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Gene: Bmpr1b MGI:107191

Gene Summary

Name:

bone morphogenetic protein receptor, type 1B

Synonyms:

BMPR-IB, Alk6, CFK-43a, Acvrlk6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
small testis	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	1.21×10^-05
decreased grip strength	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	1.24×10^-05
irregularly shaped pupil	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	3.19×10^-06
abnormal optic disk morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	6.86×10^-17
increased freezing behavior	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	2.97×10^-14
abnormal seminal vesicle morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating phosphate level	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	2.11×10^-06
female infertility	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
small seminal vesicle	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal autopod morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	2.92×10^-05
small liver	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal bone structure	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	4.15×10^-07

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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 Bmpr1b 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.

Human diseases associated with Bmpr1b (8 diseases)
Human diseases predicted to be associated with Bmpr1b (1622 diseases)

The table below shows human diseases associated to Bmpr1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Brachydactyly, Type A1, D	Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Sh...	OMIM:616849
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T...	OMIM:609441
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388

The table below shows human diseases predicted to be associated to Bmpr1b by phenotypic similarity.

Disease	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	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact...	OMIM:112700
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
Cleidorhizomelic Syndrome	Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation...	ORPHA:1453
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe...	OMIM:272150
Thiemann Disease, Familial Form	Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis morphology	ORPHA:3314
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Brachydactyly, Type A1, D	Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Sh...	OMIM:616849
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Brachydactyly, Type A4	Short middle phalanx of the 5th finger, Aplasia of the middle phalanges of the toes, Short middle...	OMIM:112800
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Satoyoshi Syndrome	Hypoplasia of the uterus, Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of the han...	OMIM:600705
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Ab...	ORPHA:93351
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Chorioretinal coloboma, Camptodactyly of finger, Typ...	ORPHA:1471
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Limited elbow extens...	OMIM:271650
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Paternal Uniparental Disomy Of Chromosome X	Decreased testicular size, Cubitus valgus, Micropenis, Infertility, Short metacarpal	ORPHA:261524
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly	OMIM:233270
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ...	OMIM:211369
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore...	OMIM:620019
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Cryptorchidism, Short foot, Short metatarsal, Sh...	OMIM:180870
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Congenital Vertical Talus	Abnormality of the foot musculature, Equinus calcaneus, Pes valgus, Pes planus, Lower extremity j...	ORPHA:178382
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly	ORPHA:1078
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Short 5th metacarpal, Short 4th metacarpal, ...	ORPHA:79445
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Sh...	ORPHA:3237
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged interphalangeal joi...	OMIM:615222
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T...	OMIM:609441
Bardet-Biedl Syndrome 5	Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly	OMIM:615983
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot	OMIM:190680
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachydactyly, Short meta...	ORPHA:1278
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E...	ORPHA:968
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Acrodysostosis	Abnormal female external genitalia morphology, Cryptorchidism, Bowing of the long bones, Abnormal...	ORPHA:950
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Elbow flexion contract...	OMIM:108120
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly	OMIM:140450
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Tetrasomy X	Premature ovarian insufficiency, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyl...	ORPHA:9
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
Digitotalar Dysmorphism	Ulnar deviation of finger, Rocker bottom foot, Camptodactyly of finger	OMIM:126050
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Short thumb, Interphalangeal joint contracture of finger, Enlarged ...	OMIM:151200
Seckel Syndrome 7	Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia...	OMIM:614851
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Coloboma Of Macula With Type B Brachydactyly	Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen...	OMIM:120400
