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Gene: Hoxa11 MGI:96172

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
homeobox A11
Synonyms:
Hox-1.9,  Hoxa-11

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hoxa11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hoxa11 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432

The table below shows human diseases predicted to be associated to Hoxa11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 17
Male infertility OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
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 1
Female infertility OMIM:615774
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 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
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 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
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
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
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
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
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
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Vertical Talus, Congenital
Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr... ORPHA:1570
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Symphalangism, Proximal, 1B
Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion crease, Proximal/middle... OMIM:615298
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
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 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
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 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
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1040
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
Caudal Appendage-Deafness Syndrome
Cryptorchidism, Abnormal digit morphology, Caudal appendage ORPHA:1123
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Digitotalar Dysmorphism
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger OMIM:126050
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Congenital Vertical Talus
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality... ORPHA:178382
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... ORPHA:1275
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Cervical Rib
Cervical ribs OMIM:117900
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
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, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, Decreased fertility, Hypogonadism, Abnormal metacarpal m... ORPHA:2233
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis... ORPHA:2249
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... OMIM:249600
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... ORPHA:3104
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
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 66
Male infertility, Globozoospermia OMIM:619799
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Scoliosis, Clinodactyly of t... OMIM:615155
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Pseudoachondroplasia
Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Abnormal form of the verte... ORPHA:750
Solitary Bone Cyst
Abnormal tibia morphology, Proximal femoral metaphyseal abnormality, Lytic defects of the radius,... ORPHA:83468
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Rocker bottom foot, Single transver... OMIM:108120
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Short neck, Shield chest, Infertility, Cubitus valgus, Micropenis, Decreased te... ORPHA:261524
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... ORPHA:3121
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Short thumb OMIM:274205
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... ORPHA:1856
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia OMIM:211180
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ... ORPHA:2741
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb OMIM:179250
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... ORPHA:957
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Osteochondrosis Of The Tarsal Bone
Pedal edema, Tarsal sclerosis, Arthritis, Tarsal stippling, Abnormal tarsal ossification, Osteoch... ORPHA:563991
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... OMIM:227270
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Smith-Mccort Dysplasia 2
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars... OMIM:615222
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Limitation of joint... ORPHA:376
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Distal Arthrogryposis Type 1
Rocker bottom foot, Camptodactyly of finger, Talipes, Ulnar deviation of finger, Abnormal hip bon... ORPHA:1146
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... ORPHA:75508
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
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
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I... OMIM:617974
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, R... OMIM:614078
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vertebral bodies, A... ORPHA:1837
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
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
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Arthrogryposis, Distal, Type 1B
Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture... OMIM:614335
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... OMIM:601680
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Seckel Syndrome 7
Madelung deformity, Abnormal carpal morphology, Primary amenorrhea, Hypoplasia of the uterus, Hip... OMIM:614851
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Cryptorchidism, Large hands, Scoliosis, Decreased testicular size ORPHA:85287
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia OMIM:277150
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... OMIM:271700
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... ORPHA:3268
Bowen-Conradi Syndrome
Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Cryptorchidism, Clinodactyly of the... ORPHA:1270
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity OMIM:162370
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h... OMIM:307500
Pseudoachondroplasia
Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fragmente... OMIM:177170
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Tapered finger, Cryptorchidism, Hypogonadism, Micropenis ORPHA:85274
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Single transverse palmar cr... OMIM:206920
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Cryptorchidism, Tapered finger OMIM:309585
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... ORPHA:2557
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Tetrasomy X
Premature ovarian insufficiency, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Cl... ORPHA:9
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals OMIM:277950
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Equinovarus deformity,... ORPHA:566943
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial hand polydactyly, Genu... OMIM:225500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Metap... ORPHA:163966
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Hao-Fountain Syndrome
Hallux valgus, Cryptorchidism, Clinodactyly of the 5th finger, Premature adrenarche, Micropenis, ... OMIM:616863
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... ORPHA:3266
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Cardiospondylocarpofacial Syndrome
Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm ORPHA:3238
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Abnormal ... OMIM:216100
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... ORPHA:457395
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Syndactyly, Congenital hip dislocation, Supernumerary nipple, Pectus exca... OMIM:263750
Arthrogryposis, Distal, Type 1C
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of finger, Short... OMIM:619110
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... ORPHA:2633
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ... ORPHA:2234
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h... ORPHA:2496
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno... ORPHA:85438
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... OMIM:615633
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... OMIM:602471
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... OMIM:212780
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... OMIM:605282
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna ORPHA:971
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand, Narrow palm, Short foot, ... ORPHA:177910
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Vertebral segmentatio... ORPHA:1323
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Delayed skeletal maturation, Small hand, Short foot, Hypogonadism, Decreased test... ORPHA:261483
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal... OMIM:180870
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Kyp... OMIM:301900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of t... OMIM:184252
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Abnormality of the hand, Joint stiffness, Short neck, Cryptorchidism, Narrow... ORPHA:1621
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Hypospadias, Proximal placement... ORPHA:2438
Shox-Related Short Stature
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... ORPHA:314795
Polydactyly-Myopia Syndrome
Cryptorchidism, Postaxial hand polydactyly ORPHA:2917
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Campto... ORPHA:2804
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... ORPHA:246
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee flexion, Calcaneov... OMIM:615065
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Silver-Russell Syndrome
Abnormality of male external genitalia, Sandal gap, Hypospadias, Lower limb asymmetry, Precocious... ORPHA:813
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Patellar subluxation, Bilateral ta... ORPHA:2958
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphal... ORPHA:628
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab... ORPHA:3130
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... ORPHA:2980
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthro... OMIM:618393
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Large carpal bones, Abnor... ORPHA:99330
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... OMIM:615349
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Clinodactyly, Micrognathia ORPHA:357175
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Arthrogryposis, Distal, Type 2B2
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali... OMIM:618435
Intellectual Disability, Wolff Type
Hypospadias, Camptodactyly of finger, Cryptorchidism, Delayed skeletal maturation, Limitation of ... ORPHA:3080
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Tarsal synostosis ORPHA:1412
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Abno... ORPHA:93360
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... ORPHA:2616
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Pes planus, Calcaneovalgus deformity, Genu recurvatum OMIM:225320
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... OMIM:274000
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Increased bone mineral density, Hypospadias, Tarsal synostosis, Short h... ORPHA:90652
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly OMIM:615982
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... ORPHA:3103
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange... ORPHA:710
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge... OMIM:610797
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Cryptorchidism, Anterior wedging of T11, Uterus didelphy... OMIM:164745
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Prieto Syndrome
11 pairs of ribs, Coxa valga, Cryptorchidism, Osteoporosis, Patellar subluxation, Talipes equinov... OMIM:309610
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
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Delayed skeletal maturation, Cryptorchidism, Short metacarpal, Short thumb ORPHA:2489
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Clinodactyly, Micrognathia OMIM:615162
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Long penis, Abnormal ... ORPHA:1988
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Larsen-Like Syndrome
Joint dislocation, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5... OMIM:608545
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly ORPHA:3303
Tarsal Coalition
Tarsal synostosis OMIM:186850
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Single transverse palmar crease, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Bell-... ORPHA:178148
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Shortening of all distal phal... OMIM:619135
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... OMIM:602271
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Cryptorchidism, Hypogonadism ORPHA:85173
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E... OMIM:616266
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Cryptorchidism, ... ORPHA:1307
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... OMIM:163400
X-Linked Intellectual Disability, Hedera Type
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore... ORPHA:93952
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Azoosp... ORPHA:1445
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... OMIM:602849
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Hand-Foot-Genital Syndrome
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... OMIM:140000
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence OMIM:179270
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Cryptorchidism, Short thumb, Radioulnar synostos... OMIM:194350
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... OMIM:300863
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb OMIM:614257
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Joint stiffness, Latera... ORPHA:1801
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Cryptorchidism ORPHA:1918
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... OMIM:148820
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r... ORPHA:1703
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Osteomesopyknosis
Low back pain, Increased bone mineral density, Infertility OMIM:166450
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Cryptorchidism, Congenital knee dislocation, Bilateral talipes equinovarus, Scoliosis, Hand clenc... ORPHA:319332
Three M Syndrome 3
Clinodactyly of the 5th finger, Prominent calcaneus, Hip dysplasia, Slender long bone OMIM:614205
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Crani... ORPHA:65759
Trisomy 4P
Hypospadias, Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Cryptorchidism, Radi... ORPHA:1738
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Genu valgum, Small pituitary gland,... OMIM:614880
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o... ORPHA:93323
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Dysplasia Epiphysealis Hemimelica
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Osteoarthritis, Abnormal femur m... ORPHA:1822
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Acrofacial Dysostosis, Catania Type
Hypospadias, Single transverse palmar crease, Cryptorchidism, Short palm, Spina bifida occulta OMIM:101805
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... OMIM:123150
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin... ORPHA:93307
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... ORPHA:896
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Cr... ORPHA:3409
