| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| 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 |
| 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 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| 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 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morphology, Clavicular sclero... |
ORPHA:2790 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Aplasia of the ovary |
OMIM:614324 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus |
OMIM:610947 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoglycemia, Cryp... |
OMIM:607143 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Abnormal rib morpholo... |
ORPHA:2635 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Grant Syndrome |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyperflexibility, Narrow chest,... |
ORPHA:2097 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hyperactivity, Diabetes mellitus, Cryptorchidism, Short metatarsal, Advanced os... |
OMIM:614613 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnorma... |
ORPHA:1988 |
| Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffness, Short thorax, Limitat... |
ORPHA:1801 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Pectus carinatum... |
OMIM:259440 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Ck Syndrome |
|
Hyperactivity, Micrognathia, Aggressive behavior, Abnormal digit morphology, Abnormal cortical bo... |
OMIM:300831 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac ... |
OMIM:616300 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow ch... |
OMIM:615633 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Achondrogenesis Type 1B |
|
Femoral hernia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow c... |
ORPHA:93298 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Hypoglycemia, Decreased fertility in females, ... |
ORPHA:79239 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
| Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Cryptorchidism, Abnormal rib morphology, Narrow chest, Failure to thrive |
ORPHA:1703 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility, Decreased c... |
ORPHA:2772 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Abnormal rib morphology, Narrow chest, Decreased skull... |
ORPHA:93267 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Micrognathia, Insulin resistance, Osteopo... |
ORPHA:73272 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Recurrent fractures, Abnormal enchondral ossification, Sh... |
ORPHA:93299 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t... |
OMIM:609441 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... |
ORPHA:3035 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wi... |
ORPHA:96334 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1488 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Contracture of the proximal interphalangeal joint o... |
OMIM:609813 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormal rib morphology, Decreased fertility, Obesity, Hypogonadism, Decreased... |
ORPHA:2234 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foo... |
OMIM:603671 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Flaring of lower rib cage, Cupped... |
ORPHA:168549 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Abnormal rib morphology, Osteoporosis, Pectus carin... |
ORPHA:93351 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Abnormal repetitiv... |
OMIM:600430 |
| Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Nar... |
ORPHA:436 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Increased bone mineral density, Camptodactyly of finger, Joint stif... |
ORPHA:628 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... |
OMIM:110100 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal rib morphology, Recurrent fractures, Limitation of jo... |
ORPHA:1486 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Micrognathia, Decreased body weight, Clinodactyly of the 5th finger |
OMIM:608747 |
| Microphthalmia With Limb Anomalies |
|
Failure to thrive, Toe syndactyly, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fusion,... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Narrow chest |
ORPHA:1354 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... |
OMIM:620141 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
| Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Recurrent fractures, Beaded ribs, Absent ossification of calvaria, Mul... |
OMIM:166210 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
| Metatropic Dysplasia |
|
Abnormal enchondral ossification, Clavicular pseudarthrosis, Cupped ribs, Flexion contracture, Sh... |
OMIM:156530 |
| Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects... |
ORPHA:2484 |
| Renpenning Syndrome |
|
Cachexia, Joint stiffness, Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Decreased... |