Bowen-Conradi Syndrome	Micrognathia, Clinodactyly of the 5th finger, Rocker bottom foot, Abnormal joint morphology	OMIM:211180
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Cryptorchidism, Brachydactyly, Short metatarsal, Advanced ossification of ...	OMIM:614613
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ...	OMIM:618435
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Limited...	OMIM:614078
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of ...	ORPHA:566943
Spondylometaphyseal Dysplasia, Type A4	Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic...	OMIM:609052
Exostoses, Multiple, Type Ii	Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses...	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Pelvic bone exostoses...	OMIM:133700
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Small epiphyses, Abno...	OMIM:600969
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe...	OMIM:127300
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph...	OMIM:617102
Brachydactyly, Type E2	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Short long bone, Short foot, Short phal...	OMIM:102370
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Short thumb, Cryptorchidism	ORPHA:2489
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Pacman Dysplasia	Bowing of the long bones, Epiphyseal stippling	OMIM:167220
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger, Pat...	OMIM:604381
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Short thumb, Chorioretinal coloboma	OMIM:274205
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Hypospadias, S...	ORPHA:2438
Feingold Syndrome Type 2	Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb	ORPHA:391646
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3...	ORPHA:1540
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus, Arthritis	OMIM:192950
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of the han...	OMIM:601680
Bowen-Conradi Syndrome	Camptodactyly of finger, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Rocker bot...	ORPHA:1270
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of...	ORPHA:83468
2q37 monosomy	Brachydactyly	DECIPHER:44
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly, Rh...	OMIM:619248
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Short distal phalanx of finger, Wormian bones, Brachydactyly	ORPHA:2787
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Retinal thinning, Genu valgum, Asteroid hyalosis, Brachydactyly, Short phal...	OMIM:132450
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Distal foot symphalangism, Absent dorsal skin creas...	OMIM:185700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Short finger, Avascular necrosis of th...	OMIM:190351
Brachydactyly, Type E1	Type E brachydactyly, Short clavicles, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:113300
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb	ORPHA:435804
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of the knee, Tibial...	ORPHA:457395
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Pseudopseudohypoparathyroidism	Short metatarsal, Short metacarpal, Brachydactyly, Pseudohypoparathyroidism	OMIM:612463
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Metacarpophalangeal sy...	OMIM:186400
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplas...	ORPHA:163966
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Abnormal femur morp...	ORPHA:969
Marinesco-Sjogren Syndrome	Cubitus valgus, Coxa valga, Pes planus, Short metatarsal, Short metacarpal, Hypergonadotropic hyp...	OMIM:248800
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly	OMIM:614257
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydactyly, Brachydactyly, Syndactyly	OMIM:615982
Pde4D Haploinsufficiency Syndrome	Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f...	ORPHA:439822
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Pseudohypoparathyroidism Type 1B	Cataract, Pituitary resistance to thyroid hormone, Depression, Elevated circulating parathyroid h...	ORPHA:94089
Bardet-Biedl Syndrome 18	Brachydactyly, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Pseudohypoparathyroidism, Type Ia	Cataract, Elevated circulating parathyroid hormone level, Short toe, Hyperphosphatemia, Short fin...	OMIM:103580
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes, Talipes...	OMIM:108720
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Pes cavus, Cryptorchidism, Pes planus, Short foot, Tapered finger	OMIM:309585
Hypoparathyroidism, Familial Isolated, 1	Cataract, Hyperphosphatemia, Hypocalcemia, Irritability, Hypoparathyroidism, Hypocalcemic seizure...	OMIM:146200
Winchester Syndrome	Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy	OMIM:277950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Cooks Syndrome	Triphalangeal thumb, Broad thumb, Brachydactyly, Split hand	ORPHA:1487
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Juberg-Hayward Syndrome	Decreased response to growth hormone stimulation test, Limited elbow extension, Abnormal toe morp...	OMIM:216100
Pseudohypoparathyroidism, Type Ic	Cataract, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulatin...	OMIM:612462
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Short first metatarsal, Prominent interdigi...	OMIM:601957
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p...	ORPHA:85438
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the uterus, Abnormal joint morphology, Abnormality ...	ORPHA:3130
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Wide anterior fontanel, Hypop...	OMIM:618150
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	OMIM:612916
