Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
retinoic acid receptor, alpha
Synonyms:
RAR alpha 1,  RARalpha1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Rara 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 Rara by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acute Promyelocytic Leukemia
Bone pain, Metrorrhagia ORPHA:520
Acute Promyelocytic Leukemia
OMIM:612376

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Abnormality of male internal genitalia, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Isochromosomy Yq
Varicocele, Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia, Gonada... ORPHA:98798
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Recurrent otitis media, Short 5th metacarpal, Sin... ORPHA:370010
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short stature, Short middle phalanx of fing... ORPHA:1436
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Congenital stapes ankylosis, Conductive hearing impairment, Broad hallux, Short d... OMIM:184460
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Asymmetric Short Stature Syndrome
Asymmetric short stature, Micrognathia, Hemihypotrophy of lower limb, Fused cervical vertebrae, L... OMIM:108450
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Kyphosis, Short neck, Low-set ears, Hyperlordosis, Micrognathia, Sh... ORPHA:2522
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Short stature, Short middle phalanx of finger, Fused cervical... OMIM:309620
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Recurrent otitis media, Joint laxity, Cone-shaped epiphysis, Co... OMIM:157800
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Cryptorchidism, Thoracic platyspondyly, Micrognath... OMIM:108720
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Patellar dislocation, Tibial... ORPHA:3320
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Li... OMIM:151200
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Tarsal synostosis,... ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sensorineural hearing impairment, Conductive hearing... OMIM:214300
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Microphallus, Decr... OMIM:614840
Gordon Syndrome
Finger syndactyly, Cryptorchidism, Clinodactyly of the 5th finger, Scoliosis, Short stature, Camp... ORPHA:376
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Ambiguous genitalia, Mic... OMIM:615542
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Scoliosis, Genu valgum, Scapula... OMIM:305620
Wildervanck Syndrome
Abnormality of the outer ear, Hearing impairment, Fused cervical vertebrae OMIM:314600
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Disproportionate short-trunk short stature, Dispropo... ORPHA:485
Multiple Pterygium Syndrome, Escobar Variant
Cryptorchidism, Micrognathia, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis... OMIM:265000
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Short neck, Flexion contracture, Low-set ears, Thoracolumbar sco... OMIM:616549
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Frontometaphyseal Dysplasia
Limitation of knee mobility, Micrognathia, Scoliosis, Metaphyseal widening, Short diaphyses, Shou... ORPHA:1826
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Ring Chromosome 21 Syndrome
Clinodactyly, Infertility, Amenorrhea, Azoospermia, Narrow palm, Fused thoracic vertebrae, Scolio... ORPHA:1445
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Lamb-Shaffer Syndrome
Thoracic kyphosis, Mild postnatal growth retardation, Micrognathia, Scoliosis, Fused cervical ver... ORPHA:530983
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Scoliosis, Short statur... ORPHA:3268
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Missing ribs, Abnormal rib morphology, Vertebral fusion, Abnormality of the odon... OMIM:613686
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic verte... ORPHA:2916
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Aarskog-Scott Syndrome
Single transverse palmar crease, Finger syndactyly, Short palm, Short neck, Cryptorchidism, Clino... ORPHA:915
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Conductive hear... OMIM:118100
Crossed Polysyndactyly
Abnormality of the outer ear, Hearing abnormality, Finger syndactyly, Aplasia/Hypoplasia of the t... ORPHA:2935
Gorlin Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Vertebral wedging, Scoliosis, Vertebral fusion, Ep... ORPHA:377
Familial Male-Limited Precocious Puberty
Accelerated skeletal maturation, Long penis, Oligospermia, Precocious puberty, Macroorchidism, Ma... ORPHA:3000
Kbg Syndrome
Thoracic kyphosis, Short neck, Cervical ribs, Cryptorchidism, Thick eyebrow, Persistent open ante... ORPHA:2332
Spondylocostal Dysostosis 5
Missing ribs, Short neck, Supernumerary ribs, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Short neck, Fused cervical vertebrae ORPHA:3456
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Scoliosis, Abnormal sperm head... ORPHA:320391
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Abnormality of the vertebral column, Polydactyly, Upper limb phocom... ORPHA:294975
Kbg Syndrome
Thoracic kyphosis, Cervical ribs, Cryptorchidism, Thick eyebrow, Long palpebral fissure, Vertebra... OMIM:148050
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Delayed puberty, Abnormal spermatogenesis, Conductive... ORPHA:90646
Mosaic Trisomy 20
Clinodactyly, Kyphosis, Intrauterine growth retardation, Cryptorchidism, Down-sloping shoulders, ... ORPHA:1724
Apert Syndrome
Cryptorchidism, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Vaginal atresia, Mand... OMIM:101200
