orofacial cleft, Cleft palate, Wide mout... |
ORPHA:261290 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Stromme Syndrome |
|
Accessory spleen, Micrognathia, Hydrocephalus, Preaxial polydactyly, Cleft palate, Wide mouth, St... |
OMIM:243605 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Lethargy |
OMIM:600649 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Precocious puberty, Narrow mouth, Delayed eruption of permanent teeth, Short distal... |
OMIM:619356 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, CSF pleocytosis, Lymphadenopathy, Anemia, Cholestatic liver... |
ORPHA:540 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity, Thoracic kyp... |
OMIM:617114 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein concentration, Apathy |
OMIM:203450 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognathia, Insulin-r... |
OMIM:269880 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Kyphosis, Os... |
OMIM:620351 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Marburg Hemorrhagic Fever |
|
Back pain, Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infectio... |
ORPHA:99826 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, S... |
OMIM:176270 |
Citrullinemia Type I |
|
Lethargy, Failure to thrive |
ORPHA:247525 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Kyphosis, Thick vermilion border, Ever... |
OMIM:300280 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Abnormal mitochondrial shape, Growth delay, Polydactyly, Failure to t... |
ORPHA:17 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Dilated third ventricle, Small hand, Hydrocephalus, Short f... |
ORPHA:500055 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Hepatic steatosis, Hyperlordosis |
ORPHA:369840 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Micrognathia, Large for gestational age, Kyphosis, Wide anterior fontanel |
OMIM:618272 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Hyperlordosis, Wide anterior fontanel, Hepatic periportal necrosis |
ORPHA:26791 |
Chronic Hiccup |
|
Depression, Weight loss |
ORPHA:396 |
Dextrocardia |
|
Congenital hip dislocation, Abnormality of the spleen, Hydrocephalus, Abnormality of abdominal si... |
ORPHA:1666 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... |
ORPHA:952 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Smooth philtrum, Short neck, Micrognathia, High, narrow palate, Hydrocephalus, Colpocephaly, High... |
OMIM:620156 |
Juvenile Huntington Disease |
|
Bradykinesia, Depression, Ventriculomegaly, Weight loss |
ORPHA:248111 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad... |
ORPHA:649929 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, Hip dislocation, Abnormality of the vertebr... |
OMIM:109120 |
Infantile Krabbe Disease |
|
Failure to thrive, Increased CSF protein concentration, Cachexia |
ORPHA:206436 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati... |
ORPHA:77301 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... |
OMIM:619950 |
X-Linked Creatine Transporter Deficiency |
|
Malar flattening, Open mouth, Cachexia |
ORPHA:52503 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Micrognathia |
OMIM:619036 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Kyphosis... |
ORPHA:2916 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism, Lethargy |
ORPHA:3282 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Kyphosis, Osteoporosis, Vertebral wedging, Coxa vara, Platy... |
OMIM:259450 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Depression, Short foot, Hand... |
ORPHA:250989 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Absent thumb, Absent rad... |
OMIM:227646 |
Kabuki Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, High palate, Widely spaced... |
ORPHA:2322 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrin... |
ORPHA:391487 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Dow... |
OMIM:109400 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of eruption of pe... |
ORPHA:3238 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... |
ORPHA:251014 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Hypopituitarism, Hypothyr... |
ORPHA:90065 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchidi... |
OMIM:610253 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Tapered finger, Weight loss, Abnormal testis morphology, Brachydactyly |
ORPHA:317 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ... |
OMIM:601957 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Thrombocytopenia |
OMIM:253270 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age, Cholestasis |
OMIM:609015 |
Acalvaria |
|
Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencephaly |
ORPHA:945 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Lethargy |
OMIM:210200 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... |
OMIM:203800 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Arachnodactyly, Craniosynostosis, Micrognathia, Metatarsus adductus, Wide anterior fo... |
OMIM:182212 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Pancr... |
OMIM:602782 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Abnormal form of the vertebral bo... |
ORPHA:2067 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Kyphosis, Cryptorchidism, Deep phi... |
ORPHA:404440 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Malar flattening, Kyphosis, Cryptorchidism, Narrow palate, Short upper lip... |
ORPHA:364028 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Weight loss |
ORPHA:449400 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Craniofacial hyperostosis, Adenoiditis, Avascular necrosis of the capital femoral e... |
ORPHA:581 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Hypoplasia of the maxilla, Spinal canal stenosis, Narrow ... |
OMIM:277600 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly ... |
ORPHA:2462 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Block vertebrae, Asplenia, Aqued... |
OMIM:306955 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Dandy-Walker m... |
OMIM:616300 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Follicular hyperplasia, Splenomegaly, Hepati... |
OMIM:619381 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepato... |
ORPHA:171 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Abnor... |
ORPHA:85450 |
Monosomy 18Q |
|
Mandibular prognathia, Arachnodactyly, Kyphoscoliosis, Tapered finger, Bilateral cryptorchidism, ... |
ORPHA:1600 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Patella... |
OMIM:161200 |
Graft Versus Host Disease |
|
Trismus, Jaundice, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Hemophagoc... |
ORPHA:39812 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Kyphoscoliosis, Hyperlordosis, Micrognathia, Abnormal tibia morphology, Hydrocephalus,... |
ORPHA:363700 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri... |
ORPHA:93325 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hydrocephalus, High palate, Prominent fingertip pads, Open mouth, Thick... |
OMIM:300558 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Osteolysis, Lymphadeno... |
ORPHA:809 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Hydrocephalus, Narrow palate, Multiple sut... |
ORPHA:207 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Precocious puberty, Jaun... |
ORPHA:370348 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Short ne... |
OMIM:613776 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Kleefstra Syndrome 2 |
|
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis |
OMIM:617768 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Thin upper lip vermilion, Hydrocephalus, Downturned corners of mouth, Slender long bo... |
OMIM:618590 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Rocker bottom foot, Short neck, Kyphosis, Hip dislocation, Cl... |
OMIM:301041 |
Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hydrocephalus, Scoliosis, Open mouth, Ventriculomegaly |
OMIM:616355 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Abnormal cartilage matrix |
OMIM:245650 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Anemia |
ORPHA:52417 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas, Abnormal vertebral morphology |
ORPHA:210122 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Short neck, Cleft upp... |
OMIM:612582 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Short neck, Micrognathia, High, narrow palate, Downturned corners of... |
OMIM:122470 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:96169 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Dilated t... |
ORPHA:464738 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hypothyroidism, Hepatic steatosis, Hepatomegal... |
ORPHA:79259 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of taste sensation, Sinusitis, Abnormal cerebrospinal fluid morphology, CSF lymphocyt... |
ORPHA:68 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Lumbar hyperlordosis, Short neck, Broad thumb, Brachydactyly |
ORPHA:171866 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Micrognathia, Kyphosis, Irregular femoral epiphysis, Submucous cleft hard palate,... |
