Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Pathologic fracture, Multiple enchondromatosis |
OMIM:614569 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Osteosarcoma |
OMIM:167250 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Oslam Syndrome |
|
Radioulnar synostosis, Neoplasm, Osteosarcoma |
OMIM:165660 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Premature Aging Syndrome, Okamoto Type |
|
Neoplasm, Osteoporosis, Osteosarcoma |
OMIM:601811 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Oslam Syndrome |
|
Radioulnar synostosis, Osteosarcoma |
ORPHA:2760 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac... |
ORPHA:3314 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Fractures of the long bones, Hi... |
OMIM:112250 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... |
ORPHA:1453 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Brachydactyly, Type A1 |
|
Short proximal phalanx of thumb, Radial deviation of the 3rd finger, Radial deviation of the 4th ... |
OMIM:112500 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Burkitt lymphoma, Kn... |
OMIM:620232 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Fibrous dysplasia of the bones, Neuro... |
ORPHA:352540 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi... |
ORPHA:2370 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... |
ORPHA:3246 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Short stature, Broad thumb, Short ... |
ORPHA:1471 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short stature, Short middle phalanx of the 2nd finger, Short middle phalanx of the... |
OMIM:615072 |
Milroy Disease |
|
Hydrocele testis, Neoplasm of the skin, Angiosarcoma |
ORPHA:79452 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Multiple Synostoses Syndrome |
|
Bilateral single transverse palmar creases, Joint stiffness, Symphalangism affecting the phalange... |
ORPHA:3237 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Recurrent fractures, Hemangiomatosis... |
ORPHA:163634 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Cra... |
OMIM:614732 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Tetrasomy X |
|
Premature ovarian insufficiency, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Cl... |
ORPHA:9 |
Dentin Dysplasia |
|
Increased bone mineral density, Exostoses |
ORPHA:1653 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro... |
OMIM:609052 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S... |
ORPHA:93384 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Broad nasal tip, Micrognathia, De... |
ORPHA:166016 |
Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit... |
OMIM:226900 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Brachydactyly, Type A2, With Microcephaly |
|
Diabetes mellitus, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypop... |
OMIM:211369 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, L... |
OMIM:118651 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... |
OMIM:614078 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Anteverted nares, Joint stiffness, Bulbous nose, Small ha... |
ORPHA:969 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... |
OMIM:618618 |
Brachydactyly, Type A1, B |
|
Short stature, Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short mi... |
OMIM:607004 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Werner Syndrome |
|
Reduced bone mineral density, Osteoporosis, Meningioma, Osteosarcoma |
OMIM:277700 |
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 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... |
OMIM:300604 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno... |
ORPHA:2639 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis, Arthralgia of the hip, ... |
ORPHA:166002 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Laron Syndrome |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Short long bone, Limb undergr... |
OMIM:262500 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Delayed puberty, Clinodactyly of the ... |
ORPHA:217340 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ... |
ORPHA:1240 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma |
ORPHA:66661 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Convex nasal ridge, Brachydactyly |
ORPHA:1277 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Hypochondroplasia |
|
Brachydactyly, Depressed nasal bridge, Aplasia/hypoplasia of the extremities, Flared metaphysis, ... |
OMIM:146000 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Prominent nasal brid... |
ORPHA:3409 |
Acrocephalopolydactyly |
|
Abnormal renal morphology, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, ... |
ORPHA:221054 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose |
OMIM:300577 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Liebenberg Syndrome |
|
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... |
OMIM:186550 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Testicular neoplasm, Elevated circulating growth hormone concentr... |
ORPHA:249 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Joint stiffness, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Disproportionate short stature... |
ORPHA:40 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
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Osteopenia, Hip contracture, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Hyperechog... |
OMIM:616809 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone... |
OMIM:618961 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
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Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer |
ORPHA:145 |
Lethal Recessive Chondrodysplasia |
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Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility |
OMIM:264110 |
Terminal Osseous Dysplasia |
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Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Astley-Kendall Dysplasia |
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Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia |
ORPHA:85175 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
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Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
Large Congenital Melanocytic Nevus |
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Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Liposarcoma |
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Sarcoma |
ORPHA:69078 |
Greenberg Dysplasia |
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Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Desbuquois Dysplasia 1 |
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Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Increased bone mineral density, Short stature, Abnormal limb bone morphology, Abnormality of the ... |
ORPHA:2204 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short metacarpal, Diabetes mellitus, Hypospadias, Anteverted nares, Depressed nasal bridge, Crypt... |
OMIM:614613 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Short stature, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral ... |
OMIM:618392 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Hypogonadism, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Odontochondrodysplasia 1 |
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Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
Boomerang Dysplasia |
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Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Brachydactylous Dwarfism, Mseleni Type |
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Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to... |
ORPHA:2619 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, S... |
OMIM:302950 |
Eng-Strom Syndrome |
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Short stature, Camptodactyly of finger, Arthritis, Intrauterine growth retardation, Brachydactyly |
ORPHA:1937 |
Arthrogryposis, Distal, Type 2B2 |
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Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed... |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... |
ORPHA:93351 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Spermatogenic Failure 9 |
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Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
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Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
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Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
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Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
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Male infertility, Globozoospermia |
OMIM:619799 |
Angioosteohypotrophic Syndrome |
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Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Hypochondroplasia |
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Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Rhabdoid Tumor |
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Renal neoplasm, Neoplasm of the central nervous system, Hypertension, Neoplasm of the liver, Inte... |
ORPHA:69077 |
Acrodysostosis |
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Micromelia, Short metatarsal, Depressed nasal ridge, Hypoplasia of the ulna, Short metacarpal, An... |
ORPHA:950 |
Rhizomelic Syndrome, Urbach Type |
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Depressed nasal bridge, Short stature, Rhizomelia, Micrognathia, Abnormality of the humerus, Prea... |
ORPHA:3098 |
Autosomal Recessive Omodysplasia |
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Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Rh... |
ORPHA:93329 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro... |
OMIM:609616 |
Pseudoachondroplasia |
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Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... |
OMIM:177170 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Brachydactyly, Short stature, Single transverse palmar crease, Bifid distal phalanx of the thumb,... |
ORPHA:370010 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Calcium nephrolithiasis, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Decreased circ... |
OMIM:241530 |
Orofaciodigital Syndrome Xviii |
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Sandal gap, Urinary incontinence, Postaxial polydactyly, Prominent nasal bridge, Short stature, S... |
OMIM:617927 |
Rhizomelic Chondrodysplasia Punctata |
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Short stature, Rhizomelia, Limitation of joint mobility, Growth delay, Epiphyseal stippling, Abno... |
ORPHA:177 |
Symphalangism, Distal |
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Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathi... |
ORPHA:163649 |
Pseudopseudohypoparathyroidism |
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Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short... |
ORPHA:79445 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
Tetralogy Of Fallot |
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Abnormal nasal morphology, Cryptorchidism, Clinodactyly of the 5th finger, Intrauterine growth re... |
ORPHA:3303 |
Jeune Syndrome |
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Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Posta... |
ORPHA:474 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Diabetes Insipidus, Neurohypophyseal |
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Osteopenia, Wide nose, Decreased circulating osteocalcin level, Short nose, Central diabetes insi... |
OMIM:125700 |
Diastrophic Dysplasia |
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Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... |
OMIM:222600 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Hypoplasia of the ulna, Broad hallux, Disproportionate short stature, Short metatarsal, Limited e... |
ORPHA:1856 |
Chromosome 20Q11-Q12 Deletion Syndrome |
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Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Intrauterine growth retard... |
OMIM:614257 |
Infantile Myofibromatosis |
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Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
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Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Bardet-Biedl Syndrome 18 |
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Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:615995 |
Ring Chromosome 8 Syndrome |
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Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis |
ORPHA:1450 |
Brachydactyly Type A2 |
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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Multiple Epiphyseal Dysplasia Type 4 |
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Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Feingold Syndrome Type 2 |
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Toe syndactyly, Short stature, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Diastrophic Dysplasia |
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Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
Smith-Magenis syndrome |
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Short stature, Brachydactyly |
DECIPHER:8 |
Meige Disease |
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Angiosarcoma |
ORPHA:90186 |
Ruvalcaba Syndrome |
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Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... |
ORPHA:3121 |
Trichorhinophalangeal Syndrome, Type Iii |
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Osteopenia, Short metacarpal, Short stature, Underdeveloped nasal alae, Avascular necrosis of the... |
OMIM:190351 |
Metatropic Dysplasia |
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Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho... |
ORPHA:2635 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
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Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
Summitt Syndrome |
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Finger syndactyly, Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ridge, G... |
ORPHA:3210 |
Hypertension And Brachydactyly Syndrome |
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Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac... |
OMIM:112410 |
Craniosynostosis, Herrmann-Opitz Type |
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Finger syndactyly, Short stature, Craniosynostosis, Abnormality of the upper urinary tract, Abnor... |