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Hyperinsuline... ORPHA:3085
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Talipes equinovarus, Arthrogryposis ... ORPHA:250994
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplasia... OMIM:108720
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... ORPHA:3078
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... ORPHA:53271
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip disloc... ORPHA:1005
Mmep Syndrome
Cryptorchidism, Split foot, Triphalangeal thumb ORPHA:3434
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Abnormality of the knee, Broad hallux, External genital hypoplasia, Mi... ORPHA:251028
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Micrognathia, Missin... OMIM:200980
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Short neck, Knee flexion contracture... OMIM:114300
Microcephaly 27, Primary, Autosomal Dominant
Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger... OMIM:619180
Microcephaly 16, Primary, Autosomal Recessive
Knee flexion contracture, Cryptorchidism, Adducted thumb OMIM:616681
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Absent thumb, Micrognathia, Cryptorchidism... ORPHA:96097
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Ellis Van Creveld Syndrome
Hypospadias, Micromelia, Epispadias, Cryptorchidism, Capitate-hamate fusion, Delayed skeletal mat... ORPHA:289
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Accelerated skeletal maturation, Precocious puberty, Long penis, Oligozoospermi... ORPHA:3000
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Weaver Syndrome
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Accelerated skeletal... ORPHA:3447
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Short neck, Cryptorchidism, Hand clenching, Arthrogryposis multiplex congenita OMIM:618766
Larsen Syndrome
Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Cryptorchidism, Talipes ... OMIM:150250
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of... ORPHA:1507
Osteogenesis Imperfecta, Type Vi
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... OMIM:613982
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ... ORPHA:3082
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Elbow dislocation, Cryptorchidism,... ORPHA:93328
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pectus excavatum, Cryptorchidism, Clinodactyly, Small hand, Pectus carinatum, Broad finger, Micro... OMIM:614684
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones, Bilateral single transverse palmar c... ORPHA:3191
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Jo... ORPHA:2772
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis ORPHA:408
Three M Syndrome 2
Scapular winging, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly OMIM:612921
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... OMIM:608154
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... ORPHA:2578
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Missing ribs, Hemiverte... OMIM:271520
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... ORPHA:3429
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism, Hypoplasia of penis, Sandal gap ORPHA:2022
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Pes planus, Joint dislocation, Arachnodactyly, Sandal gap, Phalangeal dislocation,... ORPHA:536532
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Tapered finger OMIM:618512
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
X-Linked Intellectual Disability, Miles-Carpenter Type
Hypogonadism, Rocker bottom foot ORPHA:85283
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Bilateral breast hypoplasia, ... ORPHA:319675
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Abnormal rib mor... ORPHA:1354
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis, Short palm OMIM:300982
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu... OMIM:613390
Isolated Hemihyperplasia
Cryptorchidism, Asymmetry of the thorax, Scoliosis ORPHA:2128
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyly, Limited e... ORPHA:221120
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... ORPHA:85282
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Tal... OMIM:618484
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip... ORPHA:166016
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Metatarsus adductus, Cryptorchidism, Calcaneovalgus deformity, Hypogonadism, Camp... OMIM:612513
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... OMIM:251450
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bo... OMIM:620076
Martsolf Syndrome 1
Thoracic scoliosis, Osteopathia striata, Pectus carinatum, Finger joint hypermobility, Short palm... OMIM:212720
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis involving t... OMIM:166300
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Bra... OMIM:612626
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... OMIM:619797
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2790
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... OMIM:600920
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Camp... ORPHA:562528
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Elbow dislocation,... OMIM:171480
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Short neck, Cryptorchidism, Kyphosis, Hip dy... OMIM:611890
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Joint stiffness, Adducted thumb, Uln... ORPHA:1147
Distal Duplication 18Q
Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Short neck, Progressive interverteb... ORPHA:1716
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Duane-Radial Ray Syndrome
Syndactyly, Radial deviation of the hand, Hypoplasia of the ulna, Sandal gap, Short humerus, Pes ... OMIM:607323
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus excavatum, Cryptorchidism, D... ORPHA:163654
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... ORPHA:239
Satoyoshi Syndrome
Pes planus, Short metacarpal, Short metatarsal, Amenorrhea, Osteolytic defects of the phalanges o... OMIM:600705
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pancreatic fibrosis, Pancreatic cysts, Early ossification of capital femo... OMIM:208500
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias, Genu valgum ORPHA:1381
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:268310
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... OMIM:305400
48,Xyyy Syndrome
Short neck, Azoospermia, Radioulnar synostosis, Primary gonadal insufficiency, Male hypogonadism,... ORPHA:99329
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Limited elbow extension, Tapered finger OMIM:300706
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossi... OMIM:614613
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... OMIM:608728
Becker Nevus Syndrome
Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Hypoplastic labia minora, Abnormal ... ORPHA:64755
Renal Agenesis
Absent vas deferens, Talipes equinovarus, Aplasia/hypoplasia of the uterus ORPHA:411709
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... ORPHA:2311
Multiple Synostoses Syndrome 4
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Lumb... OMIM:602875
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Pes planus, Joint dislocation, Sandal gap, Genu recurvatum, Recurrent shoulder dis... ORPHA:230851
Non-Distal Duplication 10Q
Pectus excavatum, Cryptorchidism, Scoliosis, Joint hyperflexibility ORPHA:1695
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Cryptorchidism, Delayed skeletal matu... ORPHA:2645
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Elbow dislocation, Cryptorchidism, Abnormal ... ORPHA:10
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Delayed skeletal maturation, Primary amenorrhea, ... OMIM:229070
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Large ilia... ORPHA:3168
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Micrognathia, Ambiguous genitalia, female, Primary amenorrhea, Deformed humer... ORPHA:2975
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Rocker bottom foot, Micrognathia OMIM:616570
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Primary amenorrhea, Finger joint... OMIM:244200
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the... ORPHA:2879
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Prominent calcaneus, Cryptorchidism ORPHA:565624
Odontochondrodysplasia 1
Biconvex vertebral bodies, Short metacarpal, Genu recurvatum, Brachydactyly, Micromelia, Metaphys... OMIM:184260
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Abnormal ... ORPHA:2970
Distal Duplication 15Q
Arachnodactyly, Camptodactyly of finger, Short neck, Joint stiffness, Cryptorchidism, Pectus exca... ORPHA:1707
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Ulnar deviation of f... ORPHA:921
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Small hand, Short foot ORPHA:3459
3Q29 Microdeletion Syndrome
Hypospadias, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Joint ... ORPHA:65286
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Accelerated skeletal maturat... OMIM:175700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... OMIM:614732
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... OMIM:620269
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Nicolaides-Baraitser Syndrome
Short palm, Joint dislocation, Sandal gap, Accelerated skeletal maturation, Cryptorchidism, Delay... ORPHA:3051
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... OMIM:143095
Megalencephaly
Short neck, Delayed skeletal maturation, Long penis, Genu valgum, Macroorchidism ORPHA:2477
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, D... OMIM:300869
Alazami-Yuan Syndrome
Cryptorchidism, Broad hallux, Single transverse palmar crease OMIM:617126
Autosomal Recessive Amelia
Hypoplasia of penis, Small scrotum, Cryptorchidism, Amelia involving the upper limbs, Acromelia o... ORPHA:1027
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Tapered finger, Cryptorchidism, Talipes equinovarus, Short palm, Clinoda... ORPHA:85279
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Crypt... OMIM:600325
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Flexion contracture, Scoliosis OMIM:618298
Acrocallosal Syndrome
Abnormal clavicle morphology, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Triphalang... ORPHA:36
Larsen Syndrome
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Acc... ORPHA:503
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... OMIM:215045
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... OMIM:157800
Combined Oxidative Phosphorylation Deficiency 47
Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of the distal ph... OMIM:618958
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Desbuquois Syndrome
Genu recurvatum, Camptodactyly of finger, Coxa valga, Short neck, Elbow dislocation, Accelerated ... ORPHA:1425
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Anteriorly displaced ... OMIM:276820
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Abnormality of the wrist, ... ORPHA:3265
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Precocious puberty, Cryptorchidism, ... OMIM:620073
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Decreased skull ossification, Testicu... OMIM:601163
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Joint hypermobility, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagin... ORPHA:456328
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Craniosynostosis, Elbow dis... ORPHA:93329
Pontocerebellar Hypoplasia, Type 12
Talipes equinovarus, Overlapping fingers, Rocker bottom foot, Micrognathia OMIM:618266
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Hypospadias, Cryptorchidism, Flexion contracture, Scoliosis, Arthrog... OMIM:301830
Intellectual Developmental Disorder, X-Linked 106
Hypospadias, Cryptorchidism, Clinodactyly of the 5th finger, Clinodactyly, Decreased testicular size OMIM:300997
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Abnormality of the h... ORPHA:1387
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Delayed skeletal maturation, Primary a... OMIM:614837
Freeman-Sheldon Syndrome
Camptodactyly of finger, Joint stiffness, Cryptorchidism, Ulnar deviation of finger, Talipes equi... ORPHA:2053
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Limit... OMIM:607095
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Bilateral single transverse palmar creases, Cryptorchidis... ORPHA:2377
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... ORPHA:2332
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Multiple joint contractures, Cryptorchidism, Hip dislocation, Sco... ORPHA:370968
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Down-sloping shoulders, Coxa valga, Short neck, Cryptorchidis... ORPHA:96263
Auriculoosteodysplasia
Elbow dislocation, Aplasia/Hypoplasia of the radius, Hip dysplasia, Abnormal metacarpal morpholog... ORPHA:114
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Cryptorchidism, Kyphosis, Shawl scrotum, Micropenis, Decreased testi... OMIM:615433
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Patent d... ORPHA:171839
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... OMIM:164900
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Flexion contracture, Small hand, Na... OMIM:615547
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Cryptorchidism, Unilambdoid synostosis, Scoliosis, Clinodactyly, Hy... OMIM:618577
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Anterior ... OMIM:211350
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly, Oligodactyly ORPHA:3016
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Small ... ORPHA:254516
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Aplasia of ... ORPHA:2232
Rin2 Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Increased suscep... ORPHA:217335
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossification of carpal bones... OMIM:618363
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Imagawa-Matsumoto Syndrome
Accelerated skeletal maturation, Cryptorchidism, Large hands, Camptodactyly, Clinodactyly OMIM:618786
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Aarskog-Scott Syndrome
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Single transverse palmar crease, Sho... ORPHA:915
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Distal Monosomy 7Q36
Hypoplasia of penis, Short neck, Pectus excavatum, Cryptorchidism, Symphalangism affecting the ph... ORPHA:1636
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism, Overlapping toe, Scoliosis, Reduced bone mineral density ORPHA:466926
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fing... OMIM:616738
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Hypospadias, Abnormal finger flexion crease, Sandal gap, Singl... OMIM:210600
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus ORPHA:746
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Rahman Syndrome
Kyphoscoliosis, Accelerated skeletal maturation, Cryptorchidism, Talipes equinovarus, Camptodactyly OMIM:617537
Crane-Heise Syndrome
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Abnormally ossified... ORPHA:1512
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Hem... ORPHA:377
Pierpont Syndrome
Joint laxity, Short neck, Cryptorchidism, Short toe, Deep palmar crease, Short finger, Scoliosis,... ORPHA:487825
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhe... OMIM:610628
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Occipital Horn Syndrome
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa val... OMIM:304150
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Cryptorc... OMIM:258315
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Delayed skeletal maturatio... ORPHA:3363
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Down-sloping shoulders, Coxa valga, Short neck, Cryptorchidis... ORPHA:96264