OMIM:108300 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... |
OMIM:218400 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal dental enamel morphology, Scoliosis |
ORPHA:816 |
Mucolipidosis Type Ii |
|
Hip contracture, Craniosynostosis, Kyphosis, Splenomegaly, Hip dislocation, Gingival overgrowth, ... |
ORPHA:576 |
Iniencephaly |
|
Encephalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Myelomeningocele, Absent vertebra... |
ORPHA:63259 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Osteo... |
OMIM:307030 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Kyphosis, Osteoporosis, Mild fetal ventriculomegaly, ... |
OMIM:617190 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Lethargy, Hepatic steatosis |
OMIM:201475 |
Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Lethargy |
ORPHA:156 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Postaxial polydactyly, Short neck, Micrognathia, Wide anterior f... |
OMIM:617925 |
Jacobsen Syndrome |
|
U-Shaped upper lip vermilion, Short neck, Micrognathia, Cryptorchidism, Hydrocephalus, Holoprosen... |
OMIM:147791 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:85414 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Short toe, Osteoporosis, Hepatosplenomegaly, Ane... |
ORPHA:333 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Lethargy |
OMIM:255120 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... |
OMIM:611134 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Thoracic scoliosis, Absent nipple, Broad hallux, Aplasi... |
OMIM:620186 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Weight loss |
ORPHA:411593 |
Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short p... |
ORPHA:53271 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Retrognathia, Mala... |
OMIM:620157 |
Tenorio Syndrome |
|
Mandibular prognathia, Osteopenia, Hydrocephalus, Wide mouth, Macroglossia, Recurrent aphthous st... |
OMIM:616260 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar s... |
OMIM:609128 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Absent radius, Short neck, Hydrocephalus, Micrognathia, Cleft p... |
OMIM:614083 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
Tetrasomy 5P |
|
Overlapping toe, Short hallux, Short neck, Micrognathia, Wide anterior fontanel, Long fingers, Hy... |
ORPHA:3309 |
Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, High palate, Scoliosis, Narrow mouth, Long philtrum |
ORPHA:1545 |
Huntington Disease-Like 1 |
|
Depression, Abnormal shoulder morphology, Bradykinesia, Weight loss, Ventriculomegaly |
ORPHA:157941 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... |
OMIM:123500 |
Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
Marden-Walker Syndrome |
|
Arachnodactyly, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel, Cryptorchidism, High,... |
OMIM:248700 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Dental crowding, Carious teeth, Kyphosis, Cryptorchidism, Downturned ... |
OMIM:617602 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Holopro... |
OMIM:270400 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Disloca... |
OMIM:265000 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Pancytopenia, Ventriculomegaly, Increased bone mineral density, Splenom... |
ORPHA:355 |
Meningococcal Meningitis |
|
Hypoglycorrhachia, CSF pleocytosis, Increased CSF protein concentration, Lethargy |
ORPHA:33475 |
Familial Calcium Pyrophosphate Deposition |
|
Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage |
ORPHA:1416 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Hol... |
ORPHA:818 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Kyphosis, Flexion contracture of finger, Sandal gap |
OMIM:619040 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... |
OMIM:614120 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Tapered finger |
OMIM:618367 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Hemivertebrae, Abnormal finger morphology, Downturne... |
ORPHA:79500 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border |
OMIM:616455 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Failure... |
OMIM:617718 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Scoliosis, Hyperlordosis |
OMIM:253700 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Tapered finger, Micrognathia, Kyphosis, 2-... |
OMIM:617061 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip |
ORPHA:77300 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Abnormal fib... |
ORPHA:2063 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obesity, Lethargy |
ORPHA:26793 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Hydrocephalus, Hepatomegaly |
OMIM:231005 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Hydrocephalus, Annular pancreas, 2-3 toe syndactyly... |
OMIM:618162 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hepatic necrosis, Hyperinsulinemic hypoglycemia, Lethargy, Failure to t... |
ORPHA:71212 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Sacral dimple, Aplastic anemia, Micrognathia, Carious teet... |
OMIM:223370 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Hypoplasia of the maxilla, Short metata... |
OMIM:608328 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Congenital hip dislocation, Dental crowding, Kyph... |
ORPHA:2020 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Aphthous ulcer, Oral... |
OMIM:615688 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus, Obesity |
OMIM:616521 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Asymmetry of the mouth, Kyphosis, Wid... |
ORPHA:401973 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Ventriculomegaly |
ORPHA:324416 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hydrocephalus, High palate, Camptodactyly, Dan... |
OMIM:614846 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Scoliosis |
OMIM:201470 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Syndactyly, Hamartoma of tong... |
OMIM:311200 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,... |
ORPHA:331235 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Hydrocephalus, Narrow mouth |
ORPHA:83473 |
Feingold Syndrome 1 |
|
Accessory spleen, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe syn... |
OMIM:164280 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Smooth philtrum, Syndactyly, Lumbar hyperlordosis, Micrognathia, Cryptorchidism, Cleft lip, Furro... |
OMIM:616975 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... |
ORPHA:668 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Short metatarsal, Scolios... |
OMIM:248800 |
Gapo Syndrome |
|
Hepatomegaly, Micrognathia, Wide anterior fontanel, High, narrow palate, Thick lower lip vermilio... |
OMIM:230740 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S... |
ORPHA:140 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Cryptorchidism... |
ORPHA:2962 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Cleft upper lip, Kyphosis, Cryptorchi... |
OMIM:610443 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Kyphosis, Postaxial hand polydactyly, Cryptorchid... |
ORPHA:3378 |
Pettigrew Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Wide mouth, Thick ve... |
OMIM:304340 |
Maple Syrup Urine Disease |
|
Lethargy, Pancreatitis |
OMIM:248600 |
Tetraamelia Syndrome 1 |
|
Micrognathia, Asplenia, Cleft upper lip, Hydrocephalus, Cleft palate, Hypoplastic pelvis, Adrenal... |
OMIM:273395 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Myelomeningo... |
OMIM:613686 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Jaundice |
OMIM:616483 |
Pediatric Systemic Lupus Erythematosus |
|
Oral ulcer, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thromboc... |
ORPHA:93552 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Micrognathia, Hyperlordosis, Hypoplastic sweat glands, Dental malocclusion, Localized... |
ORPHA:73223 |
Atelis Syndrome 2 |
|
Sacral dimple, Micrognathia, Diastema, Kyphosis, Elevated circulating thyroid-stimulating hormone... |
OMIM:620185 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Spinal rigidity, Kyphosis, Hip dislocation, High palate, Scoliosis, Increased laxity of fingers, ... |
OMIM:254090 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Weight loss, Abnormality of th... |
ORPHA:781 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... |
OMIM:180700 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hepatic steatosis, Lethargy |
OMIM:201450 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Kyphosis, Absent phalangeal crease, High palate, Congenital finger flexion contra... |
OMIM:108145 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,... |
OMIM:277590 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Cryptorchidism, Hydrocephalus, Dental malocclusion, Slender toe, High palate, Dan... |
OMIM:310400 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Osteopenia, Decreased response to growth hormone stimulation test, ... |
ORPHA:91348 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol... |
OMIM:612651 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Oral ulcer, Hepatosplenomegaly, Lymphade... |
