Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal metaphysis morphology, ... |
ORPHA:1040 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de... |
ORPHA:1570 |
Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit... |
ORPHA:2141 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S... |
ORPHA:166016 |
Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... |
OMIM:127300 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... |
OMIM:174400 |
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 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Polydactyly |
OMIM:615988 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly |
OMIM:618498 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
Spermatogenic Failure 84 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... |
OMIM:620409 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:619515 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... |
OMIM:164900 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... |
OMIM:601438 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... |
OMIM:619585 |
Brachydactyly, Type C |
|
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... |
OMIM:113100 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:612997 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morphology, Foot oligodac... |
ORPHA:2879 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
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 |
Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Limited knee flexion/extension, Short tibia, Structural foot d... |
ORPHA:93323 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... |
OMIM:301059 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,... |
ORPHA:3104 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... |
OMIM:620084 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... |
ORPHA:1972 |
Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
Spermatogenic Failure 79 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypopl... |
ORPHA:2491 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... |
OMIM:618643 |
Heart-Hand Syndrome Type 2 |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... |
ORPHA:1350 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Arachnodactyly, Humeroradial synostosis |
OMIM:614416 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... |
OMIM:619598 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... |
OMIM:612447 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Squared iliac bones, Abnormal form of the vertebral bodies, Abn... |
ORPHA:3344 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Syndactyly, Type Iii |
|
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... |
OMIM:300510 |
Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:1263 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Humero-Radio-Ulnar Synostosis |
|
Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac... |
ORPHA:3266 |
Syndactyly Type 1 |
|
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
Isolated Split Hand-Split Foot Malformation |
|
Oligodactyly, Absent hand, Split hand, Finger syndactyly |
ORPHA:2440 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... |
ORPHA:1837 |
Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormality o... |
ORPHA:3130 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... |
OMIM:227270 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal cupping, Broad-based gait, Short femoral neck, Short humerus, Talipes equinovarus, Na... |
OMIM:616716 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... |
ORPHA:3268 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Male infertility, Oligozoospermia |
OMIM:619689 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin... |
OMIM:609441 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility |
OMIM:618670 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... |
OMIM:301101 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... |
OMIM:609052 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:619828 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Synostosis of carpal bones, Micromelia, Abnormal epiphysis morphology, Abnormal tibia morphology,... |
ORPHA:2639 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... |
OMIM:619696 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... |
OMIM:201170 |
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 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Fibrochondrogenesis 1 |
|
Thin ribs, Small hand, Hypoplastic scapulae, Joint contracture of the hand, Broad long bones, Sho... |
OMIM:228520 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... |
ORPHA:2831 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Satoyoshi Syndrome |
|
Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of the hand, Brachydactyly, Short me... |
OMIM:600705 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... |
OMIM:186350 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... |
OMIM:619177 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Anterior pituita... |
OMIM:181450 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:618117 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
Seckel Syndrome 7 |
|
Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia... |
OMIM:614851 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... |
OMIM:276820 |
Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Short forearm, Hypoplastic scapulae, Radial bowing, Abnormal... |
ORPHA:93320 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... |
ORPHA:2633 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul... |
ORPHA:958 |
Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Radioulnar synostosis, Dislocated radial head |
OMIM:266255 |
Tetramelic Monodactyly |
|
Hand monodactyly, Split hand, Split foot, Foot monodactyly |
OMIM:187510 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Angioosteohypotrophic Syndrome |
|
Upper limb undergrowth, Aplasia/hypoplasia involving bones of the upper limbs, Short humerus, Hyp... |
ORPHA:75508 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Toe syndactyly, Aplasia/Hypoplasia of the distal... |
ORPHA:3246 |
Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... |
OMIM:164745 |
Radial Hemimelia |
|
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... |
ORPHA:93321 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:617690 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Acrorenal Syndrome |
|
Abnormal tibia morphology, Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna |
ORPHA:971 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, ... |
ORPHA:3320 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:619665 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Decreased fertility, Abnormal morphology of ulna, Short neck, Abnormal metacarpal m... |
ORPHA:2233 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Polydactyly |
OMIM:615987 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact... |
ORPHA:3258 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Encephalocel... |
OMIM:108720 |
Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... |
OMIM:251255 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
Tetrasomy X |
|
Premature ovarian insufficiency, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyl... |
ORPHA:9 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Narrow pelvis bone, Long hallu... |
OMIM:600002 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Hypogonadism, Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly |
OMIM:615984 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly |
OMIM:176305 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ... |
ORPHA:3144 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... |
OMIM:609616 |
Perrault Syndrome 4 |
|
Cubitus valgus, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulatin... |
OMIM:615300 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Dysspondyloenchondromatosis |
|
Platyspondyly, Anisospondyly, Lower limb asymmetry, Genu valgum, Metaphyseal enchondromatosis, Ve... |
ORPHA:85198 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... |
OMIM:611263 |
Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
Otoonychoperoneal Syndrome |
|
Ankle flexion contracture, Hip contracture, Knee flexion contracture, Straight clavicles, Aplasia... |
OMIM:259780 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Kyphomelic Dysplasia |
|
Narrow chest, Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Undulate ribs, Bow... |
ORPHA:1801 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly |
OMIM:241000 |
46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... |
OMIM:271700 |
Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... |
ORPHA:98798 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
ERI1-related disease |
|
Platyspondyly, Pectus carinatum, Narrow chest, Slender metacarpals, Oligodactyly, Clinodactyly of... |
OMIM:608739 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
Campomelic Dysplasia |
|
Small abnormally formed scapulae, Narrow chest, Kyphosis, 11 pairs of ribs, Femoral bowing, Micro... |
ORPHA:140 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the radius, Microretrognathia, Oligodactyly, Abnormality of the wrist, Cryp... |
ORPHA:1307 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot |
ORPHA:1122 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:614837 |
Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Short palm |
ORPHA:93328 |
Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Microcephaly-Micromelia Syndrome |
|
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... |
OMIM:251230 |
Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Cubitus valgus, Brachydactyly, Primary amen... |
ORPHA:247768 |
Acrodysostosis |
|
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... |
ORPHA:950 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Male infertility, Oligozoospermia |
OMIM:258150 |
Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... |
OMIM:617642 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
Exostoses, Multiple, Type Ii |
|
Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Cervical myelopathy, Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, ... |
OMIM:133700 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... |
OMIM:200980 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Hip dislocation, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contra... |
OMIM:210600 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Primary amenorrhea, Aplasia of ... |
OMIM:273250 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... |
OMIM:208500 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectovaginal fistula |
ORPHA:3016 |
Brachydactyly Type A1 |
|
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... |
ORPHA:93388 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... |
ORPHA:56305 |
Liebenberg Syndrome |
|
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Abnormality of the uterus, Camptodactyly of finger, Breast aplasi... |
ORPHA:3138 |
Arms, Malformation Of |
|
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna |
OMIM:107900 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Micromelia, Abnormal epiphysis morph... |
ORPHA:93351 |
Ectrodactyly-Polydactyly |
|
Split hand, Split foot, Postaxial hand polydactyly |
OMIM:225290 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Microgna... |
OMIM:602471 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Reduced sperm motility, Proximal fe... |
OMIM:602271 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... |
ORPHA:93307 |
Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Bel... |
OMIM:260660 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... |
ORPHA:1106 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... |
ORPHA:1803 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Pes planus, Frontal encephalo... |
ORPHA:521308 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Long thumb |
OMIM:619151 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... |
ORPHA:1354 |
Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Irregular epiphyses, Posterior... |
OMIM:608728 |
Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... |
OMIM:223800 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Short palm, Flat acetabular ... |
OMIM:300106 |
Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Micromelia, C... |
ORPHA:474 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy... |
ORPHA:432 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Talipes equinovarus, ... |
ORPHA:2839 |
Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... |
OMIM:268305 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
Metatropic Dysplasia |
|
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical v... |
ORPHA:2635 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm... |
OMIM:249710 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Micromelia, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Hypertension And Brachydactyly Syndrome |
|
Type E brachydactyly, Short phalanx of finger, Short metacarpal, Cone-shaped epiphysis |
OMIM:112410 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
Limb-Mammary Syndrome |
|
Absent nipple, Toe syndactyly, Breast aplasia, Oligodactyly, Aplasia of the ovary, Aplasia of the... |
ORPHA:69085 |
Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici... |
OMIM:241080 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A... |
OMIM:132400 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
Kyphomelic Dysplasia |
|
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Micrognath... |
OMIM:211350 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Holt-Oram Syndrome |
|
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... |
OMIM:142900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Short femoral neck, Knee dislocation, Narrow vertebral interpedicular d... |
OMIM:618395 |
Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic acetabulae, ... |
OMIM:607326 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Narrow chest, Short tibia, Preaxial polydactyly, Hypoplastic pelvi... |
OMIM:616300 |
Ciliary Dyskinesia, Primary, 51 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... |
OMIM:620438 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... |
ORPHA:755 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... |
ORPHA:2790 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... |
ORPHA:1856 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
Estrogen Resistance |
|
Breast aplasia, Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, M... |
OMIM:184250 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
Laron Syndrome |
|
Delayed menarche, Limb undergrowth, Short long bone |
OMIM:262500 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Narrow palm, Hypogonadotropic hypogonadism, Short foot, Abnormal ulnar metaphysis mor... |
ORPHA:177910 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
Woodhouse-Sakati Syndrome |
|
Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulation test, S... |
ORPHA:3464 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... |
OMIM:278850 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped... |
ORPHA:420794 |
Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Clinodactyly, Enlarged labia minora, Micrognathia, Cryptorchidism, Abnormal... |
OMIM:268300 |
Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrh... |
ORPHA:785 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... |
OMIM:614524 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... |
OMIM:119100 |
Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma... |
ORPHA:392 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly |
ORPHA:2091 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
Thalidomide Embryopathy |
|
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... |
ORPHA:3312 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Finger aplasia, Aplasia of the ulna |
OMIM:276822 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Single transverse palmar crease |
OMIM:218550 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, H... |
ORPHA:2256 |
Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Septate va... |
ORPHA:1319 |
Atelosteogenesis, Type Iii |
|
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Sandal gap, Kn... |
OMIM:108721 |
Orofaciodigital Syndrome X |
|
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly |
OMIM:165590 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Limited pronation/supination of forearm, Radial bowing, Madelung deformity |
DECIPHER:58 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Short tibia, Preaxial polydactyly, Micrognathia, Horizontal ribs, Long thorax, Fibu... |
OMIM:617925 |
Radial Aplasia, X-Linked |
|
Penile hypospadias, Absent radius |
OMIM:312190 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... |
ORPHA:2319 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... |
ORPHA:90797 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
Boomerang Dysplasia |
|
Fibular aplasia, Hypoplastic iliac body, Absent radius |
OMIM:112310 |
Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas... |
ORPHA:2911 |
Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus, Rocker bottom foot, Micrognathia |
OMIM:616258 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Reduced arm span, Arthralgia of the hip, Abnormality o... |
ORPHA:166002 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Hip dislo... |
OMIM:146510 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly |
OMIM:600384 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... |
ORPHA:1988 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi... |
OMIM:263650 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... |
OMIM:250420 |
Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial polydactyly, Should... |
OMIM:607323 |
Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal humeral epiph... |
OMIM:222765 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scapulae, Narrow ... |
ORPHA:85166 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Platyspondyly, Radial bowing, Micromelia, Preaxial polydactyly, Vertebral wedging, Thoracic hypop... |
OMIM:617866 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... |
OMIM:602557 |
Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Multiple Osteochondromas |
|
Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo... |
ORPHA:321 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
ORPHA:90652 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar... |
OMIM:187601 |
Acromesomelic Dysplasia 1 |
|
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... |
OMIM:602875 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... |
OMIM:151210 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Preaxial polydactyly |
ORPHA:141333 |
Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Umbilical hernia,... |
OMIM:258315 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... |
OMIM:615633 |
Desbuquois Syndrome |
|
Genu recurvatum, Small hand, Patellar dislocation, Elbow dislocation, Camptodactyly of finger, Be... |
ORPHA:1425 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... |
OMIM:173800 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... |
ORPHA:3411 |
Diastrophic Dysplasia |
|
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Abnormal epiphysis morphol... |
ORPHA:628 |
Kinsship Syndrome |
|
Mesomelia, Cervical ribs, Sacral dimple, Micrognathia, Single transverse palmar crease, Polydacty... |
OMIM:619297 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... |
ORPHA:90796 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals |
OMIM:618724 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... |
ORPHA:93267 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Micrognathia, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, ... |
OMIM:154230 |
Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Joint contracture of the hand, Straight clavicles, Broad ribs, Fibular ap... |
OMIM:300373 |
Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Lumbar kyphosis in infancy, Fe... |
OMIM:100800 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o... |
OMIM:607143 |
Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Short thumb, Ectrodactyly, Elbow dislocation, Oligodactyly, Absent hand, Ameli... |
ORPHA:2538 |
Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, H... |
OMIM:119500 |
Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydac... |
OMIM:615986 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Postaxial polydactyly |
OMIM:615985 |
Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... |
OMIM:112350 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... |
ORPHA:3035 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Narrow iliac wing, Flared metaphysis, Equinovarus deformity, Short long bone, Aplasia/Hypoplasia ... |
ORPHA:2502 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hand polydactyly, Proximal placement of thumb, Short humerus, Absent radius |
OMIM:314390 |
3M Syndrome |
|
Thin ribs, Decreased fertility, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increas... |
ORPHA:2616 |
Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis... |
OMIM:620662 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact... |
OMIM:154400 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Ulnar Hypoplasia With Impaired Intellectual Development |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement |
OMIM:276821 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Cone-shaped epiphysis, Short long bone, Short foot, Short phal... |
OMIM:102370 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... |
OMIM:602418 |
Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... |
OMIM:620076 |
Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis |
OMIM:156232 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Rhizomelia, Narrow chest, Short toe, Clinodactyly, Radial deviati... |
OMIM:218330 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... |
OMIM:277170 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Oligodactyly, Clinodactyly of the 5th finger, Short foot, Umbilical hernia |
OMIM:619758 |
Holzgreve Syndrome |
|
Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morph... |
ORPHA:2167 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... |
OMIM:271665 |
Becker Nevus Syndrome |
|
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern... |
ORPHA:64755 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Hip dislocation, Flared metaphysis, Genu va... |
OMIM:309350 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Tetraamelia Syndrome 1 |
|
Absent external genitalia, Hypoplastic pelvis, Micrognathia, Adrenal gland agenesis, Tetraamelia,... |
OMIM:273395 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel... |
ORPHA:440354 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con... |
OMIM:210720 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Female infertility, Male infertility, Ambiguous genitalia, femal... |
ORPHA:91 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Polydactyly |
OMIM:615993 |
Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh... |
OMIM:600373 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... |
OMIM:251450 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia |
OMIM:193670 |
Autosomal Recessive Omodysplasia |
|
Rhizomelia, Micromelia, Elbow dislocation, Abnormal femur morphology, Micrognathia, Abnormal morp... |
ORPHA:93329 |
Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... |
ORPHA:83468 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
Oslam Syndrome |
|
Radioulnar synostosis, Radial deviation of finger, Clinodactyly |
OMIM:165660 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... |
OMIM:300863 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas |
ORPHA:145 |
2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... |
ORPHA:251014 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco... |
OMIM:259440 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... |
ORPHA:93352 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... |
OMIM:200600 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Male infertility, Cryptorchidism, Absent radius, Hypergonadotropic hyp... |
OMIM:227650 |
Nievergelt Syndrome |
|
Genu valgum, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal synostosis, ... |
OMIM:163400 |
Camptobrachydactyly |
|
Short toe, Septate vagina, Hand polydactyly, Brachydactyly, Congenital finger flexion contracture... |
OMIM:114150 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:2631 |
Panner Disease |
|
Limited elbow extension, Abnormality of upper limb joint, Limited elbow movement, Irregular artic... |
ORPHA:97336 |
Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... |
OMIM:620103 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Hypoplasia of t... |
ORPHA:2249 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Short distal phalanx of finger, Hypoplasia... |
OMIM:615866 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
Hypomelia With Mullerian Duct Anomalies |
|
Split hand, Uterus didelphys, Longitudinal vaginal septum, Postaxial hand polydactyly |
OMIM:146160 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... |
ORPHA:3082 |
Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
Martsolf Syndrome 1 |
|
Pectus carinatum, Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Avascular necrosis... |
OMIM:212720 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Nonopposable triphalangeal thumb, Hypospadias, Hypoplasia of the radius |
OMIM:179250 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... |
OMIM:253000 |
Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Finger clinodactyly, Camptodactyly of finger, Elbo... |
ORPHA:3250 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Hypoplastic sacrum, Micrognathia, Aplasia of the uterus, Absent radius, Micropenis,... |
OMIM:614083 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... |
OMIM:187600 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Dry skin, Short humerus, Brachydactyly, Short metacarpal |
ORPHA:508542 |
Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... |
ORPHA:2438 |
Pallister-Hall Syndrome |
|
Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopituitarism, Pol... |
ORPHA:672 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short stepped shuffling gait, Broad thumb, Short thumb, Interphalangeal joint contracture of fing... |
OMIM:151200 |
Achondrogenesis Type 1B |
|
Narrow chest, Micromelia, Abnormal rib morphology, Umbilical hernia, Micrognathia, Talipes equino... |
ORPHA:93298 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies, Male hypogonadism, Hypergonadotropic h... |
OMIM:307500 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat... |
OMIM:300232 |
Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... |
ORPHA:93333 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, ... |
OMIM:618419 |
Hand-Foot-Genital Syndrome |
|
Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho... |
OMIM:140000 |
Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... |
ORPHA:2876 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Brachydactyly, Short phalanx of finger, Coxa valga |
OMIM:132450 |
Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Bilateral single tra... |
ORPHA:199 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ... |
ORPHA:429 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Long metacarpals, Hypoplastic scapulae, Joint contracture of the hand, Long hallux, Mi... |
OMIM:600920 |
Baller-Gerold Syndrome |
|
Radial deviation of the hand, Absent thumb, Forearm undergrowth, Patellar hypoplasia, Carpal syno... |
OMIM:218600 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Postaxial polydactyly, Y-sh... |
OMIM:615996 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Lumba... |
OMIM:169550 |
Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypogonadism, Decrea... |
ORPHA:2234 |
Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul... |
OMIM:212780 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Bowing of the long bones, Short humerus, Lateral femoral bowing |
OMIM:239000 |
Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the... |
OMIM:614900 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... |
ORPHA:2021 |
Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... |
OMIM:617926 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia |
ORPHA:2252 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu... |
ORPHA:90793 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Abnormal foot morphology, Micro... |
OMIM:263750 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Short long bone |
ORPHA:1423 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Cryptorchidism, Absent radius, Hypergonadotropic hypogonadism, Complet... |
OMIM:600901 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s... |
ORPHA:93317 |
Fanconi Anemia, Complementation Group B |
|
Bilateral radial aplasia, Absent thumb, Hypogonadism, Micropenis, Hypergonadotropic hypogonadism |
OMIM:300514 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ... |
ORPHA:1797 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Micrognathia, Limited elbow extension, Irregular epiphyses of the metacar... |
OMIM:614078 |
Image Syndrome |
|
Hypogonadism, Micromelia, Metaphyseal dysplasia |
ORPHA:85173 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... |
ORPHA:1427 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostos... |
ORPHA:3404 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Anisospondyly, Narrow chest, Abnormal rib morpho... |
ORPHA:2484 |
Catel-Manzke Syndrome |
|
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro... |
OMIM:616145 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility |
OMIM:108420 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Femoral-Facial Syndrome |
|
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Absent vertebra, Preaxial hand po... |
OMIM:134780 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Postaxial hand polydactyly |
ORPHA:2155 |
Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly,... |
OMIM:615994 |
46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Non-obstructive azoosp... |
OMIM:618086 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Cryptorchidism,... |
OMIM:619135 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone |
OMIM:619479 |
Smith-Mccort Dysplasia 2 |
|
Hypoplasia of the odontoid process, Broad femoral neck, Enlarged interphalangeal joints, Genu val... |
OMIM:615222 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Micrognat... |
ORPHA:2097 |
Ruvalcaba Syndrome |
|
Small hand, Micromelia, Limited elbow extension, Short foot, Short metatarsal, Short phalanx of f... |
OMIM:180870 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Delayed epiphyseal ossification, Elbow dislocation, Dry skin, Micrognathia, ... |
OMIM:210710 |
Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta... |
OMIM:617895 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... |
OMIM:143095 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration, Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... |
OMIM:166210 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Achondrogenesis Type 1A |
|
Narrow chest, Micromelia, Umbilical hernia, Micrognathia, Multiple rib fractures, Short neck, Sho... |
ORPHA:93299 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Abnormal rib m... |
ORPHA:2311 |
Camurati-Engelmann Disease |
|
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Abnormality of the vert... |
ORPHA:1328 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Tapered finger, Short humerus, Short femur |
OMIM:618367 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... |
ORPHA:85167 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... |
OMIM:122600 |
Meckel Syndrome, Type 9 |
|
Talipes equinovarus, Limb undergrowth |
OMIM:614209 |
White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi... |
ORPHA:2475 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Polydactyly, Unsteady gait, Dystonia, Choreoathetosis, Short femur |
ORPHA:17 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Abnormal rib morphology, Spinal c... |
ORPHA:582 |
Jackson-Weiss Syndrome |
|
Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3... |
ORPHA:1540 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs, Rhizomelia, Metaphyseal cupping of metacarpals, Abnormality of the calc... |
ORPHA:163966 |
Mosaic Trisomy 14 |
|
Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Bilateral single trans... |
ORPHA:1703 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... |
OMIM:606895 |
Lumbar Syndrome |
|
Bifid scrotum, Myelomeningocele, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, M... |
ORPHA:83628 |
Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Microretrognathia, Micrognathia, Bowing of t... |
OMIM:619879 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... |
ORPHA:570 |
Atelosteogenesis, Type Ii |
|
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath... |
OMIM:256050 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordos... |
ORPHA:2522 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Talipes equinovalgus, Abn... |
ORPHA:1120 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... |
ORPHA:572333 |
Laurence-Moon Syndrome |
|
Abnormality of the hand, Polydactyly |
OMIM:245800 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Anterior encephalocele, Scoliosis, Short femur |
OMIM:601357 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly of finger, Th... |
OMIM:612350 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Atelosteogenesis Type I |
|
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified verteb... |
ORPHA:1190 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Femoral bowing, G... |
OMIM:600785 |
Fibrous Dysplasia Of Bone |
|
Lower limb asymmetry, Abnormal clavicle morphology, Abnormal rib morphology, Abnormal tibia morph... |
ORPHA:249 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Cryptorchidism, Absent radius, Hypergonadotropic hypogonadism, Complet... |
OMIM:227645 |
Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity |
ORPHA:1765 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... |
OMIM:258860 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius |
OMIM:602200 |
Acrocephalopolydactyly |
|
Limb undergrowth, Brachydactyly, Short long bone |
ORPHA:221054 |
Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... |
OMIM:215140 |
Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Constricted iliac wing, Cervical myelopathy, Hypoplasia of the odontoid process, H... |
OMIM:253010 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... |
OMIM:618022 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Hypoplasia of the radius,... |
OMIM:613390 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... |
ORPHA:2180 |
Odontochondrodysplasia 1 |
|
Mesomelia, Metaphyseal cupping, Micromelia, Irregular epiphyses, Cone-shaped epiphyses of the pha... |
OMIM:184260 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger |
OMIM:607131 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... |
OMIM:146255 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Absent thumb, Short thumb, Preaxial hand polydactyly, Cryptorchidism, Partial d... |
OMIM:227646 |
Occipital Horn Syndrome |
|
Genu valgum, Limited elbow extension, Redundant skin, Short humerus, Short clavicles, Capitate-ha... |
OMIM:304150 |
Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... |
ORPHA:2347 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Bulging epiphyses, Bulging of the costochondral junction, Fibula... |
OMIM:600081 |
Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility |
OMIM:617091 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal form of the vertebral bodies, Slender long bone, Abnormal hip bone morphology, Micrognat... |
ORPHA:1486 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Single transverse palmar crease, Ovotestis, Chordee, Micropenis, Hypoplasia... |
OMIM:309801 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... |
OMIM:118100 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Rhizomelia, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Femor... |
OMIM:608940 |
Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Thin ribs, Rhizomelia, Narrow chest, Micromelia, Thoracic hypoplasia, Broad ribs, ... |
OMIM:613848 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Spermatogenic Failure 14 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... |
OMIM:615842 |
Meckel Syndrome, Type 3 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:607361 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... |
OMIM:601356 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology |
ORPHA:2643 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Infertility, Male hypogonadism |
OMIM:240950 |
Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Mietens Syndrome |
|
Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,... |
ORPHA:2557 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, Aplasia/Hypoplasia involving bones of the ... |
ORPHA:1521 |
Dysosteosclerosis |
|
Short diaphyses, Platyspondyly, Narrow chest, Broad femoral neck, Absent paranasal sinuses, Flare... |
OMIM:224300 |
Distal Duplication 5Q |
|
Absent thumb, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Brachydactyly,... |
ORPHA:96097 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... |
ORPHA:1452 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Long palm, Arachnodactyly, Missing ribs, Hemivertebrae, Ab... |
ORPHA:2759 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Hypoplasia of proximal radius, Micrognathia, Fibular h... |
ORPHA:444077 |
Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Broad phalanx, Bila... |
ORPHA:56304 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl... |
ORPHA:1352 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Rhizomelia, Microretrognathia, Narrow chest, Bowing of the long bones, Multiple ri... |
OMIM:616229 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Abnormal sperm head morphology, Reduced sperm motility |
ORPHA:320391 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Bowing of ... |
OMIM:617952 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Spinal can... |
OMIM:307800 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Carpal synostosis, Cryptorchi... |
OMIM:201750 |
Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
Classic Galactosemia |
|
Ataxia, Postural tremor, Gait imbalance, Action tremor, Decreased fertility in females, Oligomeno... |
ORPHA:79239 |
Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
Marshall Syndrome |
|
Platyspondyly, Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the ... |
OMIM:154780 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Supernumerary ribs, Pes planus, Scapular winging, Six lumbar vertebrae, Pectus exca... |
OMIM:619122 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly |
OMIM:615989 |
Radial-Renal Syndrome |
|
Absent thumb, Absent radius |
OMIM:179280 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi... |
OMIM:614091 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... |
OMIM:271640 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodactyly |
OMIM:614815 |
Mycetoma |
|
Structural foot deformity, Abnormal forearm bone morphology, Abnormal form of the vertebral bodie... |
ORPHA:2583 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Abnormal foot morphology, Short tubular bones of the hand, Hypoplastic iliac w... |
OMIM:200610 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular necrosis of th... |
OMIM:190351 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Abnormal rib morphology |
ORPHA:2145 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Micrognathia, Bowing of the long bones, Abnormal rib morph... |
ORPHA:2050 |
Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Slender metacarpals, Micrognathia, Ovo... |
OMIM:620601 |
Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... |
ORPHA:2307 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Missing ribs, Abnormal r... |
ORPHA:1488 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Hypophosphatasia |
|
Bowing of the long bones, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology |
ORPHA:436 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... |
OMIM:268310 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Brachydactyly, Syndactyly |
OMIM:616589 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca... |
OMIM:617247 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:613807 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, Chordee, Abnormal intern... |
ORPHA:1772 |
Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Deep plantar crea... |
ORPHA:1517 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, Metaphyseal wi... |
OMIM:618961 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Clubbing, Male infertility |
ORPHA:244 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
47,Xyy Syndrome |
|
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulat... |
ORPHA:8 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Femoral retroversion, Scoliosis, Kyphosis |
ORPHA:79107 |
Three M Syndrome 2 |
|
Short 5th finger, Thin ribs, Pectus carinatum, Clinodactyly, Slender long bone, Lumbar hyperlordo... |
OMIM:612921 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation |
ORPHA:1508 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... |
OMIM:602080 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Stenosis of the medullary cavity of the long bones, Cortical thickening of... |
ORPHA:93324 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Unilateral radial aplasia, Partial absence of thumb, Micrognathia, 2-3 toe syndactyly, Abnormalit... |
ORPHA:476126 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic ilia, Clinodactyly, Slender long bone, Premature skin wrinkling, Dry skin, Micrognath... |
OMIM:264090 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Reduced sperm motility |
OMIM:615500 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Cryptorchidism, H... |
ORPHA:84 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Azoospermia, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2578 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Thin ribs, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bowi... |
OMIM:610915 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Syndactyly |
OMIM:602501 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... |
ORPHA:73230 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Finger s... |
ORPHA:1512 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Micrognathi... |