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Hypospadias, Sandal gap, Cryptorchidism, Kyphosis, Small hand, Short foot, Hypogona... OMIM:300354
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor... OMIM:271665
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Genu varum OMIM:604317
Qazi-Markouizos Syndrome
Dysharmonic bone age, Tapered finger, Pectus excavatum, Cryptorchidism, Delayed ossification of c... ORPHA:3010
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Abnormality of t... ORPHA:521445
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Short neck, Cryptorchidism, Small hand, Short foot, ... OMIM:300882
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec... OMIM:108721
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Supernumerary nipple, Pectus excavatum, Supernumerary ribs, Six lumbar vertebra... OMIM:619122
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Flared metaphysis, Hypoplastic pubic bone, Platyspondyly, Small ep... ORPHA:93346
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl... OMIM:184705
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Midshaft hypospadias, Wormian ... ORPHA:2863
Distal Deletion 10P
Hypoplasia of penis, Short neck, Joint stiffness, Cryptorchidism, Abnormality of the elbow, Polyc... ORPHA:1580
Cousin Syndrome
Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, ... OMIM:260660
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ... OMIM:617895
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Pectus excavatum, Cryptorchidism, Delayed skeletal matur... ORPHA:2701
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Warburg Micro Syndrome 1
Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Joint... OMIM:600118
Pierpont Syndrome
Short neck, Cryptorchidism, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, ... OMIM:602342
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Patent ductus arteriosus, Abnor... ORPHA:2519
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Joint stiffness, Cryptorchidism,... ORPHA:1300
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Vertebral segmentation defect, Abnormal hip bone morphology, Joint stiffness ORPHA:1166
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, External genital hypoplasia, Micrognathia, Tibial bowing, Hypopl... ORPHA:96334
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Primary amenorrhea, Ectr... OMIM:147950
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Broad hallux, Hypospadias, Single transverse palmar crease, Short neck, ... OMIM:614541
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Cryptorchidism, Short neck, A... ORPHA:1865
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Rocker bottom foot, Equinovarus deformity, Ankle flexion contracture, Micrognath... ORPHA:1143
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,... ORPHA:2522
Proximal Xq28 Duplication Syndrome
Hypospadias, Joint stiffness, Pectus excavatum, Cryptorchidism, Delayed skeletal maturation ORPHA:1762
Seckel Syndrome 5
11 pairs of ribs, Hypospadias, Cryptorchidism, Delayed skeletal maturation, Short middle phalanx ... OMIM:613823
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Rocker bottom foot, Gonadal tissue inappropriate for external genitalia ... ORPHA:261519
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Abnormality of... OMIM:601076
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Short 5th finger... OMIM:133705
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
Fetal Akinesia Deformation Sequence 3
Talipes, Overlapping fingers, Rocker bottom foot, Micrognathia OMIM:618389
Li-Campeau Syndrome
Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Patellar hypoplasia, M... OMIM:619189
Radial Aplasia, X-Linked
Absent radius, Penile hypospadias OMIM:312190
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Short dista... ORPHA:52
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Scoliosis, Female infertility OMIM:619518
Coffin-Siris Syndrome 8
Cryptorchidism, Scoliosis OMIM:618362
Fg Syndrome 3
Cryptorchidism, Joint contracture, Broad hallux, Broad thumb OMIM:300406
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Arachnodactyly, Pectus excavatum, Cryptorchidism, Pectus carinatum, Talipes equinov... OMIM:301039
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Temple Syndrome
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Flexion contracture, Sm... OMIM:616222
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Renpenning Syndrome
Diabetes mellitus, Hypospadias, Joint stiffness, Abnormal thumb morphology, Pectus excavatum, Abn... ORPHA:3242
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Thoracic hypoplasia, Micromelia, Cryptorchidism, Short long bone, Talip... OMIM:224410
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Gout, Hypoplasia of the ute... OMIM:137920
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Abnormality of the uterus, Triphalangeal thumb, Clinodac... ORPHA:84
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Joint laxity, Single transverse palmar crease, Cryptorchidism, 2-3 toe syndactyly, Abnormality of... ORPHA:502434
Ichthyosis, X-Linked
Cryptorchidism, Palmar hyperlinearity, Palmoplantar keratoderma, Testicular neoplasm OMIM:308100
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis, Delayed skeletal maturation, L... ORPHA:3068
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Cryptorchidism, Kyphosis, Narrow palm, Congenital contracture, Joint co... ORPHA:352490
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... ORPHA:2872
Chromosome 18P Deletion Syndrome
Barrel-shaped chest, Toe syndactyly, Short neck, Cryptorchidism, Coxa vara, Gonadal dysgenesis, R... OMIM:146390
Congenital Myopathy 19
Bell-shaped thorax, Cryptorchidism, Congenital contracture, Scoliosis OMIM:618578
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Hypospadias OMIM:302905
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Missing ribs, ... OMIM:617866
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Silver-Russell Syndrome 3
Syndactyly, Unilateral cryptorchidism, Elbow contracture, Patent ductus arteriosus, Delayed skele... OMIM:616489
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... OMIM:600002
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger... OMIM:272440
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum,... ORPHA:397590
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co... OMIM:259600
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259440
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Micrognathia, Wrist swelling, Slender long bone, Metacarpal osteolysis, ... ORPHA:2774
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Prominent metopic ridge, Cryptorchidism, Clinodactyly, Scoliosis OMIM:620316
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Delayed skeletal maturation, Primary amenorrhea, S... OMIM:612702
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... OMIM:224690
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent gallbladder, Missing ribs, Abnorm... ORPHA:3186
Caudal Regression Syndrome
Maternal diabetes, Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology,... ORPHA:3027
Camptobrachydactyly
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... OMIM:114150
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... OMIM:151050
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Pectus excavatum, Cryptorchidism, Short... OMIM:618659
Mcdonough Syndrome
Pectus excavatum, Cryptorchidism, Kyphosis, Scoliosis, Bilateral single transverse palmar creases ORPHA:2471
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Short toe, Joint hyperflexibi... ORPHA:127
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio... ORPHA:2097
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Cryptorchidism, Insulin-resistant d... ORPHA:293967
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... ORPHA:93111
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly ORPHA:1338
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Spinal rigidity, Pectus excavatum, Cryptorchidism, Sco... ORPHA:486815
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Anterior... OMIM:611717
Microphthalmia, Syndromic 8
Cryptorchidism, Split foot OMIM:601349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Scoliosis, Micropenis OMIM:613156
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Clino... OMIM:201000
Harrod Syndrome
Arachnodactyly, Hypospadias, Cryptorchidism, Kyphosis, Abnormal shoulder morphology, Joint hyperf... ORPHA:2115
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Cryptorchidism, Increase... OMIM:616817
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ankle clonus, Hypoplasia of the ulna, Metopic synostosis, Lambdoidal craniosynostosis OMIM:615398
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Pde4D Haploinsufficiency Syndrome
Joint laxity, Short metacarpal, Hypospadias, Broad hallux, Accelerated skeletal maturation, Crypt... ORPHA:439822
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Arthritis, Infertility, Amenorrhea OMIM:602390
Chung-Jansen Syndrome
Tapered finger, Cryptorchidism, Hip dysplasia, Clinodactyly of the 5th finger, Joint hypermobility OMIM:617991
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h... ORPHA:465508
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scol... ORPHA:531151
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morpholo... ORPHA:3404
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Scoliosis ORPHA:893
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgenesis, Hypogonadism, Talipes... ORPHA:3306
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Bifid uterus, Micro... OMIM:256520
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum, Scoliosis, Short distal phalanx of finger ORPHA:1970
Desbuquois Dysplasia 2
Pes planus, Short metacarpal, Epiphyseal dysplasia, Monkey wrench femoral neck, Single transverse... OMIM:615777
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Cryptorchidism, Short thumb, Dislocated rad... ORPHA:401935
Stankiewicz-Isidor Syndrome
Sacral dimple, Hypospadias, Absent thumb, Cryptorchidism, Short thumb, Patent ductus arteriosus, ... OMIM:617516
Oculocerebrocutaneous Syndrome
Cryptorchidism, Abnormal thorax morphology, Congenital hip dislocation OMIM:164180
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Pectus excavatum,... OMIM:606851
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... OMIM:600081
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Single transverse palmar crease OMIM:250951
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Abnormal sacrum morphology, Bifid sacrum, Uterus didel... ORPHA:1756
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O... ORPHA:1657
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal thorax morphology, Hip dislocation, Fibular ... OMIM:605274
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia, Abnormal rib morphology, L... ORPHA:96061
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Cryptorchidism, Abnormal 5th finger morpholog... ORPHA:1439
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Tapered finger, Cryptorchidism, Generalized joint laxity, 2-3 toe syndactyly, Clinodactyly of the... ORPHA:589905
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis,... OMIM:618000
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ... ORPHA:2083
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Cryptorchidism, P... OMIM:607143
Acrodysostosis 1 With Or Without Hormone Resistance
Accelerated skeletal maturation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circul... OMIM:101800
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Plantar hyperkeratosis, Aplasia/Hypoplasia of the patella, Short thumb, A... ORPHA:2909
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... OMIM:251230
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Cryptorchidism,... OMIM:211750
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Pectus ca... OMIM:100100
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... ORPHA:2502
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Scoliosis, Camptodactyly, Clinodactyl... OMIM:179613
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Short neck, Cryptorchidism, Short toe, Flexion contracture, Pectus carinatum, Talipe... ORPHA:98791
Joubert Syndrome 37
Prominent metopic ridge, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Micropenis,... OMIM:619185
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Fanconi Anemia, Complementation Group W
Abnormal radial ray morphology, Hypoplasia of the radius, Decreased response to growth hormone st... OMIM:617784
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
German Syndrome
Camptodactyly of finger, Short neck, Cryptorchidism, Limitation of joint mobility, Ambiguous geni... ORPHA:2077
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Equinovarus deformity, Micrognathia, Meta... OMIM:224400
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Sacral dimple, Single transverse palmar crease, Short neck, Bilateral cryptorchidis... OMIM:613544
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Cryptorchid... ORPHA:178303
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Short neck, Cryptorchidism, Postaxial hand polydactyly, H... ORPHA:110
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Atelosteogenesis Type Iii
Short tubular bones of the hand, Knee dislocation, Short tibia, Vertebral hypoplasia, Abnormality... ORPHA:56305
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... ORPHA:93317
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se... OMIM:615300
Greenberg Dysplasia
Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan... OMIM:215140
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Adducted thumb, Flared metaphysis, Hip... OMIM:610758
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism, Delayed skeletal maturation, Tapered finger ORPHA:85322
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral cond... OMIM:307800
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Marden-Walker Syndrome
Hypospadias, Arachnodactyly, Short neck, Cryptorchidism, Kyphosis, Radioulnar synostosis, Congeni... OMIM:248700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Wormian bones, De... OMIM:616897
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cryptorchidism, Flexion contracture, Elbow flexio... OMIM:214150
Hemochromatosis, Type 1
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Azoospermia, Impoten... OMIM:235200
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Premature osteoarthritis... OMIM:215150
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Short neck, Joint stiffness, Cryptorchidism, Deep p... ORPHA:1752
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Small hand, Short foot,... ORPHA:96184
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... OMIM:112350
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Del... ORPHA:582
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Tapered finger, Cryptorchidism, Short finger, Decreased testicular size ORPHA:1867
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Osteopenia, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, Cryptorchidism, ... ORPHA:75496
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, Hypoplastic... ORPHA:93315
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Overlapping toe, Down-sloping shoulders, Tapered finger, Short neck, Cryptorchidis... OMIM:617452
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic... ORPHA:1225
Short Stature-Micrognathia Syndrome
Joint laxity, Small scrotum, Rhizomelia, Broad femoral neck, Bowing of the legs, Coxa valga, Cryp... OMIM:617164
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Joint contracture, Scoliosis, Pectus carinatum OMIM:615419
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Overlapping toe, Hypospadias, Limb joint contracture, Tapered finger, Cryptorchidism, Scoliosis OMIM:300004
Arthrogryposis, Distal, Type 2A