OMIM:260920 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Hepatomegaly, Thin upper lip vermilion, Osteopenia, Hypergonadotropic h... |
OMIM:212065 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:237300 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes ... |
OMIM:262190 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia, Delayed puberty |
ORPHA:1816 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
2P15P16.1 Microdeletion Syndrome |
|
Smooth philtrum, Sandal gap, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Metat... |
ORPHA:261349 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Microretrognathia, Postaxial hand polydactyly, Hydrocephalus, Dandy-Wal... |
OMIM:220220 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Micrognathia, Kyphosis, High palate, Short philtrum, Scoliosis, Evert... |
ORPHA:2479 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg... |
ORPHA:2062 |
Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, Kyphosc... |
ORPHA:457359 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hydrocephalus, Abnormal... |
OMIM:314390 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive |
ORPHA:2089 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Increased CSF lactate, Lethargy, Failure to thrive |
ORPHA:2609 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:304120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Scoliosis |
OMIM:300861 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... |
OMIM:619322 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Hydrocephalus, Ventriculomegaly |
OMIM:603387 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Craniosynostosis |
ORPHA:1528 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, High palate, Ventriculomegaly, Dislocated radial head |
OMIM:304100 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, High palate, Difficulty in tongue movements, Weight loss |
ORPHA:98897 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... |
OMIM:249420 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Micrognathia, Hydrocephalus, Retrognathia, Ventriculomegaly |
ORPHA:163961 |
Rat-Bite Fever |
|
Back pain, Parotitis, Lymphadenitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Oral ulcer, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis,... |
OMIM:301074 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Microgn... |
ORPHA:1908 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Shoulder dislocation, High palat... |
ORPHA:536532 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Overlapping fingers, Lymphopenia, Absent uvula |
OMIM:619708 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Mend Syndrome |
|
Microretrognathia, Smooth philtrum, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, K... |
OMIM:300960 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Cryptorchidism, Hydrocephalus, Orofacial cleft, Apla... |
ORPHA:3301 |
Hydrolethalus |
|
Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Submucous c... |
ORPHA:2189 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Wide mouth, Hand polydactyly, Foot polydactyly,... |
ORPHA:60040 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... |
ORPHA:100075 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Weight loss, Apathy, Thrombocytosis |
ORPHA:134 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Scoliosis |
ORPHA:3454 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Foot oligodactyly, Triphalang... |
OMIM:154400 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Short neck, Tapered finger, Cryptorchidism, Broad fingertip, Short metatars... |
ORPHA:2896 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo... |
OMIM:271665 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Tapered finger, Precocious puberty, Large for gestational age, Abnormality of the de... |
ORPHA:261652 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Becker Nevus Syndrome |
|
Supernumerary nipple, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta |
ORPHA:64755 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... |
ORPHA:171876 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Hydrocephalus, Failure to thrive, Ventriculomegaly |
ORPHA:395 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Hydrocephalu... |
ORPHA:1812 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp... |
ORPHA:392 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Kyphosis, Os... |
OMIM:239000 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100080 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Lateral ventricular asymmetry, Arachnodactyly, Craniosyn... |
OMIM:616914 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Kyphosis, Abnormality of the gallbladder, Anterior be... |
ORPHA:349 |
American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:3386 |
1Q44 Microdeletion Syndrome |
|
Smooth philtrum, Exaggerated cupid's bow, Micrognathia, Hydrocephalus, Thin vermilion border, Hig... |
ORPHA:238769 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Macroglossia, Scoli... |
ORPHA:258 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, H... |
OMIM:312870 |
Joubert Syndrome |
|
Encephalocele, Hydrocephalus, Abnormal form of the vertebral bodies, Orofacial cleft, Hand polyda... |
ORPHA:475 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clino... |
OMIM:224690 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepatic fibrosis |
OMIM:619111 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal... |
ORPHA:1647 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Bethlem Myopathy |
|
Lumbar hyperlordosis, Camptodactyly of finger, Interphalangeal joint contracture of finger, Spina... |
ORPHA:610 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, Solitary median maxillary central incisor, Toe syndactyly, High palate |
OMIM:619657 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Orofacial cleft, Cleft palate, Hand polydactyly, Foot polydactyly, ... |
ORPHA:220493 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, High palate |
ORPHA:171881 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Narrow mouth, Thyroiditis, Fu... |
OMIM:615108 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Diastema, Kyphosis, Cryptorchidism, Supernumerary toot... |
OMIM:619718 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Lethargy |
OMIM:212138 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, H... |
OMIM:280000 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Aplastic... |
ORPHA:50945 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hydrocephalus, Cleft palate, Polycystic ovaries, Lethargy, Failure to thrive |
ORPHA:137675 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatomegaly, Hyperlordosis, Hip dysplasia, Scoliosis, Hepatic steatosis |
OMIM:615356 |
Cryptococcosis |
|
Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Hydrocephalus, Osteolysis, Cirrhosis |
ORPHA:1546 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Micrognathia, Noncommunicating hydrocephalus, Short foot, Downturned ... |
OMIM:619320 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Micrognathia, Malar prominence, Cleft upper l... |
OMIM:251260 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Camptodactyly of finger, Ventriculomegaly |
ORPHA:272 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Osteolys... |
ORPHA:35687 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Clef... |
OMIM:239300 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neutropenia, Failure to thrive |
OMIM:601495 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Hepatic fibrosis, Lethargy, Failure to thrive, Elevated CSF argininosuccinic acid c... |
OMIM:207900 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Craniosynostosis, Short neck, Mi... |
ORPHA:96121 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Abnormality of the pancreas, Hydrocephalus, Cryptorchidism, Narrow palate, Clef... |
ORPHA:1555 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f... |
ORPHA:85138 |
Muscular Dystrophy, Duchenne Type |
|
Scoliosis, Hyperlordosis |
OMIM:310200 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Large for gestational age, Short neck, Cryptorchidism, High palate, Failure to thrive |
OMIM:607721 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Hyperlordosis, Osteoporosis, Macroglossia, Scoliosis, Difficulty in tongue movement... |
ORPHA:365 |
Adams-Oliver Syndrome 2 |
|
Micrognathia, Hydrocephalus, Lateral ventricle dilatation, Absent distal phalanges, Short middle ... |
OMIM:614219 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ... |
OMIM:145420 |
Sarcoidosis |
|
Abnormal cerebrospinal fluid morphology, Increased T cell count, Leukopenia, Hypothyroidism, Hemo... |
ORPHA:797 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Micrognathia, Cryptorchidism,... |
OMIM:247200 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermilion, Advanced eruption ... |
OMIM:617865 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal... |
ORPHA:198 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Orchitis, Splenomegaly, Abnormal sacroiliac joint morphology, Leukocytosis, Peritonitis, Lymphade... |