ORPHA:3242 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Thin ribs, Umbilical hernia, Generalized ... |
OMIM:617952 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
| Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Beaded ribs, Abnormal hand bone ossification, Short th... |
OMIM:200600 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Fractured radius, Small for gestational age, Beaded ribs, Mul... |
OMIM:616897 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Small for gestational age, Recurrent fractures, Beaded ribs, ... |
OMIM:616229 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia... |
ORPHA:239 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pes planus, Hyperactivity, Arachnodactyly, Slender build, Attention deficit hyperactivity disorde... |
OMIM:617600 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Thin ribs, Decreased calvarial ossification, Decreased body weight, Arthrogrypo... |
OMIM:618265 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Limitation of joint mobility, Abnormal ... |
ORPHA:3068 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Cac... |
ORPHA:85293 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Sprengel ... |
ORPHA:2345 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Thin bony cortex, Joint laxity, Inguinal ... |
OMIM:613848 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
| Omodysplasia 2 |
|
Short humerus, Dyspareunia, Micrognathia, Cryptorchidism, Fibular hypoplasia, Limited elbow flexi... |
OMIM:164745 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs, Cortical thickening of long bone diaphyses, Decreased skull ossificati... |
ORPHA:93324 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Hyperactivity, Joint stiffness, Splenomegaly, Umbilical hernia, Dense calvaria |
OMIM:252900 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Pectus excavatum, Rib fusion, Pectus carinatum, Supernumerary ribs |
ORPHA:64755 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Grayish enamel, Short thorax, Abnormal rib morphology, Reduced... |
ORPHA:582 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Short ribs, Slender build, Horizontal ribs |
OMIM:187760 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Thin ribs, Dec... |
OMIM:259420 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmati... |
ORPHA:2311 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Posterior rib fusion, Abnormal rib morphology, Missing ribs |
ORPHA:1797 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Abnormal rib morphology |
ORPHA:2578 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
| Prune Belly Syndrome |
|
Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased fertility, Failure to thrive... |
ORPHA:2970 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Pectus excavatum, Thin ribs, Lambdoidal craniosynostosis, Corona... |
OMIM:616294 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Abnormal rib morphology |
ORPHA:2643 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Pes planus, Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious b... |
ORPHA:449291 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Thin ribs, Decreased skull ossification, Calvarial osteosclerosis |
OMIM:244460 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thin bony cortex, Osteomalacia, Testicular neoplasm, Fibrous dyspla... |
ORPHA:249 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Hernia of the abdominal wall, Abnormal rib morphology, Pectus carinatum |
ORPHA:3082 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Abnormal rib morphology, Fused cervical vertebrae |
ORPHA:2522 |
| White Forelock With Malformations |
|
Joint hyperflexibility, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
| Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped ... |
ORPHA:2021 |
| Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Narrow chest,... |
OMIM:215140 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Decreased skull ossification, Thin ribs |
OMIM:300863 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Pectus excavatum, Abnormal... |
ORPHA:392 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Recurrent fractures, Undulate ribs, Thin ribs, Subperiosteal bone fo... |
OMIM:618188 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Lateral clavicle hook, Pectus excava... |
OMIM:182212 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormal rib morphology, Tarsal synostosis, Synostosis of carpal bones |
ORPHA:1836 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
| 3M Syndrome |
|
Scapular winging, Abnormal dental enamel morphology, Short thorax, Decreased fertility, Thin ribs... |
ORPHA:2616 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Thin ribs, Hyperostosis, Narrow chest, Abnormal bone ossification, Ge... |
ORPHA:73230 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Abnormal dental enamel morphology, Abnormal rib morphology, Obesity |
ORPHA:2180 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolys... |