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Ptosis, Knee flexion ... OMIM:178110
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Cryptorchidism, Abn... ORPHA:1263
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Intrauterine growth retardation, Conductive hearing impairment, Hypopla... OMIM:609053
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Postaxial foot polydactyly, Hypopla... OMIM:263540
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus, Abnormal rib morpho... ORPHA:2578
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Short stature, Kyphoscoliosis, Cutaneous finger syndactyly, Duplicatio... OMIM:600384
Monosomy 5P
Short neck, Finger syndactyly, Intrauterine growth retardation, Recurrent fractures, Low-set, pos... ORPHA:281
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Cryptorchidism, Micrognathia, Anisospondyly, Posteriorly rotated ears, ... OMIM:224410
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple, Patent ductus arteriosus OMIM:618845
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Short palm, Increased bone mineral density,... ORPHA:90650
Apert Syndrome
Toe syndactyly, Finger syndactyly, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Co... ORPHA:87
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism, 2-4 toe syndactyly, Syndactyly OMIM:241000
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... OMIM:185800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Small earlobe, Disproportionate short-trunk short... ORPHA:93315
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Generalized... ORPHA:508498
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Weaver Syndrome
Accelerated skeletal maturation, Finger syndactyly, Joint stiffness, Cryptorchidism, Sandal gap, ... ORPHA:3447
Congenital Arthrogryposis With Anterior Horn Cell Disease
Single transverse palmar crease, Short neck, Kyphosis, Low-set ears, Rocker bottom foot, Cryptorc... OMIM:611890
Bardet-Biedl Syndrome 5
Brachydactyly, Micropenis, External genital hypoplasia, Polydactyly, Hypogonadism, Syndactyly OMIM:615983
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, Intrauterine growth retardation, Low-set ears, C... OMIM:600325
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Multiple Epiphyseal Dysplasia Type 5
Knee pain, Genu varum, Multiple small vertebral fractures, Arthralgia of the hip, Genu valgum, Hi... ORPHA:93311
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility OMIM:615703
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Enlarged joints, Cutaneous syndactyly, Abnormal vertebral morphology, Short stature... ORPHA:166024
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Radioulnar s... ORPHA:71289
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral b... ORPHA:3429
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Frontometaphyseal Dysplasia 2
Low-set ears, Dislocated radial head, Short metacarpal, Cryptorchidism, Congenital hip dislocatio... OMIM:617137
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Aplasia of the middle phalanx of the hand, Abnormal... ORPHA:3168
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Cr... ORPHA:65759
Verheij Syndrome
Clinodactyly, Short neck, Short 5th finger, Growth delay, Scoliosis, Short stature, Vertebral fus... OMIM:615583
49,Xyyyy Syndrome
Abnormality of the testis size, Azoospermia, Short 5th finger, Generalized joint laxity, Abnormal... ORPHA:99330
Silver-Russell Syndrome 3
Low-set ears, Cryptorchidism, Short stature, Retrognathia, Finger clinodactyly, Ambiguous genital... OMIM:616489
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bodies, Joint... OMIM:608940
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level,... ORPHA:95699
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Recurre... ORPHA:3409
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Vertebral clefting, Single transverse palmar crease, 2-3 toe syndactyly, Short fem... OMIM:614701
Diaphanospondylodysostosis
Missing ribs, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... ORPHA:66637
Keratoconus Posticus Circumscriptus
Brachydactyly, Short neck, Clinodactyly of the 5th finger, Growth delay, Limited elbow extension ... OMIM:244600
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Cryptorchidism, Male pseudohermaphroditism, Ambiguous... ORPHA:752
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Short stature, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta,... OMIM:619227
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Cryptorchidism, Bifid distal phalanx of toe, Micrognathia, Scoliosis, Vertebral fus... OMIM:268310
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Congenital Radioulnar Synostosis
Wrist pain, Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital h... ORPHA:3269
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Single transverse palmar crease, Short neck, Low-set ears, Cryptorchidism, Sensori... OMIM:614541
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Short neck, Intrauterine growth retardatio... ORPHA:1780
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:312150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:606612
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Clinodactyly, Recurrent otitis media, Intrauterine growth retardation, Micrognathia, Joint hyperm... ORPHA:254531
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Block vertebrae, Short neck, Missing ribs, Short ribs, Supernumerary verte... OMIM:271520
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cleft vertebral arch, Single transverse palmar crease, Intrauterine growth retard... ORPHA:83617