Larsen-Like Syndrome	Joint dislocation, Radial deviation of the 4th finger, Talipes equinovarus, Bipartite calcaneus, ...	OMIM:608545
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Lower limb undergrowth, Brachydactyly, Premature pubarche, Secondary amenorrhea, Bowing of the legs	OMIM:612847
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Metacarpal synostosis	ORPHA:35099
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Mesomelia	ORPHA:1277
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dislocation, Short distal phalanx ...	OMIM:620662
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased response to growth horm...	ORPHA:2980
Acromesomelic Dysplasia 4	Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t...	OMIM:619636
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly	OMIM:241000
49,Xyyyy Syndrome	Short 5th finger, Male hypogonadism, Abnormality of the testis size, Lower limb asymmetry, Finger...	ORPHA:99330
Neuropathy, Congenital, With Arthrogryposis Multiplex	Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs	OMIM:162370
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Short 5th metacarpal, Short digit, Clinodactyly of the 5th finger, Pate...	ORPHA:228190
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Emery-Nelson Syndrome	Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac...	ORPHA:1927
Brachydactylous Dwarfism, Mseleni Type	Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of the elbow, Sho...	ORPHA:2619
Autoimmune Hypoparathyroidism	Cataract, Depression, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypo...	ORPHA:36913
Silver-Russell Syndrome	Precocious puberty, Abnormal male external genitalia morphology, Lower limb asymmetry, Sandal gap...	ORPHA:813
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Micrognathia, Large hands, Tapered finger	OMIM:102150
Odontochondrodysplasia 1	Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Small epiphyses...	OMIM:184260
Eng-Strom Syndrome	Brachydactyly, Camptodactyly of finger	ORPHA:1937
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism	ORPHA:3303
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Bowing ...	ORPHA:429
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Long hallux, Cryptorchidism, Decreased growth hormone responses to growth horm...	OMIM:101800
Arthrogryposis, Distal, Type 1B	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Camptodactyly, Rocker...	OMIM:614335
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Cryptorchidism, Brachydactyly, Micropenis, Short phalanx of finger, Bro...	OMIM:614684
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Septate va...	ORPHA:1319
20Q11.2 Microdeletion Syndrome	Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly	ORPHA:444051
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Cubitus valgus, Azoospermia, Hypergonadotropic hypogonadism	ORPHA:2183
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Hypo...	OMIM:614813
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Elbow flexion contracture, Micrognathia, Limited elbow movement, Tali...	OMIM:615065
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification of carpal bone...	OMIM:617974
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Cryptorchidism,...	OMIM:619135
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortening of all metaca...	OMIM:601356
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly,...	OMIM:615994
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Chordee,...	OMIM:166250
Weyers Acrofacial Dysostosis	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi...	OMIM:193530
Arthrogryposis, Distal, Type 1C	Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Cryptorchidism,...	OMIM:619110
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi...	OMIM:102510
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Micrognathia, Limi...	ORPHA:1826
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn...	OMIM:185800
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Micrognathia, Aplasia/hypoplasia involving bones of the upper limbs...	ORPHA:40366
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Accessory carpal bones, Knee dislocation, Tali...	OMIM:150250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla...	ORPHA:2370
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Hip contracture, Knee flexion contract...	OMIM:616266
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Cone-shaped epiphysis, Camptodactyly of finger, Shortening of all...	ORPHA:77258
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Cataract, Broad distal phalanx of th...	ORPHA:79444
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachydactyly, Postaxi...	OMIM:617405
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi...	OMIM:185900
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Acrodysplasia Scoliosis	Spina bifida occulta, Brachydactyly	ORPHA:2956
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ...	OMIM:617927
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Decreased testicular size, Cryptorchidism, Broad foot, Polycystic ovaries, Brachydacty...	ORPHA:3085
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Metaphyseal dysp...	OMIM:156510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyly of finger, Th...	OMIM:612350
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Abnormal joint morphology, Flared femora...	ORPHA:1427
Sillence Syndrome	Chess-pawn distal phalanges, Broad thumb, Short finger, Short middle phalanx of finger, Abnormal ...	ORPHA:3168
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Micro...	OMIM:613684
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, External genital hypop...	ORPHA:65759