ORPHA:32960 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Cachexia, Short palm |
ORPHA:3217 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, High palate, Sh... |
OMIM:615866 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Trisomy 8P |
|
Short fourth metatarsal, Short neck, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5... |
ORPHA:264450 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Narrow mouth, Thyroiditis, Fu... |
OMIM:615109 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Osteopenia, Short femur, Short stature, Camptodactyly of finger, Hypopla... |
ORPHA:3455 |
Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Depression, Increased circulating cortisol l... |
ORPHA:97280 |
Huntington Disease |
|
Depression, Bradykinesia, Weight loss, Apathy, Decreased body mass index |
ORPHA:399 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Cachexia |
ORPHA:220295 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont... |
OMIM:614381 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Leukocytosis, Hydrocephalus, Genu valgum, Downturned corners of mouth, Abdomin... |
OMIM:619321 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Short neck, Micrognath... |
OMIM:261540 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Medulloblastoma |
|
Back pain, Lethargy, Hydrocephalus |
ORPHA:616 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Sup... |
ORPHA:2108 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Lethargy |
OMIM:215600 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Short neck, Tapered finger, Cryptorchidism, Mi... |
ORPHA:251071 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Gingi... |
ORPHA:33226 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, High palate, Phocomelia, Hyperplasia of the maxilla, A... |
OMIM:268300 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Kyphosis, Hip dislocation, V... |
ORPHA:1005 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Orofacial cleft, Cleft palate, Hand polydactyly, Scoliosis, Abnorma... |
ORPHA:220497 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... |
ORPHA:100082 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Abnormal circulating leptin concentration, Enlarged... |
ORPHA:2298 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Crypt... |
OMIM:616894 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Thin upper lip vermilion, ... |
ORPHA:163979 |
Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Lethargy, Cirrhosis |
OMIM:215700 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Carious tee... |
OMIM:278250 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, N... |
ORPHA:99867 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Lymphopenia, Cleft palate, Micrognathia |
ORPHA:2306 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Small hand, Cleft palate, Widely spaced t... |
ORPHA:459061 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH level, Abdominal o... |
OMIM:219090 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Smooth philtrum, Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Arachnod... |
ORPHA:500150 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Hip dislocation, Dental malocclusion, Cleft palate, Sho... |
OMIM:300867 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Weight loss, Failure to thrive |
ORPHA:79128 |
Postencephalitic Parkinsonism |
|
Camptocormia, Kyphosis, CSF lymphocytic pleiocytosis, Depression, Bradykinesia, Abnormal CSF prot... |
ORPHA:97349 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Oligodontia, Hypodontia, Delayed puberty |
ORPHA:447896 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Obesity, Narrow mouth |
ORPHA:261222 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Atypical Rett Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:3095 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Hydrocephalus |
OMIM:613155 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydroceph... |
ORPHA:3412 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Smooth philtrum, Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognat... |
OMIM:617527 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Bilateral cryptorchid... |
OMIM:211380 |
Baller-Gerold Syndrome |
|
Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abnormal vertebral morpholo... |
OMIM:218600 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity |
OMIM:601794 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Exaggerated cupid's bow, Micrognathia, Aqueduc... |
OMIM:619512 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly... |
OMIM:113620 |
Short Syndrome |
|
Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygo... |
ORPHA:3163 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Abno... |
ORPHA:2238 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Cryptorchidism, Lateral ventricle... |
OMIM:619244 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventriculomegaly, Micrognathia, Asplenia, Cleft lip, Pulmonary lymphangiectasia, Choroid plexus c... |
OMIM:265380 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:614409 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydac... |
OMIM:258850 |
Plaa-Associated Neurodevelopmental Disorder |
|
Smooth philtrum, Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bott... |
ORPHA:521426 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydroce... |
OMIM:612284 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Abnormal morphology of ulna, Short neck, Cryptorchidism, Hydrocepha... |
ORPHA:1340 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Rocker bottom foot, Craniosynostosis, Tapered finger, Cryptorchidism, H... |
ORPHA:1272 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... |
OMIM:618727 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Absent nipple, Congenital hip dislocation, Hydrocephalus, Hemivertebrae, High palate,... |
OMIM:104350 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Neonatal deat... |
OMIM:612289 |
Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:36412 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange... |
OMIM:300166 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... |
ORPHA:93259 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma, Weight loss |
ORPHA:764 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, High pal... |
OMIM:616449 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Overlapping toe, Micrognathia, Hydrocephalus, Cutaneous syndactyly, High palate... |
OMIM:617822 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Irregularity of vertebral bodies, Hepatomegaly, Splenomegaly, Enlarg... |
ORPHA:580 |
Perry Syndrome |
|
Depression, Apathy, Weight loss |
ORPHA:178509 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Low back pain, Weight loss, Neoplasm of the liver, Hypophosphatem... |
ORPHA:2126 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Lumbar hyperlordosis, Hypothyroidism |
ORPHA:3198 |
Alkaptonuria |
|
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... |
ORPHA:56 |
Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Kyphosis, Hydrocephal... |
ORPHA:2461 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Lethargy |
OMIM:229700 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Adrenal hypoplasia, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, H... |
OMIM:264480 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Arachnoid Cyst |
|
Back pain, Encephalocele, Enlarged fossa interpeduncularis, Diminished motivation, Abnormality of... |
ORPHA:2356 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the e... |
ORPHA:3384 |
Moderate Hemophilia A |
|
Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage |
ORPHA:169805 |
Giant Cell Arteritis |
|
Diabetes insipidus, Mediastinal lymphadenopathy, Depression, Weight loss, Glossitis |
ORPHA:397 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p... |
OMIM:302960 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Cranial hyperostosis, Hypoplastic sweat glands, Oligodontia, Hypodontia |
OMIM:601345 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis |
ORPHA:79107 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... |
ORPHA:3472 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... |
ORPHA:573278 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Dec... |
OMIM:182250 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Lethargy |
ORPHA:159 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Hydrocephalus, Hydrocele... |
OMIM:613603 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity |
OMIM:615084 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Increased circulating renin level, Lethargy, Failure to thrive, Decreased ... |
ORPHA:427 |
Keutel Syndrome |
|
Calcification of cartilage, Short distal phalanx of finger |
ORPHA:85202 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hypothyr... |
OMIM:615846 |
Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hydrocephalus, Malar flattening, Ventriculomegaly |
OMIM:218350 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Hydrocephalus, Meningocele, Cle... |
OMIM:614424 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Mandibular pain, Weight loss, Depression, Tongue pain, Abnorma... |