OMIM:614008 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad ribs, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the co... |
ORPHA:89936 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Cupped ribs, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs |
OMIM:173800 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Bowing of the long bones, Failure to thrive, Camptod... |
ORPHA:90652 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Recurrent fractures, Abnormal dental enamel morphol... |
ORPHA:1452 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Pectus excavatum, Thin ribs, Loss of truncal subcutaneous adipose ... |
ORPHA:2463 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Cryptorchidism, Bell-shaped thorax, Failure to thrive, Horizontal ribs |
OMIM:614857 |
| Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus,... |
ORPHA:1827 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Joint hyperflexibility, Abnormal rib morphology, Missing ribs |
ORPHA:2759 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Dense calvaria, Hernia, Joint stiffness |
OMIM:252930 |
| Sclerosteosis 1 |
|
Sclerotic scapulae, Broad clavicles, Irregular menstruation, Facial palsy secondary to cranial hy... |
OMIM:269500 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Absent... |
OMIM:227650 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Broad ribs |
ORPHA:2519 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Dense calvaria, Joint stiffness |
OMIM:252920 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs |
ORPHA:3301 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi... |
ORPHA:254534 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Trisomy 13 |
|
Cryptorchidism, Abnormal rib morphology, Narrow chest, Hernia |
ORPHA:3378 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Short ribs, Horizontal ribs |
OMIM:200610 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Missing ribs, Congenital diaphragmatic hernia, Cryptorchidism,... |
ORPHA:2911 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Joint stiffness |
ORPHA:2167 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling |
OMIM:609616 |
| Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Short thor... |
ORPHA:261344 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly |
OMIM:184400 |
| Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con... |
ORPHA:171430 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Decreased cranial base ossification, Short ribs, Narrow chest, Thoracolumbar kyphosis,... |
OMIM:151210 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Cryptorchidism, Joint hypermobility, Thin ribs |
ORPHA:456328 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Short thorax, Poorly ossified v... |
ORPHA:3003 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Cryptorchidism, Rib fusion, Posteri... |
OMIM:611209 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Rib fusion |
OMIM:277300 |
| Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Interphalangeal joint contracture of finger, Craniosynostosis, Limited elbow mo... |
OMIM:305620 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Omphalocele, Inguinal hernia, Pectus excavatum, Flexion contracture, Prominent ster... |
ORPHA:254528 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology |
ORPHA:280195 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Inguinal hernia, Grayish enamel, Osteoporosis, Pectus carinatum, Prominent sternum,... |
OMIM:253000 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Delayed ossification of carpal bones, Obesity, Thin ribs |
OMIM:618395 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Flexion contracture, Thin ribs |
OMIM:614833 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... |
ORPHA:800 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
OMIM:118100 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Pe... |
ORPHA:99413 |
| Turner Syndrome |
|
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Pe... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Pe... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Pe... |
ORPHA:99226 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib morphology |
ORPHA:1318 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs |
ORPHA:1647 |
| Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Flexion contracture, Small for gestational age, Thin ribs |
OMIM:615368 |
| Meier-Gorlin Syndrome 1 |
|
Joint laxity, Failure to thrive, Absent sternal ossification, Small for gestational age, Lateral ... |
OMIM:224690 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Increased suscepti... |
ORPHA:2769 |
| Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ribs, Cervical ribs, Oste... |
OMIM:601812 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Inguinal hernia, Joint stiffness, Grayish enamel, Osteoporosis, Prominent sternum, ... |
OMIM:253010 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... |