Joint dislocation, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion cont... OMIM:193700
Scarf Syndrome
Bifid scrotum, Craniosynostosis, Short neck, Cryptorchidism, Abnormal form of the vertebral bodie... ORPHA:3134
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Hemivertebrae, Micropenis, Dy... OMIM:134780
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Proximal placem... ORPHA:94065
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Genu valgum, Joint hyperflexibility, Shawl scrotum, Cubitus valgus ORPHA:1778
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scoliosis ORPHA:2617
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, Thora... OMIM:619542
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Hypoplasia of the odontoid process, Hip dislocation, Flattened epiphysis,... OMIM:183900
Rothmund-Thomson Syndrome Type 1
Osteopenia, Short metacarpal, Premature ovarian insufficiency, Metaphyseal sclerosis, Cryptorchid... ORPHA:221008
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, 1-4 toe s... OMIM:617201
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Osteopenia, Metaphyseal dysplasia, Hypospadias, Decreased response to growth hormone stimulation ... OMIM:618336
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Cryptorchidism, Patent ductus... OMIM:300963
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Abnormal intervertebral disk morphology, H... ORPHA:887
Cleidocranial Dysplasia 2
Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... OMIM:620099
Trisomy 13
Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormal rib morphology, Patent ductus arte... ORPHA:3378
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... ORPHA:2768
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Kid Syndrome
Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Palmopla... ORPHA:477
Kapur-Toriello Syndrome
Camptodactyly of finger, Single transverse palmar crease, Short neck, Cryptorchidism, Short thumb... OMIM:244300
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Bilateral talipes equinovarus, 2-3 toe syndactyly, Pes valgus, Equinus calcaneus ORPHA:522077
Non-Distal Duplication 13Q
Cryptorchidism, Postaxial hand polydactyly, Arachnodactyly, Narrow chest ORPHA:1702
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism, Sacral dimple OMIM:273390
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Patent ductus arter... OMIM:617159
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Postaxial hand polydactyly, Kyphosis, Sc... ORPHA:2075
Simpson-Golabi-Behmel Syndrome, Type 1
Accelerated skeletal maturation, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... OMIM:312870
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism, Limitation of joint mobility, Hyperlordosis ORPHA:1192
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Flexion contracture, Hypospadias OMIM:618815
6Q25 Microdeletion Syndrome
Camptodactyly of finger, Rocker bottom foot, External genital hypoplasia, Micrognathia, Clinodact... ORPHA:251056
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Hypospadias, Bilateral single transverse palmar creases, Pectus excavatum, Cry... ORPHA:1786
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S... OMIM:268300
Bresek Syndrome
Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Scoliosis, Decreased testicular size ORPHA:85284
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias ORPHA:276422
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Cryptorchidism, Patent ductus arteriosu... OMIM:616300
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Sandal gap, Cryptorchidism, Hip dysplasia, Short palm, Clinodactyly of the 5... ORPHA:228402
3Mc Syndrome 3
Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar syno... OMIM:248340
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Bicoronal synostosis, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Sup... OMIM:619951
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Hip dislocati... ORPHA:2484
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... ORPHA:1427
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle flexion contracture, Taper... ORPHA:435938
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Hypospadias, External genital hypoplasia, Joint stiffne... ORPHA:2588
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Micromelia, Adrenal hypoplasia, Preaxial polydact... OMIM:612651
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Cubitus valgus, Abnormal vagina morphology, Abnorma... ORPHA:247768
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... ORPHA:505237
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentati... OMIM:611209
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Short neck, Pectus excavatum, Cryptorchidism, Genu valgum, Deep palm... ORPHA:1340
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost... OMIM:616723
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Decreased circulating parathyr... OMIM:241530
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... ORPHA:199310
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot OMIM:619072
Trisomy 1Q
Toe syndactyly, Small scrotum, Arachnodactyly, Camptodactyly of finger, Cryptorchidism, Preaxial ... ORPHA:261344
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... OMIM:200600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Cryptorchidism, Abnormal femur morphology, Abnormal fibula morphology, U... ORPHA:2063
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormality of the lower limb, Hypoplasia of the r... ORPHA:245
Microphthalmia, Lenz Type
Finger syndactyly, Abnormal clavicle morphology, Hypospadias, Camptodactyly of finger, Hyperlordo... ORPHA:568
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Marfan Syndrome
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Genu recurvatum, Protrusio a... OMIM:154700
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Rhizomelia, Recu... OMIM:616229
Intellectual Developmental Disorder, Autosomal Dominant 51
Long toe, Cryptorchidism, Unilateral cryptorchidism, Talipes equinovarus OMIM:617788
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short neck, Bilateral cryptorchidism, Coronal hypospadias, Missing ribs, Lumbar hemivertebrae, Ta... OMIM:619859
Tonne-Kalscheuer Syndrome
Hypospadias, Cryptorchidism, Broad thumb, Micropenis, Decreased testicular size, Brachydactyly OMIM:300978
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology, Limitation of... ORPHA:1486
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Pectus carinatum, Hip dysplasia, Scoliosis, Delayed puberty ORPHA:496790
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislo... OMIM:182212
Waardenburg Syndrome, Type 1
Sprengel anomaly, Aplasia of the vagina, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Congenital hip dislocation, Small scrotum, Toe syndactyly, Sandal gap, Short ne... OMIM:609625
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... ORPHA:464288
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Delayed skeletal maturation, Pectus carinatum, Arth... ORPHA:93
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Triangul... ORPHA:73230
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98754
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca... OMIM:618150
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... OMIM:176270
Oculoskeletodental Syndrome
Cryptorchidism, Delayed skeletal maturation, Elbow flexion contracture, Abnormal sternum morpholo... OMIM:618440
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph... OMIM:617425
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus ORPHA:261102
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Fanconi Anemia, Complementation Group P
Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius OMIM:613951
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Camptodactyly of finge... ORPHA:2215
Meier-Gorlin Syndrome 4
Genu recurvatum, Lateral clavicle hook, Cryptorchidism, Delayed skeletal maturation, Patellar apl... OMIM:613804
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Aniridia-Absent Patella Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the patella ORPHA:1069
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Cryptorchidism, Scoliosis, Arthrogryposis m... ORPHA:994
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Rocker bottom foot OMIM:618506
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... ORPHA:56304
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Premature thelarche, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis... ORPHA:371428
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Delayed skele... OMIM:219150
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Crypt... OMIM:613803
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... OMIM:615849
Triploidy
Finger syndactyly, Hypoplasia of penis, Hypospadias, Short neck, Cryptorchidism, Narrow chest, Am... ORPHA:3376
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Delayed skeletal mat... ORPHA:3255
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Joint laxity, Hypospadias, Arachnodactyly, Coxa valga, Elbow dislocation, Cryptorchid... OMIM:620083
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Flat capital femoral epiphysis, ... OMIM:271510
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Barrel-shaped chest, Recurrent fractur... OMIM:610915
Oslam Syndrome
Clinodactyly, Radioulnar synostosis, Radial deviation of finger OMIM:165660
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib morphology, A... ORPHA:2021
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98793
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Abnormal thorax morphology ORPHA:638
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper ... ORPHA:221016
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Aplasia of the parotid gland, Abse... OMIM:149730
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Multiple pterygia, Symphalangism affecting the phalanges of t... ORPHA:2990
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Cryptorchidi... OMIM:617053
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Clinodactyly, Talipes equinovarus, Short neck OMIM:616789
Craniofrontonasal Syndrome
Short neck, Coronal craniosynostosis, Clinodactyly of the 5th finger, Joint laxity, Broad hallux,... OMIM:304110
3Mc Syndrome
Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Craniosynostosis, Hip dislocation,... ORPHA:293843
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... ORPHA:93324
Scarf Syndrome
Bifid scrotum, Barrel-shaped chest, Short neck, Cryptorchidism, Abnormal form of the vertebral bo... OMIM:312830
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Micropenis OMIM:610756
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Cervical ribs ORPHA:66630
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177904
Shprintzen-Goldberg Syndrome
Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ... ORPHA:2462
Intellectual Developmental Disorder, Autosomal Dominant 21
Patent ductus arteriosus, Cryptorchidism, Sacral dimple, Single transverse palmar crease OMIM:615502
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Joint laxity, Diabetes mellitus, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Short 5th... ORPHA:500159
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... ORPHA:436
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177901
Achondrogenesis Type 1B
Micromelia, Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, ... ORPHA:93298
Kbg Syndrome
Syndactyly, Vertebral fusion, Single transverse palmar crease, Short neck, Epispadias, Cryptorchi... OMIM:148050
Blepharonasofacial Malformation Syndrome
Cryptorchidism, Finger syndactyly, Joint hyperflexibility ORPHA:1252
Fetal Akinesia Deformation Sequence 2
Cryptorchidism, Flexion contracture OMIM:618388
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Foot joint contracture, Premature pubarche ORPHA:457205
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Abnormal sperm motility, Female infertility ORPHA:244
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Meta... ORPHA:536471
8P11.2 Deletion Syndrome
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus ... ORPHA:251066
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Hypospadias, Overlapping toe, Pectus excavatum, Cryptorchidism, Long fingers, Patent du... OMIM:618316
Osteogenesis Imperfecta, Type X
Osteopenia, Multiple rib fractures, Bowing of the long bones, Short femur, Rhizomelia, Thoracic s... OMIM:613848
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Luscan-Lumish Syndrome
Long foot, Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries OMIM:616831
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Cryptorchidism, Hip dysplasia, Camptodactyly, Hemihypotrophy of lower limb ORPHA:412035
Retinitis Pigmentosa 59
Cryptorchidism, Micropenis OMIM:613861
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism, Talipes equinovarus OMIM:618917
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Genitopatellar Syndrome
Hip contracture, Small scrotum, Hypoplastic ischia, Hypoplastic ilia, Cryptorchidism, Patellar ap... ORPHA:85201
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Single transverse palmar crease, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Broa... ORPHA:329224
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia,... ORPHA:398069
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism, Delayed skeletal maturation, Joint hypermobility OMIM:619595
Cerebellofaciodental Syndrome
Single transverse palmar crease, Tapered finger, Short neck, Cryptorchidism, Delayed skeletal mat... OMIM:616202
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Pes planus, Anomaly of lower limb diaphyses, Joint dislocation, Arachnodacty... ORPHA:363958
Noonan Syndrome 13
Joint laxity, Prominent metopic ridge, Overlapping toe, Tapered finger, Metatarsus adductus, Cryp... OMIM:619087
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Elbow dislocation, Cryptorchidism, Irregular femoral epiphysis, Patellar... OMIM:613805
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Intellectual Developmental Disorder, X-Linked 12
Hip subluxation, Cryptorchidism, Microphallus, Joint laxity OMIM:300957
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:739
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... OMIM:154400
Blepharophimosis-Impaired Intellectual Development Syndrome
Joint laxity, Hypospadias, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Flexion cont... OMIM:619293
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes e... OMIM:201170
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Recombinant 8 Syndrome
Small scrotum, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Patent ductus arteriosu... ORPHA:96167
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Bartsocas-Papas Syndrome 1
Short neck, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Micropenis, Pt... OMIM:263650
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Short neck, Preco... ORPHA:254346
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hem... ORPHA:77298
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Cryptorchidism, Abnormal rib morphology, Aplasia/Hyp... ORPHA:3301
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
3Mc Syndrome 2
Hypospadias, Limited elbow movement, Craniosynostosis, Cryptorchidism, Hip dislocation, Radioulna... OMIM:265050
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Kyphoscolios... OMIM:309583
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Abnormality of the uter... ORPHA:199
Wiedemann-Steiner Syndrome
Joint laxity, Sacral dimple, Tapered finger, Accelerated skeletal maturation, Cryptorchidism, Sho... OMIM:605130
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Pectus... OMIM:227330
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa... ORPHA:794
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P... OMIM:114290
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f... ORPHA:175