ORPHA:3429 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism |
OMIM:601186 |
Oeis Complex |
|
Congenital hip dislocation, Absence of the sacrum, Myelomeningocele, Ambiguous genitalia, female,... |
OMIM:258040 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas deferens, Epididymal cyst, Reduced sperm m... |
OMIM:137920 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Polydactyly, Dysmenorrhea, Clinodactyly of the 5th finger, Syndac... |
ORPHA:397590 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... |
OMIM:613686 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul... |
OMIM:301077 |
Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph... |
ORPHA:79345 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes,... |
OMIM:601559 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... |
ORPHA:85184 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, 10 pairs o... |
OMIM:117650 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Decreased fertility, Vertebral segmentation defect, Talipes equinovar... |
ORPHA:2970 |
Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Chordee, Bro... |
OMIM:166250 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... |
OMIM:618142 |
Al-Gazali Syndrome |
|
Broad distal phalanx of finger, Micrognathia, Bowed humerus, Wrist flexion contracture, Bilateral... |
OMIM:609465 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
Spermatogenic Failure 13 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... |
OMIM:615841 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Narrow chest, Narrow pelvis bone, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnod... |
OMIM:207410 |
Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... |
OMIM:192350 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Abnormal hip bone morphology, Hypogonadotropic hypogonadism, Hyperlordosis, Abn... |
ORPHA:3068 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Slender long bone, Micrognathia, Biconcave vertebral bodies, Tibial bowing, Scoliosis,... |
OMIM:259420 |
Ciliary Dyskinesia, Primary, 12 |
|
Immotile sperm, Reduced sperm motility |
OMIM:612650 |
Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Absence of the sacrum, Sirenomelia, Ambiguous genitalia, Spina ... |
ORPHA:3169 |
Campomelia, Cumming Type |
|
Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly... |
ORPHA:1318 |
Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Hypoplastic ilia, Camptodactyly of finger, Premature skin wrinkling, Action tremor, Short... |
ORPHA:3455 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
20P13 Microdeletion Syndrome |
|
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly |
ORPHA:313781 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Short toe, Rhizo-meso-acromelic limb shortening, Tapered phalanx... |
OMIM:611717 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Bifid scrotum, Abno... |
ORPHA:887 |
Postaxial Acrofacial Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Hypoplasia of the... |
ORPHA:246 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
Ciliary Dyskinesia, Primary, 18 |
|
Immotile sperm, Male infertility |
OMIM:614874 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... |
OMIM:619721 |
Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po... |
OMIM:614175 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormal epiphysis morphology, Epiphyseal stippling, Limb undergrowth, Abnormal metap... |
ORPHA:177 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... |
OMIM:225500 |
Radio-Renal Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Micrognathia, Short neck, Hypoplasia of the ra... |
ORPHA:3015 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
Xylt1-Cdg |
|
Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Pes planus, Short long... |
ORPHA:370930 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the uterus, Hip dysplasia,... |
ORPHA:457284 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Palmar pits, Plantar pits, Vertebral wedging, Abnormal rib morphol... |
ORPHA:377 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
ORPHA:357175 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... |
OMIM:615503 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod... |
ORPHA:85165 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Madelung deformity, Limb undergrowth, Primary amenorrhea, Clinodactyly of the 5th finger, Hip dys... |
ORPHA:319675 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... |
ORPHA:90794 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
Alagille Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Cryptorchidism, Hyp... |
ORPHA:52 |
Duane Retraction Syndrome |
|
Preaxial hand polydactyly, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Tr... |
ORPHA:233 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis |
OMIM:607371 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Abnormal sternum... |
OMIM:109400 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Hypoplastic scapulae, Clinodactyly, Decreased fertility, Humerorad... |
ORPHA:95699 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Primary amenorrhea, Dislocated rad... |
ORPHA:2975 |
Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly, Short 4th metaca... |
OMIM:169400 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... |
OMIM:252600 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Slender long bone, Long clavicles, Short foot, Thin clavicles, Short palm |
OMIM:244460 |
Kallmann Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypoplasia, D... |
ORPHA:478 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Short thumb, Lacrimal gland hypoplasia, Preaxial polydactyly, Abs... |
OMIM:149730 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Clinodactyly |
OMIM:615162 |
Joubert Syndrome 15 |
|
Preaxial polydactyly |
OMIM:614464 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Split hand, Phocomelia |
ORPHA:3004 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Trident hand, Limited elbow extension, Narrow greater sciati... |
ORPHA:15 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of... |
OMIM:308050 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Platyspondyly, Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpa... |
OMIM:610442 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Sho... |
OMIM:215150 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Broad ribs, Genu valgum, Short neck, Abnormal metaphysis morphology, Kyphos... |
ORPHA:583 |
Sclerosteosis 1 |
|
Irregular menstruation, Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of fin... |
OMIM:269500 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly |
OMIM:603194 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Polydactyly |
OMIM:613885 |
Joubert Syndrome 7 |
|
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly |
OMIM:611560 |
Oslam Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger |
ORPHA:2760 |
Chromosome 17Q12 Deletion Syndrome |
|
Upper limb undergrowth, Micrognathia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasi... |
OMIM:614527 |
Craniometadiaphyseal Dysplasia |
|
Absent paranasal sinuses, Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Cubitus v... |
OMIM:269300 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... |
OMIM:263520 |
X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m... |
ORPHA:89936 |
Renpenning Syndrome |
|
Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Mesomelia-Synostoses Syndrome |
|
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr... |
OMIM:600383 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the radius, Female pseudohermaphroditism, Displacement of the urethral meat... |
ORPHA:2973 |
W Syndrome |
|
Radial bowing, Clinodactyly, Elbow dislocation, Cubitus valgus, Hypoplasia of the ulna, Metatarsu... |
ORPHA:2804 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Ectrodactyly, ... |
ORPHA:2273 |
3Q29 Microdeletion Syndrome |
|
Pectus carinatum, Six lumbar vertebrae, Clinodactyly of the 5th finger, Pectus excavatum, Tapered... |
ORPHA:65286 |
Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Cubitus valgus, Short neck, D... |
ORPHA:1340 |
Peters-Plus Syndrome |
|
Square pelvis bone, Micrognathia, Cryptorchidism, Limited elbow movement, Hypoplastic labia major... |
OMIM:261540 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Bowing of the ar... |
OMIM:269860 |
Townes-Brocks Syndrome 1 |
|
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Rectoperineal fistula, Rectova... |
OMIM:107480 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
Roberts Syndrome |
|