OMIM:236680 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Decreased skull ossification, Thin ribs |
OMIM:602361 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Abnormal rib morpholo... |
ORPHA:2215 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, P... |
OMIM:619297 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Unilateral cryptorchidism, Joint hypermobility, Thin ribs |
OMIM:300219 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Flaring of lower rib cage, Short thorax, Abnormal rib morphology, ... |
ORPHA:175 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Cachexia |
ORPHA:93941 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Flexion contracture, Thin ribs, Bell-shaped thorax |
OMIM:608149 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad ribs, Sclerosis of skull base |
OMIM:269300 |
| Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Abnormal rib morphology, Radioulnar synostosis, Synostosis of ... |
ORPHA:3258 |
| Phaver Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology, Camptodactyly of finger, Joint stiffness |
ORPHA:2876 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Cryptorchidism, Limitation of joint mobility, Abnormal rib morphology, N... |
ORPHA:96061 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Thin ribs |
OMIM:312150 |
| Juberg-Hayward Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology |
ORPHA:2319 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Long clavicles, Down-sloping shoulders, Congenital ... |
OMIM:265000 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Limitation of joint m... |
ORPHA:2990 |
| Occipital Horn Syndrome |
|
Joint laxity, Broad clavicles, Pectus excavatum, Capitate-hamate fusion, Hiatus hernia, Osteoporo... |
OMIM:304150 |
| Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Decreased skull ... |
ORPHA:666 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs |
ORPHA:1834 |
| Three M Syndrome 2 |
|
Scapular winging, Small for gestational age, Short thorax, Thin ribs, Pectus carinatum |
OMIM:612921 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Broad clavicles, Cryptorc... |
OMIM:151050 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Inguinal hernia, Sagittal cran... |
OMIM:218330 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, Tarsal synostosis, Craniosynostosis, Cryptorchidism, Flexion contracture, A... |
ORPHA:95699 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Craniosynostosis, Rib fusion, Obesity, Failure to thrive |
ORPHA:261197 |
| Cantú Syndrome |
|
Broad ribs, Umbilical hernia, Osteoporosis, Narrow chest |
ORPHA:1517 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniof... |
OMIM:300373 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Flexion contracture, Thin ribs, Prominent sternum, Thoracic kyphosis |
OMIM:300232 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Joint stiffness, Cryptorchidism, Abno... |
ORPHA:2588 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Thin ribs |
OMIM:253290 |
| Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Short ribs, Craniosynostosis |
OMIM:252600 |
| Lymphangiectasia, Intestinal |
|
Prominent floating ribs |
OMIM:152800 |
| Cole-Carpenter Syndrome |
|
Joint hyperflexibility, Abnormal dental enamel morphology, Abnormal rib morphology, Recurrent fra... |
ORPHA:2050 |
| Autosomal Dominant Centronuclear Myopathy |
|
Cryptorchidism, Large for gestational age, Thin ribs |
ORPHA:169189 |
| Van Den Ende-Gupta Syndrome |
|
Hypoplastic scapulae, Glenoid fossa hypoplasia, Craniosynostosis, Lateral clavicle hook, Pectus e... |
OMIM:600920 |
| Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Spl... |
OMIM:219800 |
| Mucopolysaccharidosis Type 6 |
|
Broad ribs, Failure to thrive, Hernia, Joint stiffness |
ORPHA:583 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
| Aspergillosis |
|
Osteomyelitis, Abnormal rib morphology |
ORPHA:1163 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Irregular ossification of hand bones, Abnormal sternum ... |
OMIM:109400 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Cryptorchidism, Pectus carinatum, Short ribs, Narrow chest, Horizontal ribs |
OMIM:225500 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Congenital diaphragmatic hernia |
ORPHA:1120 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Joint stiffness, Pectus excavatum, Cr... |
ORPHA:309282 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions, Short ... |
OMIM:250420 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Joint laxity, Cupped ribs, Delayed proximal femoral epiphyseal ossification, Fl... |
OMIM:271640 |
| Cerebrofaciothoracic Dysplasia |
|
Rib fusion, Narrow chest, Hernia, Bifid ribs, Sprengel anomaly |
ORPHA:1394 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand p... |
ORPHA:2753 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Anomalous rib insertion to vertebrae, Calcaneal epip... |