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Cryptorchidism, Talipes equinovarus, Brachydactyly, Micropenis, Hypospadias, Short ...	OMIM:612626
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot	OMIM:300577
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finger, Genu valgum,...	OMIM:618853
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Bilateral triphalangeal thumbs, Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangea...	OMIM:124480
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Pes planus, Calcaneovalgus deformity	OMIM:225320
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Cohen Syndrome	Decreased response to growth hormone stimulation test, Genu valgum, Micrognathia, Single transver...	OMIM:216550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy, Infertility	OMIM:300719
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Primary amenorrhea, Limb undergrowth, Bilateral breast hypoplasia, Hip dyspla...	ORPHA:319675
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Decreased testicular size, Hypocalcemic tetany, Abnormal circulating follicle-...	ORPHA:93325
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Slender finger, Multiple joint dislocation...	ORPHA:93360
Xq27.3Q28 Duplication Syndrome	Small hand, Hypogonadism, Decreased testicular size, Cryptorchidism, Short foot	ORPHA:261483
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened...	OMIM:127000
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Short fourth metatarsal, Short phalanx of finger, Short metacarpal	OMIM:600430
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit...	ORPHA:2141
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short distal phalanx of finger, Joint dislocation, Short toe, Camptodactyly of finger, Short 4th ...	ORPHA:3201
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Elevated circulating parathyroid ...	OMIM:618618
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Small hand, Broad thumb, Broad hallux, Decreased testicular size, Abnormal hip bo...	ORPHA:251028
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Rhizo-meso-a...	OMIM:611717
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Cataract, Broad distal phalanx of th...	ORPHA:79443
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Clinodactyly, Abnormal fema...	ORPHA:95699
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:603233
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Astigmatism, Cryptorchidism, Hypocalcemia, ...	ORPHA:2323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Decreased response to growth hormone stimul...	OMIM:241410
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormality of tibial epiphyses, Pedal edema, Arthralgia of the hip, Metaphyseal spurs, Abnormal ...	ORPHA:166011
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum, Pes planu...	OMIM:614134
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Patellar hypoplasia, Cryptorchidism, Pseudohypoparathyroidism, Brachydactyly, Short fourth metata...	ORPHA:464288
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Knee dislocation, Monkey wrench femoral neck...	OMIM:615777
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped met...	OMIM:175700
Zechi-Ceide Syndrome	Long foot, Short distal phalanx of finger, Short metatarsal, Sandal gap	ORPHA:217017
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Hypogonadism, Decreased testicular size, Cryptorchidism, Arachnoda...	OMIM:612513
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact...	ORPHA:3098
Camptobrachydactyly	Short toe, Septate vagina, Hand polydactyly, Brachydactyly, Congenital finger flexion contracture...	OMIM:114150
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Brachydactyly, Delayed ossification of carpal bones	OMIM:618392
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Three M Syndrome 3	Clinodactyly of the 5th finger, Prominent calcaneus, Slender long bone, Hip dysplasia	OMIM:614205
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Brachydactyly	ORPHA:1919
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening...	OMIM:300863
Trichorhinophalangeal Syndrome, Type I	Cone-shaped epiphyses of the middle phalanges of the hand, Clinodactyly, Swelling of proximal int...	OMIM:190350
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Talipes valgus, Avascular necrosis of the capital fe...	OMIM:212720
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Absent Achilles reflex, Pes planus, Hyporeflexia of lower limbs, Cal...	ORPHA:93952
Hypochondroplasia	Flared metaphysis, Limited elbow extension, Trident hand, Brachydactyly, Short long bone, Short f...	OMIM:146000
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal intern...	ORPHA:1772
Cri-Du-Chat Syndrome	Microretrognathia, Cryptorchidism, Single transverse palmar crease, Pes planus, Metatarsus adduct...	OMIM:123450
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Equinovarus deformity, Micrognathia, Triphalangeal thumb, Rocker bott...	ORPHA:3078
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce...	ORPHA:94090
Three M Syndrome 2	Short 5th finger, Thin ribs, Slender long bone, Clinodactyly, Prominent calcaneus, Scapular winging	OMIM:612921
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Brachydactyly, Camptodac...	OMIM:301026
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Classical-Like Ehlers-Danlos Syndrome Type 2	Radioulnar dislocation, Joint dislocation, Elbow dislocation, Sandal gap, Knee dislocation, Abnor...	ORPHA:536532
Roifman-Chitayat Syndrome	Short metatarsal, Cone-shaped epiphysis, Short metacarpal, Arthritis	OMIM:613328
Chst3-Related Skeletal Dysplasia	Rhizomelia, Irregular epiphyses, Small epiphyses, Genu valgum, Cubitus valgus, Brachydactyly, Sho...	ORPHA:263463