ORPHA:2145 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Wide nose, Iliac crest serration, Anteverted nares, Depressed nasal bridge, Short stature, Wide d... |
OMIM:613320 |
Short Stature, Dauber-Argente Type |
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Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Coloboma Of Macula With Type B Brachydactyly |
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Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,... |
OMIM:120400 |
Roifman Syndrome |
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Narrow nasal bridge, Hip contracture, Epiphyseal dysplasia, Short stature, Hypogonadotropic hypog... |
ORPHA:353298 |
Rhyns Syndrome |
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Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo... |
OMIM:602152 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
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Type A1 brachydactyly |
OMIM:188201 |
Cranioectodermal Dysplasia |
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Finger syndactyly, Brachydactyly, Anteverted nares, Rhizomelia, Craniosynostosis, Osteoporosis, J... |
ORPHA:1515 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat... |
ORPHA:2928 |
Peripheral Dysostosis |
|
Short stature, Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han... |
ORPHA:1795 |
Image Syndrome |
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Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Micromelia, Crypt... |
ORPHA:85173 |
Dent Disease |
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Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Finger clinodactyly, Camptodactyly, Intrauterine growth retardation, Adducted thumb |
ORPHA:444051 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi... |
ORPHA:2741 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nose, Osteoporosis, In... |
OMIM:234250 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... |
ORPHA:83469 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Osteoarthritis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal acetabu... |
ORPHA:166011 |
Achondroplasia |
|
Anteverted nares, Depressed nasal bridge, Rhizomelia, Hip joint hypermobility, Bowing of the legs... |
ORPHA:15 |
Keipert Syndrome |
|
Joint laxity, Wide nose, Broad hallux, Prominent nose, Broad distal phalanx of finger, Camptodact... |
OMIM:301026 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... |
OMIM:611717 |
Odontochondrodysplasia |
|
Bowing of the long bones, Depressed nasal bridge, Short stature, Micromelia, Coxa valga, Cone-sha... |
ORPHA:166272 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Anteverted nares, Bulbous nose, Cone-shaped epiphysis, Sh... |
OMIM:102370 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Depressed nasal bridge, Short stature, Short toe, Short metatarsal, Osteoporosi... |
OMIM:103580 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Short stature, Micrognathia, Cryptorchidism, Wide nasal bridge, Short middle phalanx... |
OMIM:612626 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Short stature, Craniosynostosis, Broad nasal tip, Hip dislocation, Genu... |
OMIM:619451 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Infertility |
OMIM:240950 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Tapered finger, Join... |
ORPHA:2746 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ... |
ORPHA:93296 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia |
ORPHA:314478 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Emery-Nelson Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... |
ORPHA:1927 |
Ruvalcaba Syndrome |
|
Short metacarpal, Short stature, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Limited e... |
OMIM:180870 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Depressed nasal bridge, Broad hallux, Short stature, Short thumb, Premature osteoarthritis, Hip o... |
OMIM:165800 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Craniosynostosis 3 |
|
Hallux valgus, Right unicoronal synostosis, Single transverse palmar crease, Sagittal craniosynos... |
OMIM:615314 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Depressed nasal bridge, Short stature, Short metatarsal, Osteoporosis, Pseudohy... |
OMIM:612463 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... |
ORPHA:2631 |
Cornelia De Lange Syndrome 2 |
|
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Short stature, Postnatal g... |
OMIM:300590 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nose, Micrognathia, Short metatarsal, Elevated circulating parathyroid hormone level, B... |
ORPHA:439822 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... |
ORPHA:2831 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Myelodysplasia, Cryptorchidism, Lymphoma, Finger... |
ORPHA:221016 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Short stature, Bowing of the legs, Secondary amenorrhea, Lower limb undergrow... |
OMIM:612847 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:264700 |
Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathi... |
ORPHA:93298 |
Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv... |
ORPHA:1803 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Coxoauricular Syndrome |
|
Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi... |
ORPHA:1508 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Myelodysplasia, Cryptorchidism, Finger symphalan... |
ORPHA:221008 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Epiphyseal stippling, Intrauterine gro... |
ORPHA:1914 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia,... |
OMIM:151210 |
Achondrogenesis Type 1A |
|
Severe short stature, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral ossi... |
ORPHA:93299 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Depressed nasal bridge, Short stature, Elevated circulating thyroid-stimulating... |
OMIM:612462 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... |
OMIM:215045 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... |
OMIM:608940 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around... |
OMIM:256050 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L... |
ORPHA:156728 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Severe short stature, Hypoplasia of the odontoid proce... |
OMIM:184250 |
Werner Syndrome |
|
Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neopl... |
ORPHA:902 |
Brachydactyly Type E |
|
Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short me... |
ORPHA:93387 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circ... |
OMIM:101800 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Short stature, Brachydactyly |
ORPHA:1276 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Antevert... |
ORPHA:171839 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Hip dysplasia, Flexion contracture, Short nose |
OMIM:618379 |
Leri Pleonosteosis |
|
Severe short stature, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finge... |
ORPHA:2900 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology, Proportionate short stature, Micromelia |
ORPHA:93283 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, Bra... |
OMIM:615982 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Hodgkin lymphoma, Breast carcinoma, Ova... |
ORPHA:157798 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Narrow nasal bridge, Severe short stature, Sandal gap, Anteverted nares, Cryptorchidi... |
ORPHA:3051 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Hypospadias, Prominent nasal bridge, Tapered finger, Micrognathia, L... |
OMIM:618659 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h... |
ORPHA:2019 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Brachydactyly, Severe short stature, Bilateral single transverse palmar crea... |
ORPHA:2511 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Short stature, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:3156 |
Alopecia-Intellectual Disability Syndrome |
|
Short stature, Hypergonadotropic hypogonadism, Abnormal nasal morphology, Split hand, Flexion con... |
ORPHA:2850 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Hand-Foot-Genital Syndrome |
|
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,... |
OMIM:140000 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Anteverted nares, Short stature, Single transverse palmar crea... |
OMIM:616651 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Short stature, Coxa valga, Cubitus valgus,... |
OMIM:617396 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact... |
OMIM:210720 |
Laron Syndrome |
|
Hypoplastic nasal bridge, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Severe shor... |
ORPHA:633 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Pulmonary arterial hypert... |
ORPHA:662 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Short stature, Osteolysis involving bones of the upper limbs, Flexion contracture, Os... |
ORPHA:88630 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short... |
OMIM:617102 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormal nasopharynx morphology, Depressed nasal bridge, Hypogonadotro... |
OMIM:157900 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Osteoglosphonic Dysplasia |
|
Severe short stature, Anteverted nares, Choanal atresia, Craniosynostosis, Rhizomelia, Micrognath... |
ORPHA:2645 |
Phenobarbital Embryopathy |
|
Abnormal nasal base norphology, Hypospadias, Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short... |
ORPHA:163654 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Feingold Syndrome 2 |
|
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... |
OMIM:614326 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, W... |
ORPHA:2863 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathia, Cryptorchi... |
ORPHA:1988 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Micromelia, Joint stiffness, Missing ribs, Micrognathia, Disproportiona... |
ORPHA:1801 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Short stature, Reduced bone mineral density, Slender long bone, Joint hyperflex... |
ORPHA:1185 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Hydroureter, Anteverted nares, Depressed nasal brid... |
ORPHA:1458 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger |
OMIM:155050 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Hypospadias, Anteverted nares, Decreased fibular diame... |
OMIM:616897 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossificatio... |
OMIM:618265 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Co... |
ORPHA:63446 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Polydactyly, Intrauterine growth retardation... |
OMIM:616910 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... |
ORPHA:2633 |
Pierpont Syndrome |
|
Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Short toe, Broad palm, Short foot, Dee... |
OMIM:602342 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Metatarsus adductus, Avascul... |
ORPHA:2557 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Short stature, Single transverse palmar crease, Micrognathia, Bulbous nose, Wid... |
OMIM:613604 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Short stature, Short iliac bones, Rhizomelia, Metaphyseal wideni... |
OMIM:614376 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Short stature, Bilateral single tran... |
ORPHA:2377 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Severe short stature, C... |
OMIM:156400 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Joint hyperflexibility, Abno... |
ORPHA:1695 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Short stature, Micromelia, Micrognathia, Postaxial hand p... |
OMIM:241800 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Diabetes mellitus, Hypoplastic sacrum, P... |
OMIM:614813 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Anteverted nares, Rhizomelia, Micromelia, Abnormality of the hand, Abnorma... |
ORPHA:1842 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Short sta... |
OMIM:211750 |
Miller-Dieker Syndrome |
|
Anteverted nares, Growth delay, Clinodactyly of the 5th finger, Nephropathy, Short nose |
ORPHA:531 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ... |
ORPHA:2249 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Prominent nose, Wide nasal bridge, Brachydactyly |
OMIM:617169 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel... |
OMIM:617604 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Short palm |
ORPHA:168555 |
Lowry-Wood Syndrome |
|
Short stature, Prominent nose, Squared iliac bones, Hip dislocation, Limited elbow extension, Elb... |
OMIM:226960 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Osteoporosis, Squamous cell carcinoma, Basal cell carcinoma, Annular pancreas, Os... |
OMIM:268400 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p... |
OMIM:614524 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met... |
ORPHA:1406 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Hall-Riggs Syndrome |
|
Anteverted nares, Short stature, Prominent nose, Joint stiffness, Wide nasal bridge, Abnormal epi... |
ORPHA:2107 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Small hand, Wide nasal bridge, Micropenis, Broad finger, Clinodactyly, Short phal... |
OMIM:614684 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Hip dysplasia, Clinodactyly of th... |
OMIM:617991 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... |
OMIM:166210 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal f... |
ORPHA:1836 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... |
ORPHA:1514 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetab... |
OMIM:617405 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Unilambdoid synosto... |
OMIM:618577 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Wide n... |
OMIM:136760 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Anteverted nares, Arachnodactyly, Short stature, Micromelia, Abnormality of the urete... |
ORPHA:1035 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Reduced bone mineral density, Genu valgum, Hypogonadism, Short nose, Spina b... |
ORPHA:2983 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Depressed nasal bridge, C... |
OMIM:616723 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... |
OMIM:305400 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Abnormality of the kidney, Micromelia, Joint stiffness, Abnormal sacroili... |
ORPHA:2655 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Cryptorchidism, Postaxial hand p... |
ORPHA:65759 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Coxa vara, Genu varum, Anteverted nares, Depressed nasal bridge... |
OMIM:271510 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Ectopic kidney, Sho... |
ORPHA:401935 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Vesicoureteral reflux... |