ORPHA:221098 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly... |
OMIM:305600 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly, Scoliosis, Abnormality of the h... |
ORPHA:2318 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Hypothyroidi... |
ORPHA:1606 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepatic ... |
ORPHA:881 |
Wrinkly Skin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Kyphoscoliosi... |
ORPHA:2834 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hydrocephalus, Hemivertebrae, Holoprosencephaly, Abnormal vertebral morphology |
ORPHA:77298 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Adducted thumb, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Small intestine c... |
ORPHA:100078 |
Papa Syndrome |
|
Type I diabetes mellitus, Lymphadenopathy |
ORPHA:69126 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of... |
ORPHA:769 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Ventriculomegaly |
ORPHA:500180 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Scoliosis |
OMIM:617542 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Precocious puberty, Hydrocephalus,... |
ORPHA:636 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl... |
OMIM:113300 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Widely spaced teet... |
OMIM:617799 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Oral ulcer, Cheilitis, Lymphadenopathy, Abnormal pigmentation of the oral mucos... |
ORPHA:536 |
L1 Syndrome |
|
Aqueductal stenosis, Depression, Hydrocephalus, Adducted thumb |
ORPHA:275543 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Kyphosis, Obesity, Genu valgum, Thick vermilion border, F... |
OMIM:618493 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Hypoplastic ilia, Cryptorchidism, Patel... |
ORPHA:85201 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Overlapping toe, Craniosynostosis, Hydrocephalus, Gingival overgrowth, Narrow palate... |
OMIM:123790 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Nephronophthisis 18 |
|
Hydrocephalus, Portal fibrosis, Cholestasis |
OMIM:615862 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Spin... |
ORPHA:1724 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, Short philtrum, ... |
OMIM:601499 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, High, narrow palate, Hydrocephalus, Submucous cleft hard pa... |
OMIM:612863 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis, Lethargy, Failure to thrive |
OMIM:617156 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Scoliosis, Femoral bowing ... |
OMIM:166220 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormality of the pineal gland, Abnormal dental morphology, Micrognat... |
ORPHA:369950 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Osteopenia, Short neck, Kyphosis, Hig... |
OMIM:300966 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
15Q14 Microdeletion Syndrome |
|
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S... |
ORPHA:261190 |
Aspartylglucosaminuria |
|
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Thick lower lip vermilion, Hypoplastic frontal si... |
OMIM:208400 |
Charge Syndrome |
|
Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Holoprosencephaly, Abnormality of ... |
ORPHA:138 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, B... |
ORPHA:1465 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Scoliosis |
OMIM:609008 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Failure to thrive, Lethargy |
ORPHA:1329 |
Zttk Syndrome |
|
Absent gallbladder, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Ky... |
OMIM:617140 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd... |
OMIM:236680 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Metatarsus adductus, Small hand, Genu valgum, S... |
ORPHA:300570 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Congenital hip dislocation, Premature thelarche, Autoimmune thrombocytopenia, M... |
OMIM:147920 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Supernumerary nipple, Short neck, Prominent crus of he... |
OMIM:619194 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sagittal craniosynostosis, Dandy-Walker malformation, Micrognathia |
OMIM:616901 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... |
OMIM:602200 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Ventriculomegaly, Craniosynostosis, Micrognathia, Cryptorchidism, ... |
ORPHA:2745 |
Adnp Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Broad hallux, Sandal gap, Abnormal toe morphology, Cry... |
ORPHA:404448 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... |
OMIM:300942 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Macroglossia, Abnormality of the liver, Abnormal ... |
ORPHA:85443 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Failure to thrive in infancy, Micrognathia, Hydrocephalus, Obesity, Malar ... |
OMIM:620155 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Macroglossia, Everted lower lip verm... |
ORPHA:261144 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis |
ORPHA:85193 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Scoliosis, Triangular mouth, Failure to thrive, Dandy-Walker malformation |
OMIM:617988 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Failure to thrive, Hepatitis, Lethargy |
ORPHA:415 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Short ne... |
OMIM:208150 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity |
ORPHA:352447 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental e... |
ORPHA:85199 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal... |
OMIM:618050 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Pontocerebellar Hypoplasia, Type 7 |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Deep philtrum, High palate, Tongue fasciculations, T... |
OMIM:614969 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive |
OMIM:210210 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Hydrocephalus, Polydactyly, Narrow mouth, Complete duplicat... |
ORPHA:59315 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Decreased CSF homovanillic acid concentration |
OMIM:608643 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Absent c... |
OMIM:307200 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Glutaric Acidemia I |
|
Hepatomegaly, Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Finger clinodactyly, Inc... |
ORPHA:8 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Hemivertebrae, Gonadotropin deficiency, Holoprosen... |
ORPHA:672 |
Oromandibular Dystonia |
|
Abnormality of the temporomandibular joint, Abnormal mandible morphology, Depression, Weight loss... |
ORPHA:93958 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... |
ORPHA:309031 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Postaxial polydactyly, Craniosynostosis, Postaxial hand polydact... |
OMIM:605627 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Recurrent aphthous stomatitis, Lymphadenopathy |
ORPHA:343 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Sacral dimple, Toe syndactyly, Camptodactyly of finger,... |
ORPHA:261337 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Dand... |
ORPHA:899 |
Trichinellosis |
|
Trismus, Apathy, Lethargy, Abnormal cerebrospinal fluid morphology |
ORPHA:863 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Peho Syndrome |
|
Tapered finger, Hydrocephalus, Gingival overgrowth, Abnormal palate morphology, Abnormal upper li... |
ORPHA:2836 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia |
ORPHA:2309 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Carney Triad |
|
Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Adrenocortical adenoma, Pheoc... |
ORPHA:139411 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Mandibular prognathia, Arachnodactyly, Dental crowding, Kyphoscoliosis, Kyphosis, Crypt... |
ORPHA:3063 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... |
ORPHA:261537 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ... |
OMIM:619475 |
Desmosterolosis |
|
Micrognathia, Generalized osteosclerosis, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate,... |
OMIM:602398 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Eosinophilia, Weight loss |
ORPHA:183 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening... |
OMIM:219800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis |
OMIM:618138 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Scoliosis,... |
ORPHA:522077 |
Encephalitis Lethargica |
|
Lethargy, Increased CSF protein concentration |
ORPHA:83600 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Cleft palate, Open mouth, Slender finger, Dandy-Walker malformation |
OMIM:147800 |
Caudal Regression Syndrome |
|
Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, H... |
ORPHA:3027 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Clinodactyly of the 5th ... |
OMIM:609638 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, High palate, Widely spaced teeth,... |
OMIM:303600 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Weight loss, En... |
ORPHA:79078 |
Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Short philtrum, Micro... |
ORPHA:2044 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Downturned corners of mouth, Widely spaced... |
ORPHA:199 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Sinusitis, Oral ulcer, Weight loss |
OMIM:608710 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Scoliosis |
OMIM:615249 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353277 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Flexion contracture of finger, Hypoplastic scapulae, Parotitis, Camp... |
OMIM:256040 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodactyly of the... |
OMIM:135900 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
Limb Body Wall Complex |
|
Encephalocele, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, Spina bifida,... |
ORPHA:2369 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... |
ORPHA:1071 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Abnormal p... |
ORPHA:449432 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Broad hallux, Dental crowding, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:353281 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Abnormality of the t... |
ORPHA:733 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
Restrictive Dermopathy 1 |
|
Natal tooth, Rocker bottom foot, Kyphoscoliosis, Adrenal hypoplasia, Micrognathia, Wide anterior ... |
OMIM:275210 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb |
ORPHA:2182 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Aphthous ulcer, Recurrent aphthous stomatitis, Weight loss |
OMIM:266600 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of... |
ORPHA:90003 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia, Delayed eruption of ... |
OMIM:129550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Spinal rigidity, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Scoli... |
OMIM:613150 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Hypoplasia of the premaxil... |
OMIM:610828 |
Tetrasomy 9P |
|
Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturned corners of mouth, High pal... |
ORPHA:3310 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop... |
ORPHA:144 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice |
OMIM:615751 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dental crowding, Kyphoscoliosis, Kyphosis, Cryptorchidism, High, narrow palate, Na... |
OMIM:300967 |
Perry Syndrome |
|
Bradykinesia, Depression, Apathy, Weight loss |
OMIM:168605 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Kyphosis, Abnormality of the thyroid g... |
ORPHA:201 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Wide anterior fontanel, Hydroc... |
OMIM:218040 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Short neck, Accessory oral frenulum, Hydrocephalus, Ham... |
OMIM:616546 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Reduced bone mineral density, High palate,... |
ORPHA:740 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:188580 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Thin vermilion border, Scoliosis, Delayed puberty, M... |
ORPHA:649 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Choreoacanthocytosis |
|
Hepatomegaly, Temporomandibular joint crepitus, Acanthocytosis, Abnormal erythrocyte enzyme level... |
ORPHA:2388 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb |
OMIM:307000 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... |
ORPHA:268261 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Abnormal oral cavity morphology, Weight loss |
ORPHA:704 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Thyroiditis, Lymphaden... |
ORPHA:289390 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Cryptorchidism, Po... |
ORPHA:2166 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis, Decreased body weight |
OMIM:182210 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Small for gestational age, Tapered finger, Kyphosis, Short toe, Cr... |
ORPHA:464311 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth, Breast aplasia, Hypoplastic nipples, Failure to thrive |
ORPHA:1231 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop... |
ORPHA:440437 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Small for gestational age, Arachnodactyly, Anterior pituitary hypo... |
ORPHA:464306 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Neonatal death,... |
OMIM:619534 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Micro Syndrome |
|
Micrognathia, Kyphosis, Cryptorchidism, High palate, Short philtrum, Scoliosis, Delayed puberty |
ORPHA:2510 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Wi... |
ORPHA:2152 |
Classic Homocystinuria |
|
Hepatomegaly, Arachnodactyly, Dental crowding, Kyphosis, Osteoporosis, Genu valgum, High palate, ... |
ORPHA:394 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta... |
OMIM:608091 |
Eisenmenger Syndrome |
|
Brain abscess, Hepatomegaly, Clubbing, Hypochromic microcytic anemia, Iron deficiency anemia, Abn... |
ORPHA:97214 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Macrodactyly,... |
ORPHA:314769 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus |
OMIM:615181 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Weight loss, Hydrocele testis, Hashimoto thyroiditis |
ORPHA:49041 |
Toxic Epidermal Necrolysis |
|
Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia |
ORPHA:36426 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insu... |
ORPHA:95409 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Calcaneovalgus deformity, Sh... |
ORPHA:261552 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Micrognathia |
OMIM:617802 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Dandy-Walker malformation, Ventriculo... |
OMIM:225790 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:268 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Abnormal dental enamel morphology, Weight loss |
ORPHA:79430 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive |
ORPHA:95427 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Jaundice, Lethargy |
ORPHA:469 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Cleft palate, Short clavicles, Lambdoidal craniosynostosis, ... |
OMIM:603116 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Myeloschisis, Hemisacrum, Myelomeningocele, Hydrocephalus, Meni... |
OMIM:600145 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:143 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Lateral ventricle dilatation, Failure to thrive, Thyroid C cel... |
OMIM:300952 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Carious teeth, Splenomegaly, Kyphosis, Scoliosis, Enamel hypoplasia |
ORPHA:90324 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... |
ORPHA:449395 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Cryptorchidism,... |
OMIM:219000 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac... |
OMIM:619557 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Macrodactyly,... |
ORPHA:963 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Meningioma |
|
Back pain, Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypog... |
ORPHA:2495 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Hypoplasia of the maxilla, Reduced bone mineral density, Downturned cor... |
OMIM:259050 |
Behçet Disease |
|
Orchitis, Splenomegaly, Oral ulcer, Lymphadenopathy, Weight loss, Recurrent aphthous stomatitis, ... |
ORPHA:117 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Kyphosis, Cryptorchidism, Hip dislocation, Rickets, Genu v... |
OMIM:309000 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive |
OMIM:311250 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Short neck, Deep philtrum, High palate, Open mou... |
ORPHA:1675 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the j... |
ORPHA:199276 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Hydranencephaly |
|
Lethargy, Ventriculomegaly, Atrophic pituitary gland |
ORPHA:2177 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... |
ORPHA:54595 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Holoprosencephaly, Scoliosis |
OMIM:253800 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Chronic sinusitis, Recurrent sinusitis, Weight loss |
ORPHA:420741 |
Developmental And Epileptic Encephalopathy 49 |
|
Tented upper lip vermilion, Hydrocephalus, Short philtrum, Everted lower lip vermilion, Open mout... |
OMIM:617281 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Jaundice, Cirrhosis, Lethargy, Failure to thrive, Hepatic steatosis |
OMIM:229600 |
Ramon Syndrome |
|
Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis, Decreased b... |
OMIM:266270 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Absence of the sacrum, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Pheochromoc... |
OMIM:162200 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Short fourth metatarsal, Anterior pituitary h... |
OMIM:619841 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Chronic lymphatic leukemia, Weight loss |
ORPHA:91139 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Occipital encephalocele, Natal tooth, Broad hallux, Hamartoma of tongue, Micro... |