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Bowing of the legs, Apl...	ORPHA:2502
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Wilson-Turner Syndrome	Small hand, Micrognathia, Pes cavus, Cryptorchidism, Hypogonadotropic hypogonadism, Pes planus, S...	ORPHA:3459
Craniosynostosis 3	Bicoronal synostosis, Single transverse palmar crease, Hallux valgus, Sagittal craniosynostosis, ...	OMIM:615314
Multiple Osteochondromas	Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo...	ORPHA:321
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Irregular epiph...	OMIM:607326
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Peroneal muscle atrophy, Camptodactyly of finger, Abnormal foot morphology, Absent Achilles refle...	ORPHA:324442
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy, Bifid scrotum	ORPHA:1547
Mesomelia-Synostoses Syndrome	Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b...	ORPHA:2496
Roifman Syndrome	Short toe, Irregular femoral epiphysis, Hip contracture, Single transverse palmar crease, Short d...	OMIM:616651
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Slender long bone, Micrognathia, Clinodactyly of the 5th toe, Short p...	OMIM:170390
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing, Limited elbow ...	OMIM:616723
Anonychia-Ectrodactyly	Aplasia of metacarpal bones, Split hand	OMIM:106900
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irregular acetabula...	OMIM:184252
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
X-Linked Intellectual Disability, Miles-Carpenter Type	Hypogonadism, Rocker bottom foot	ORPHA:85283
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Rudiger Syndrome	Ovarian cyst, Single transverse palmar crease, Short digit, Micropenis, Bicornuate uterus, High a...	OMIM:268650
Leri Pleonosteosis	Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of ...	ORPHA:2900
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Cryptorchidism, Radioulnar synostosis, Brac...	ORPHA:921
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Abnormal metacarpal morphology, Short thumb, Duplication of the distal phalanx ...	ORPHA:973
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Wormian bone...	OMIM:619638
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared metaphysis, Enl...	OMIM:215150
Czech Dysplasia	Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa vara, Narrow femoral neck, Sho...	OMIM:609162
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ...	OMIM:612310
Morm Syndrome	Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Micropenis, Retinal dystrophy	ORPHA:75858
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of...	OMIM:114300
Charlie M Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly	ORPHA:1406
Variegate Porphyria, Childhood-Onset	Short metacarpal, Short finger	OMIM:620483
Marinesco-Sjögren Syndrome	Hypogonadism, Avascular necrosis of the capital femoral epiphysis, External genital hypoplasia, M...	ORPHA:559
Potocki-Shaffer Syndrome	Single transverse palmar crease, Wormian bones, 2-5 finger cutaneous syndactyly, Brachydactyly, M...	OMIM:601224
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Short middle phalanx of ...	ORPHA:63442
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Abn...	OMIM:300244
Pitt-Hopkins Syndrome	Short fifth metatarsal, Small hand, Clinodactyly, Prominent fingertip pads, Supernumerary nipple,...	OMIM:610954
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Cubitus valgus, Brachydactyly, Primary amen...	ORPHA:247768
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Cryptorchidism, Arachnoda...	OMIM:600325
Acrocephalopolydactyly	Genu recurvatum, Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Spastic Paraparesis And Deafness	Hypogonadism, Cataract	OMIM:312910
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Nicolaides-Baraitser Syndrome	Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphology, Sandal gap, Join...	ORPHA:3051
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Van Maldergem Syndrome 2	Cutaneous syndactyly of toes, Clinodactyly, Bifid scrotum, Cutaneous finger syndactyly, Micrognat...	OMIM:615546
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot...	OMIM:250420
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta...	OMIM:163400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasia of the odonto...	OMIM:226980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing, Hip dysplasia	ORPHA:1858
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Micrognathia, P...	ORPHA:96148
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog...	ORPHA:1422
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
C Syndrome	Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ...	OMIM:211750
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bone ossification, M...	OMIM:184250
Talonavicular Coalition	Abnormality of the ankle, Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finge...	OMIM:186750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Horizontal ribs, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Combined Oxidative Phosphorylation Defect Type 39	Prominent calcaneus, Cryptorchidism, Ankle clonus	ORPHA:565624
Van Maldergem Syndrome 1	Clinodactyly, Abnormal foot morphology, Cutaneous finger syndactyly, Micrognathia, Short clavicle...	OMIM:601390
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Bifid scrotum, Genu valgum, Hypogonadotropic hypogonadism, Abnorm...	ORPHA:1295
Cardiac-Valvular Ehlers-Danlos Syndrome	Genu recurvatum, Joint dislocation, Sandal gap, Recurrent shoulder dislocation, Genu valgum, Hall...	ORPHA:230851
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ...	ORPHA:2491