OMIM:117650 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cupped ribs, Joint stiffness |
OMIM:608940 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Inguinal hernia, Craniosynostosis, Lar... |
OMIM:213980 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
| Hallermann-Streiff Syndrome |
|
Small for gestational age, Pectus excavatum, Cryptorchidism, Thin ribs, Abnormal rib cage morphol... |
OMIM:234100 |
| Vacterl/Vater Association |
|
Omphalocele, Cryptorchidism, Abnormal rib morphology, Congenital diaphragmatic hernia |
ORPHA:887 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm... |
ORPHA:79345 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Flexio... |
ORPHA:581 |
| Charge Syndrome |
|
Omphalocele, Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Micro... |
OMIM:214800 |
| Alagille Syndrome |
|
Cryptorchidism, Failure to thrive, Abnormal rib morphology |
ORPHA:52 |
| Xylt1-Cdg |
|
Joint laxity, Broad ribs, Truncal obesity, Short clavicles |
ORPHA:370930 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Stiff neck, Narrow chest, Broad ribs |
OMIM:617022 |
| Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Cryptorchidism, ... |
ORPHA:3380 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Large for gestational age, Limitation of joint mobility, Bell-shape... |
ORPHA:254519 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Cryptorchidism, Abnormal rib morpho... |
ORPHA:2554 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced bone mineral density, Ost... |
ORPHA:667 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal rib morphology, Thickened cortex of long bones |
ORPHA:488434 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Recurrent fractures, Pectus excavatum, Multiple prenatal frac... |
OMIM:610682 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Limitation of joint mobility, Abnormal rib... |
ORPHA:93473 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Joint stiffness |
ORPHA:1300 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Osteopetrosis |
OMIM:612301 |
| Monosomy 9Q22.3 |
|
Large for gestational age, Pectus excavatum, Abnormal rib morphology, Joint hyperflexibility, Umb... |
ORPHA:77301 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Increased density of long bones, Hypoplasia of first ribs, Sclerosis of skull bas... |
OMIM:269150 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Joint stiffness, Pectus excavatum, Flexion contracture, Osteolytic defects of the pha... |
OMIM:619127 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short thorax, Thoracic dysplasia, Short ribs,... |
OMIM:269860 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal dental enamel morph... |
ORPHA:534 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Inguinal hernia, Rib fusion, Large for gestational age |
ORPHA:544488 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Thickened ribs, Joint stiffness |
OMIM:230500 |
| Weill-Marchesani Syndrome 1 |
|
Broad ribs, Thin bony cortex, Joint stiffness |
OMIM:277600 |
| Mucopolysaccharidosis, Type X |
|
Broad ribs, Spatulate ribs, Broad clavicles |
OMIM:619698 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Multiple lipomas, Supernumerary ribs, B... |
ORPHA:50 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal thorax ... |
ORPHA:280 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Osteoporosis, Thin ribs |
OMIM:225400 |
| Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Inguinal hernia, Joint stiffness, Achilles tendon contracture... |
OMIM:252940 |
| Weill-Marchesani Syndrome 2 |
|
Joint stiffness, Elbow flexion contracture, Umbilical hernia, Broad ribs, Flexion contracture of ... |
OMIM:608328 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Rib fusion, Supern... |
OMIM:206900 |
| Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Atypical scarring of skin, Arthritis, Panniculitis, Abnormal sperm mor... |
ORPHA:228123 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Limitation of joint mobility, Undulate ribs, Thoraci... |
OMIM:211350 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs |
ORPHA:163966 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Supernumerary ribs, Bifid ribs, Lipoma |
OMIM:304050 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Cupped ribs, Horizontal inferior border of scapula, Delayed epiphyseal ossifica... |
OMIM:250220 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
| Monosomy 9P |
|
Congenital diaphragmatic hernia, Cryptorchidism, Limitation of joint mobility, Abnormal rib morph... |
ORPHA:261112 |
| Kbg Syndrome |
|
Vertebral fusion, Cryptorchidism, Rib fusion, Cervical ribs, Thoracic kyphosis |
OMIM:148050 |
| Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Joint stiffness, Flexion contracture, Pectus carinatum, Prominent sternum, Umbil... |
OMIM:253200 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Cryptorch... |
OMIM:208150 |
| Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Inguinal hernia, Missing ribs, Pectus excavatum, Cryptorchidism, ... |