OMIM:615948 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Thrombocytopenia |
ORPHA:466650 |
Biotinidase Deficiency |
|
Myelopathy, Lethargy |
ORPHA:79241 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Tibial bowing, Platyspo... |
OMIM:259770 |
Posterior Urethral Valve |
|
Lethargy, Retrognathia |
ORPHA:93110 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the ante... |
ORPHA:449563 |
Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hydrocephalus, Orofacial cleft, Bifid thoracic vertebrae, Foot polydactyly, Short palm |
ORPHA:268249 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Orofacial cleft, Weight loss |
ORPHA:92050 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Scoliosis, Clinodactyly of the... |
ORPHA:457284 |
Chikungunya |
|
Diminished motivation, Periostitis, Cervical lymphadenopathy, Osteolysis, Lymphadenopathy, Depres... |
ORPHA:324625 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Micrognathia, Kyphosis, High palate, Short philtrum, Radial deviation of finger, Malar flattening... |
OMIM:609944 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly |
OMIM:614195 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus |
OMIM:312190 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Cholera |
|
Lethargy |
ORPHA:173 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Cleft ... |
OMIM:609192 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Hypoplastic sweat glands, Short philtrum, Cleft palate |
OMIM:617337 |
African Trypanosomiasis |
|
Hepatomegaly, Abnormality of the endocrine system, Splenomegaly, Jaundice, Myelopathy, Hepatosple... |
ORPHA:3385 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hydrocephalus, Lymphadenopathy |
ORPHA:538 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... |
ORPHA:1112 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Precocious puberty, Kyphosis, Delayed puberty, Osteoporosis, Oste... |
ORPHA:97685 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis |
OMIM:619909 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Flexion contracture of finger, Scoliosis, Camptodactyly |
ORPHA:88628 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy |
ORPHA:199241 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Hip contracture, Craniosynostosis, Abnormality of the dentition, Kyphosi... |
ORPHA:821 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Oral leukoplakia, Pancreatitis |
ORPHA:342 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth... |
ORPHA:1780 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Clubbing, Weight loss |
ORPHA:79127 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Parotitis, Orchitis, Splenomegaly, ... |
ORPHA:99827 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Abnormality of the dentition, Adrenocortical carcinoma, Supernumerary t... |
ORPHA:79665 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Tongue atrophy, Tongue fasciculations, Scoliosis |
OMIM:211530 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormality of the tongue, Weight loss |
ORPHA:216866 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Brachydactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognath... |
OMIM:610168 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Nocardiosis |
|
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Abnormality o... |
ORPHA:31204 |
Kufor-Rakeb Syndrome |
|
Abnormal finger morphology, Bradykinesia, Apathy, Difficulty in tongue movements, Lethargy |
ORPHA:306674 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Orofacial cleft, High palate, Clinodactyly of the 5th finger, Hypothyroidism, Bifid uvula, Cleft ... |
OMIM:607872 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... |
ORPHA:158687 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Spina bifida, Micrognathia, Kyphosis, Myelomeningocele, Meningocele, Cleft palat... |
ORPHA:1393 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Short hallux, Micrognathia, Aq... |
OMIM:620305 |
Polymyositis |
|
Hepatomegaly, Weight loss |
ORPHA:732 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Weight loss, Granulomatosis, Abnormal oral cavity morphology, Abnormality of the hypot... |
ORPHA:900 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Failure to thrive, Overweight, High, narrow palate, Hydrocephalus, Lateral ventricle dilatation, ... |
OMIM:619575 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Retrognathia, Dandy-Walker malformation, Ventriculomegaly, Adducted... |
OMIM:614643 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis, Osteoporosis,... |
OMIM:304150 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S... |
OMIM:614188 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Interphalangeal joint erosions, Weight loss |
OMIM:180300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, High, narrow palate, Hydrocephalus, Hepatic calcification, Hepatic steatosis, Ventr... |
ORPHA:228308 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Apathy |
ORPHA:97339 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Hypothyroid... |
OMIM:606170 |
Peters Plus Syndrome |
|
Short neck, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Spina bifida occul... |
ORPHA:709 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Downturned corners of mouth, Craniosynostosis, Micrognathia |
ORPHA:1064 |
Knobloch Syndrome |
|
Lymphangioma, Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Micrognathia, Cleft upper lip, Meningoencephalocele, C... |
OMIM:236670 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Ovarian neoplasm, Macroglossia, Hand polydactyly, Neoplasm of the thyroid gland |
ORPHA:65285 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Ciliary Dyskinesia, Primary, 43 |
|
Chronic sinusitis, Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Tracheobronchopathia Osteochondroplastica |
|
Calcification of cartilage |
ORPHA:3348 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Eruption failure, Odontoma, Small i... |
OMIM:175100 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Hemangioblastoma |
|
Hydrocephalus |
ORPHA:252054 |
Yao Syndrome |
|
Oral ulcer, Weight loss |
OMIM:617321 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, Abnormality of the lymphatic system |
ORPHA:137667 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Natal tooth, Camptodactyly of finger, Micrognathia, Aplasia/... |
ORPHA:1662 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Dandy-Walker malformation, Ventric... |
OMIM:217090 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Abnormal metaphysis morphology |
ORPHA:1861 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Noncommunicating hydrocep... |
ORPHA:805 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Hip subluxation, Short thumb, Slender finger, Cryptorchidism, Velopharyngeal insuff... |
OMIM:619325 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis |
ORPHA:29207 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis |
ORPHA:88644 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly |
OMIM:615219 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Lumbar hyperlordosis, Dental crowding, Down-sloping shoulders, Kyphoscoliosis, Cleft ... |
OMIM:309800 |
Familial Gestational Hyperthyroidism |
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Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Tented upper lip vermilion, Short neck, Micrognathia, Camptodactyly o... |
OMIM:601803 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, High palate, High, narrow palate, Scoliosis |
OMIM:177850 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:276621 |
Ameloonychohypohidrotic Syndrome |
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Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Holoprosencephaly 14 |
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Ventriculomegaly, Median cleft lip, Alobar holoprosencephaly, Aqueductal stenosis, Cleft lip, Hyd... |
OMIM:619895 |
Microphthalmia With Linear Skin Defects Syndrome |
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Sacral dimple, Abnormal dental enamel morphology, Micrognathia, Hydrocephalus, Retrognathia, Mand... |
ORPHA:2556 |
Blau Syndrome |
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Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal saliva... |
ORPHA:90340 |
Fraser Syndrome 3 |
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Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth |
OMIM:617667 |
Acrodermatitis Enteropathica |
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Cheilitis, Abnormality of the tongue, Furrowed tongue, Weight loss, Failure to thrive, Glossitis |
ORPHA:37 |
Papilloma Of Choroid Plexus |
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Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Gerstmann-Straussler Disease |
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Bradykinesia, Depression, Weight loss |
OMIM:137440 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Weight loss |
ORPHA:103910 |
Cap Polyposis |
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Weight loss |
ORPHA:160148 |
Viss Syndrome |