Meckel Syndrome 12
Rocker bottom foot, Micrognathia, Antecubital pterygium, Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Enlarged th... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Enlarged th... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Enlarged th... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Dermatoglyphic ridges abnormal, Reduced bone mineral density, Enlarged th... ORPHA:881
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, Male hypogonadism, Joint co... OMIM:615381
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Branchial Arch Syndrome, X-Linked
Cryptorchidism OMIM:301950
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Pectus excavatum of inferior sternum, Small scrotum, Rocker bottom foot, Tapered finger, Cryptorc... OMIM:601353
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Intellectual Developmental Disorder, Autosomal Dominant 47
Joint laxity, Cryptorchidism, Scoliosis, Supernumerary nipple OMIM:617635
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... ORPHA:2658
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Triphalangeal thumb, Short distal phalanx of finger ORPHA:1912
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Short neck, Cryptor... ORPHA:99776
Van Maldergem Syndrome 2
Bifid scrotum, Osteopenia, Short fourth metatarsal, Cutaneous syndactyly of toes, Cutaneous finge... OMIM:615546
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Cryptorchidism, Short palm ORPHA:73246
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Pectus excavatum, Craniosynostosis ORPHA:314575
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyp... OMIM:619718
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Hypopla... OMIM:311900
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Pectus carinatu... OMIM:617796
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Schwartz-Jampel Syndrome
Micromelia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossifi... ORPHA:800
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho... ORPHA:2050
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of... ORPHA:2759
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Irregular menstruation, Tibial bowing, Femoral bowing... OMIM:616482
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d... ORPHA:453510
Endove Syndrome, Limb-Brain Type
Triangular tibia, Toe syndactyly, Talar aplasia, Aplasia of the 3rd finger OMIM:619218
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... ORPHA:95496
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Sacral dimple, Kyphoscoliosis, Cryptorchidism, Partial duplication of thumb phalan... OMIM:616331
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Pectus excavatum, Cryptorchidism, 2-3 toe syndactyl... ORPHA:314389
Pitt-Hopkins Syndrome
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacral dimple, Supernumerary ni... OMIM:610954
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Hypoth... OMIM:222300
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Hypospadias, Proximal placement of thumb, Short neck, Cryptorchidism, Patent ductus a... OMIM:217980
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused ... ORPHA:1724
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal rib morphology, Anterior hypopituitarism, Central diabetes insipidus... ORPHA:280195
Smith-Kingsmore Syndrome
Rhizomelia, Short proximal phalanx of finger, Cryptorchidism, Deep palmar crease, Thoracic hypopl... OMIM:616638
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad hallux, Tapered finger, Short neck, Cryptorchidism, Short thumb, Pectus excavatum, Hip dysp... OMIM:620224
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Thin ribs, Femo... OMIM:617952
Ritscher-Schinzel Syndrome 4
Ulnar deviation of the hand, Tapered finger, Cryptorchidism, Hip dislocation, Narrow palm, Hip dy... OMIM:619435
Mycetoma
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Abnormal thorax morph... ORPHA:2583
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Tapered finger, C... OMIM:613792
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul... OMIM:610442
Perlman Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Bilateral si... ORPHA:2849
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Cryptorchidism, Patent ductus arteriosus, Talipes equinovarus, Camptodactyly, Decreas... OMIM:608104
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Short neck, Cryptorchidism, Patent ductus arteriosus, Drumstick terminal phalanges, Brachydactyly OMIM:612938
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Mckusick-Kaufman Syndrome
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, Patent ductus a... ORPHA:2473
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Excessive wrinkling of palmar skin OMIM:210700
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E... ORPHA:2554
20Q11.2 Microduplication Syndrome
Bifid scrotum, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Cryptorchidism, Pectus c... ORPHA:363659
Coffin-Siris Syndrome 2
Sandal gap, Cryptorchidism, Delayed skeletal maturation, Short distal phalanx of finger, Brachyda... OMIM:614607
Noonan Syndrome 14
Scapular winging, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Pectus carinatum, Deep ... OMIM:619745
Squalene Synthase Deficiency
Hypospadias, Bilateral cryptorchidism, Elbow flexion contracture, 2-3 toe syndactyly, Knee flexio... OMIM:618156
Distal Duplication 17Q
Hallux valgus, Joint laxity, Rhizomelia, Overlapping toe, Arachnodactyly, Cryptorchidism, Genu va... ORPHA:3379
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Patent ductus ... OMIM:102500
Lig4 Syndrome
Cryptorchidism, Type II diabetes mellitus, Clinodactyly of the 5th finger, Micropenis, Hypothyroi... OMIM:606593
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Short neck, Crypt... ORPHA:251071
Tatton-Brown-Rahman Syndrome
Kyphoscoliosis, Cryptorchidism, Short toe, Patent ductus arteriosus, Widely spaced toes, Neuroend... ORPHA:404443
Allan-Herndon-Dudley Syndrome
Abnormality of thyroid physiology, Kyphoscoliosis, Pectus excavatum, Cryptorchidism, Flexion cont... ORPHA:59
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, Irregular menstruation, 2-3 finger syndactyly, D... OMIM:269500
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Cubitus valgus, Cryptorchidism, Ky... ORPHA:193
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Cryptorchidism, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, ... ORPHA:404440
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... ORPHA:289157
Cri-Du-Chat Syndrome
Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Short neck, Metatarsu... OMIM:123450
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Pectus excavatum, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of th... OMIM:618505
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Flexion contracture, Hypospadias, Camptodactyly of finger ORPHA:1194
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... ORPHA:2008
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Supern... ORPHA:217346
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Single transver... OMIM:300998
Buratti-Harel Syndrome
Broad hallux, Hypospadias, Cryptorchidism, Clinodactyly of the 5th finger, Broad thumb OMIM:619314
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, Abnor... ORPHA:139471
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... ORPHA:1488
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Cryptorchidism, Hip dysplasia, Scoliosis, Prominent fingertip pads, Overlapping ... OMIM:618494
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Short femur, Joint laxity, Single transverse ... OMIM:616145
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Mosaic Trisomy 1
Long toe, Broad toe, Microretrognathia, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt... ORPHA:1692
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly... OMIM:263520
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormal thumb morpholog... ORPHA:1120
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptorchidism, 3-4 finger cutaneous syndacty... OMIM:612530
Cleidocranial Dysplasia
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... ORPHA:1452
Grant Syndrome
Wormian bones, Down-sloping shoulders, Tibial bowing OMIM:138930
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Brachydactyly, Cubitus valgus, Cryptorchidism, Pectus excavatum, Flexion contracture, Short foot,... OMIM:300534
Diphallia
Bifid scrotum, Rectoperineal fistula, Hypospadias, Absent thumb, Epispadias, Cryptorchidism, Peno... ORPHA:227
Ohdo Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Small scrotum, Joint laxity OMIM:249620
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Hypospadias, Sandal gap, Pectus excavatum, Cryptorchidism, Kyphosis, Scoliosis, C... OMIM:617602
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Delayed skeletal maturation, Patent ductus arteriosus, Bell-shaped thorax, Horizo... OMIM:614857
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Radial-Renal Syndrome
Absent radius, Absent thumb OMIM:179280
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Bone Marrow Failure Syndrome 5
Hypogonadism, Delayed skeletal maturation, Testicular atrophy OMIM:618165
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Flexion contracture, Arachnodactyly, Slender toe OMIM:310400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Kyphosis, Pectus excavatum, Flexion contracture, Osteo... ORPHA:3042
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Developmental And Epileptic Encephalopathy 95
Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... OMIM:618143
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Cryptorchi... ORPHA:783
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Sirenomelia
Ambiguous genitalia, Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia ORPHA:3169
Cog5-Cdg
Camptodactyly of finger, Short neck, Cryptorchidism, Genu valgum, Finger clinodactyly, Micropenis... ORPHA:263487
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Cryptorchidism, Flexion contracture, Hypoplastic labia majora, Mi... OMIM:614225
Radio-Renal Syndrome
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... ORPHA:3015
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypoplasia of t... OMIM:609053
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh... OMIM:227650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Postaxial polydactyly, Short neck, Lateral clavicle hook, Pre... OMIM:617925
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Short neck, Cryptorchidism, Arthrogryposis-like hand anomaly... ORPHA:369891
Noonan Syndrome 8
Short neck, Cryptorchidism, Patent ductus arteriosus, Abnormal sternum morphology, Palmoplantar c... OMIM:615355
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... OMIM:617137
Intellectual Developmental Disorder, Autosomal Recessive 65
Prominent metopic ridge, Hypospadias, Supernumerary nipple, Cryptorchidism, Contracture of the pr... OMIM:618109
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Short neck, Precocious puberty, Cryptorchidism, Long fingers, Pectus e... ORPHA:96092
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Cryptorchidism, Delayed skeletal ... ORPHA:2323
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias OMIM:620135
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Cryptorch... ORPHA:96170
Ohdo Syndrome, X-Linked
Small scrotum, Overlapping toe, Ulnar deviation of the hand, Cryptorchidism, Short thumb, Micrope... OMIM:300895
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Rocker bottom foot, Decreased response... ORPHA:363528
Trisomy 20P
Finger syndactyly, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Preaxial han... ORPHA:261318
Baraitser-Winter Syndrome 1
Short neck, Cryptorchidism, Patent ductus arteriosus, Duplication of phalanx of hallux, Micropenis OMIM:243310
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, 2-3 toe syndactyly, Cl... ORPHA:3304
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Pat... ORPHA:46627
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... ORPHA:95706
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Hip dysplasia, Posterior scalloping ... OMIM:619698
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Abnormal vertebral morphology ORPHA:88639
Macs Syndrome
Joint laxity, Hypergonadotropic hypogonadism, Single transverse palmar crease, Pectus excavatum, ... OMIM:613075
Toluene Embryopathy
Cryptorchidism, Tapered finger ORPHA:1920
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Rocker bottom foot, Craniosynostosis, Coxa valga, Cryptorchidism, Postaxial hand pol... OMIM:301056
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Cryptorchidism OMIM:618067
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Cryptorchidism, Flexion contracture, Single transverse palmar crease OMIM:608093
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Short thumb,... OMIM:603467
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Joint hypermobility, Supernumerary nipple OMIM:619243
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... OMIM:206900
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Hypospadias, Pectus excavatum, Cryptorchidism, Kyphosis, Hip di... ORPHA:96169
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618117
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Toe syndactyly, Hypoplasia of the radius, Bicornuate uterus, Labial hypoplasia, Clinodactyly of t... ORPHA:140952
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Recurrent fract... OMIM:231070
Noonan Syndrome 5
Cubitus valgus, Cryptorchidism, Abnormal sternum morphology, Short neck OMIM:611553
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... OMIM:608800
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, Recurrent ... OMIM:618188
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft... OMIM:154780
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Kyphoscoliosis, Recurrent fractures, Pectus excavatum, Cry... ORPHA:3063
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Ohdo Syndrome, Sbbys Variant
Hypospadias, Cryptorchidism, Patellar dislocation, Long thumb, Hypothyroidism, Long hallux OMIM:603736
Schuurs-Hoeijmakers Syndrome
Patent ductus arteriosus, Cryptorchidism, Large hands OMIM:615009
Spondyloocular Syndrome
Long toe, Osteopenia, Arachnodactyly, Unilateral cryptorchidism, Femur fracture, Overlapping toe,... OMIM:605822
Charge Syndrome
Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, External ... OMIM:214800
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Increased femoral anteversion, Congenital hypothyroidism, Hip dysplasia, Clinodac... OMIM:617930
Noonan Syndrome 6
Pectus excavatum, Cryptorchidism, Abnormal sternum morphology, Short neck OMIM:613224
Cystic Fibrosis
Osteopenia, Absent vas deferens, Osteoporosis ORPHA:586
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Pancreatic cysts, Abnormal t... ORPHA:1318
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Short neck, Cryptorchidism, Abno... ORPHA:284160
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... OMIM:619879
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Hypogonadis... ORPHA:500055
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly OMIM:615824
Suleiman-El-Hattab Syndrome
Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Brachydactyly OMIM:618950
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Short foot, Joint... ORPHA:250989
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis OMIM:620071
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, ... OMIM:264480
Basal Cell Nevus Syndrome 1
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Irregular... OMIM:109400
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Short neck, Tibial bowing, Femoral bowing, Knee... OMIM:601559
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Short tubular bones of the hand, Vertebra... ORPHA:85184
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Abnor... ORPHA:352540