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Low-set ears, Cryptorchidism, Conductive hearing impairment,... OMIM:130720
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:253290
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Three M Syndrome 1
Short neck, Intrauterine growth retardation, Increased vertebral height, Clinodactyly of the 5th ... OMIM:273750
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Larsen Syndrome
Brachydactyly, Craniosynostosis, Finger syndactyly, Abnormality of epiphysis morphology, Abnormal... ORPHA:503
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clinodactyly, Cone-shaped epiphysis, Oligospermia, Small hand, Mandibular prognathia, Brachydacty... OMIM:614813
Gapo Syndrome
Abnormality of pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Amenorrhea, ... ORPHA:2067
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Spondylol... OMIM:304120
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Arnold-Chiari Malformation Type I
Tinnitus, Cervical C2/C3 vertebral fusion, Adult onset sensorineural hearing impairment, Vertigo,... ORPHA:268882
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Aarskog-Scott Syndrome
Clinodactyly, Cryptorchidism, Elevated circulating luteinizing hormone level, Broad palm, Scolios... OMIM:305400
Bardet-Biedl Syndrome 6
External genital hypoplasia, Syndactyly, Hypospadias, Polydactyly OMIM:605231
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Cornelia De Lange Syndrome 5
Toe syndactyly, Short neck, Cryptorchidism, Clinodactyly of the 5th finger, Micropenis, Hearing i... OMIM:300882
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, H... ORPHA:313892
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Short neck, Intrauterine growth retardation, Osteopenia, Rhizomeli... OMIM:611209
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Ankylosis, Camptodactyly... OMIM:615170
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Hypopla... ORPHA:3109
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Sensorineural hearing impairment, Scoliosis, Proxim... ORPHA:1825
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Cryptorchidism, Micrognathia, Ulnar deviation of the hand or of fingers of... OMIM:114300
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosis, Distal symphalangism of hand... OMIM:185900
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short palm, Cryptorchidism, External genital hypoplasia, Short stature, Short toe, Retrognathia, ... OMIM:612947
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Joint stiffness, Cryptorchidi... ORPHA:1512
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Clinodactyly of the 5th finger, Disproportionate short-trunk ... OMIM:272460
Maternal Uniparental Disomy Of Chromosome X
Short neck, Flexion contracture, Rocker bottom foot, Azoospermia, Scoliosis, Short stature, Cubit... ORPHA:261519
Roifman Syndrome
Brachydactyly, Hypogonadotropic hypogonadism, Recurrent otitis media, Irregular capital femoral e... ORPHA:353298
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Bifid scrotum, Low-set ears, Shawl scrotum, Broad hallux, Hand polydactyly, Short ... OMIM:239710
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Cone-shaped epiphysis, Micrognathia, Short toe, Mandibular prognathia, Brachydact... ORPHA:439822
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Osteoporosis, Ovarian cyst, Adrenocorticotropic hormone deficien... ORPHA:91348
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Trismus, Cryptorchidism, Clinodactyly of the 5th finger, Broad palm, Shawl s... OMIM:227330
Bardet-Biedl Syndrome 4
Brachydactyly, Cryptorchidism, External genital hypoplasia, Polydactyly, Hypogonadism, Syndactyly OMIM:615982
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Short neck, Cubitus valgus ORPHA:2183
47,Xyy Syndrome
Varicocele, Low-set ears, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, ... ORPHA:8
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Kyphosis, Intrauterine growth retar... ORPHA:1005
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Cryptorchidism, Epiphy... OMIM:619135
Bresek Syndrome
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Growth delay, Scoliosis, Postaxial... ORPHA:85284
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Single transverse palmar crease, Short neck, Intrauterine grow... OMIM:616145
Osteogenesis Imperfecta, Type Iv
Wormian bones, Kyphosis, Biconcave flattened vertebrae, Recurrent fractures, Hearing impairment, ... OMIM:166220
Ritscher-Schinzel Syndrome 2
Clinodactyly, Cryptorchidism, Broad hallux, Growth delay, Short distal phalanx of finger, Scolios... OMIM:300963
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Filippi Syndrome
Single transverse palmar crease, Intrauterine growth retardation, Cutaneous syndactyly, Cryptorch... OMIM:272440
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Sclerotic foci within carpal bones, Abnormal pelvis bone ossific... ORPHA:166119
Moebius Syndrome
Brachydactyly, Clinodactyly, Hypogonadotropic hypogonadism, Abnormality of pelvic girdle bone mor... OMIM:157900
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Kyphosis, Joint hyperflexibility, Cryptorchidism, Ptosis, Scoliosis,... ORPHA:96169
Temple Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Scoliosis, Precocious puberty, Short stature, Sma... ORPHA:254516
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling OMIM:612852
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Finger syndactyly, Short neck, Underfolded helix, Low-set ears, Cryptorchidism,... ORPHA:178303