OMIM:244600 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Short stature, Coronal hypospadias, Short toe, Cryptorchidism, Abnor... |
ORPHA:921 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Short stature, Micrognathia |
ORPHA:2015 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Bilateral single transverse palmar creases, Micrognathia, Small hand, Sho... |
ORPHA:444002 |
Temtamy Syndrome |
|
Micrognathia, Short toe, Genu varum, Joint hyperflexibility, Clinodactyly of the 5th finger, Conv... |
ORPHA:1777 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, Depressed nas... |
OMIM:620073 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint laxity, Microretrognathia, Scapular winging, Anteverted nares, Monkey wrench femoral neck, ... |
OMIM:618870 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Severe short stature, Depressed nasal bridge, Joint hypermobility, Hip subluxat... |
OMIM:618853 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Brachydactyly, Hypogonadotropic hypogonadism, Joint stiffness, Anosmia, Genu... |
ORPHA:1295 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislo... |
ORPHA:93328 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Bowing of the legs, Delayed epiphyseal ossification, Metaphys... |
ORPHA:93352 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Absent nasal bridge, Short f... |
OMIM:612813 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Micrognath... |
OMIM:600325 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose |
ORPHA:261120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Sandal gap, Hypospadias, Depressed nasal bridge, Short stature, Cryptorchidism, Bul... |
OMIM:300354 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, ... |
ORPHA:1716 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones... |
OMIM:620269 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Short stature, Abnormal nasal morphology, Abnormality of the ureter, A... |
ORPHA:1133 |
Diamond-Blackfan Anemia 21 |
|
Osteosarcoma |
OMIM:620072 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... |
OMIM:151200 |
Achondrogenesis |
|
Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathi... |
ORPHA:932 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbous... |
OMIM:236500 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... |
OMIM:201000 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymo... |
OMIM:613254 |
Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Severe short stature, Rhizomelia, Hypoplastic ilia, Short toe, Fla... |
OMIM:607095 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Acrofrontofacionasal Dysostosis |
|
Hypospadias, Camptodactyly of finger, Short stature, Broad nasal tip, Micromelia, Abnormal epiphy... |
ORPHA:1784 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Mild postnatal growth retardation, Proximal femo... |
ORPHA:168549 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anteverted nares, Depressed nasal bridge, Short stature, Broad nasal tip, Hypoplasia of the odont... |
OMIM:300232 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Hypospadias, Depressed nasal bridge, Proximal placement of thumb, Prominent nasal b... |
ORPHA:94065 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Renal agenesis, Anteverted nares, Short stature, Broad nasal tip,... |
OMIM:615583 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th finger, Short... |
ORPHA:217385 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... |
ORPHA:56304 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... |
ORPHA:93346 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi... |
OMIM:616007 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Trichorhinophalangeal Syndrome Type 2 |
|
Recurrent urinary tract infections, Short stature, Bilateral single transverse palmar creases, Av... |
ORPHA:502 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Abnormality of the kidney, Microme... |
ORPHA:1860 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Camptodactyly of finger, Micrognathia, Growth delay, Intrauterine growth retardati... |
ORPHA:1495 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Ulnar deviation of t... |
OMIM:618162 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Short toe, Hyperinsulinemia, Secon... |
ORPHA:3085 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Short stature, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of... |
ORPHA:163966 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Short stature, Mic... |
ORPHA:1798 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi... |
OMIM:200600 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Short stature, Micromelia, Postaxial hand polydactyly, Split ... |
ORPHA:2491 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Severe short stature, Bifid nasal tip, ... |
OMIM:616854 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Short stature, Hypospadias, Depressed nasal ridge, Short nose |
ORPHA:1355 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... |
OMIM:602557 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Bilateral single transverse palmar creases, Prominent nasal bridge, Camptoda... |
ORPHA:2083 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Limitation of joint mobil... |
ORPHA:79474 |
Satoyoshi Syndrome |
|
Short metacarpal, Short stature, Short metatarsal, Amenorrhea, Osteolytic defects of the phalange... |
OMIM:600705 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
Aicardi Syndrome |
|
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma |
OMIM:304050 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... |
OMIM:610017 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Depressed nasal bridge, Aplasia/H... |
ORPHA:2256 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Long nose, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplan... |
ORPHA:2824 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Fused cervical vertebrae, Short middle phalanx of finger, Type II diabetes mellitu... |
ORPHA:1436 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... |
ORPHA:3258 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depre... |
ORPHA:1327 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Hypospadias, Prominent nasal bridge, Convex nasal ridge, Prominent nos... |
OMIM:300978 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Osteoarthritis, Osteolysis,... |
ORPHA:1657 |
Larsen Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Short stature, Craniosynostosis, Cryptorchidism, Acces... |
ORPHA:503 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, 11 pairs of ribs, Sandal gap, Anteverted nares, Short stature, Short toe, Clinodactyl... |
OMIM:617877 |
Frank-Ter Haar Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Osteolysis, Wide nasal bridge, ... |
ORPHA:137834 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Broad nasal tip, Precocious puberty, Cryptorchidism, 2-3 toe syndactyl... |
ORPHA:3306 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptor... |
ORPHA:1865 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Single transverse palmar crease, Recurrent fractures, Postnatal growth retardation, B... |
ORPHA:2324 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Hypospadias, Prominent nasal bridge, Joint hypermobility, Joint stiffness, Long... |
OMIM:619184 |
Pheochromocytoma/Paraganglioma Syndrome 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow... |
OMIM:108720 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Down-sloping shoulders, Abnormality of the nose, Joint hyperflexibility, Clinodactyly of the 5th ... |
ORPHA:1390 |
Schaaf-Yang Syndrome |
|
Short stature, Rocker bottom foot, Tapered finger, Cryptorchidism, Flexion contracture, Small han... |
OMIM:615547 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Short stature, Hip dysplasia, Hypoplastic iliac wing, Short distal phalanx of finger |
ORPHA:1858 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Depressed nasal bridge, Hypospadias, Broad nasal tip, Wide anterior fontanel, Clinoda... |
OMIM:619736 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Short stature, Coxa valga, Micrognathia, Disproportionate sho... |
OMIM:618363 |
Three M Syndrome 1 |
|
Scapular winging, Hypospadias, Anteverted nares, Depressed nasal bridge, Short stature, Postnatal... |
OMIM:273750 |
Peho-Like Syndrome |
|
Short nose, Tapered finger |
OMIM:617507 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Anteverted nares, Broad nasal tip, Short stature, Micrognathia, Wide na... |
OMIM:618529 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Reduced bone miner... |
ORPHA:561 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r... |
ORPHA:1248 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Short stature, Brachydactyly |
OMIM:610023 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Joint hyperflexibility, Abnormal epiphysis morphology, Abnormal vertebral epiphys... |
ORPHA:90653 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Depressed nasal bridge, Down-sloping shoulders, Short stature, Tapered fing... |
ORPHA:1452 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Metap... |
OMIM:224400 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retardation, Prec... |
ORPHA:254531 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Single transverse palmar cre... |
OMIM:617425 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Decreased testicu... |
OMIM:146110 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Func... |
ORPHA:96148 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Micromelia, Micrognathia, ... |
OMIM:617866 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Increased bone mineral density, Anteverted nares, Apl... |
ORPHA:50945 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchid... |
OMIM:616331 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Short stature, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epi... |
ORPHA:1824 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... |
ORPHA:2616 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e... |
ORPHA:485 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Short stature, Rhizom... |
OMIM:616229 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Short stature, Camptodactyly of finger, Abnormality of the nose, Abnormality of th... |
ORPHA:1794 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Abnormality of the kidney, Short stature, Micromelia, Limitation of joint... |
ORPHA:93274 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Wide nose, Diabetes mellitus, Anteverted nares, Down-sloping shoulders, Proportiona... |
ORPHA:391408 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Hypospadias, Short stature, Postaxial... |
OMIM:614091 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Single transverse palmar crease, Broad nasal tip, R... |
ORPHA:391372 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D... |
OMIM:101600 |
Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Abnormality of the elbow, Disproportionate short-trunk short statur... |
ORPHA:263463 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C... |
OMIM:255800 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Short stature, Craniosynostosis, Underdeveloped nasal alae, Abno... |
ORPHA:166035 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal wide... |
ORPHA:93357 |
Ohdo Syndrome |
|
Joint laxity, Anteverted nares, Proteinuria, Depressed nasal bridge, Short stature, Micrognathia,... |
OMIM:249620 |
Pycnodysostosis |
|
Decreased response to growth hormone stimulation test, Prominent nose, Micrognathia, Generalized ... |
ORPHA:763 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Short stature, Brachydactyly |
OMIM:613382 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Depr... |
OMIM:618019 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of t... |
ORPHA:44890 |
Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho... |
ORPHA:93324 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Sandal gap, Anteverted nares, Clinodactyly, Short nose, Low hanging colum... |
OMIM:617752 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... |
ORPHA:93333 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Craniosynostosis, Bowing of the legs, Micromelia, Hypercalciuria, I... |
OMIM:241500 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, Ulnar deviation o... |
ORPHA:1895 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot |
OMIM:618506 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio... |
ORPHA:1422 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Short stature, Flexion contracture, Hyperextensible hand joints, Sho... |
OMIM:275900 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Prominent nose, Long nose, Micrognathia, Abnormal finger morphology, Shor... |
ORPHA:2636 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short stature, Short foot, Short palm, Mild short stature, Brachydactyly |
OMIM:618522 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Postnatal growth retardation, Wide anteri... |
OMIM:619135 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short stature, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Large tarsal bones, Short stature... |
OMIM:215150 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Hypertension, Optic nerve glioma, Pheochromocytoma, ... |
OMIM:162200 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Bulbous nose, Short stature, Brachydactyly |
OMIM:266265 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Short stature, Tapered finger, Patchy palmoplantar hyperkeratosis, Abnormal te... |
ORPHA:317 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Anteverted nares, Bulbous nose, Wide nasal base, Oligosacchariduria, Talipes equinovarus, Camptod... |
OMIM:616354 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Triangular sh... |
ORPHA:73230 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Brachydactyly |
OMIM:619692 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... |
OMIM:145001 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
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Fibroma, Mitral regurgitation, Hepatosplenomegaly |
OMIM:619750 |
Platyspondylic Dysplasia, Torrance Type |
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Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp... |
ORPHA:85166 |
Bent Bone Dysplasia Syndrome 1 |
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Bent long bone, Micrognathia, Hypoplastic pubic bone, Decreased calvarial ossification, Short cla... |
OMIM:614592 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Osteomalacia, Camptodactyly of finger, Micromelia, Recurrent fr... |
ORPHA:2176 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Hip dislocation, Wide nasal bridge, Nephrocalcinosis, Joint contractur... |
OMIM:618005 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Short ribs, Absent or minimally ossified vertebral bodies, Neonatal... |