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Prominent metopic ridge, Hypospadias, Overlapping toe, Single transverse palmar cr... OMIM:619148
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Spina bifida occulta OMIM:618060
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Delayed skele... OMIM:610733
Gracile Bone Dysplasia
Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Decreased skull ossification, Brachy... OMIM:602361
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Proximal muscle weakness in upper limbs, Thin ribs ORPHA:169189
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... ORPHA:168558
Schimke Immunoosseous Dysplasia
Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism, E... OMIM:242900
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Joint laxity, Hypospadias, Sagittal craniosynostosis, Bowing of the legs, ... OMIM:617063
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Small scrotum, Single transverse palmar crease, Short neck, Cryptorchidi... ORPHA:495818
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs OMIM:122860
Kury-Isidor Syndrome
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... OMIM:619762
Diabetic Embryopathy
Cryptorchidism, Abnormal sacrum morphology, Vertebral segmentation defect, Micropenis, Abnormal m... ORPHA:1926
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:617690
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Craniosynostosis, Abnormality of the endocrine system, Cryptorch... ORPHA:166035
Ogden Syndrome
Cryptorchidism, Broad hallux, Delayed cranial suture closure, Scoliosis ORPHA:276432
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Microp... OMIM:616894
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Short neck, Cryptorchidism, Camptodactyly, Micropenis, Absent palma... OMIM:614230
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Epispadias, Cr... OMIM:258040
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum, Camptodactyly of finger, Scoliosis ORPHA:1968
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Adducted thumb ORPHA:89844
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Hip dysplasia, Hypospadias, Scoliosis ORPHA:494344
Fg Syndrome Type 1
Finger syndactyly, Broad toe, Sacral dimple, Hypospadias, Single transverse palmar crease, Limite... ORPHA:93932
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Increased bone mineral density ORPHA:1237
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Talipes equinovarus ORPHA:250999
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Short neck, Epispadias, Hemivertebrae, Coxa vara, Abnormal form ... ORPHA:3107
Peroxisome Biogenesis Disorder 2A (Zellweger)
Single transverse palmar crease, Metatarsus adductus, Cryptorchidism, Hypoplasia of the thymus, T... OMIM:214110
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Narrow chest, Short neck ORPHA:93299
Lateral Meningocele Syndrome
Prominent metopic ridge, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Pectus excavatum, A... ORPHA:2789
Noonan Syndrome
Hypogonadotropic hypogonadism, Pectus excavatum, Cryptorchidism, Delayed skeletal maturation, Pec... ORPHA:648
Tarp Syndrome
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Mi... ORPHA:2886
Cornelia De Lange Syndrome 1
Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognath... OMIM:122470
Congenital Myopathy 9A
Cryptorchidism OMIM:618822
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Supernumerary nipple, Tapered finger, Cryptorchidism, Short thumb, Chordee, Clinodactyly of the 5... OMIM:616728
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Leopard Syndrome 1
Scapular winging, Hypospadias, Kyphoscoliosis, Short neck, Missing ribs, Cryptorchidism, Limited ... OMIM:151100
Vacterl With Hydrocephalus
Absence of the sacrum, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, ... ORPHA:3412
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... ORPHA:583
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia OMIM:266810
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... OMIM:269300
Aymé-Gripp Syndrome
Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Cryptorchidism, Pa... ORPHA:1272
Cohen-Gibson Syndrome
Osteopenia, Joint laxity, Coxa valga, Accelerated skeletal maturation, Long fingers, Cryptorchidi... OMIM:617561
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Flexion... OMIM:227645
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi... OMIM:269150
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism OMIM:613730
Craniofacioskeletal Syndrome
Barrel-shaped chest, Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, S... OMIM:300712
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Small hand, Abnormal rib morphology, Short f... ORPHA:488434
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Pectus excavatum, Cryptorchidism, Abnormality of th... ORPHA:2673
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis OMIM:618504
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Patent ductus arteriosus, Short ... OMIM:269860
Musculocontractural Ehlers-Danlos Syndrome
Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosis, Tapered finger, Decreased palmar ... ORPHA:2953
Robinow Syndrome
Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic... ORPHA:97360
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Small scrotum, Cryptorchidism, Flexion contracture, Shoulder girdle muscle weakness... ORPHA:98905
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Split hand, Clubbing, Shawl scrotum, Micro... OMIM:600460
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis, Hemivertebrae,... OMIM:301040
Hydrolethalus
Cryptorchidism, Postaxial hand polydactyly, Micromelia, Abnormal fallopian tube morphology ORPHA:2189
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Cryptorchidism, Male urethral meatus stenosis, Hypoplastic nipples, Bilateral sing... OMIM:616001
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5t... OMIM:136140
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:610198
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Cryptorchidism, Kypho... OMIM:610443
Tyshchenko Syndrome
Pectus excavatum, Cryptorchidism, Narrow chest, Supernumerary nipple OMIM:615102
X-Linked Lissencephaly With Abnormal Genitalia
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Patent ductus arteriosus ORPHA:452
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Abnormal... ORPHA:1812
Takenouchi-Kosaki Syndrome
Hypospadias, Overlapping toe, Proximal placement of thumb, Tapered finger, Cryptorchidism, Patent... OMIM:616737
Hamamy Syndrome
Long toe, Syndactyly, Hypoparathyroidism, Osteopenia, Down-sloping shoulders, Recurrent fractures... OMIM:611174
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Bilateral single transve... ORPHA:488642
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Arachnodactyly, Rocker bottom foot OMIM:271225
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp... ORPHA:2636
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Bilateral single transv... OMIM:618804
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Primary amenorrhea, B... ORPHA:69085
Lig4 Syndrome
Hypoplasia of penis, Cryptorchidism, Type II diabetes mellitus, Clinodactyly of the 5th finger, H... ORPHA:99812
Cockayne Syndrome Type 2
Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Male hypogonadism ORPHA:90322
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... OMIM:208150
Nablus Mask-Like Facial Syndrome
Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short neck, Cryptorchi... OMIM:608156
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism OMIM:619908
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Cryptorchidism, Postaxial hand polydactyly, Pancreatic lymphangiectasis, Abnormality ... ORPHA:1655
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Thyroid lymphangiectasia, Hypoplastic iliac wing, Cryptorchidism, Delayed skeletal maturation, Pe... OMIM:235510
Lymphangiectasia, Intestinal
Prominent floating ribs OMIM:152800
Opitz-Kaveggia Syndrome
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Hypospadias, Broad hallux, Single transverse pal... OMIM:305450
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Ulnar deviation of finger, Talipes equ... ORPHA:1101
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Coronal craniosynostosis, Small scrotum, Hypogonadism ORPHA:228390
Noonan Syndrome 9
Cryptorchidism, Short neck OMIM:616559
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Prominent metopic ridge, Hyperthyroidism, Decreased response to grow... ORPHA:488632
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Supernumerary nipple, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, El... OMIM:619194
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
Noonan Syndrome With Multiple Lentigines
Scapular winging, Hypospadias, Pectus excavatum, Cryptorchidism, Decreased fertility, Pectus cari... ORPHA:500
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Genu recurvatum, Cryptorchidism, Kyphosis, Scoliosis, Micropenis ORPHA:364028
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Micrognathia, Rocker bottom foot, Camptodactyly OMIM:604273
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Aplasia/... ORPHA:1521
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Calcaneovalgus deformity, Webbed penis, Micropenis, Long hallux, Long toe, Syndact... ORPHA:261537
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Clinodactyly of the 5th finger, Sp... ORPHA:235
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Complet... OMIM:600901
Native American Myopathy
Joint laxity, Cryptorchidism, Abnormal curvature of the vertebral column, Congenital contracture,... ORPHA:168572
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Small scrotum, Toe syndactyly, Anterior pituitary hypoplasia, Adrenal hypoplas... ORPHA:264200
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Cryptorchidism, Kyphosis, Patent ductus arteriosus, Jo... OMIM:609029
Kleefstra Syndrome 1
Hypospadias, Single transverse palmar crease, Cryptorchidism, Tracheobronchomalacia, Talipes equi... OMIM:610253
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300554
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Pectus excavatum, Cryptorchidism, Kyphosis, Patent ductus arteriosu... OMIM:130720
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Flexion contracture, Micropenis, Decreased testicular size OMIM:615663
Sotos Syndrome
Joint laxity, Accelerated skeletal maturation, Cryptorchidism, Patent ductus arteriosus, Long met... OMIM:117550
Bachmann-Bupp Syndrome
Clinodactyly of the 5th finger, Cryptorchidism OMIM:619075
Micro Syndrome
Hypoplasia of penis, Joint stiffness, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitora... ORPHA:2510
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Flexion... OMIM:210710
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Cryptorchidism, Genu valgum, Micropenis, Joint hypermobility OMIM:617798
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Short neck, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand... OMIM:235255
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Bilateral crypto... OMIM:617746
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Accelerated skel... OMIM:130070
Costello Syndrome
Short neck, Cryptorchidism, Delayed skeletal maturation, Ulnar deviation of finger, Joint hyperfl... ORPHA:3071
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Achilles te... OMIM:301041
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Patent ductus arteriosus, Hypospadias OMIM:218350
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... ORPHA:96182
Noonan Syndrome 1
Male infertility, Pectus excavatum of inferior sternum, Hypospadias, Kyphoscoliosis, Short neck, ... OMIM:163950
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Short neck, Limited... OMIM:610759
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... ORPHA:1827
X-Linked Intellectual Disability, Seemanova Type
Cryptorchidism, Hypogonadism ORPHA:85323
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Hypospadias, Overlapping toe, Cryptorchidism, Cutaneous finger syndactyly, Clinoda... OMIM:613026
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Cryptorchidism, Short toe, Patent... OMIM:139210
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Patent ductus arteriosus, Craniosynostosis, Brachydactyly ORPHA:457193
Monosomy 9P
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... ORPHA:261112
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra, Hip dislocation OMIM:300322
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pes planus, Hypergonadotropic hypogonadism, Rocker bottom foot, Camptodactyly of f... OMIM:602782
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han... OMIM:236700
Mowat-Wilson Syndrome
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Pes planus, Bifid... ORPHA:2152
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated skeletal maturation, Ver... ORPHA:373
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Cryptorchidism, Posterior w... OMIM:607812
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Short neck, Femoral bowing, Short long bone, Broad ribs, Hypoplas... OMIM:617022
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Scoliosis, Hemiatrophy, Hypophosphatemic ri... ORPHA:2874
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Talipes equinovarus, Metatarsus valgus ORPHA:261236
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... ORPHA:95494
Pontocerebellar Hypoplasia, Type 10
Cryptorchidism, Short neck, Kyphoscoliosis, Tapered finger OMIM:615803
Jacobsen Syndrome
Hypospadias, Short neck, Missing ribs, Cryptorchidism, Pectus excavatum, Flexion contracture, Cli... OMIM:147791
Chromosome 18Q Deletion Syndrome
Joint laxity, Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of thumb, Overl... OMIM:601808
Hallermann-Streiff Syndrome
Wormian bones, Abnormality of the hand, Hyperlordosis, Pectus excavatum, Cryptorchidism, Metaphys... OMIM:234100
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Tracheomalacia, Delayed closure of the anterior fontanelle, Thoracolumbar kyphosi... OMIM:300373
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Diabetes mellitus OMIM:249270
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, ... OMIM:601812
Developmental And Epileptic Encephalopathy 29
Hip dislocation, Rocker bottom foot OMIM:616339
Bloom Syndrome
Syndactyly, Decreased fertility in females, Cryptorchidism, Azoospermia, Hand polydactyly, Type I... OMIM:210900
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... ORPHA:233
Noonan Syndrome 2
Short neck, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Pectus carinatum, Shield ... OMIM:605275
Mosaic Trisomy 16
Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Short femoral neck, Clinod... ORPHA:1708
Werner Syndrome
Rocker bottom foot, Small hand, Decreased fertility, Secondary amenorrhea, Ovarian neoplasm, Hypo... ORPHA:902
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Hypospadias, Arachnodacty... ORPHA:280
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Cryptorchidism, Kyphosis, Hip dysplasia, Scoliosis ORPHA:261250
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Cryptorchidism, 2-3 toe syndactyly, Coronal cleft vertebrae,... OMIM:620025
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Calcaneovalgus deformity, Webbed penis, Micropenis, Long hallux, Long toe, Syndact... ORPHA:261552
De Barsy Syndrome
Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior fontanell... ORPHA:2962
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Rocker bottom foot, Proximal placement of ... OMIM:229850
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ankle flexion contracture, Tapered finger, Pectus excavatum, Cryptorchidism, Short t... ORPHA:464311
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger OMIM:118450