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Clinodactyly, Recurrent otitis media, Intrauterine growth retardation, Cryptorchidism, Micrognath... ORPHA:96184
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Low back pain, Vertebral... OMIM:203500
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Cupped ear, Low-set ears, Cryptorchidism, Micropenis, Supernumerary nippl... OMIM:263750
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Tibial Hemimelia
Radial club hand, Cryptorchidism, Mesomelic leg shortening, Short tibia, Increased laxity of ankl... ORPHA:93322
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Short neck, Triphalangeal thumb, Microtia, Arachnodactyly, Short distal phalan... ORPHA:2994
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Fibular hypoplasia, Micrognathia, Small hand, Decreased response to growth hormon... ORPHA:444077
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Short tibia, Pro... OMIM:268305
Saethre-Chotzen Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Prominent crus of helix, Scoliosis, Hallux valgus... ORPHA:794
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Aplasia/Hy... ORPHA:3232
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Pelvis-Shoulder Dysplasia
Micrognathia, Ambiguous genitalia, Hypoplastic pubic bone, Aplasia/Hypoplasia of the fibula, Prom... ORPHA:2839
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Low-set ears, Dysmenorrhea, Cryptorchidism, Clinodactyly of the ... ORPHA:397590
Seckel Syndrome 1
Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Proportionat... OMIM:210600
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Sandal gap, Atresia of the external auditory ca... ORPHA:2980
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Short statur... OMIM:613005
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Disproportiona... OMIM:223800
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Sen... ORPHA:3250
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Caudal Regression Syndrome
Missing ribs, Joint stiffness, Hypoplastic vertebral bodies, Cryptorchidism, Scoliosis, Ambiguous... ORPHA:3027
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:607155
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Craniosynostosis, Postaxial foot polydactyly, Preaxial foot poly... OMIM:175700
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Intrauterine growth retardation, Microtia, Mi... ORPHA:2145
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal morphology of... ORPHA:2141
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Toe syndactyly, Finger syndactyly, Low-set ears, Sensorineural hearing impairment, Supernumerary ... ORPHA:3224
46,Xy Sex Reversal 8
Cryptorchidism, Sex reversal, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Myhre Syndrome
Clinodactyly, Cryptorchidism, Radial deviation of finger, Cone-shaped epiphysis, Hypoplastic ilia... OMIM:139210
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Craniosynostosis, Finger syndactyly, S... ORPHA:1520
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Thoracic kyphosis, Low-set ears, Arachnodactyly, Overfolded helix, Large fleshy ear... OMIM:619092
Laurence-Moon Syndrome
Brachydactyly, Finger syndactyly, Cryptorchidism, Sensorineural hearing impairment, Hand polydact... ORPHA:2377
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Hypoplasia of the premaxilla, Fibular hypoplasia, Cryptorchidism, Sand... ORPHA:1106
48,Xxxy Syndrome
Infertility, Cryptorchidism, Clinodactyly of the 5th finger, Scoliosis, Mandibular prognathia, Hi... ORPHA:96263
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Micrognathia, Sacrococcygeal teratoma, Scoliosis, Abnormality of th... ORPHA:798
49,Xxxxy Syndrome
Infertility, Cryptorchidism, Clinodactyly of the 5th finger, Scoliosis, Mandibular prognathia, Hi... ORPHA:96264
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Abnormal hip bone morphology, Finger syndactyly, Intrauterine growth ... ORPHA:1323
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Clinodactyly, Acromicria, Intrauterine growth retardation, Micrognathia, Low-set, posteriorly rot... ORPHA:254525
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Abnormal morpholo... ORPHA:2311
Acrofacial Dysostosis, Catania Type
Brachydactyly, Finger syndactyly, Short palm, Intrauterine growth retardation, Cryptorchidism, Cl... ORPHA:1786
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Neonatal death, Platyspondy... OMIM:187601
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short st... ORPHA:2019
Roifman Syndrome
Brachydactyly, Recurrent otitis media, Single transverse palmar crease, Intrauterine growth retar... OMIM:616651
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Single transverse palmar crease, Finger syndactyly, Severe postnatal growth retardation, Cryptorc... ORPHA:435938
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Patent duc... OMIM:206900
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Finger syndactyly, Delayed eruption of teeth, Low-set ears, Short metacarpal, Sandal gap, Hearing... OMIM:264475
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal vertebral morphology, Scoliosis... ORPHA:64754
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Short neck, Cutaneous syndact... OMIM:236500
Acrofacial Dysostosis, Palagonia Type
Short neck, Finger syndactyly, Abnormal form of the vertebral bodies, Low-set ears, Short 4th met... ORPHA:1787
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Micrognathia, Scoliosis, Synostosis of carpal bones, Bowing of th... ORPHA:90652
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Male sexual dysfunction, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachydactyly, Short ... OMIM:611717