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Clinodactyly, Short middle phalanx of toe, Radial deviatio...	OMIM:602849
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Short metacarpal, Talipes	ORPHA:2611
Acrofacial Dysostosis, Catania Type	Micrognathia, Cryptorchidism, Single transverse palmar crease, Brachydactyly, Spina bifida occult...	OMIM:101805
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Laurence-Moon Syndrome	Finger syndactyly, Cryptorchidism, Bilateral single transverse palmar creases, Displacement of th...	ORPHA:2377
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Anterior rib c...	OMIM:271665
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Wrist flexion contracture, Arthritis, Congenital finger...	OMIM:208250
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Cone-shaped epiphysis, Delayed cranial suture closure, Abnormality of the wrist, Bilateral single...	ORPHA:2511
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Increased carrying angle, 2-3 toe syndactyly, Clinodactyly of the 5th toe...	OMIM:261990
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Arachnodactyly, Talipes equi...	ORPHA:562528
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbow disloca...	OMIM:166300
Anauxetic Dysplasia 2	Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic iliac body, Brachydactyly, Metaphysea...	OMIM:617396
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Male pseudohermaphroditism, Brachydactyly, Short phalanx of finger, Short metacarpal	OMIM:600092
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone level, Hypoca...	OMIM:618883
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Micrognathia, Cryptorchidism, Camptodactyly, Rocker bottom foot	OMIM:618393
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Depression, Elevated circulating phytanic acid concentration, A...	OMIM:614307
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o...	ORPHA:363417
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Retinopathy, Short humerus, Lateral femoral bowing, Bowing of the ...	OMIM:239000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplas...	OMIM:618395
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Hypogonadism, Cryptorchidism, Narrow palm, Micropen...	OMIM:615547
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Microcephaly 27, Primary, Autosomal Dominant	Short finger, Cryptorchidism, Metatarsus adductus, Micropenis, Clinodactyly of the 5th finger, Hi...	OMIM:619180
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, External genital hypoplasia, Narrow palm, Hypogonadotropic hypogonadism, Short foot, ...	ORPHA:177910
Intellectual Disability, Wolff Type	Short distal phalanx of finger, Broad thumb, Microretrognathia, Camptodactyly of finger, Cryptorc...	ORPHA:3080
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly, Hypergonadotropic hypogonadism	ORPHA:2850
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Polydipsia, Elevated circulating parathyroid hormone level, Hyperc...	OMIM:617994
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Bilateral single transverse palmar creases, Hip contracture, Hyp...	ORPHA:353298
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Bro...	OMIM:620073
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Micrognathia, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyly...	ORPHA:444002
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyly, Metaphyseal widening, Shor...	OMIM:618961
Dysplasia Epiphysealis Hemimelica	Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Abnormal fe...	ORPHA:1822
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Uterus didelphys, Limited elbow flexion, Rhizomelic arm...	OMIM:164745
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Brachydactyly, Osteoarthritis	ORPHA:2762
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Hyperphosphatemia, Hyperostosis, Angioid streaks of the fundus, Conjunctival...	OMIM:211900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial...	OMIM:276820
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Metaphyseal dysplasia, Abn...	ORPHA:239
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Micrognathia, Hand clenching, Rocker bottom foot, Cryptorchidism	OMIM:618766
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Small hand, Elevated circulating luteinizing hormone level, Decreased response to growth hormone ...	OMIM:300845
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Attenuation of retinal blood vessels, Polydactyly, Postaxial polydact...	OMIM:615986
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Hypogonadism, Decreased testicular size, Pes cavus, Cryptorchidism, Pes p...	OMIM:300354
Blue Diaper Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Elevated circulating ...	ORPHA:94086
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Cubitus valgus, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Camptodactyly of finger, Micrognathia, Cryptorchidism, Wormian bones, Brach...	ORPHA:2863
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Bifid scrotum, Micrognathia, Cryptorchidism,...	ORPHA:93328
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda...	ORPHA:440354
Wolfram-Like Syndrome	Optic atrophy, Male hypogonadism, Depression, Peripheral axonal neuropathy, Central diabetes insi...	ORPHA:411590
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Lowry-Wood Syndrome	Pigmentary retinopathy, Shallow acetabular fossae, Squared iliac bones, Multiple joint dislocatio...	OMIM:226960
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Brachydactyly, Fused cervical vertebrae	ORPHA:1436
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Pterygium, Dumbbell-shaped humerus, Femoral bowing,...	OMIM:211350