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Micrognathia, High, narrow palate, High palate, Broad uvula, Hypothyroidism, Bifid uvula, Long to... |
OMIM:619472 |
Sturge-Weber Syndrome |
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Hyperostosis, Hydrocephalus, Gingival overgrowth |
ORPHA:3205 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Hepatomegaly, Hydrocephalus, Hepatic calcification |
ORPHA:157 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Downturned corners ... |
ORPHA:99885 |
Hydrocephalus, Normal-Pressure, 1 |
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Normal pressure hydrocephalus |
OMIM:236690 |
Isotretinoin Embryopathy-Like Syndrome |
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Hydrocephalus, Cleft palate, Micrognathia |
OMIM:243440 |
Hereditary Late-Onset Parkinson Disease |
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Bradykinesia, Depression, Apathy, Weight loss |
ORPHA:411602 |
Specc1L-Related Hypertelorism Syndrome |
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Finger syndactyly, Cryptorchidism, Short toe, Orofacial cleft, Thin vermilion border, Everted low... |
ORPHA:1519 |
Cerebral Visual Impairment |
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Hydrocephalus |
ORPHA:447788 |
Liposarcoma |
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Weight loss |
ORPHA:69078 |
Enamel-Renal Syndrome |
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Increased circulating osteocalcin level, Delayed eruption of teeth, Abnormality of dental color, ... |
ORPHA:1031 |
Arachnoiditis |
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Hydrocephalus |
ORPHA:137817 |
Townes-Brocks Syndrome 1 |
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2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Small for gestational age, 1-2 toe s... |
OMIM:107480 |
Encephalocraniocutaneous Lipomatosis |
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Cryptorchidism, Hydrocephalus, Dandy-Walker malformation |
OMIM:613001 |
Alkaptonuria |
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Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Ventriculomegaly With Cystic Kidney Disease |
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Hydrocephalus, Ventriculomegaly, Postaxial polydactyly |
OMIM:219730 |
Bladder Exstrophy And Epispadias Complex |
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Abnormal pelvic girdle bone morphology |
OMIM:600057 |
Alström Syndrome |
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Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... |
ORPHA:64 |
Malignant Atrophic Papulosis |
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Peritonitis, Weight loss |
ORPHA:679 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormal dental enamel morphology, Kyph... |
ORPHA:2273 |
Hydrocephalus, Congenital, 4 |
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Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Hereditary Pheochromocytoma-Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:29072 |
Isolated Posterior Meningocele |
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Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... |
ORPHA:268810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
Pachyonychia Congenita 2 |
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Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Hydrocephalus, Congenital, 5, Susceptibility To |
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Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Thin upper lip vermilion, Scoliosis |
OMIM:613454 |
Hec Syndrome |
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Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
Oeis Complex |
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Absence of the sacrum, Congenital hip dislocation, Cryptorchidism, Myelomeningocele, Sacral segme... |
OMIM:258040 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure of eruption of p... |
ORPHA:2250 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Pulmonary Alveolar Microlithiasis |
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Hepatomegaly, Weight loss, Clubbing of fingers, Stippled calcification in carpal bones, Testicula... |
ORPHA:60025 |
Dermatomyositis |
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Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Amelogenesis Imperfecta, Type Ig |
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Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Hydrocephalus, Ventriculomegaly |
OMIM:616538 |
Fatal Familial Insomnia |
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Weight loss |
OMIM:600072 |
Glucose-Galactose Malabsorption |
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Failure to thrive, Weight loss |
ORPHA:35710 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Increa... |
ORPHA:90794 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Depression, Weight loss |
OMIM:607459 |
Basal Cell Nevus Syndrome 2 |
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Hydrocephalus |
OMIM:620343 |
Acquired Central Diabetes Insipidus |
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Diabetes insipidus, Weight loss |
ORPHA:95626 |
Pineoblastoma |
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Lethargy, Pinealoma |
ORPHA:251909 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
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Communicating hydrocephalus |
OMIM:600559 |
Odontomicronychial Dysplasia |
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Premature eruption of permanent teeth |
OMIM:601319 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis, Cleft palate, Cleft upper lip, Micrognathia |
OMIM:153400 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Clubbing, Weight loss |
ORPHA:747 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules |
ORPHA:25 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper li... |
OMIM:164210 |
Leptospirosis |
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Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia |
ORPHA:509 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss |
OMIM:605543 |
Scalp-Ear-Nipple Syndrome |
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Type I diabetes mellitus, Abnormality of the dentition, Breast aplasia, Delayed eruption of teeth |
ORPHA:2036 |
Hypoplasminogenemia |
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Hydrocephalus, Gingival overgrowth, Gingivitis, Periodontitis, Abnormality of the ovary, Dandy-Wa... |
ORPHA:722 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
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Communicating hydrocephalus |
ORPHA:2184 |
Thyrotoxic Periodic Paralysis |
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Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Adenocarcinoma Of The Anal Canal |
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Neoplasm of the liver, Lymphadenopathy |
ORPHA:424016 |
Glycine Encephalopathy |
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Lethargy |
ORPHA:407 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Normochromic anemia, Reduced hematocrit, Weight loss |
ORPHA:91500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Failure to thrive, Weight loss |
ORPHA:1018 |
Postinfectious Vasculitis |
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Orchitis, Viral hepatitis, Weight loss |
ORPHA:48435 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cleft palate, Hydrocephalus, Colpocephaly |
OMIM:309801 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Supernumerary nipple, Cryptorchidism, Submucous cleft hard palate, Cle... |
OMIM:235730 |
Thoracoabdominal Syndrome |
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Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:313850 |
Chronic Graft Versus Host Disease |
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Pancytopenia, Weight loss |
ORPHA:99921 |
Juvenile Dermatomyositis |
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Weight loss |
ORPHA:93672 |
Carney-Stratakis Syndrome |
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Paraganglioma, Weight loss |
ORPHA:97286 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Hydrocephalus |
OMIM:175780 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Macroglossia, Hydrocephalus |
OMIM:261740 |
Goodpasture Syndrome |
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Anemia, Weight loss |
OMIM:233450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Micrognathia, Hydrocephalus, Everted lower lip vermilion, Malar flattening, Ventriculomegaly |
OMIM:253280 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis |
ORPHA:171629 |
Oculopharyngodistal Myopathy 1 |
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High palate, Weight loss |
OMIM:164310 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus |
ORPHA:637 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Osteomalacia, Weight loss |
ORPHA:3337 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Exstrophy-Epispadias Complex |
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Cryptorchidism, Hydrocephalus, Spina bifida |
ORPHA:322 |