Silver-Russell Syndrome
Upper limb asymmetry, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Sandal gap, ... ORPHA:813
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Ovotestis, Chordee, Cryptorchidism, Micrognathia, Scoliosis, Male inferti... ORPHA:1772
Marden-Walker Syndrome
Short neck, Kyphosis, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Micropenis, ... OMIM:248700
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Cryptorchidism, Polydactyly, Scoliosis, Postnatal growth retardation, Vertebral... ORPHA:531151
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Hypomelanosis Of Ito
Clinodactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Syndactyly OMIM:300337
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Micropenis, Metaphyseal dysplasia,... OMIM:614732
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Kyphosis, Abnormality... ORPHA:94065
Silver-Russell Syndrome 1
Intrauterine growth retardation, Clinodactyly of the 5th finger, Micrognathia, Testicular seminom... OMIM:180860
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Multiple joint contractures, Low-set ears, Mesomelic leg shorten... OMIM:300244
Robinow Syndrome
Acromesomelia, Cryptorchidism, Micrognathia, External genital hypoplasia, Mesomelic arm shortenin... ORPHA:97360
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal labi... ORPHA:251510
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Scoliosis, Ulnar deviation of the hand or of fingers of the hand, Mandibular prog... OMIM:193700
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Finger syndactyly, Short neck, K... ORPHA:958
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Mohr Syndrome
Brachydactyly, Metaphyseal irregularity, Wormian bones, Partial duplication of the phalanges of t... OMIM:252100
Chromosome 8Q21.11 Deletion Syndrome
Short neck, Low-set ears, Sensorineural hearing impairment, Micrognathia, Protruding ear, Camptod... OMIM:614230
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
External ear malformation, Conductive hearing impairment, Abnormality of the stapes OMIM:124490
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Sacral dimple, Intrauterine growth retardation, Cryptorchidism, Antever... OMIM:610443
Roberts Syndrome
Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Mesomelic arm shortenin... ORPHA:3103
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Intrauterine growth retardation, Clinodactyly of the 5th finger, Contractures of the lar... ORPHA:96179
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Tapered fing... ORPHA:251014
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Scoliosis, Flexion contracture, Syndactyly OMIM:619091
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrhea, Azoospermia, Cryptorchidism, Micro... OMIM:614837
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Azoospermia, Abnormal rib morphology, Bicornuate uterus, Hyp... OMIM:601076
Pfeiffer Syndrome
Brachydactyly, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Fin... ORPHA:710
Ring Chromosome 12 Syndrome
Clinodactyly, Glandular hypospadias, Low-set ears, Cryptorchidism, Microtia, Growth delay, Uterin... ORPHA:1439
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Cutaneous syndactyly, Cryptorchidism, Overlapping fingers, Low-set ears, Hypospadias, L... OMIM:618316
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Microcephalic Primordial Dwarfism, Dauber Type
Lumbar scoliosis, Primary amenorrhea, Severe postnatal growth retardation, Clinodactyly of the 5t... ORPHA:319675
Desbuquois Dysplasia 2
Genu varum, Radial head subluxation, Severe short stature, Metaphyseal widening, Broad thumb, Hip... OMIM:615777
Van Maldergem Syndrome 2
Clinodactyly, Tracheomalacia, Cryptorchidism, Atresia of the external auditory canal, Micrognathi... OMIM:615546
Basal Cell Nevus Syndrome
Orbital cyst, Irregular ossification of hand bones, Supernumerary ribs, Short ribs, Vertebral wed... OMIM:109400
Cri-Du-Chat Syndrome
Single transverse palmar crease, Short neck, Low-set ears, Short metacarpal, Cryptorchidism, Hypo... OMIM:123450
Poland Syndrome
Unilateral brachydactyly, Hypoplasia of deltoid muscle, Unilateral oligodactyly, Hemivertebrae, S... OMIM:173800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Pallister-Hall Syndrome
Radial head subluxation, Cryptorchidism, Panhypopituitarism, Atresia of the external auditory can... OMIM:146510
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Short neck, Low-set ears, Broad hallux, Hypoplasia of the maxilla, Preaxial han... OMIM:101120
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Prader-Willi Syndrome
Clinodactyly, Infertility, Acromicria, Primary amenorrhea, Cryptorchidism, Osteoporosis, External... OMIM:176270
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Low-set ears, Micrognathia, Decreased response to growth hormone... OMIM:220210
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Hypoplastic labia majora, Small scrotum, Finger syndactyly, Popliteal pterygium, ... ORPHA:1300
19P13.12 Microdeletion Syndrome
Craniosynostosis, Toe clinodactyly, Finger syndactyly, Short palm, Short neck, Cryptorchidism, Sa... ORPHA:254346
Greig Cephalopolysyndactyly Syndrome
Accelerated skeletal maturation, Toe syndactyly, Craniosynostosis, Finger syndactyly, Postaxial f... ORPHA:380
Microphthalmia With Limb Anomalies
Toe syndactyly, Single transverse palmar crease, Hand oligodactyly, Postaxial foot polydactyly, F... OMIM:206920
Meier-Gorlin Syndrome 1
Genu varum, Absent sternal ossification, Cryptorchidism, Clinodactyly of the 5th finger, Atresia ... OMIM:224690