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Decreased nerve conduction velocity, Abnormal pupil morphology, Elevat...	ORPHA:101082
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Optic atrophy, Iris cyst	OMIM:620086
Craniofrontonasal Dysplasia	Hypospadias, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hand...	ORPHA:1520
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy, Secondary amenorrhea, Premature ovarian insufficiency	OMIM:620312
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Talipes equinovarus, Rocker bottom foot	OMIM:616570
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Small epiphyses, Adducted th...	OMIM:620269
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Distal Symphalangism	Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Camptodactyly of f...	ORPHA:3248
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Temtamy Syndrome	Short toe, Micrognathia, Pes planus, Brachydactyly, Clinodactyly of the 5th finger, Genu varum	ORPHA:1777
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, 2-3 toe syndactyly, Talipes...	ORPHA:3306
Scholte Syndrome	Small hand, Patellar hypoplasia, Decreased testicular size, Acromicria, Micropenis, Short foot	OMIM:300977
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Abnormal ilium morphology, Aplasia/Hypoplasia of the vertebrae, Upper lim...	ORPHA:168549
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Bilateral single transverse ...	ORPHA:1001
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Short fourth metatarsal, Cryptorchidism, Single transverse palmar...	OMIM:618143
Achondroplasia	Rhizomelia, Hip joint hypermobility, Limited elbow extension, Trident hand, Knee joint hypermobil...	ORPHA:15
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Depression, Type II diabetes mellitus, Optic disc pallor, Diabetes mellitus	OMIM:614296
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Adducted thumb, Hydrocele testis, Brachydactyly, Single transverse palmar crease	OMIM:620062
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Maternal Uniparental Disomy Of Chromosome X	Camptodactyly of finger, Azoospermia, Cubitus valgus, Ambiguous genitalia, Rocker bottom foot, Go...	ORPHA:261519
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Micrognathia, Cryptorchidism, Metaphyseal chondrodysplasia, Hallux valgus, Pes planus, Brachydact...	ORPHA:166035
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Micrognathia, Limited elbow movement, Brachydactyly, Short foot, Proxim...	OMIM:300590
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Joint dislocation, Femoral bowing, Limited elb...	OMIM:618019
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Micrognathia, Talipes, Diaphyseal undertubulation, Cos...	OMIM:215140
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Cryptorchidism, Single transverse palm...	OMIM:601358
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Rectovaginal fi...	OMIM:600373
Opsismodysplasia	Rhizomelia, Metaphyseal cupping, Hypoplasia of the odontoid process, Posterior rib cupping, Hypop...	OMIM:258480
Ollier Disease	Precocious puberty, Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Abnorma...	ORPHA:296
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra...	ORPHA:1515
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease...	ORPHA:2410
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st...	ORPHA:1263
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Steel Syndrome	Carpal synostosis, Pes cavus, Limited elbow extension, Pes planus, Coxa vara, Clinodactyly of the...	OMIM:615155
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short clavicles, Short 4th metacarpal, Microretrognathia, Joint dislocation	OMIM:606220
Laron Syndrome	Short toe, Micrognathia, Brachydactyly, Osteoarthritis, Hypoplasia of penis, Abnormality of the e...	ORPHA:633
Galactosemia Iv	Hepatomegaly, Cataract, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
1Q21.1 Microduplication Syndrome	Cataract, Cryptorchidism, Talipes equinovarus, Attention deficit hyperactivity disorder, Hypospadias	ORPHA:250994
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Genu valgum, Cubitus valgus, Metaphyseal striations, Sle...	OMIM:608154
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Optic pit, Chorioretinal coloboma	OMIM:616428
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ...	ORPHA:3429
Aromatase Deficiency	Delayed epiphyseal ossification, Female infertility, Ambiguous genitalia, female, Genu valgum, Fe...	ORPHA:91
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Cone-shaped ep...	OMIM:266920
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Hypospadias, Precoc...	OMIM:210720
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the palmar creases, Prominent metopic ridge, Long fingers, Thyroid hypoplasia, Cal...	ORPHA:521445
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ta...	OMIM:134780
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Unilateral brachyd...	OMIM:173800
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Pigmentary retinopathy, Brachydactyly, Rod-cone dystrophy	OMIM:600151
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ...	OMIM:608940
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Short ribs, Advanced ossification of carpal bones, S...	OMIM:215045
Mitochondrial Trifunctional Protein Deficiency	Equinovarus deformity, Pes cavus, Equinus calcaneus, Decreased patellar reflex, Hypoparathyroidism	ORPHA:746
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Abnormality of the uterus, Polydactyly, Short phalanx of fi...	ORPHA:59315
Pontocerebellar Hypoplasia, Type 12	Micrognathia, Talipes equinovarus, Overlapping fingers, Rocker bottom foot	OMIM:618266