OMIM:600972 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Underdeveloped nasal alae, Micrognathia, Wide anterior fontanel, Met... |
OMIM:263210 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Short stature, Postaxial hand polydactyly, Chronic kidney disease, Cone-shaped epiphyses of the p... |
OMIM:615630 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Pseudohypoparathyroidism, Type Ib |
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Short metacarpal, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Low u... |
OMIM:603233 |
Desbuquois Dysplasia 2 |
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Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, Genu varum, Joint... |
OMIM:615777 |
Distal Deletion 17Q |
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Aplasia/Hypoplasia of the thumb, Short stature, Micromelia, Abnormal thumb morphology, Small hand... |
ORPHA:1597 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow nasal ridge, Micrognathia, Insulin-resistant diabetes mellitus, Flexion contracture, Hyper... |
OMIM:608612 |
Rudiger Syndrome |
|
Depressed nasal bridge, Ureterovesical stenosis, Single transverse palmar crease, Flexion contrac... |
OMIM:268650 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Short stature, Prominent nose, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea... |
ORPHA:319675 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Short stature, Limited elbow move... |
OMIM:617809 |
Arthrogryposis, Distal, Type 2A |
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Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar deviation of the... |
OMIM:193700 |
Al-Raqad Syndrome |
|
Joint laxity, Short nose, Sandal gap, Brachydactyly |
OMIM:616459 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Microretrognathia, Severe short stature, Anteverted nares, Depressed nasa... |
OMIM:615789 |
Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular... |
OMIM:600002 |
Chitayat Syndrome |
|
Hallux valgus, Depressed nasal bridge, Anteverted nares, Short stature, Short columella, Tracheom... |
OMIM:617180 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger... |
ORPHA:251028 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Recurrent... |
ORPHA:3078 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short stature, Wide nasal bridge, Symphalangism affecting the p... |
ORPHA:710 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B... |
OMIM:600430 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma, Camptodactyly of toe, Camptodactyly |
OMIM:610474 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand... |
OMIM:268310 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly... |
ORPHA:210548 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar... |
OMIM:163400 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
Opsismodysplasia |
|
Short metacarpal, Anteverted nares, Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoi... |
OMIM:258480 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Joi... |
OMIM:231050 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Hypospadias, Short stature, Bilateral single transverse pal... |
ORPHA:1786 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Intrauterine growth re... |
ORPHA:1832 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Prominent nasal bridge, Wide nasal bridge, Cutaneous f... |
OMIM:148820 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro... |
OMIM:608747 |
Marinesco-Sjögren Syndrome |
|
Short palm, Severe short stature, Coxa valga, Avascular necrosis of the capital femoral epiphysis... |
ORPHA:559 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ... |
OMIM:164900 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Depressed nasal bridge,... |
ORPHA:79444 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ... |
OMIM:171480 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Anteverted nares, Choanal atresia, Rec... |
ORPHA:83 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c... |
ORPHA:485405 |
Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly |
OMIM:619751 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... |
OMIM:615986 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Short stature, Cryptorchidism, Abnormality of the elbow, Short nose, Brachydactyly |
ORPHA:2701 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Precocious puberty, Short distal phalanx of toe, Short nose, Bila... |
OMIM:619356 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Broad hallux, Anteverted nares, Depressed nasal bridge, S... |
OMIM:614105 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Anteverted nar... |
ORPHA:1001 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Chronic kidney disease, ... |
OMIM:208500 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Hypospadias, Anteverted nares, Short s... |
OMIM:611209 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, D... |
ORPHA:464288 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta... |
ORPHA:3219 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size |
OMIM:229070 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,... |
OMIM:613091 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ... |
OMIM:613870 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Absent nasal bridge, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Pycnodysostosis |
|
Increased bone mineral density, Short stature, Aplastic clavicle, Prominent nose, Micrognathia, A... |
OMIM:265800 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Short femur, Depressed nasal bridge, Rhizomelia, Bowing of the legs... |
OMIM:100800 |
Brachydactyly, Type E1 |
|
Short metacarpal, Moderately short stature, Short metatarsal, Short clavicles, Type E brachydacty... |
OMIM:113300 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Proteinuria, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Hematuri... |
ORPHA:1765 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Anteverted nares, Short stature, Broad nasal tip, Concave nasal ridge, Broad thumb, Broad distal ... |
OMIM:617763 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Craniosynostosis, Absent thumb, Shor... |
ORPHA:96097 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short st... |
ORPHA:2021 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Weill-Marchesani Syndrome |
|
Short thumb, Limitation of joint mobility, Short stature, Brachydactyly |
ORPHA:3449 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Acromesomelic Dysplasia 4 |
|
Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radial bowing, Short sta... |
OMIM:619636 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Prominent nose, Micrognathia, Tibial bowi... |
ORPHA:453510 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Short stature, Craniosynostosis, Underdeveloped nasal al... |
OMIM:250410 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh... |
OMIM:300106 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Convex nas... |
ORPHA:783 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Aplasia of the nasal bone, Prominent nasal bridge, Recurrent fractures, Micrognath... |
OMIM:601812 |
Coffin-Siris Syndrome 7 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Short stature, Cl... |
OMIM:618027 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Maturity-onset diabetes of th... |
ORPHA:96184 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Mohr Syndrome |
|
Syndactyly, Depressed nasal bridge, Short stature, Broad nasal tip, Bifid nasal tip, Preaxial han... |
OMIM:252100 |
Coffin-Siris Syndrome 2 |
|
Wide nose, Depressed nasal bridge, Sandal gap, Anteverted nares, Short stature, Cryptorchidism, I... |
OMIM:614607 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Broad nasal tip, Small hand, Wide nasal base, Broad columella, Depressed nasal tip, S... |
ORPHA:488434 |
Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Slender long bone, Micropenis, Decreased skull ossification, Br... |
OMIM:602361 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Joint hyperflexibi... |
ORPHA:776 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Multiple joint contractures, Hypospadias,... |
ORPHA:2959 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a... |
OMIM:618845 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Cam... |
OMIM:610015 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl... |
OMIM:613443 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Prominent nose, Underdeveloped nasal alae, Precocious puberty, Disproportionate short... |
ORPHA:2637 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Short stature, Single transverse palmar crease, Prominent nasal bridge, Broad nasal... |
OMIM:613544 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever... |
ORPHA:85167 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Growth del... |
OMIM:615716 |
Oculodentodigital Dysplasia |
|
Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger syndactyly, Anteverted nare... |
ORPHA:2710 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Short stature, Prominent fingertip pads, Short nose |
OMIM:300558 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Prominent nose, Joint stiffness, Abnormality of the elbo... |
ORPHA:1005 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Short stature |
ORPHA:1861 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Rocker bottom foot, Narrow nasal ridge... |
ORPHA:363528 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Sh... |
OMIM:618150 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Short stature, Broad nasal tip, Long nose, Wide nasal bridge, ... |
OMIM:619995 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Thick nasal alae, Proportionate short stature, Broad nasal tip, P... |
ORPHA:79345 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U... |
ORPHA:94068 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Single transverse palmar crease, Micrognathia, Postnatal growth retardation, Osteo... |
ORPHA:73272 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Anteverted nares, Depressed n... |
OMIM:615398 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Brachydactyly |
ORPHA:2956 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Short stature, Aplasia/H... |
ORPHA:2909 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Short phalanx of f... |
ORPHA:508533 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den... |
ORPHA:2911 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Wide anterior fontanel, Polydactyly, Clinodactyly, Bra... |
ORPHA:313781 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Wide nasal bridge, Increased carrying ang... |
OMIM:247410 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, Hypoplastic i... |
ORPHA:93315 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Meckel Syndrome, Type 8 |
|
Short nose, Depressed nasal ridge, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia,... |
OMIM:613885 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Short stature, Wide nasal bridge, Nephropathy, Hypothyro... |
ORPHA:1563 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Abnormal bone oss... |
ORPHA:175 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Postnatal growth retardation, Cryptorchidism, Joint contracture, Intr... |
OMIM:615419 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Wid... |
ORPHA:377 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Adenocarcinoma of the colon, Malignant genitourinary trac... |
ORPHA:124 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Renal hypoplasia/aplasia... |
ORPHA:819 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperflexibility, Dec... |
ORPHA:2772 |
Teebi Hypertelorism Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis, Short stature, Micrognathia,... |
OMIM:145420 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dyspl... |
ORPHA:544503 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Renal malrotation, Anteverted nares, Depressed nasal bridge, Short stature, Underdeveloped nasal ... |
OMIM:615866 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Growth delay, Short nose, Depressed nasal bridge, Short stature |
ORPHA:438178 |
Perlman Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, Hyperinsulinemia, Wide nasal... |
ORPHA:2849 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Short stature, Convex nasal ridge, Abnormal fingertip morpho... |
ORPHA:90154 |
Czech Dysplasia |
|
Osteochondroma, Flexion contracture, Limitation of joint mobility |
OMIM:609162 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Underdeveloped nasal alae, Broad columella, Brachydactyly |
ORPHA:436245 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Absent thumb, Aplasia/Hypoplasia of ... |
ORPHA:1234 |
Smith-Magenis Syndrome |
|
Short stature, Abnormality of the thyroid gland, Abnormal renal morphology, Wide nasal bridge, Br... |
OMIM:182290 |
Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Short stature, Brachydactyly |
OMIM:614819 |
Specific Granule Deficiency 2 |
|
Osteopenia, Sandal gap, Brachydactyly |
OMIM:617475 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Bone... |
ORPHA:1752 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ... |
ORPHA:93316 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Epispadias, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short ... |
ORPHA:2658 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... |
ORPHA:2756 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Short proximal phalanx of finger, Wide anterior fontanel, Cry... |
OMIM:616638 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Short metacarpal, Toe syndactyly, Short stature, Hyperthyroidism, Scapular winging,... |
OMIM:170390 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Anteverted nares, Rocker bottom foot, Proximal placement of thumb, Growth dela... |
OMIM:619762 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Depressed nasal bridge, Short stature, Abnormality of the hand, Cryptorchidism, Bulbo... |
ORPHA:369891 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Short stature, Postaxial polydactyly, Preaxial polydactyly, F... |
OMIM:615503 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Anteverted nares, Sandal gap, Depressed nasal bridge, Prominent nose, Bulbous nose, Wide nasal br... |
ORPHA:2180 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Arachnodactyly, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, ... |
OMIM:615539 |
Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Micrognathia, Clinodactyly, Brachydactyly |
OMIM:617808 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia... |
ORPHA:1318 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Short stature, Short nose |
ORPHA:1389 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Anteverted nares, Proximal placement of thumb, Depressed nasal bridge, M... |