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Severe short sta... OMIM:187600
Chromosome 10Q26 Deletion Syndrome
Clinodactyly, Toe syndactyly, Small scrotum, Short neck, Craniosynostosis, Low-set ears, Cryptorc... OMIM:609625
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Infertility, Primary amenorrhea, Cryptorchidism, Osteoporosis, Impoten... ORPHA:2232
Rubinstein-Taybi Syndrome 2
Carious teeth, Broad hallux, Micrognathia, Retrognathia, Broad thumb, Posterior helix pit, Dental... OMIM:613684
Warburg Micro Syndrome 3
Ankle clonus, Small scrotum, Flexion contracture, Micropenis, Clinodactyly of the 5th finger, Hyp... OMIM:614222
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... ORPHA:79345
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Decreased skull ossification, Testi... OMIM:601163
Summitt Syndrome
Craniosynostosis, Syndactyly OMIM:272350
Autosomal Recessive Kenny-Caffey Syndrome
Intrauterine growth retardation, Carious teeth, Delayed skeletal maturation, Growth delay, Decrea... ORPHA:93324
3Mc Syndrome
Abnormal pinna morphology, Craniosynostosis, Low-set ears, Hearing impairment, Caudal appendage, ... ORPHA:293843
Craniosynostosis And Dental Anomalies
Clinodactyly, Lambdoidal craniosynostosis, Craniosynostosis, 2-3 toe syndactyly, Coronal craniosy... OMIM:614188
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Single transverse palmar crease, Short neck, Sandal gap, Micromelia, Short stature... OMIM:614800
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Delayed skeletal maturation, Hypogonadism, Decrease... OMIM:229070
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Scoliosis, Vertebral fusion, Short toe, Mandibula... ORPHA:373
Bardet-Biedl Syndrome
Finger syndactyly, Short neck, Cryptorchidism, Hearing impairment, Hypoplasia of penis, Low-set, ... ORPHA:110
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... ORPHA:93323
Charcot-Marie-Tooth Disease, Type 4B3
Scoliosis, Syndactyly OMIM:615284
Cranioectodermal Dysplasia
Brachydactyly, Craniosynostosis, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, O... ORPHA:1515
Autosomal Recessive Multiple Pterygium Syndrome
Pterygium, Cryptorchidism, Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Popliteal... ORPHA:2990
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Congenital Heart Defects And Ectodermal Dysplasia
Scoliosis, Syndactyly, Broad thumb OMIM:617364
Sanjad-Sakati Syndrome
Cryptorchidism, Patchy osteosclerosis, Hypoplasia of penis, Severe intrauterine growth retardatio... ORPHA:2323
Wolf-Hirschhorn Syndrome
Cryptorchidism, Short thumb, Micrognathia, Scoliosis, Vertebral fusion, Hip dysplasia, Hip disloc... OMIM:194190
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Osteoporosis, Generalized joint laxity, Impotence, Male hypog... ORPHA:432
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Short stature, Finger syndactyly, Micrognathia ORPHA:1514
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Oligospermia, Precocious puberty, Del... OMIM:300200
Microphthalmia, Lenz Type
Finger syndactyly, Kyphosis, Delayed eruption of teeth, Cryptorchidism, Clinodactyly of the 5th f... ORPHA:568
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Finger syndactyly, Kyphosis, Prominent metopic ridge, Advanced eruption of teeth, ... ORPHA:2215
Oliver Syndrome
Dental malocclusion, Absent earlobe, Postaxial foot polydactyly, Intrauterine growth retardation,... ORPHA:2920
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Osteogenesis Imperfecta, Type I
Wormian bones, Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased suscepti... OMIM:166200
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
3C Syndrome
Brachydactyly, Abnormal hip bone morphology, Finger syndactyly, Short neck, Kyphosis, Low-set ear... ORPHA:7
Lenz-Majewski Hyperostotic Dwarfism
Chordee, Intrauterine growth retardation, Cryptorchidism, Sensorineural hearing impairment, Diaph... OMIM:151050
Greenberg Dysplasia
Hypoplastic vertebral bodies, Multiple prenatal fractures, Broad palm, Decreased skull ossificati... OMIM:215140
Vacterl/Vater Association
Abnormal sacrum morphology, Finger syndactyly, Intrauterine growth retardation, Abnormal morpholo... ORPHA:887
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
3Mc Syndrome 2
Abnormality of the vertebral column, Craniosynostosis, Cryptorchidism, Hearing impairment, Caudal... OMIM:265050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Phocomelia, Kyphosis, Joint stiffness, Triphalangeal thumb, Down... ORPHA:392
Fatco Syndrome
Finger syndactyly, Abnormality of fibula morphology, Short stature, Absent hand, Abnormality of t... ORPHA:2492
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Cohen Syndrome
Abnormal hip bone morphology, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Tapered... ORPHA:193
Summitt Syndrome
Brachydactyly, Craniosynostosis, Finger syndactyly, Short palm, Short 4th metacarpal, Clinodactyl... ORPHA:3210
Trisomy 20P
Abnormal hip bone morphology, Cryptorchidism, Micrognathia, Scoliosis, Protruding ear, Brachydact... ORPHA:261318
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Penile hypospadias, Slender long bone, Abnormal form of the vertebral bodies, Generalized bone de... ORPHA:73230
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Cryptorchidism, Severe short stature, External genital hypoplasia, Sco... ORPHA:2658
Camptobrachydactyly
Brachydactyly, Toe syndactyly, Finger syndactyly, Septate vagina, Aplasia/Hypoplasia of the thumb... ORPHA:1319
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Camptodactyly, Split hand, Syndactyly, Joint contracture of the hand OMIM:225280