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism... |
ORPHA:3103 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal rib morphology, E... |
ORPHA:2769 |
Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Talipes, Elbow ankylosis, ... |
ORPHA:83 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Anen... |
OMIM:236680 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility |
OMIM:612649 |
Pyknoachondrogenesis |
|
Unossified sacrum, Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic bon... |
ORPHA:3003 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Finger aplasia, Hip dislocation, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, ... |
OMIM:620663 |
Charge Syndrome |
|
Micrognathia, Cryptorchidism, Absent radius, Hypoparathyroidism, Bilateral talipes equinovarus, H... |
OMIM:214800 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter... |
ORPHA:2237 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Broad ribs, Overlapping fingers, Micrognathia, Femoral bowing, Thoracic scoliosis, ... |
OMIM:617022 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... |
ORPHA:99228 |
Monosomy X |
|
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... |
ORPHA:99226 |
Turner Syndrome |
|
Genu valgum, Micrognathia, Short neck, Pes planus, Splayed toes, Primary amenorrhea, Premature ov... |
ORPHA:881 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility |
OMIM:615444 |
Rothmund-Thomson Syndrome Type 1 |
|
Patellar hypoplasia, Hypogonadism, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasi... |
ORPHA:221008 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talip... |
OMIM:265000 |
Houge-Janssens Syndrome 2 |
|
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia |
OMIM:616362 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm |
OMIM:613808 |
Mosaic Trisomy 8 |
|
Narrow chest, Deep plantar creases, Camptodactyly of finger, Micrognathia, Patellar aplasia, Vert... |
ORPHA:96061 |
Cloacal Exstrophy |
|
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Abnormal fallopian tube morphol... |
ORPHA:93929 |
Cardioacrofacial Dysplasia 2 |
|
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... |
OMIM:619143 |
Suleiman-El-Hattab Syndrome |
|
Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly |
OMIM:618950 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Pectus carinatum, Cervical myelopathy, Hypoplasia of the odontoid process, ... |
OMIM:253200 |
3P25.3 Microdeletion Syndrome |
|
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni... |
ORPHA:435638 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Toe syndactyly, Joint contracture of the hand, Finger syndactyly, Clinodactyly, ... |
OMIM:256520 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Genu recurvatum, Pectus carinatum, Narrow chest, Flared metaphysis, Talipes equinovalgus, Microgn... |
OMIM:130070 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
Peters Plus Syndrome |
|
Rhizomelia, Toe syndactyly, Short toe, Micromelia, Umbilical hernia, Clinodactyly of the 5th fing... |
ORPHA:709 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia, Abnormal rib morphology |
ORPHA:2772 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Talipes, Missing r... |
ORPHA:1647 |
Occipital Horn Syndrome |
|
Aplastic clavicle, Avascular necrosis of the capital femoral epiphysis, Humerus varus, Genu valgu... |
ORPHA:198 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar... |
ORPHA:2215 |
Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Bila... |
ORPHA:3378 |
Renal Agenesis, Bilateral |
|
Sirenomelia, Abnormal morphology of female internal genitalia |
ORPHA:1848 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Vert... |
ORPHA:1834 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... |
ORPHA:1422 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,... |
OMIM:272460 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology |
ORPHA:280195 |
C Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... |
OMIM:211750 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Cryptorchidism, Abnormal fallopian tube morphology, Hypoplas... |
ORPHA:3412 |
Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... |
ORPHA:356961 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Postaxial polydactyly, Overlapping toe, Tapered finger |
OMIM:613792 |
Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... |
ORPHA:322 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi... |
ORPHA:1826 |
Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Micrognathia, Hip contracture, Bowing of the long bones, Talipes ... |
ORPHA:800 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long bones, Short... |
ORPHA:488434 |
Rothmund-Thomson Syndrome |
|
Aplasia/Hypoplasia of the radius, Short thumb, Infertility, Aplasia/Hypoplasia of the patella, Me... |
ORPHA:2909 |
Rhombencephalosynapsis |
|
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly |
ORPHA:59315 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... |
ORPHA:2519 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Toe syndactyly, Labial hypoplasia, Hypoplasia of the radius, Clinodactyly o... |
ORPHA:140952 |
Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... |
OMIM:612651 |
Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Palmoplantar keratoderma, Adenoma sebaceum, Abnormal hip bone morphology, Abnormal morphology of ... |
ORPHA:3353 |
Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Micrognathia, Cryptorchidism, Aplasia of ... |
ORPHA:284339 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Pectus excavatum, Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... |
ORPHA:330015 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic ilia, Micromelia, Broad long bones, Bowing of the legs, Micrognathia, Short ribs, Tal... |
ORPHA:1865 |
Culler-Jones Syndrome |
|
Hypogonadism, Postaxial polydactyly |
OMIM:615849 |
Aspartylglucosaminuria |
|
Abnormal vertebral morphology, Pectus carinatum, Umbilical hernia, Abnormal morphology of ulna, P... |
ORPHA:93 |
Rothmund-Thomson Syndrome Type 2 |
|
Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasia, Aplasia/hyp... |
ORPHA:221016 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm |
OMIM:242670 |
Cat Eye Syndrome |
|
Absent radius, Micrognathia, Umbilical hernia |
OMIM:115470 |
Osteogenesis Imperfecta, Type Xvii |
|
Thin metacarpal cortices, Bowed humerus, Hip dislocation, Thin long bone diaphyses |
OMIM:616507 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:531151 |
Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... |
OMIM:184705 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Finger syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Undu... |
OMIM:618188 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Postaxia... |
OMIM:619471 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Ambiguous genitalia, Pe... |
OMIM:618280 |
Trisomy 1Q |
|
Toe syndactyly, Microretrognathia, Abnormal rib morphology, Camptodactyly of finger, Preaxial han... |
ORPHA:261344 |
Tarp Syndrome |
|
Clinodactyly, Single transverse palmar crease, Postaxial polydactyly, Talipes equinovarus, Short ... |
OMIM:311900 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow... |
OMIM:151050 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor... |
ORPHA:93473 |
Pagod Syndrome |
|
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Female pseudohermaph... |
ORPHA:991 |
Loeys-Dietz Syndrome |
|
Arachnodactyly, Micrognathia, Uterine rupture, Camptodactyly of finger |
ORPHA:60030 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac... |
ORPHA:404440 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Myhre Syndrome |
|
Platyspondyly, Abnormal epiphysis morphology, Hypogonadism, Abnormal metaphysis morphology, Brach... |
ORPHA:2588 |
Orofaciodigital Syndrome Type 6 |
|
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... |
ORPHA:2754 |
Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Micrognathia, Bow... |
ORPHA:666 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Broad foot, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, Short greater sci... |
OMIM:312870 |
Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida |
OMIM:193500 |
Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Narrow chest, Micromelia, Crumpled long bones, Multiple rib fractures, Femoral retrov... |
OMIM:610682 |
Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Hypogonadism, Postaxial polydactyly, Brac... |
OMIM:209900 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Pseudoepiphyses of the metacarpals, Short thumb, Preaxial hand polydactyly, P... |