OMIM:268310 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic... |
ORPHA:373 |
| Fryns Syndrome |
|
Omphalocele, Large for gestational age, Cryptorchidism, Thin ribs, Aplasia of the left hemidiaphr... |
OMIM:229850 |
| Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormal rib morpholo... |
ORPHA:991 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Inguinal hernia, Streak ovary, Failure to thrive in infancy, Abnorm... |
ORPHA:798 |
| Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion |
OMIM:614688 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Knee flexion contracture, Joint hyperflexibility, Camptodactyly, Thoracolumbar k... |
OMIM:618019 |
| Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Rib fusion, Pectus ca... |
ORPHA:1507 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Contracture of the distal interphalangeal joint of the fingers, ... |
ORPHA:83617 |
| Hereditary Acrokeratotic Poikiloderma |
|
Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:2907 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Pectus excavatum, Osteopetrosis, Failure to thrive, Prominent floating ribs |
ORPHA:2785 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Inguinal hernia, Craniosynostosis, Pectus excavatum, Short ribs, Narrow chest, Hori... |
OMIM:613610 |
| Noonan Syndrome 1 |
|
Male infertility, Pectus excavatum of inferior sternum, Failure to thrive in infancy, Cryptorchid... |
OMIM:163950 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad ribs, Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomala... |
ORPHA:444077 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Limited elbow movement, Missing ribs, Cryptorchidism, Humeroradial synostosis, R... |
OMIM:134780 |
| Cog1-Cdg |
|
Osteopenia, Failure to thrive, Rib fusion, Posterior rib gap |
ORPHA:263508 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Umbilical hernia, Limited elbow extension, Obesity |
OMIM:301066 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
| Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Joint stiffness, Cryptorchidism, Limitation of joint... |
OMIM:139210 |
| Zttk Syndrome |
|
Craniosynostosis, Flexion contracture, Rib fusion, Cervical ribs, Failure to thrive, Joint hyperm... |
OMIM:617140 |
| Dextrocardia |
|
Abnormal rib morphology |
ORPHA:1666 |
| Charge Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Abnormality of bone mineral density, Hypogonadotropic hy... |
ORPHA:138 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Fused cervical vert... |
OMIM:157800 |
| Smith-Lemli-Opitz Syndrome |
|
Cryptorchidism, Abnormal rib morphology, Abnormal dental enamel morphology, Congenital diaphragma... |
ORPHA:818 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Missing ribs, Cryptorchidism, Rib fusion, Um... |
ORPHA:97360 |
| Kindler Epidermolysis Bullosa |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture, Abnormal rib mor... |
ORPHA:2908 |
| Radio-Renal Syndrome |
|
Abnormal rib morphology |
ORPHA:3015 |
| Pallister-Hall Syndrome |
|
Cryptorchidism, Rib fusion, Decreased testicular size |
OMIM:146510 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Small for gestational age, Cryptorchidism, Rib ... |
OMIM:194190 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Rib fusion, Obesity, ... |
ORPHA:1606 |
| Ulbright-Hodes Syndrome |
|
Cryptorchidism, Humeroradial synostosis, Abnormal rib morphology, Thin ribs, Short sternum, Short... |
ORPHA:3404 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Lipoatrophy, Cryptorchidism, Flex... |
OMIM:264090 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of join... |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Flexion contracture, Limitation of join... |
ORPHA:217093 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs |
ORPHA:85167 |
| Baller-Gerold Syndrome |
|
Sagittal craniosynostosis, Craniosynostosis, Limited elbow movement, Rib fusion, Limited shoulder... |
OMIM:218600 |
| Alagille Syndrome 1 |
|
Failure to thrive, Abnormal rib morphology |
OMIM:118450 |
| Cystic Fibrosis |
|
Male infertility, Clubbing of fingers, Failure to thrive, Hepatosplenomegaly |
OMIM:219700 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Sagittal craniosynostosis, Rib fusion, Hyperextensible hand joints,... |
ORPHA:500150 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Cryptorchidism, Rib fusion, Obesity, Bifid ribs, Campt... |
OMIM:607872 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short ribs, Narrow chest, Horizontal ribs, Short clavicles |
OMIM:617088 |
| Vater/Vacterl Association |
|
Radioulnar synostosis, Abnormal sternum morphology, Failure to thrive, Abnormal rib morphology |
OMIM:192350 |
| Pallister-Hall Syndrome |
|
Inguinal hernia, Large for gestational age, Cryptorchidism, Rib fusion, Distal arthrogryposis, Um... |
ORPHA:672 |
| Townes-Brocks Syndrome |
|
Cryptorchidism, Failure to thrive, Abnormal rib morphology |
ORPHA:857 |