Opitz-Kaveggia Syndrome
Clinodactyly, Microtia, first degree, Joint contracture of the hand, Cryptorchidism, Micrognathia... OMIM:305450
Bohring-Opitz Syndrome
Broad palm, Tapered finger, Hyperechogenic pancreas, Micrognathia, Short toe, Retrognathia, Flexi... OMIM:605039
Endocrine-Cerebroosteodysplasia
Brachydactyly, Small scrotum, Low-set ears, Cryptorchidism, Sandal gap, Preaxial polydactyly, Mic... OMIM:612651
Myotubular Myopathy With Abnormal Genital Development
Unilateral cryptorchidism, Penile hypospadias, Glandular hypospadias, Micropenis, Joint hypermobi... OMIM:300219
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Short neck, Low-set ears, Cryptorchidism, Arthrogryposis-like hand anomaly, Short s... ORPHA:369891
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Finger syndactyly, Intrauterine growth retardation, Cryptorchid... ORPHA:217346
Hamamy Syndrome
Abnormality of the outer ear, Clinodactyly, Short 2nd finger, Craniosynostosis, Osteopenia, Long ... OMIM:611174
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Radioulnar synostosis, Bilatera... OMIM:605282
Duane Retraction Syndrome
Brachydactyly, Short neck, Abnormal form of the vertebral bodies, Absent radius, Aplasia/Hypoplas... ORPHA:233
Bloom Syndrome
Decreased fertility in females, Intrauterine growth retardation, Cryptorchidism, Clinodactyly of ... OMIM:210900
Czeizel-Losonci Syndrome
Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, Low-set, posteriorly rota... ORPHA:2437
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Anterior beaking of lumbar vertebrae, Proximal tapering of metacarpals, S... OMIM:253220
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Clinodactyly, Coxa valga, Low-set ears, Cryptorchidism, Micropenis, Shawl scrotum, Tapered finger... OMIM:301040
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Brachydactyly, Clinodactyly, Abnormality of the outer ear, Intrauterine growth retardation, Delay... ORPHA:96182
Filippi Syndrome
Finger syndactyly, Intrauterine growth retardation, Cryptorchidism, Clinodactyly of the 5th finge... ORPHA:3255
Cole-Carpenter Syndrome 2
Narrow iliac wing, Lambdoidal craniosynostosis, Wormian bones, Kyphosis, Osteopenia, Coronal cran... OMIM:616294
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Finger syndactyly, Short palm, Intrauterine growth retardation, Low-set ears, Cry... ORPHA:73246
Aromatase Deficiency
Primary amenorrhea, Osteopenia, Cryptorchidism, Osteoporosis, Hypergonadotropic hypogonadism, Amb... ORPHA:91
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Conductive hearing impairment, Abnormal calcification of the... ORPHA:51608
Dubowitz Syndrome
Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Small hand, ... ORPHA:235
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Abnormality of pelvic girdle bone morphology, Finger syndactyly, Persistent cloac... ORPHA:1112
Acrocardiofacial Syndrome
Toe syndactyly, Foot polydactyly, Finger syndactyly, Intrauterine growth retardation, Low-set ear... ORPHA:2008
Robinow Syndrome, Autosomal Dominant 3
Brachydactyly, Clinodactyly, Dental malocclusion, Short neck, Kyphosis, Sacral dimple, Low-set ea... OMIM:616894
Bartsocas-Papas Syndrome
Absent thumb, Toe syndactyly, Finger syndactyly, Popliteal pterygium, Aplasia/Hypoplasia of the d... ORPHA:1234
Aicardi Syndrome
Block vertebrae, Missing ribs, Supernumerary ribs, Sparse lateral eyebrow, Bifid ribs, Scoliosis,... ORPHA:50
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Low-set ears, Cryptorchidism, Micropenis, Patchy osteosclerosis, Severe intrauterine ... OMIM:241410
Xq21 Microdeletion Syndrome
Abnormal cochlea morphology, Conductive hearing impairment, Sensorineural hearing impairment, Ant... ORPHA:1435
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Small scrotum, Finger syndactyly, Palmoplantar hyperkeratosis, Carious teeth, Hyp... ORPHA:3253
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Short stature, Hearing impairment, Syndactyly OMIM:610023
Orofaciodigital Syndrome Type 14
Short neck, Postaxial foot polydactyly, Supernumerary tooth, Duplication of phalanx of hallux, Br... ORPHA:434179
Sweeney-Cox Syndrome
Cupped ear, Prominent metopic ridge, Low-set ears, Cutaneous syndactyly, Microtia, Micrognathia, ... OMIM:617746
Triploidy
Finger syndactyly, Short neck, Intrauterine growth retardation, Cryptorchidism, Hypoplasia of pen... ORPHA:3376
X Small Rings
Toe syndactyly, Primary amenorrhea, 2-3 toe syndactyly, Short neck, Cutaneous syndactyly, Upper l... ORPHA:96201
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Avascular necrosis, Oligospermia, Hypogonadism ORPHA:91351
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Rubinstein-Taybi Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Finger syndactyly, Low-set ears, Cry... ORPHA:783
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Abnormal vertebral morphology ORPHA:261272
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Pineal cyst, Short neck, Upper limb undergrowth, Microtia, Abnormality of... ORPHA:529962
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Osteoporosis, Secondary ameno... ORPHA:79239
Aicardi Syndrome
Block vertebrae, Missing ribs, Supernumerary ribs, Sparse lateral eyebrow, Bifid ribs, Scoliosis,... OMIM:304050
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifid... ORPHA:2475
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Brachydactyly, Clinodactyly, Short neck, Short palm, Tracheomalacia, Cryptorchidism, Micrognathia... OMIM:217980
Lead Poisoning
Abnormal sperm morphology, Infertility, Decreased female libido, Miscarriage, Oligospermia, Decre... ORPHA:330015