OMIM:217980 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Single transverse palmar crease, Short first metatarsal, Prominent interdigital folds, Short dist... |
OMIM:601957 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Mi... |
ORPHA:2879 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis, Short nose, Broad nasal tip |
OMIM:613670 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Micrognathia, Cryptorchidism, Hip dysplasia, 3-Methylglutaconic aciduria, Delayed puberty, Short ... |
ORPHA:496790 |
Lymphedema-Distichiasis Syndrome |
|
Arrhythmia, Fibrosarcoma |
ORPHA:33001 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Hypospadias, Anteverted nares, Prominent nose, Depressed nasal bridge,... |
OMIM:618316 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Short stature, Micrognathia, Postnatal growth retardation, Wide anterio... |
OMIM:225410 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... |
ORPHA:239 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplas... |
OMIM:617895 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, Tubulointerstitial nephritis, Joint laxity, Anteverted nares, Rh... |
OMIM:218330 |
Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia |
ORPHA:1200 |
Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Abnormality of the elbow, J... |
ORPHA:2220 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis... |
OMIM:619859 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Sandal gap, Abnormal finger flexion crease, Hypospadias, Promi... |
OMIM:210600 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep... |
ORPHA:397715 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial ... |
OMIM:251230 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short stature, Vesicoureteral reflux, Clinodactyly, Short distal phalanx of finger, Sh... |
OMIM:614261 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Short stature, Adren... |
ORPHA:7 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Overlapping toe, Hypospadias, Underdeveloped nasal alae, Short stature, Postnat... |
OMIM:613026 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast |
ORPHA:618 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Patchy osteosclero... |
OMIM:241410 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, 11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Fet... |
ORPHA:50810 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Short stature, Decreased response to growth hormone stimulation test, Elevated circula... |
OMIM:300845 |
Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Myelodysplasia, Osteosarcoma |
OMIM:105650 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapul... |
OMIM:272460 |
Marshall Syndrome |
|
Radial bowing, Anteverted nares, Depressed nasal bridge, Short stature, Coxa valga, Hypoplastic i... |
OMIM:154780 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Short stature, Craniosynostosis, Rhizomelia, Decreased response to growth... |
OMIM:614114 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Depressed nasal b... |
ORPHA:140 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Cryptorchidism, Wide na... |
OMIM:224410 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac... |
OMIM:191100 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Decreased calvarial ossificatio... |
ORPHA:313855 |
Jansen-De Vries Syndrome |
|
Anteverted nares, Short stature, Small hand, Short foot, Brachydactyly |
OMIM:617450 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Long fingers, Flexion contracture, Wide nasal bridge, 2-3 toe syndactyly, Short nose |
OMIM:218000 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Short stature |
OMIM:245570 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Postnatal growth retardation, Nephrolithiasis, Vesicoureteral reflux... |
OMIM:617219 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short nose, Sandal gap, Short stature |
OMIM:300887 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Short stature, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, Cryp... |
ORPHA:457193 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... |
ORPHA:192 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Single transverse palmar crease, Adducted thumb, Hydrocele testis, Brachydactyly |
OMIM:620062 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Short stature, B... |
OMIM:304110 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Adrenal hypoplasia, Micromelia, Micrognathia, Preaxial polydacty... |
OMIM:612651 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Broad nasal tip, Wide nasal bridge, Vesicoureteral reflux, Shortening of all distal... |
OMIM:614749 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Anteverted na... |
ORPHA:261318 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin... |
ORPHA:794 |
Macs Syndrome |
|
Joint laxity, Short stature, Hypergonadotropic hypogonadism, Single transverse palmar crease, Mic... |
OMIM:613075 |
Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... |
OMIM:114150 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Mi... |
OMIM:617822 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Increased circulating androgen concentration, Shortening of all di... |
ORPHA:79320 |
Raine Syndrome |
|
Bowing of the long bones, Increased bone mineral density, Hydroureter, Depressed nasal bridge, Ch... |
OMIM:259775 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
Tetrasomy 5P |
|
Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Postnatal growth retardation, Long... |
ORPHA:3309 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Vesicoureteral reflux, Clinodactyly... |
OMIM:618828 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5t... |
ORPHA:2163 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Broad nasal tip, Metatarsus adductus, Short toe, 4-5 toe... |
ORPHA:3041 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Non-Distal Deletion 10Q |
|
Brachydactyly, Wide nasal bridge, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral ... |
ORPHA:1581 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda... |
OMIM:258860 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Hypopituitarism, Short stature, Depressed nasal brid... |
OMIM:613038 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyse... |
ORPHA:536471 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Anteverted nares, Metaphyseal spurs, Unilateral ren... |
OMIM:618188 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Short stature, Coxa valga, Micrognathia, Hammertoe, Hip dysplasia, Distal... |
OMIM:619833 |
Down Syndrome |
|
Joint laxity, Sandal gap, Depressed nasal bridge, Bilateral single transverse palmar creases, Ren... |
ORPHA:870 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Small hand, Short foot, Growth delay, Short p... |
ORPHA:238750 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Short nose... |
OMIM:614225 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro... |
OMIM:613848 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Short stature, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Abnormality ... |
ORPHA:1770 |
Desmosterolosis |
|
Increased bone mineral density, Severe short stature, Renal agenesis, Depressed nasal bridge, Mic... |
ORPHA:35107 |
Fetal Hydantoin Syndrome |
|
Short stature, Cryptorchidism, Depressed nasal ridge, Triphalangeal thumb, Intrauterine growth re... |
ORPHA:1912 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares |
ORPHA:228384 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Renal neoplasm, Arac... |
ORPHA:536467 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... |
OMIM:613675 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Short stature, Hypospadias, Unilateral cryptorchidism, Female inf... |
ORPHA:261529 |
Harel-Yoon Syndrome |
|
Hip dysplasia, Short nose, Micrognathia |
OMIM:617183 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchidism, Duplication of pha... |
OMIM:243310 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Short stature, Single transverse palmar crease, 2-3 toe syndactyly,... |
OMIM:614701 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Single transverse palmar crease, Cryptorchidism, Wide nasal bridge, Polydactyl... |
OMIM:618950 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Depressed nasal bridge, Conve... |
ORPHA:3015 |
Toluene Embryopathy |
|
Short stature, Tapered finger, Micrognathia, Cryptorchidism, Abnormal localization of kidney, Sho... |
ORPHA:1920 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
9Q21.13 Microdeletion Syndrome |
|
Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Hip dysplasia, ... |
ORPHA:531151 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidn... |
OMIM:616541 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Depressed nasal bridge, Single transverse palmar crease, Tapered fi... |
OMIM:617061 |
Benign Schwannoma |
|
Schwannoma, Peripheral schwannoma, Scleral schwannoma, Abnormality of the liver, Vestibular schwa... |
ORPHA:252164 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sandal gap, Short stature, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 to... |
OMIM:614099 |
Baker-Gordon Syndrome |
|
Joint laxity, Prominent nasal tip, Short nose |
OMIM:618218 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama... |
ORPHA:201 |
20Q11.2 Microduplication Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Short foot, Growth d... |
ORPHA:363659 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Depressed nasal bridge, Flexion contra... |
OMIM:619479 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Overlapping toe, Flexion contracture, Wide nasal bridge, O... |
OMIM:619383 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Convex nasal ridge, Choanal atresia, Abnormal metacarpal morphology |
ORPHA:93262 |
Myhre Syndrome |
|
Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hyposp... |
ORPHA:2588 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Short nos... |
OMIM:616430 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Short stature, Prominent nasal bridge, Micrognathia, Cryptorchidism, R... |
OMIM:300534 |
Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Anteverted nares, Craniosynostosis, Decreased response to growth hormone stimulati... |
OMIM:601853 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Short nose |
ORPHA:1702 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head |
OMIM:605274 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Clinodactyly of the ... |
ORPHA:235 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Renal duplicatio... |
OMIM:180700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Ectopic kidney, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abn... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Ectopic kidney, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abn... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Ectopic kidney, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abn... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Ectopic kidney, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abn... |
ORPHA:881 |
Trisomy 12P |
|
Short stature, Micrognathia, Wide nasal bridge, Large hands, Abnormality of the urinary system, C... |
ORPHA:1699 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Anteverted nares, Cone-shaped epiphyses of the phalanges of ... |
ORPHA:420794 |
Lowry-Maclean Syndrome |
|
Osteopenia, Hypospadias, Choanal atresia, Craniosynostosis, Single transverse palmar crease, Bila... |
ORPHA:2409 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Severe short stature, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
Kabuki Syndrome 2 |
|
Joint laxity, Short stature, Broad nasal tip, Postnatal growth retardation, Micrognathia, Hip dis... |
OMIM:300867 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo... |
ORPHA:3206 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognat... |
ORPHA:1305 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Overhanging nasal tip, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Rin2 Syndrome |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Increased suscep... |
ORPHA:217335 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism... |
OMIM:616894 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... |
ORPHA:2750 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Proteinuria, Short stature, Decreased response to growth hormone stimulati... |
ORPHA:1855 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Clinodactyl... |
OMIM:268305 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Depressed nasal bridge, Long nose, Slender long bone, Short nose, Joint hypermobility |
OMIM:618590 |
Gm1 Gangliosidosis |
|
Depressed nasal bridge, Camptodactyly of finger, Short stature, Broad nasal tip, Joint stiffness,... |
ORPHA:354 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short stature, Primary amenorrhea, Increased serum testosterone level, Cubitus va... |
ORPHA:247768 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Depressed nasal bridg... |
OMIM:211350 |
Alg9-Cdg |
|
Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Microretrognathia, Hitchh... |
ORPHA:79328 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Sandal gap, Broad hallux, Short stature, Single transverse palmar crease, Postnatal g... |
OMIM:614800 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f... |
ORPHA:251071 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Hydroureter, Anteverted nares, Proximal placement of thumb, Depressed nasal bridg... |
OMIM:610759 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Arachnodactyly, Sandal gap, Short stature, Long nose, Joint hypermobility, Cryptorch... |
OMIM:617602 |
Xylt1-Cdg |
|
Joint laxity, Short stature, Coxa valga, Flared metaphysis, Growth delay, Short long bone, Short ... |
ORPHA:370930 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Steroid-dependent nephrotic syndrome, Urinary incontinence, Anteverted nares, Depressed nasal bri... |
OMIM:300912 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Sandal gap, Short stature, Prominent nose, Postnatal growth retardation, Micrognathia, Bulbous no... |
OMIM:156200 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Narrow nasal ridge, Coxa valga, Convex nasal ridge, Postnatal... |
OMIM:248370 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Hypertension, Multiple lipomas, Neopla... |
ORPHA:636 |
Trigonocephaly 1 |
|
Short nose, Long penis, Wide nasal bridge, Craniosynostosis |
OMIM:190440 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Depressed nasal bridge, Wide nasal base, Wide nasal bridge, Oligosacchariduria, Talipes equinovar... |
ORPHA:397709 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Diabetes mellitus, Anteverted nares, Prominent nasal bridge, Hypospadias, Cryptorch... |