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Craniosynostosis, Cryptorchidism, Hip dislocation, Elbow flexion contrac... ORPHA:3132
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Sacral dimple, Clinodactyly of ... ORPHA:264450
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal maturation, Bilatera... OMIM:602535
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:174300
Melnick-Needles Syndrome
Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Co... OMIM:309350
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Bone p... ORPHA:666
Robinow Syndrome, Autosomal Dominant 1
Short neck, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of han... OMIM:180700
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Upper limb asymmetry, Abnormality of the scrotum ORPHA:2505
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Single transver... OMIM:214100
Chromosome 15Q25 Deletion Syndrome
Long fingers, Cryptorchidism, Pectus excavatum, Short neck OMIM:614294
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism OMIM:617575
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Hip dislocation, Oste... OMIM:614438
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Anterior pituitary hypoplasia, Multip... ORPHA:464306
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... ORPHA:857
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Joint stiffness, Cryptorchidism, Male pseudohermaphrodi... ORPHA:847
Fryns Syndrome
Hypospadias, Short neck, Cryptorchidism, Bicornuate uterus, Narrow chest, Clinodactyly of the 5th... ORPHA:2059
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific... ORPHA:785
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Micropenis, Aplasia/hy... ORPHA:672
Noonan Syndrome 10
Short neck, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Pectus carinatum, Scolios... OMIM:616564
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short... OMIM:613458
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pes planus, Micrognathia, Rocker bottom foot, Tapered finger OMIM:620070
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Vertebral clefting, Small h... ORPHA:2322
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Sandal gap, Hypospadias, Proximal placement of thum... ORPHA:79324
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Abnormal form of the vertebral bodies, Vertebral fusion, Hypospa... OMIM:194190
Trisomy 18
Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Delayed skeletal maturation,... ORPHA:3380
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Kyphosis, Delaye... ORPHA:85199
Au-Kline Syndrome
Sacral dimple, Prominent metopic ridge, Overlapping toe, Thoracolumbar scoliosis, Postaxial polyd... OMIM:616580
Orofacial Cleft 15
Cryptorchidism, Single transverse palmar crease OMIM:616788
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Single transverse palmar crease, Cryptorchidism, Deep palmar crease, Polydactyly, ... OMIM:247200
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Supernumerary nipple, Tapered finger, Accelerated skeletal maturation, Cryptorch... OMIM:618653
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Aplasia/Hypoplasia of the radius, Displacement of the urethral meatu... ORPHA:2973
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Cryptorchidism, Abnormal pelvis bone oss... ORPHA:93271
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Coxa... OMIM:614976
Vater/Vacterl Association
Syndactyly, Hypospadias, Absent radius, Short thumb, Patent ductus arteriosus, Hypoplasia of the ... OMIM:192350
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Chops Syndrome
Cryptorchidism, Patent ductus arteriosus, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachy... OMIM:616368
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality of the elbow, Abno... ORPHA:93473
Distal Deletion 3P
Sacral dimple, Short neck, Cryptorchidism, Postaxial hand polydactyly, Clinodactyly of the 5th fi... ORPHA:1620
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Mucolipidosis Ii Alpha/Beta
Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoid process, Split han... OMIM:252500
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protru... OMIM:610682
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypoplasia OMIM:601162
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Single transverse palmar crease, Rocker bottom foot, Adducted thumb OMIM:618622
Meier-Gorlin Syndrome 6
Sandal gap, Decreased response to growth hormone stimulation test, Cryptorchidism, Delayed skelet... OMIM:616835
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Joint laxity, Anterior pituitary hypoplasia, Supernumerary nipple, Kyphoscoliosis,... ORPHA:466791
Chromosome 17Q12 Deletion Syndrome
Long toe, Micrognathia, Long fingers, Cryptorchidism, Upper limb undergrowth, Short foot, Ovarian... OMIM:614527
Pitt-Hopkins Syndrome
Single transverse palmar crease, Supernumerary nipple, Tapered finger, Short neck, Cryptorchidism... ORPHA:2896
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi... ORPHA:818
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300009
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger OMIM:239300
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Elevated circulating luteinizing hormone level, Bifid distal pha... OMIM:618419
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Pontocerebellar Hypoplasia, Type 7
Single transverse palmar crease, Cryptorchidism, Pectus carinatum, Ambiguous genitalia, Micropenis OMIM:614969
Pyknoachondrogenesis
Abnormal intramembranous ossification, Micromelia, Short iliac bones, Horizontal ribs, Short thor... ORPHA:3003
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Delayed skeletal maturation,... ORPHA:2326
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Hypospadias, Short neck, Cryptorchidism, Short sternum, Ambiguous genitalia, Micro... OMIM:257300
Genitopatellar Syndrome
Hip contracture, Small scrotum, Congenital hip dislocation, Enlarged labia minora, Hypoplastic is... OMIM:606170
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobility, Bowing of the legs OMIM:114000
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidism, Uterus di... OMIM:618820
Ochoa Syndrome
Cryptorchidism ORPHA:2704
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxia... OMIM:227646
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Long fingers, Cryptorchidism, Kyphosis, 2-3 toe syn... ORPHA:401973
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Cryptorchidism, Long fingers, Distal arthrogryposis, Patellar dislocat... OMIM:617557
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Single transverse palmar crease, Short neck, Tapered finger, Cryptorchidi... ORPHA:444072
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Long fingers, Cryptorchidism, Kyphosis, 2-3 toe syn... OMIM:300960
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... OMIM:259770
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Cryptorchidism, Hip dysplasia, Cut... OMIM:616078
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u... OMIM:107480
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism OMIM:620012
Floating-Harbor Syndrome
Enlarged joints, Short neck, Humeral pseudarthrosis, Dislocated radial head, Short metacarpal, Hy... ORPHA:2044
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Kyphosis, Increased femoral anteversion, Scoliosis, Micropenis OMIM:619005
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Bilateral talipes equinovarus, Apl... OMIM:614083
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Pectus excavatum, Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density ORPHA:935
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Hypothyroidism ORPHA:85321
Dyskeratosis Congenita, Autosomal Dominant 3
Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Osteoporosis OMIM:613990
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Kyphoscoliosis, Cryptorchidism, Short thumb, Small hand, Osteoporosis... OMIM:268400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagin... ORPHA:457284
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Fibula... ORPHA:85165
Hatipoglu Immunodeficiency Syndrome
Cryptorchidism, Hypospadias, Hemivertebrae OMIM:620331
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus, Hydrometrocolpos, Ap... OMIM:617088
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Palmar pits, Kyphosis, Accelerated skeletal maturation, Pectus excav... ORPHA:77301
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... ORPHA:163979
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Kyphosis OMIM:619244
Carey-Fineman-Ziter Syndrome 1
Spinal rigidity, Tapered finger, Cryptorchidism, Flexion contracture, Pectoralis hypoplasia, Tali... OMIM:254940
Microphthalmia, Syndromic 5
Joint laxity, Cryptorchidism, Micropenis, Ectopic posterior pituitary OMIM:610125
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali... ORPHA:90794
Nicolaides-Baraitser Syndrome
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... OMIM:601358
Hallermann-Streiff Syndrome
Recurrent fractures, Tracheomalacia, Cryptorchidism, Small hand, Reduced bone mineral density, Sh... ORPHA:2108
Kinsship Syndrome
Osteopenia, Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Hip dislocati... OMIM:619297
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Tapered finger, Short neck, Cryptorchidism, Long fingers, Pectus exca... OMIM:616734
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Biliary hyperpl... ORPHA:83617
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Short 2nd toe, Hip dysplasia, Clinodactyly of the 5th finger OMIM:612582
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Agonadism, Abnormality of the uterus, Ambi... ORPHA:991
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryp... OMIM:613457
X-Linked Mandibulofacial Dysostosis
Pectus excavatum, Cryptorchidism ORPHA:1131
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Limb joint contracture OMIM:620327
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cryptorchidism, Small scrotum, Abnormal palmar dermatoglyphics ORPHA:2728
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Cryptorchidism, Scoliosis, Cu... OMIM:601321
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Toriello-Carey Syndrome
Short neck, Cryptorchidism, Patent ductus arteriosus, Narrow chest, Clinodactyly, Brachydactyly ORPHA:3338
Walker-Warburg Syndrome
Metatarsus valgus, Cryptorchidism, Hypoplasia of penis ORPHA:899
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Cryptorchidism, Limitation of joint mobil... ORPHA:261494
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosis, Hip dislocation,... OMIM:309000
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Short neck, Pectus excavatum, Cryptorchidism, Finger joint hypermobility, Cubitus v... OMIM:613563
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Overlapping toe, Craniosynostosis, Tapered finger, Pectus excavatum, Cryptorchidism,... OMIM:309590
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Rocker bottom foot, Micrognathia, Hip dislocation, Elbow flexion contracture, H... OMIM:618947
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Clinodactyly, Limb undergrowth, Micropenis, Hypothyroidism OMIM:616541
7Q11.23 Microduplication Syndrome
Sacral dimple, Hypospadias, Single transverse palmar crease, Craniosynostosis, Short neck, Pectus... ORPHA:96121
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Cryptorchidism, Osteopenia OMIM:620365
Cranioectodermal Dysplasia 1
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... OMIM:218330
C Syndrome
Joint dislocation, Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Mic... ORPHA:1308
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short neck, Missing ribs, Cryptorchidism... ORPHA:2308
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... ORPHA:99646
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Hypospadias, Single transverse palmar crease, Crypt... ORPHA:1596
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Brachydactyly, Pectus excavatum, Cryptorchidism, Short toe, Patent ductus arte... ORPHA:1519
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia OMIM:616038
1P36 Deletion Syndrome
Hypoplasia of penis, Clinodactyly of the 5th finger, Hypothyroidism, Hypospadias, Cryptorchidism,... ORPHA:1606
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Micropenis, Streak ovary, Hy... ORPHA:798
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypospadias, Supernumerary nipple, Tapered finger, Cryptorchidism, Short thumb, Chordee, Clinodac... ORPHA:477993
Deeah Syndrome
Cervical hemivertebrae, Decreased response to growth hormone stimulation test, Anterior pituitary... OMIM:619004
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Short neck, Cryptorchidism, Male pseudohermaphroditism, Patent ductus arteriosus, Sh... ORPHA:2282
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormal thumb morphology, Cryptorchidism, Limitation of joint mobility, Arachnodactyly ORPHA:2719
Congenital Myopathy 13
Kyphoscoliosis, Cryptorchidism, Flexion contracture, Bilateral talipes equinovarus, Scoliosis OMIM:255995
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... OMIM:230500
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, 2-3 toe cutaneous syndactyly, Patent ductus ... OMIM:618454
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Hypospadias, Camptod... ORPHA:468631
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig... OMIM:305600
Dextrocardia
Abnormal reproductive system morphology, Pancreatic hypoplasia, Congenital hip dislocation, Abnor... ORPHA:1666
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus, Vertebral fusion ORPHA:3109
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Reduced bone miner... OMIM:616682
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Congenital hip dislocation, Pancreatic steatosis, Cryptorchidism, Reduced ... OMIM:617052
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... ORPHA:1163
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Craniosynostosis, Palmoplantar cutis gyrata, Cryptorchidism, Palmoplantar keratode... ORPHA:1555
Diamond-Blackfan Anemia 1
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... OMIM:105650
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Thin ribs OMIM:312150
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Met... OMIM:272950
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormalit... ORPHA:3157
Autosomal Recessive Hypophosphatemic Rickets
Increased bone mineral density, Osteomalacia, Rickets of the lower limbs, Craniosynostosis, Abnor... ORPHA:289176
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ... ORPHA:521426
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, External genital hypoplasia, Postaxial polydactyly, Camptod... OMIM:249000
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal tibia morphology, Patent d... ORPHA:138
Hartsfield Syndrome
Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Ectrodactyly,... OMIM:615465
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Congenital hip dislocation, Wormian bones, Delayed cranial suture c... OMIM:278250
Cole-Carpenter Syndrome 2
Pectus excavatum, Kyphosis, Platyspondyly, Thin ribs OMIM:616294
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Flexion contractu... OMIM:180849
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly,... ORPHA:2166
Cerebrocostomandibular Syndrome
Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl... OMIM:117650
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D... OMIM:236680
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormal rib morpholog... ORPHA:2907
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hypospadias OMIM:601499
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Prominent metopic ridge, Craniosynostosis, Cryptorchidism, Hip dysplasia, Vertebral s... ORPHA:453499
Tetrasomy 9P
Joint dislocation, Absent gallbladder, Sacral dimple, Hypoplastic scapulae, Aplasia/Hypoplasia of... ORPHA:3310