OMIM:194190 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Sh... |
OMIM:305600 |
Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Absent gallbladder, Encephalocele, A... |
ORPHA:1335 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Micrognathia, Missing ribs, Abnormal rib morphology, Tet... |
ORPHA:3301 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Joubert Syndrome 37 |
|
Postaxial polydactyly |
OMIM:619185 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly |
OMIM:614099 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperextensibility, Cr... |
OMIM:130050 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Prominent fingertip pads, Sandal gap, Umbilical hernia, Clinodactyly of the... |
OMIM:135900 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Joubert Syndrome 39 |
|
Postaxial polydactyly, Joint contracture of the 5th finger |
OMIM:619562 |
Cog1-Cdg |
|
Posterior rib gap, Rhizomelia, Micrognathia, Butterfly vertebrae, Vertebral segmentation defect, ... |
ORPHA:263508 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... |
OMIM:302960 |
Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal long bone morphology, Abnormal rib morphology |
ORPHA:1163 |
Monosomy 9Q22.3 |
|
Palmar pits, Plantar pits, Abnormality of the vertebral column, Umbilical hernia, Polydactyly, Sh... |
ORPHA:77301 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact... |
ORPHA:373 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly |
OMIM:603387 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna |
OMIM:615398 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Hip dysplasia |
OMIM:614576 |
Pseudoaminopterin Syndrome |
|
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... |
ORPHA:221120 |
Orofaciodigital Syndrome V |
|
Postaxial polydactyly, Postaxial foot polydactyly, Sandal gap, Postaxial hand polydactyly |
OMIM:174300 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... |
ORPHA:85450 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Abno... |
ORPHA:397715 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
Adnp Syndrome |
|
Broad thumb, Sandal gap, Broad hallux, Single transverse palmar crease, Polydactyly, 2-3 toe synd... |
ORPHA:404448 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Short ribs, Postaxial polydactyly, Short cl... |
OMIM:617088 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia o... |
ORPHA:3186 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Short palm, Short foot, ... |
ORPHA:93357 |
Tarp Syndrome |
|
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... |
ORPHA:2886 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger |
OMIM:300968 |
Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... |
OMIM:247200 |
Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... |
ORPHA:818 |
Congenital Sialidosis Type 2 |
|
Polydactyly |
ORPHA:93400 |
Trisomy 18 |
|
Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnorma... |
ORPHA:3380 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Long fingers |
OMIM:300960 |
3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... |
OMIM:617527 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Talipes equinovarus, Short tibia, Short femur |
OMIM:620306 |
Noonan Syndrome 1 |
|
Radial deviation of finger, Clinodactyly, Abnormal sternum morphology, Hypogonadism, Micrognathia... |
OMIM:163950 |
Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac... |
ORPHA:2554 |
Okamoto Syndrome |
|
Bifid uterus, Hip dysplasia, Polydactyly |
ORPHA:2729 |
Joubert Syndrome 14 |
|
Postaxial polydactyly |
OMIM:614424 |
Orofaciodigital Syndrome I |
|
Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2nd toe, Syndactyly |
OMIM:311200 |
Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal... |
OMIM:216340 |
Monosomy 9P |
|
Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the tarsal bones, Mi... |
ORPHA:261112 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Toe syndactyly, Polydactyly, Arachnodactyly, Hallux valgus, Clinodactyly of the 5th finger, Acrom... |
ORPHA:464306 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... |
ORPHA:2907 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly |
OMIM:616546 |
Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd... |
OMIM:615873 |
Carpenter Syndrome 2 |
|
Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral postaxial polydactyly, ... |
OMIM:614976 |
Pallister-Killian Syndrome |
|
Small scrotum, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathia, Crypto... |
OMIM:601803 |
Legius Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly |
ORPHA:137605 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent frontal sinuses, Male infertility |
OMIM:244400 |
Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th... |
OMIM:180849 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Umb... |
ORPHA:581 |
Tetrasomy 9P |
|
Small hand, Hypoplastic scapulae, Umbilical hernia, Infertility, Micrognathia, Bilateral single t... |
ORPHA:3310 |
Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd... |
OMIM:613610 |
Faciocardiomelic Syndrome |
|
Hypoplastic pelvis, Slender long bone, Polydactyly |
OMIM:612731 |
Townes-Brocks Syndrome |
|
Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd... |
ORPHA:857 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology, Hypogonadotropic hypogonadism, Amenorrhea, Infertility |
ORPHA:95494 |
Norrie Disease |
|
Erectile dysfunction, Uterine rupture, Cryptorchidism |
ORPHA:649 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Deep palmar crease, Hip dysplasia, Clinodactyly of the 5t... |
OMIM:616580 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... |
OMIM:603671 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, 2-4 toe cutaneous syndactyly, Polydactyly, Chordee, Hallux valgus, Abnormal toe mo... |
ORPHA:268261 |
Alstrom Syndrome |
|
Irregular menstruation, Hypergonadotropic hypogonadism, Polydactyly |
OMIM:203800 |
Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Bo... |
OMIM:249000 |
Kindler Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short... |
ORPHA:2908 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology, Abnormal foot morphology |
ORPHA:1666 |
Microphthalmia, Syndromic 6 |
|
Toe syndactyly, Finger syndactyly, Thumb contracture, Clinodactyly of the 5th finger, Single tran... |
OMIM:607932 |
Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
Cystic Fibrosis |
|
Male infertility, Clubbing of fingers |
OMIM:219700 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal rib morphology, A... |
ORPHA:667 |
Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Abnormal epiphysis morphology, Kyphosis, Abnormal rib morphology, Umbilical hernia... |
ORPHA:534 |
Rabson-Mendenhall Syndrome |
|
Polydactyly |
ORPHA:769 |
Charge Syndrome |
|
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Polydactyly, Talipes, Hypogonadotropic ... |
ORPHA:138 |
Degcags Syndrome |
|
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov... |
OMIM:619488 |
Neurocardiofaciodigital Syndrome |
|
Polydactyly, Syndactyly |
OMIM:619869 |
Stromme Syndrome |
|
Preaxial polydactyly |
OMIM:243605 |
Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Clinodactyly |
OMIM:618460 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ... |
OMIM:118450 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Postaxial hand polydactyly |
OMIM:605627 |
Bardet-Biedl Syndrome |
|
Irregular menstruation, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hypogonadism... |
ORPHA:110 |
Cystic Fibrosis |
|
Absent vas deferens, Male infertility |
ORPHA:586 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... |
ORPHA:353277 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly |
OMIM:301022 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Uterine rupture, Umbilical hernia, Cystocele, Cryptorchidism, Uterine... |
ORPHA:286 |
Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... |
ORPHA:2052 |
Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post... |
OMIM:610168 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia |
ORPHA:352665 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, C... |
ORPHA:480880 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Postaxial hand polydactyly, Camptodac... |
OMIM:609192 |
Carney Complex |
|
Abnormal sperm motility, Decreased fertility in males, Oligozoospermia |
ORPHA:1359 |
Orofaciodigital Syndrome Xiv |
|
Preaxial polydactyly, Broad hallux, Postaxial hand polydactyly |
OMIM:615948 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad thumb, Polydactyly, Broad first metatarsal, Postaxial polydactyly, Syndactyly |
OMIM:619534 |