ORPHA:500159 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Depressed nasal bridge, Short stature, Patchy osteoscler... |
ORPHA:2323 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Micrognathia, Delayed puberty |
ORPHA:2598 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Prominent nasal bridge, Postaxial polydactyly, Sagittal craniosyn... |
ORPHA:221120 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone stru... |
ORPHA:93160 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Short stature, Micrognathia, Aplasia of the pectoralis major muscle, Glandular ... |
ORPHA:1358 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... |
OMIM:618430 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Depressed nasal bridge, Rhizomelia, Micrognathia, Limi... |
OMIM:258315 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Broad nasal tip, Short toe, Abnormal renal morphology, Wide nasal bridge, Delayed... |
OMIM:239300 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Nocturia, Nasal congestion, Retrograde ejaculation, ... |
OMIM:223360 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Postnatal growth retardation,... |
OMIM:300963 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing... |
OMIM:610682 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Hyperten... |
ORPHA:139411 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, P... |
OMIM:227330 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Anteverted nares, Short stature, Postnatal growth retar... |
ORPHA:261323 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of... |
OMIM:143095 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib... |
ORPHA:276152 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Sandal gap, Anteverted nares, Depressed nasal bridge, Un... |
OMIM:616835 |
Temtamy Syndrome |
|
Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Convex nasal ridge, Brachydactyly |
OMIM:218340 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Short stature, Proportionate short stature, Joint stiffness, Broad metata... |
OMIM:277600 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Duplicated collecting system, Hip contracture, Joint laxity, Microretrognathia, Overlapping toe, ... |
ORPHA:488642 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Postnatal growth retardation, Limitation of joint mobility, Disproportion... |
OMIM:313400 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Convex nasal ridge, M... |
OMIM:600383 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Clubbing, Nasal congestion, Chronic rhinit... |
ORPHA:244 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Postnatal growth retardation, Flexion contracture, Clinodactyly of the 5th finger, ... |
OMIM:614222 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Short stature, Prominent nose, Wide nasal bridge, Symphalangism affecting the phalanges of the ha... |
ORPHA:1292 |
Monosomy 18P |
|
Short stature, Micrognathia, Wide nasal bridge, Hypothyroidism, Brachydactyly |
ORPHA:1598 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Micrognathia, Micropenis, Sho... |
OMIM:134780 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Prominent nasal bridge, Short stature, Renal h... |
ORPHA:2754 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty... |
ORPHA:2075 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Neurogenic bladder, Hyperthyroidism, Decreased response to growth ho... |
ORPHA:488632 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Depressed nasal bridge, Proteinuria, Short nose |
ORPHA:2143 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... |
ORPHA:99880 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint cont... |
OMIM:618914 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss... |
OMIM:210710 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Bilateral single transverse pa... |
ORPHA:1507 |
Monosomy 22 |
|
Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Meningioma, Sarcoma |
ORPHA:96123 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Abnormal renal morphology, Polydactyly, C... |
ORPHA:59315 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Narrow nose, Underdeveloped nasal alae... |
OMIM:164200 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Short stature, Underdeveloped nasal alae, Renal c... |
ORPHA:2031 |
Ellis-Van Creveld Syndrome |
|
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Cryptorchidism, Genu... |
OMIM:225500 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Decreased skull ossification, Partial absence o... |
ORPHA:955 |
Bainbridge-Ropers Syndrome |
|
Ulnar deviation of the hand, Anteverted nares, Arachnodactyly, Prominent nasal bridge, Depressed ... |
OMIM:615485 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Short stature, Rhizomelia, Decreased... |
ORPHA:319182 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Anteverted nares, Short hallux, Tapered finger, Craniosynostosis, Depressed nasal bri... |
OMIM:608156 |
Frank-Ter Haar Syndrome |
|
Short palm, Osteopenia, Bowing of the long bones, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:249420 |
Robinow Syndrome |
|
Micrognathia, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Multicystic kidney ... |
ORPHA:97360 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Cholelithiasis, Rickets |
OMIM:211600 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Anteverted nares, Arachnodactyly, Short nose |
OMIM:616420 |
Radio-Tartaglia Syndrome |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Tapered finger, Precocious pube... |
OMIM:619312 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... |
ORPHA:143 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Short nose |
OMIM:618087 |
Woolly Hair Nevus |
|
Precocious puberty, Brachydactyly |
ORPHA:79414 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Short stature, Abnormality of the upper urinary tract, Elbow dislocation, Posta... |
ORPHA:2916 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Short nose |
ORPHA:833 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Cinca Syndrome |
|
Reduced bone mineral density, Growth delay, Brachydactyly |
ORPHA:1451 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Weiss-Kruszka Syndrome |
|
Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Clinodactyly of t... |
OMIM:618619 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Proportionate short stature, Unilateral cr... |
OMIM:613457 |
Dpm1-Cdg |
|
Depressed nasal bridge, Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb u... |
ORPHA:79322 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ... |
OMIM:136140 |
Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Bicoronal synostosis, Brachydactyly |
OMIM:604757 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly |
OMIM:616589 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Depressed nasal bridge, Urinary incontinence, Rhizomelia, Wide anterior fon... |
OMIM:616482 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short nose, Hip dislocation, Polycystic kidney dysplasia |
OMIM:608776 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ureteral stenosis, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Short stature, Abnor... |
ORPHA:2719 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly |
OMIM:618381 |
Short Syndrome |
|
Diabetes mellitus, Severe short stature, Wide nasal bridge, Joint hyperflexibility, Short palm, B... |
ORPHA:3163 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic il... |
ORPHA:96334 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Wide anterior fontanel, Intrauterine growth retarda... |
OMIM:219200 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Anteverted nares, Depressed nasal bridge, Hypopla... |
OMIM:252500 |
Peho Syndrome |
|
Short nose, Tapered finger |
OMIM:260565 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat... |
OMIM:114290 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Nicolaides-Baraitser Syndrome |
|
Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan... |
OMIM:601358 |
Geleophysic Dysplasia 2 |
|
Short stature, Joint stiffness, Limitation of joint mobility, Cone-shaped epiphysis, Short foot, ... |
OMIM:614185 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Oligomen... |
OMIM:617442 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short digit, Short fourth metatarsal, Multiple joint contractures, Single transvers... |
OMIM:618143 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Anteverted nares, Coxa valga, Tapered finger, Depressed nasal bridge... |
OMIM:301040 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Short stature, Micrognathia, Prea... |
OMIM:610536 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Short statur... |
ORPHA:1974 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Fetal pyel... |
ORPHA:264450 |
Au-Kline Syndrome |
|
Overlapping toe, Wide nasal ridge, Postaxial polydactyly, Coxa valga, Sagittal craniosynostosis, ... |
OMIM:616580 |
Myxoma, Intracardiac |
|
Cardiac myxoma |
OMIM:255960 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Prominent nose, Cryptorchidism, Squared ili... |
OMIM:616300 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Long fingers, Flexion contrac... |
OMIM:608149 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... |
ORPHA:177907 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Depressed nasal bridge, Short stature, Proportionate short st... |
OMIM:608328 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Short stature, Micrognathia, Cr... |
OMIM:618454 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Micrognathia, Wide... |
ORPHA:1908 |
Coffin-Siris Syndrome |
|
Joint laxity, Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Postnatal g... |
ORPHA:1465 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Ectopic kidney, Micromelia, Microgn... |
OMIM:122470 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... |
ORPHA:97685 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Bilateral cryptorchidism, Distal widening of metacarpals, Cox... |
OMIM:602535 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Proteinuria, Broad nasal tip, Non-acidotic proximal tubulopathy, Wide ant... |
OMIM:222448 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Hypothyroidism, Chronic rhinitis, Goiter |
OMIM:617577 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Glucagonoma |
ORPHA:438274 |
Miller-Dieker Lissencephaly Syndrome |
|
Anteverted nares, Single transverse palmar crease, Micrognathia, Cryptorchidism, Wide nasal bridg... |
OMIM:247200 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Decreased palmar creases, Craniosynostosis, Tapered finger, Slender finger, Ge... |
ORPHA:2953 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short stature, Bulbous nose, Wide nasal bridge, Short nose, R... |
OMIM:618571 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Short palm, Clinodactyly of... |
ORPHA:3107 |
Acrocallosal Syndrome |
|
Clinodactyly of the 5th finger, Micropenis, Microretrognathia, Finger syndactyly, Hypospadias, Ta... |
OMIM:200990 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Renal hypoplasia, Broad palm, Short foot, Sh... |
OMIM:269860 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Tapered finger, Enuresis nocturna, Brachydactyly |
OMIM:619680 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Hypospadias, Micrognathia, Intrauterine growth retardation, Short nose, B... |
ORPHA:1913 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Micrognathia, Flexion contracture, Osteoporosis, Short nose |
OMIM:615851 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A... |
ORPHA:800 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex |
OMIM:230600 |
Alg12-Cdg |
|
Wide nose, Decreased serum insulin-like growth factor 1, Sandal gap, Hypospadias, Proximal placem... |
ORPHA:79324 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Cryptorchidism, Drumstick terminal phalanges, Intrauterine growth retardation, ... |
OMIM:612938 |
Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Kleefstra Syndrome 1 |
|
Hypospadias, Anteverted nares, Single transverse palmar crease, Cryptorchidism, Tracheobronchomal... |
OMIM:610253 |
Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Osteoarthritis, Hypoplasti... |
ORPHA:560 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the tibia, Genu varum, Fin... |
ORPHA:2753 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia |
ORPHA:89937 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Short stature, Tarsal synost... |
ORPHA:2473 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification |
OMIM:608189 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... |
ORPHA:96179 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Short stature, Brachydactyly |
ORPHA:3218 |
Dermotrichic Syndrome |
|
Proportionate short stature, Aminoaciduria, Depressed nasal bridge, Short nose |
ORPHA:99688 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Micrognathia, Congenital contracture |
OMIM:615042 |
Pontocerebellar Hypoplasia, Type 10 |
|
Tapered finger, Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growt... |
OMIM:615803 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Choanal atresia, Short stature, Micrognathia, Cryptorchidism, Hypoplastic frontal si... |
OMIM:300712 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Overlapping toe, Anteverted... |
OMIM:213980 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Elevated circ... |
ORPHA:562 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Wide nose, Hypospadias, Nephroblastoma, Anteverted nares, Depressed... |
OMIM:257300 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... |
ORPHA:96182 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Underdeveloped nasal alae, Bifid nasal tip, P... |
OMIM:620107 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial... |
ORPHA:476126 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, ... |
OMIM:601353 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Femoral bowing, Short long bone, Hypoplasia of the thymus, Talipes equi... |
OMIM:617022 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Micrognathia, Flexion contracture, Hypoplastic iliac wi... |
OMIM:263650 |
Aymé-Gripp Syndrome |
|
Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger, Depressed nasal bridge, Short ... |
ORPHA:1272 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Anteverted nares, Epispadias, Abnormality of the ureter, ... |
ORPHA:3339 |
Becker Nevus Syndrome |
|
Upper limb asymmetry, Abnormal tibia morphology, Spina bifida occulta, Micromelia |
ORPHA:64755 |
Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Short stature, Joint stiffness, Micrognathia, Cryptorchidi... |
ORPHA:2510 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Flexion contracture, Abnormal medullary pyramid morphology, Limb... |
ORPHA:79243 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, Clinodactyl... |