Acrocallosal Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Tapered finger, Brachydactyly, Rectovaginal fistu... OMIM:200990
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Cryptorchidism, Clinodactyly of the 5th finger, Severe short stature, ... ORPHA:3107
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Arthrogryposis multiplex congenita, Micrognathia OMIM:253310
Multiple Synostoses Syndrome 4
Brachydactyly, Otosclerosis, Overlapping toe, Tarsal synostosis OMIM:617898
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Microgn... ORPHA:1507
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Large joint dislocations, Osteoporosis, M... ORPHA:536467
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Single transverse palmar crease, Prominent metopic ridge, Advanced eruptio... OMIM:619148
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Cupped ear, Conductive hearing impairment, Supernumera... ORPHA:246
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Irregular menstruation, Precocious pub... ORPHA:90793
Trichorhinophalangeal Syndrome, Type Ii
Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Joint hype... OMIM:150230
Orofaciodigital Syndrome Xiv
Low-set ears, Postaxial polydactyly, Cryptorchidism, Micropenis, Preaxial polydactyly, Supernumer... OMIM:615948
Fg Syndrome Type 1
Broad toe, Abnormal thumb morphology, Small pituitary gland, Single transverse palmar crease, Fin... ORPHA:93932
Poland Syndrome
Abnormality of the outer ear, Abnormality of the ulna, Finger symphalangism, Unilateral brachydac... ORPHA:2911
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Diphallia
Absent thumb, Ectopic scrotum, Butterfly vertebrae, Bifid penis, Cryptorchidism, Abnormal spermat... ORPHA:227
Bartsocas-Papas Syndrome 1
Absent palmar crease, Pterygium, Short thumb, Micrognathia, Hypoplastic iliac wing, Bilateral cry... OMIM:263650
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Decreased palmar creases, Osteopenia, Elbow flexion contracture, Intrauterine growth retardation,... OMIM:612394
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Camptobrachydactyly
Brachydactyly, Septate vagina, Hand polydactyly, Short toe, Congenital finger flexion contracture... OMIM:114150
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Neonatal death, Mesomelia, Syndactyly OMIM:228940
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Syndactyly OMIM:300801
Tarp Syndrome
Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, Finger syndactyly, ... ORPHA:2886
Tetrasomy 9P
Amelogenesis imperfecta, Infertility, Cryptorchidism, Clinodactyly of the 5th finger, Micrognathi... ORPHA:3310
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Pfeiffer Syndrome
Finger syndactyly, Shortening of all middle phalanges of the fingers, Coronal craniosynostosis, B... OMIM:101600
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Cantú Syndrome
Accelerated skeletal maturation, Coxa valga, Finger syndactyly, Short neck, Ovoid vertebral bodie... ORPHA:1517
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Bowing of the long bones, Brachydactyly, Short long bone, Hypoplastic scapulae, Hypospadias, Poly... OMIM:614091
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Finger syndactyly, Short palm, Low-set ears, Aplasia/Hypopl... ORPHA:93258
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Clinodactyly, Finger syndactyly, Single transverse palmar crease, 2-3 toe syndact... ORPHA:464738
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Short stature, Shor... OMIM:615503
3Mc Syndrome 1
Lambdoidal craniosynostosis, Sacral dimple, Coronal craniosynostosis, Clinodactyly of the 5th fin... OMIM:257920
Peters-Plus Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Broad palm, Micrognathia, Scoliosis, Short toe, P... OMIM:261540
Bardet-Biedl Syndrome 9
Brachydactyly, Irregular menstruation, Postaxial foot polydactyly, Polydactyly, Postaxial hand po... OMIM:615986
Aarskog Syndrome, Autosomal Dominant
Brachydactyly, Clinodactyly, Proximal finger joint hyperextensibility, Single transverse palmar c... OMIM:100050
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
Limb-Mammary Syndrome
Syndactyly, Hypoplastic nipples, Hallux valgus, Camptodactyly, Split hand, Split foot, Joint cont... OMIM:603543
Methylcobalamin Deficiency Type Cble
Clinodactyly, Intrauterine growth retardation, Osteoporosis, Scoliosis, Postnatal growth retardat... ORPHA:2169
Bloom Syndrome
Intrauterine growth retardation, Severe postnatal growth retardation, Azoospermia, Growth delay, ... ORPHA:125
8Q21.11 Microdeletion Syndrome
Absent palmar crease, Finger syndactyly, Short neck, Low-set ears, Cryptorchidism, Hypoplasia of ... ORPHA:284160
2Q37 Microdeletion Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Short palm, Short neck, Tracheomalacia, Short m... ORPHA:1001
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Growth delay, Microtia, Camptodactyly, Hearing impairment, Syndactyly OMIM:616006
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Palmoplantar keratoderma, Macrotia, Syndactyly OMIM:613576
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Low-set ears, Hypoplasia of the radius, Micromelia, Postaxial polydactyly, Ambiguo... OMIM:617895
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Preaxial polydactyly, Polydactyly, Talipes equinovarus, Syndactyly OMIM:603671
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Cryptorchidism, Metaphyseal spurs, Micrognathia, Ex... ORPHA:96334
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Sacral dimple, Low-set ears, Abnormal penis morphology, Shawl scrotum, Preaxia... ORPHA:2211