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism OMIM:300578
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Toe syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, Cryp... ORPHA:459070
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Prominent metopic ridge, Congenital hip dislocation, Cryptorchidism, Long fingers, Hypoplastic co... OMIM:619512
Martin-Probst Syndrome
Bifid scrotum, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroidism OMIM:300519
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Thin ribs OMIM:253290
Acrocallosal Syndrome
Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, Tapered finger, Bif... OMIM:200990
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Craniosynostosis, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Sma... OMIM:620005
Microphthalmia, Syndromic 2
Hypospadias, Broad hallux, Septate vagina, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndacty... OMIM:300166
Coffin-Siris Syndrome
Joint laxity, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturation,... ORPHA:1465
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Joint laxity, Kyphoscoliosis, Cryptorchidism, Kyphosis, Patent ductus arteriosus, ... OMIM:300967
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Anterior pituitary hypoplasia, Sing... OMIM:619841
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Osteomalacia, Cryptorchidism, Abnormal rib morphology, Azoospermia, Joint hy... ORPHA:534
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Hip dysplasia, Joint contracture, Tali... OMIM:617403
Meckel Syndrome
Bowing of the long bones, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchi... ORPHA:564
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Toe syndactyly, Camptodactyly of finger, Tapered finger, Cryptorchidism, Patent du... ORPHA:261337
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Pectus carinatum, Hypo... OMIM:612541
Adnp Syndrome
Joint laxity, Broad hallux, Sandal gap, Single transverse palmar crease, Abnormal toe morphology,... ORPHA:404448
Primrose Syndrome
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... OMIM:259050
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Short foot, Limit... ORPHA:85276
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Short neck, Single t... OMIM:261540
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus, Shawl scrotum ORPHA:261265
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Cockayne Syndrome A
Hip contracture, Cryptorchidism, Kyphosis, Limitation of joint mobility, Irregular menstruation, ... OMIM:216400
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Precocious puberty, Cryptorchidism, Abnormality of the endo... ORPHA:636
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Hypospadias, Lower extremity joint dislocation, Cryptorchidism, Patent ductus ar... ORPHA:163956
Elsahy-Waters Syndrome
Bifid scrotum, Hypospadias, Bilateral cryptorchidism, Pectus excavatum, Shortening of all phalang... OMIM:211380
Noonan Syndrome 3
Sagittal craniosynostosis, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Delayed sk... OMIM:609942
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of the anterior fontanell... ORPHA:2834
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, Clinodact... OMIM:309580
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hip dysp... OMIM:616975
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fi... OMIM:617527
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Abnormal fallopi... ORPHA:3097
Kagami-Ogata Syndrome
Bell-shaped thorax, Long clavicles, Kyphoscoliosis, Thin ribs OMIM:608149
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Metaphyseal widening, Delayed skeletal maturation, Rickets, ... OMIM:219800
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr... OMIM:216340
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs OMIM:618265
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Broad hallux, Sandal gap, Decreased response to growth hormone stimulation test, Ta... OMIM:615873
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necrosis of the capital femo... ORPHA:3342
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Broad hallux phalanx, Sacral dimple, Sandal gap, Single transverse palmar crease, Cra... ORPHA:363611
Dubowitz Syndrome
Syndactyly, Sacral dimple, Hypospadias, Single transverse palmar crease, Cryptorchidism, Delayed ... OMIM:223370
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Camptodactyly of finger, Thyroid agenesis, Cryptorchidism, Patent ductus arte... ORPHA:3047
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... OMIM:270400
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Cryptorchidism, Hip dislo... OMIM:613884
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Phimosis, Flexion contracture, Abnormal rib morpholog... ORPHA:2908
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Hypospadias, Single transverse palmar crease, Tapered finger, Cryptorchidism, Short th... OMIM:619522
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Short neck, Bilateral cryptorchidism, Epispadias, Postaxia... ORPHA:434179
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Joint laxity, Arachnodactyly, Pectus excavatum, Cryptorchidism, Generalized jo... OMIM:601776
Coffin-Siris Syndrome 12
Joint laxity, Hypospadias, Hip subluxation, Cryptorchidism, Short thumb, Slender finger, Pectus e... OMIM:619325
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Small hand, Fib... ORPHA:444077
Diets-Jongmans Syndrome
Cryptorchidism, Hip dysplasia, Hypospadias, Joint hypermobility OMIM:618846
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Joint laxity, Short neck, Cryptorchidism, Deep palmar crease, Abnormal sternum morphology, Cubitu... OMIM:607721
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Prominent metopic ridge, Hypospadias, Craniosynostosis, Cryptorc... ORPHA:2745
Coffin-Siris Syndrome 1
Single transverse palmar crease, Prominent interphalangeal joints, Clinodactyly of the 5th finger... OMIM:135900
Orofaciodigital Syndrome Xiv
Broad hallux, Epispadias, Cryptorchidism, Postaxial hand polydactyly, Preaxial polydactyly, Paten... OMIM:615948
Faundes-Banka Syndrome
Premature thelarche, Cryptorchidism, Lumbar hemivertebrae, Delayed puberty, Flexion contracture o... OMIM:619376
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Supernumerary nipple, S... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Supernumerary nipple, S... ORPHA:352665
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum, Long toe, Hy... OMIM:264090
Barber-Say Syndrome
Absent nipple, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Talipes equino... OMIM:209885
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to gro... OMIM:604292
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Thin ribs ORPHA:171430
Loeys-Dietz Syndrome
Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn... ORPHA:60030
Congenital Myopathy 22B, Severe Fetal
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Short neck, Pectus excavatum,... OMIM:620369
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypogo... OMIM:614231
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Orofaciodigital Syndrome Type 1
Finger syndactyly, Tarsal synostosis, Micrognathia, Pancreatic cysts, Preaxial hand polydactyly, ... ORPHA:2750
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia ORPHA:2250
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Toe syndactyly, Cryptorchidis... ORPHA:2052
Lethal Congenital Contracture Syndrome 5
Thin ribs OMIM:615368
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Tracheomalacia, Cryptorchidism, Patent ductus arteriosu... OMIM:618280
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Small scrotum, Female hypogonadism, Toe syndactyly, Adrenal... OMIM:607932
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Ehlers-Danlos Syndrome, Vascular Type
Pectus excavatum, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Osteoly... OMIM:130050
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Delayed clos... OMIM:607872
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Pectus excavatum... ORPHA:565
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Rib f... OMIM:213980
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, Cryptorchidism, Congenital hy... OMIM:147920
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Short hallux, Cryptorchidism, ... OMIM:620305
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Bone pain, Abnormal rib morpholo... ORPHA:667
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Sotos Syndrome
Accelerated skeletal maturation, Flexion contracture, Hypothyroidism, Abnormal vertebral morpholo... ORPHA:821
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Abnormal vertebral morphology, Scoliosis ORPHA:261197
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Broad hallux, Hypospadias, Avascular necrosis of the capital femoral epiphysis, Cry... ORPHA:353281
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... OMIM:253200
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb... ORPHA:3455
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to gro... OMIM:129900
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Hypospadias, Aplasia/Hypoplasia of the sternum, Cryptorchidism, ... OMIM:219000
Atypical Werner Syndrome
Pes planus, Premature ovarian insufficiency, Rocker bottom foot, Micrognathia, Decreased fertilit... ORPHA:79474
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, L... ORPHA:96191
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Hypospadias, Down-sloping shoulders, Kyphoscoliosis, Abnormal p... OMIM:309800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Pectus excavatum, Prominent sternum, Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254528
Menke-Hennekam Syndrome 1
Overlapping toe, Broad hallux, Sandal gap, Cryptorchidism, Flexion contracture, Cutaneous syndact... OMIM:618332
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of the capital femoral epiphysi... ORPHA:581
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Patent ductus arteriosus OMIM:613834
Holoprosencephaly 9
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid... OMIM:610829
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Hypoplas... OMIM:202010
Pontocerebellar Hypoplasia Type 7
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent... ORPHA:284339
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v... ORPHA:50
Williams Syndrome
Osteopenia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Vertebral segmentation de... ORPHA:904
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Decreased response to growth hormone stimulation test, Sydney crease, ... ORPHA:506358
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
8Q24.3 Microdeletion Syndrome
Long toe, Pes planus, Ectopic posterior pituitary, Short femur, Congenital hip dislocation, Rocke... ORPHA:508488
Aicardi Syndrome
Block vertebrae, Missing ribs, Hemivertebrae, Rib fusion, Supernumerary ribs, Bifid ribs, Scolios... OMIM:304050
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, H... OMIM:252940
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Cryptorchidism... ORPHA:2273
Xylt1-Cdg
Broad ribs, Short clavicles ORPHA:370930
Peters Plus Syndrome
Sacral dimple, Toe syndactyly, Hypospadias, Rhizomelia, Micromelia, Short neck, Cryptorchidism, S... ORPHA:709
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Short neck, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absen... ORPHA:495875
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Joint laxity, Syndactyly, Hypospadias, Broad hallux, Deviation of the hallux, Avascular necrosis ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Joint laxity, Syndactyly, Hypospadias, Broad hallux, Deviation of the hallux, Avascular necrosis ... ORPHA:353277
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254519
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Osteoporosis, Adrenal insufficiency, Pathologic fracture OMIM:307030
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism ORPHA:2241
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Sacral dimple, Rib fusion ORPHA:544488
Cystic Fibrosis
Male infertility, Clubbing of fingers OMIM:219700
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Lumbar hemivertebrae, Thin ribs ORPHA:2463
Weill-Marchesani Syndrome 1
Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:277600
Iniencephaly
Rhizomelia, Rocker bottom foot, Absent vertebra, Talipes equinovarus, Mandibular aplasia ORPHA:63259
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Adrenocortical cytomegaly, Prominent metopic ridge, Accelerated... OMIM:130650
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Hip dislocation, Unilateral chest hypopl... OMIM:308205
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Rectoperineal fistula, Metopic synostosis OMIM:618748
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vert... ORPHA:263508
Branchiooculofacial Syndrome
Hypospadias, Single transverse palmar crease, Proximal placement of thumb, Supernumerary nipple, ... OMIM:113620
Penile Agenesis
Maternal diabetes, Cryptorchidism, Bilateral talipes equinovarus, Absent penis, Ambiguous genitalia ORPHA:49
Double Outlet Left Ventricle
Cryptorchidism, Patent ductus arteriosus ORPHA:3427
Nestor-Guillermo Progeria Syndrome
Rib osteolysis, Progressive clavicular acroosteolysis, Scoliosis, Thin ribs OMIM:614008
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Short neck, Flexion c... OMIM:601803
Okamoto Syndrome
Prominent metopic ridge, Talipes, Bifid uterus, Hip dysplasia, Polydactyly ORPHA:2729
Restrictive Dermopathy 1
Hypospadias, Rocker bottom foot, Micrognathia, Overtubulated long bones, Osteolytic defects of th... OMIM:275210
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Platyspondyly ORPHA:309282
Weill-Marchesani Syndrome 2
Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:608328
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Kyphoscoliosis, Thin ribs OMIM:225400
Johanson-Blizzard Syndrome
Joint laxity, Diabetes mellitus, Hypospadias, Single transverse palmar crease, Urethrovaginal fis... OMIM:243800
Cranioectodermal Dysplasia 2
Short neck, Pectus excavatum, Short ribs, Narrow chest, Horizontal ribs OMIM:613610
Zttk Syndrome
Kyphosis, Rib fusion, Hemivertebrae, Cervical ribs, Scoliosis OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Hyperlordosis OMIM:301066
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Broad ribs, Platyspondyly OMIM:619727
Coccidioidomycosis
Abnormal sperm morphology, Broad ribs, Abnormality of the vertebral column ORPHA:228123
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures OMIM:612301
Mandibuloacral Dysplasia Progeroid Syndrome
Pectus excavatum, Supernumerary ribs, Thin ribs OMIM:619127
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Stippled calcification of the shoulder, Abnormal calcification of the ca... ORPHA:51608
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Thin ribs, Increase... ORPHA:1662
Viss Syndrome
Long toe, Pes planus, Microretrognathia, Recurrent joint dislocation, Arachnodactyly, Rocker bott... OMIM:619472
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis ORPHA:217093
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Hypospadias, Cryptorchidism, Osteoarthritis, Cysto... ORPHA:286
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Prominent floating ribs ORPHA:2785
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Rib fusion, Hemivertebrae, Cervical ribs ORPHA:500150
Norrie Disease
Cryptorchidism, Erectile dysfunction, Uterine rupture ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hoxa11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxa11.

No publications found that use IMPC mice or data for Hoxa11.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hoxa11tm413580(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxa11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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