OMIM:619522 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Short nose, Short stature, Micrognathia |
ORPHA:79113 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hyperparathyroidism, Parathyroid hyperplasia, Rickets |
OMIM:612089 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Peripheral primiti... |
ORPHA:370348 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anteverted nares, Ectopic kidney, Absent radius, Preaxial hand p... |
ORPHA:233 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Prominent nasal bridge, Short stature, Joint stiffness, Crypto... |
OMIM:139210 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Hypoplastic vertebral bodies, Flared iliac wing, Short l... |
ORPHA:79255 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Anteverted nares, Depressed nasal bridge, Tapered fing... |
OMIM:613458 |
Fg Syndrome 5 |
|
Anteverted nares, Short nose, Hypospadias, Depressed nasal bridge |
OMIM:300581 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Anteverted nares, Abnormality of the kid... |
ORPHA:847 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, Contracture of the prox... |
OMIM:618050 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Limb joint contract... |
OMIM:620369 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Wide nasal bridge, Clinodactyly, Thick nasal alae, 3-4 t... |
OMIM:618727 |
Trisomy 9P |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Abnormal nasal morpho... |
ORPHA:236 |
Distal Deletion 9P |
|
Short nose, Hypospadias, Wide nasal bridge, Brachydactyly |
ORPHA:1642 |
Chops Syndrome |
|
Anteverted nares, Short stature, Tracheomalacia, Cryptorchidism, Horseshoe kidney, Vesicoureteral... |
OMIM:616368 |
Trisomy 10P |
|
Thumb contracture, Anteverted nares, Abnormality of the kidney, Depressed nasal bridge, Abnormali... |
ORPHA:171929 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Hematochezia, Thyroid carcinom... |
ORPHA:157794 |
16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Short stature, Cryptorchidism,... |
ORPHA:261236 |
White-Sutton Syndrome |
|
Duplicated collecting system, Joint laxity, Depressed nasal bridge, Short stature, Broad nasal ti... |
OMIM:616364 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Slc39A8-Cdg |
|
Osteopenia, Short stature, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture,... |
ORPHA:468699 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anteverted nares, Ureteral hypoplasia, Depressed nasal bri... |
OMIM:614080 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Osteoporosis, Wide na... |
OMIM:607330 |
Maternal Phenylketonuria |
|
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Abnormal renal morphology, Wid... |
ORPHA:2209 |
Kinsship Syndrome |
|
Osteopenia, Short stature, Single transverse palmar crease, Coxa valga, Micrognathia, Bulbous nos... |
OMIM:619297 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Rocker bottom foot, Micromelia, Elbow dislocation, ... |
ORPHA:99776 |
Trisomy 18 |
|
Microretrognathia, Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:3380 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Alg8-Cdg |
|
Intrauterine growth retardation, Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Pos... |
ORPHA:93325 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short nose, Micrognathia, Wide nasal bridge, Tapered finger |
OMIM:620250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Hypospadias, Craniosynostosis, Tapered finger, Depressed nasal bridge, Broad nas... |
OMIM:309590 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Mild short stature, Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Flexion contracture, Limitation of joint mobility, Arthrogrypos... |
ORPHA:2836 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Wide nose, Craniosynostosis, Broad nasal tip, Aplasia/Hypoplasia involving bones of t... |
ORPHA:1521 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Choana... |
OMIM:263750 |
Malan Syndrome |
|
Long fingers, Short nose, Coxa valga |
OMIM:614753 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Micromelia, Renal hypoplasia/aplasia, Cubitu... |
ORPHA:289 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Anteverted nares, Brachydactyly |
OMIM:608624 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micromelia, Micrognathia, Vesicoureteral reflux... |
ORPHA:199 |
Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia |
ORPHA:291 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Depress... |
ORPHA:3404 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Short stature, Broad nasal tip, Postnatal growth re... |
ORPHA:357074 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... |
ORPHA:364577 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Sandal gap, Cryptorchidism, Abnormal fibula morpholo... |
ORPHA:1812 |
Frontorhiny |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Midline nasal groove, ... |
ORPHA:391474 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Micromelia, Postaxial hand polydactyly, Short nose, Cystic renal dysplasia, Enl... |
OMIM:200995 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Anteverted nares, Prominent nasal bridge, Short stature, Prominent crus of helix, Si... |
ORPHA:1449 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Sh... |
OMIM:115150 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Mitral regurgitation, Hemangioma, Pulmonic stenosis, Lisch nodules... |
ORPHA:363700 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial pol... |
OMIM:617925 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Anteverted nares, Tarsal synostosis, Short stature, Bulbous nose, Vesicoureteral re... |
OMIM:157800 |
Adnp Syndrome |
|
Joint laxity, Recurrent urinary tract infections, Broad hallux, Sandal gap, Urinary incontinence,... |
ORPHA:404448 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures... |
OMIM:602531 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Tapered finger, Horseshoe kidney, Joint hyperflexibility, Cl... |
ORPHA:65286 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia |
ORPHA:79107 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de... |
OMIM:614069 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Craniosynostosis, Proboscis, Postaxial polydactyly, Pos... |
OMIM:605627 |
Diamond-Blackfan Anemia 8 |
|
Growth delay, Short nose, Short stature, Wide nasal bridge |
OMIM:612563 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ... |
ORPHA:2751 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Micropenis, M... |
ORPHA:672 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Neurogenic bladder, Short stature, Micrognathia, Growth delay, Intrauterine growth ret... |
OMIM:608779 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... |
ORPHA:666 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose, Joint hypermobility |
OMIM:300143 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Growth delay, Congenital contracture, Micrognathia, Brachydactyly |
OMIM:620156 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Generalized osteosclerosis,... |
OMIM:602398 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe po... |
OMIM:266810 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Wide... |
OMIM:109400 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Polydactyly, Short nose |
ORPHA:314655 |
Mgat2-Cdg |
|
Osteopenia, Brachydactyly, Abnormality of the endocrine system, Recurrent upper and lower respira... |
ORPHA:79329 |
Toriello-Carey Syndrome |
|
Short stature, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Cryptorchidism... |
ORPHA:3338 |
Cowden Syndrome 1 |
|
Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hydrocele testis, Hamartomatous polyposi... |
OMIM:158350 |
Floating-Harbor Syndrome |
|
Long nose, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short me... |
ORPHA:2044 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fing... |
OMIM:614207 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Diabetes mellitus, Abnormality of the kidney, Postaxial polydactyly, Nephrogenic diab... |
OMIM:209900 |
Tetrasomy 12P |
|
Joint hyperflexibility, Short nose, Anteverted nares, Short stature |
ORPHA:884 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Long fi... |
OMIM:617527 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia |
OMIM:307800 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Short stature, Postaxial polydactyly, Micrognathia, Renal hypoplasia, Renal... |
OMIM:618460 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta... |
OMIM:305600 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Increased circulatin... |
OMIM:110100 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Single transverse palmar crease, Mic... |
ORPHA:521426 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Cryptorchidism... |
OMIM:619005 |
Jacobsen Syndrome |
|
Anteverted nares, Hypospadias, Depressed nasal bridge, Micrognathia, Missing ribs, Cryptorchidism... |
OMIM:147791 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi... |
ORPHA:373 |
Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Short stature, Brachydactyly |
OMIM:613195 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l... |
ORPHA:974 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
19P13.13 Microdeletion Syndrome |
|
Sandal gap, Anteverted nares, Depressed nasal bridge, Long fingers, Clinodactyly, Short nose |
ORPHA:357001 |
Cowden Syndrome 6 |
|
Fibroadenoma of the breast, Breast carcinoma, Hydrocele testis, Hamartomatous polyposis, Meningio... |
OMIM:615109 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Cebalid Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge |
OMIM:618774 |
Lathosterolosis |
|
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, ... |
ORPHA:46059 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Contractures of the large joints, Short nose, Micrognathia |
ORPHA:329178 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Broad thumb, Brachydactyly |
OMIM:614526 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Anteverted... |
ORPHA:2308 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Finger syndactyly, Multicystic ki... |
ORPHA:818 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Depressed nasal bridge, Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia... |
OMIM:617088 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... |
ORPHA:3342 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Enuresis nocturna, Pineal cyst, Short 4th ... |
OMIM:615873 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Primary hyperparathyroidism, Osteomalacia |
OMIM:600740 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Male urethral... |
OMIM:613406 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia |
OMIM:614744 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility |
OMIM:619518 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Renal cyst, Tibial bowing, Choanal stenosis, Micropenis, Streak ovary, Hypospadias,... |
ORPHA:798 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S... |
OMIM:268300 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Renal insufficiency, Depressed nasal bridge, Short stature, Craniosynos... |
OMIM:613610 |
Corneodermatoosseous Syndrome |
|
Severe short stature, Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoder... |
ORPHA:3194 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Wide nose, Short stature, Anteverted nares, Hashimoto thyroiditis... |
ORPHA:109 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee ... |
OMIM:614976 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Clinodactyly of the 5th finger, Spina bifida occu... |
ORPHA:709 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... |
ORPHA:1791 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Recurrent urinary tract infections, Anteverted nares, Depressed nasal bridge, S... |
OMIM:617157 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases |
OMIM:611936 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Short stature, Hypogonadotropic hypogonadism, Growth delay, Short middle ... |
OMIM:301030 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, ... |
OMIM:270400 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Micrognathia |
ORPHA:163961 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Short stature |
ORPHA:289266 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme... |
ORPHA:508488 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Sandal gap, Proteinuria, Depressed nasal bridge, Decreased fibular diameter, Narrow n... |
OMIM:619127 |
Poikiloderma With Neutropenia |
|
Joint laxity, Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Joint stiffness, ... |
OMIM:604173 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Renal agenesis, Choanal atresia, Anteverted nares, Midn... |
ORPHA:280200 |
Stickler Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Anteverted nares, Depressed nasal bridge, Short stature, Mic... |
ORPHA:828 |
Holoprosencephaly |
|
Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Proteinuria, Choanal atresia, Antever... |
ORPHA:2162 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Anteverted nares, Short stature, Tracheoma... |
ORPHA:261494 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Tetrasomy 18P |
|
Large hands, Short nose |
ORPHA:3307 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Wide anterior fontanel, Short nose, Congenital hip dislocation, Contracture of the proximal inter... |
ORPHA:457279 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Dilatation of renal cal... |
ORPHA:466950 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... |
ORPHA:87 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... |
OMIM:309000 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, O... |
ORPHA:2671 |
C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short sta... |
ORPHA:1308 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Anteverted nares, Tapered finger, Choanal atresia, Narrow nose,... |
OMIM:301044 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Short stature, Joint stiffness, Micrognathia, Intrauterine growth retardation, ... |
ORPHA:1915 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Hydroureter, Proportionate shortening of all digits, Anteverted nares, Tapered... |
ORPHA:280633 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Micromelia, Micro... |
ORPHA:93271 |
Ogden Syndrome |
|
Congenital hip dislocation, Maternal diabetes, Micrognathia, Clinodactyly of the 5th finger, Micr... |
OMIM:300855 |
Charge Syndrome |
|
Depressed nasal bridge, Choanal atresia, Short stature, Hypogonadotropic hypogonadism, Postnatal ... |
ORPHA:138 |
Degcags Syndrome |
|
Osteopenia, Prominent nose, Micrognathia, Bilateral renal hypoplasia, Syndactyly, Hypospadias, An... |
OMIM:619488 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... |
ORPHA:137605 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Microretrognathia, Tapered finger, Wide nasal bridge, Hydrocele testis, Short columella, Talipes ... |
OMIM:613603 |
Arboleda-Tham Syndrome |
|
Bilateral cryptorchidism, Genu varum, Microretrognathia, Short hallux, Enlarged proximal interpha... |
OMIM:616268 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal morphology of ulna, Short stature, Cryptorchid... |
ORPHA:1340 |
Cog1-Cdg |
|
Osteopenia, Rhizomelia, Coxa valga, Postnatal growth retardation, Micrognathia, Wide nasal bridge... |
ORPHA:263508 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cryptorchidism, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Depressed nasal bridge, Anteverted nares, Short stature, Single trans... |
OMIM:244450 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Joint stiffness, Talipes equinovarus, Hand clenching, Short nose, Joint h... |
OMIM:617988 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose |
ORPHA:284169 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Prominent nasal bridge, Microg... |
ORPHA:1587 |
Monosomy 9P |
|
Hypospadias, Anteverted nares, Proximal placement of thumb, Depressed nasal bridge, Abnormality o... |
ORPHA:261112 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Broad hallux phalanx, Sandal gap, Anteverted nares, Craniosynostosis, Phimosis, Broad... |
ORPHA:363611 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Anteverted nares, Narrow nasal tip, Tapered finger, Short thumb, Cryptorchidism, Wid... |
ORPHA:477993 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Proteinuria, Short stature, Underdeveloped nasal alae, Wide nasal ... |
OMIM:311200 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Underdeveloped nasal alae, Ab... |
ORPHA:2315 |
Celiac Disease, Susceptibility To, 1 |
|
Lymphoma, Osteoporosis, Rickets |
OMIM:212750 |
Developmental And Epileptic Encephalopathy 75 |
|
Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
White-Kernohan Syndrome |
|
Joint laxity, Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, H... |
OMIM:619426 |
Noonan Syndrome 1 |
|
Male infertility, Juvenile myelomonocytic leukemia, Cryptorchidism, Hypogonadism, Pulmonic stenos... |
OMIM:163950 |
Hydrolethalus |
|
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the sense of... |
ORPHA:2189 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Depressed nasal bridge, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Hyperimidodipeptiduria, Concave nasal ridge, Short nose |
OMIM:170100 |
Okur-Chung Neurodevelopmental Syndrome |
|
Anteverted nares, Broad hallux, Single transverse palmar crease, Micrognathia, Wide nasal bridge,... |
OMIM:617062 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Depressed nasal bridge, Short stature, Cryptorchidism, Urolithi... |
OMIM:300661 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia |
OMIM:273680 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Thick nasal alae, Antev... |
OMIM:303600 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Overlapping toe, Broad hallux, Sandal gap, Anteverted nares, Depressed nasal... |
OMIM:618332 |
Peters-Plus Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Limited elbow... |
OMIM:261540 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Cardiac rhabdomyoma |
OMIM:618971 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Overlapping toe, Depressed nasal bridge, Short stature, Depre... |
ORPHA:99843 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Short stature, Flexion contracture, Renal hypoplasia, Genu valgum, Hyp... |
OMIM:619321 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter... |
OMIM:194050 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Short nose, Anteverted nares |
ORPHA:79134 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Wide nose, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Mic... |
OMIM:256520 |
Ayme-Gripp Syndrome |
|
Depressed nasal bridge, Short stature, Tapered finger, Wide nasal bridge, Radioulnar synostosis, ... |
OMIM:601088 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge, Short stature |
ORPHA:2835 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Wide nose, Prominent n... |
OMIM:606170 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Narrow nas... |
ORPHA:464306 |
Deeah Syndrome |
|
Overlapping fingers, Short stature, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
Zttk Syndrome |
|
Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Craniosynostosis, Short stature, Fle... |
OMIM:617140 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Anteverted nares, Short stature, Decreased response to growth hormone stimulation te... |
ORPHA:444077 |
Gapo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Growth delay, Sho... |
OMIM:230740 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Short stature, Recurrent upper respiratory tract infections, Rhi... |
ORPHA:508542 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Short nose |
OMIM:242860 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Depressed nasal bridge, Broad 2... |
OMIM:280000 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly |
OMIM:620237 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal brid... |
OMIM:619124 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Talipes equinovarus, Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Micromelia, Uraciluria, Deep palm... |
ORPHA:1675 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Bulbous nose, Wide nasa... |
ORPHA:466943 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Growth delay, Increased u... |
OMIM:252160 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Hydronephrosis |
OMIM:619179 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Depressed nasal bridge, Penile freckling, Hydrocele testis, Short nose |
OMIM:605309 |
Down Syndrome |
|
Joint laxity, Sandal gap, Short stature, Single transverse palmar crease, Hypoplastic iliac wing,... |
OMIM:190685 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Micrognathi... |
OMIM:300749 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Anteverted nares, Cryptorchidism, Growth delay, Vesicou... |
ORPHA:96147 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Micrognathia, Abnormal tubulointerstitial morphology, Nephrocalc... |
ORPHA:904 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyl... |
OMIM:616546 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ... |
ORPHA:522077 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Short toe, Wide nasal ... |
ORPHA:1519 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Anteverted nares, Depressed na... |
OMIM:312870 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the k... |
ORPHA:1606 |
Elsahy-Waters Syndrome |
|
Wide nose, Hypospadias, Anteverted nares, Bifid nasal tip, Bilateral cryptorchidism, Bulbous nose... |
OMIM:211380 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteochondroma, Osteopenia, Bilateral cryptorchidism, Osteoma, Rib exostoses, Scapular exostoses,... |
OMIM:150230 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Wide nasal bridge, Arthriti... |
ORPHA:93 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Decreased testicular size, Hypospadias, Anteverted nares, Depressed nasal bridge, Tapered finger,... |
OMIM:309580 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Okamoto Syndrome |
|
Anteverted nares, Urinary incontinence, Depressed nasal bridge, Underdeveloped nasal alae, Joint ... |
ORPHA:2729 |
Developmental And Epileptic Encephalopathy 100 |
|
Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Micrognathia, Bilateral... |
OMIM:619777 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Bulbous nose, Depressed nasal bridge, Short nose |
ORPHA:261144 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Finger clinodactyly, Pecto... |
ORPHA:306542 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Joint stiffness, Micrognathia, ... |
OMIM:618820 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Renal hypoplasia, Vesicoureteral reflux, Short nose, Hydronephrosis |
OMIM:613735 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Brachydactyly, Mesoaxial foot polydactyly, Broad hallux, Overlapping toe, Duplicati... |
OMIM:612474 |
Monosomy 9Q22.3 |
|
Palmar pits, Joint hyperflexibility, Polydactyly, Nephroblastoma, Short nose |
ORPHA:77301 |
Progressive Non-Fluent Aphasia |
|
Brain neoplasm |
ORPHA:100070 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm... |
OMIM:607932 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Growth delay, Short nose, Anteverted nares, Decreased fertility |
OMIM:234050 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Cadds |
|
Intrauterine growth retardation, Short nose, Adrenal hypoplasia, Micrognathia |
ORPHA:369942 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Noonan Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Joint hyperflexibilit... |
ORPHA:648 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Short stature, Allergic rhinitis, Osteomyelitis, Brachy... |
ORPHA:443811 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Short nose, Choanal stenosis, Craniosynostosis |
ORPHA:1790 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Depressed nasal bridge, Short stature, Craniosynostosis, Micrognathia, Wide anterior ... |
OMIM:612289 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Barber-Say Syndrome |
|
Wide nose, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Bulbous nos... |
OMIM:209885 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Intrauterine growth retardation, Short no... |
OMIM:608013 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Microretrognathia, Arachnodactyly, Cryptorchidism, Generalized joint laxity, Nephro... |
OMIM:601776 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Postnatal growth retardation, Short stature, Brachydactyly |
ORPHA:168577 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Flexion contracture, Nephrotic ... |
ORPHA:505248 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Coxa valga, Achilles tendon contracture, Gene... |
ORPHA:404454 |
Meester-Loeys Syndrome |
|
Short stature, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Joint contracture, ... |
OMIM:300989 |
Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Abnormal nasopharynx morphology, Hypospadias, Renal agenesis, Choana... |
OMIM:192350 |
Adenylosuccinase Deficiency |
|
Growth delay, Short nose, Anteverted nares |
OMIM:103050 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Hypospadias, Camptodactyly of finger, Depressed nasal bridge, Ectopic kidney, M... |
OMIM:607872 |
Trichothiodystrophy 1, Photosensitive |
|
Hypogonadism, Short nose, Flexion contracture, Short stature |
OMIM:601675 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Decreased response to growth hormone sti... |
ORPHA:293987 |
Waardenburg Syndrome Type 1 |
|
Short nose, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:894 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... |
OMIM:160980 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Depressed nasal bridge, Unilateral renal agenesis, Sagittal craniosynostosis, Abs... |
ORPHA:500150 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... |
OMIM:610168 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Osteomyelitis, Hypospadias, Anteverted nares, Single transverse palmar crease, Bulb... |
OMIM:619475 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Anteverted nares, Short stature, Micrognathia, Cryptorchidism, Wide nasal bridge, In... |
ORPHA:2282 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Osteomalacia |
ORPHA:405 |
Schisis Association |
|
Renal agenesis, Micromelia |
ORPHA:63862 |
Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, Cryptorchid... |
OMIM:609942 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
Craniofacial-Deafness-Hand Syndrome |
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Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Joint laxity, Sandal gap, Broad nasal tip, Long fingers, Wide nasal bridge, Cutaneous syndactyly,... |
OMIM:620330 |
Penile Agenesis |
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Urethral atresia, male, Hydroureter, Depressed nasal bridge, Maternal diabetes, Cryptorchidism, F... |
ORPHA:49 |
Wilson Disease |
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Hypoparathyroidism, Osteomalacia, Osteoarthritis, Osteoporosis, Joint hypermobility |
OMIM:277900 |
Cerebrofaciothoracic Dysplasia |
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Wide nose, Short stature, Short nose |
ORPHA:1394 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Bile duct proliferation, Thin bo... |
OMIM:613658 |
Holoprosencephaly 7 |
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Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... |
OMIM:610828 |
Oculocerebrorenal Syndrome Of Lowe |
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Benign neoplasm of the central nervous system, Hyperparathyroidism, Osteomalacia, Recurrent fract... |
ORPHA:534 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Flexion contracture, R... |
OMIM:601803 |
Peroxisome Biogenesis Disorder 4B |
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Short nose, Adrenal insufficiency, Single transverse palmar crease, Ureterocele |
OMIM:614863 |
Infantile Nephropathic Cystinosis |
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Rickets |
ORPHA:411629 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, B-cell lymphoma, Arthritis, Cholesteatoma |
OMIM:619381 |
1P21.3 Microdeletion Syndrome |
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Short nose, Micrognathia, Joint hypermobility, Broad nasal tip |
ORPHA:293948 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Brain neoplasm, Choroidal melanoma, Decreased response to growth hormone s... |
ORPHA:273 |
Adams-Oliver Syndrome 1 |
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Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae |
OMIM:305100 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Rickets |
OMIM:219800 |
Frontofacionasal Dysplasia |
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Bifid nose, Short nose, Midline defect of the nose, Underdeveloped nasal alae |
OMIM:229400 |
Lipodystrophy, Familial Partial, Type 7 |
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Type I diabetes mellitus, Short nose, Polyuria, Narrow nasal ridge |
OMIM:606721 |
Generalized Arterial Calcification Of Infancy |
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Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical vertebrae, Hypophosphate... |
ORPHA:51608 |
Familial Atrial Myxoma |
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Tricuspid regurgitation, Congestive heart failure, Jaundice, Cardiac myxoma, Cholestasis, Heart m... |
ORPHA:615 |
Acute Promyelocytic Leukemia |
|
Hematuria, Metrorrhagia, Epistaxis |
ORPHA:520 |