Dermatoosteolysis, Kirghizian Type	Abnormal diaphysis morphology, Abnormal foot morphology, Abnormality of the wrist, Abnormality of...	ORPHA:1657
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Brachydactyly, Abnormal testis morphology, Tapered finger	ORPHA:317
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Limited elbow extension and supination, Cryptorchidism, Brachydactyly, Dislocated ra...	ORPHA:401935
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Genu valgum, Delayed pubic bone o...	OMIM:620099
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Broad thumb, Finger clinodactyly, Flared metaphysis, Cryptorchidism, ...	OMIM:617137
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Micrognathia, Cryptorchidism, Single transverse palmar crease, Talipes equinovaru...	OMIM:611890
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Block vertebrae, Hypoplasia of the ...	OMIM:272460
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h...	OMIM:601198
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Wi...	OMIM:187601
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Brachydactyly, Limited elbow extension and supination, Abnormal v...	OMIM:244600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Horizontal ribs, Short ribs, Postaxial polydactyly, Ambiguous genit...	OMIM:617895
Hec Syndrome	Abnormal pupil morphology, Abnormal retinal vascular morphology, Vaginal hydrocele, Developmental...	ORPHA:2119
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Hy...	ORPHA:2969
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol...	ORPHA:88630
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Short 5th metacar...	OMIM:618569
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
Greenberg Dysplasia	Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Anterior rib punctate ca...	ORPHA:1426
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Knee dislocation, Small epiphyses, Genu valgum, Micrognathia, Hip contracture,...	OMIM:618363
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret...	ORPHA:179
Aarskog-Scott Syndrome	Short 5th finger, Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid proc...	OMIM:305400
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Classic Galactosemia	Cataract, Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79239
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Irregular epiphyses, Abno...	ORPHA:1824
Pelger-Huet Anomaly	Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Pes cavus, Polydactyly, Short...	OMIM:169400
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Broad ribs, Brachydactyly, ...	OMIM:608328
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morphology, Mesomelic/r...	ORPHA:2347
Autosomal Dominant Hypocalcemia	Optic atrophy, Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia, R...	ORPHA:428
Anauxetic Dysplasia 1	Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow flexion contractu...	OMIM:607095
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni...	OMIM:204000
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Foot polydactyly, Sh...	OMIM:305600
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Clitoral hypertrophy, Micrognathia, Short clavicles, Brachydactyly, Hyp...	OMIM:614592
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Craniosynostosis, ...	OMIM:619451
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Equinovarus deformity, Elbow flexion contracture, Micrognathia, Acetab...	ORPHA:1143
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Cryptorchidism, Talipes, Rectoperineal fistula...	OMIM:107480
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Small hand, Clinodactyly, Micrognathia, Acromicria, Short foot	ORPHA:254525
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Micrognathia, Cryptorchidism, 2-3 t...	OMIM:618659
Schneckenbecken Dysplasia	Hypoplastic scapulae, Advanced tarsal ossification, Short ribs, Limb undergrowth, Dumbbell-shaped...	OMIM:269250
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ...	OMIM:143095
Wiedemann-Steiner Syndrome	Short 5th finger, Small hand, Short toe, Long hallux, Contracture of the distal interphalangeal j...	OMIM:605130
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane, Brachydactyly, Precocious puberty	ORPHA:79414
Trisomy 8P	Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal...	ORPHA:264450
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Supernumerary nipple, Acetabular spurs, Broad long bone diaphyses,...	OMIM:614376
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Bifid scr...	ORPHA:1784
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Postaxial polydactyly, B...	OMIM:614500
Pitt-Hopkins Syndrome	Small hand, Finger clinodactyly, Supernumerary nipple, Narrow foot, Cryptorchidism, Single transv...	ORPHA:2896
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Pancreatic cysts, Hypoplastic pelvis, Early ossifica...	OMIM:208500
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Radial he...	OMIM:146510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
3M Syndrome	Thin ribs, Congenital hip dislocation, Hypospadias, Rocker bottom foot, Slender long bone, Microm...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Brachydactyly, Metaphyseal widening, ...	OMIM:612813
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Chromosome Xq27.3-Q28 Duplication Syndrome	Small hand, Hypogonadism, Decreased testicular size, Cryptorchidism, Increased circulating gonado...	OMIM:300869
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Premature ovarian ins...	ORPHA:3156
Combined Oxidative Phosphorylation Deficiency 2	Patent ductus arteriosus, Brachydactyly	OMIM:610498
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Abnormal rib morphology, ...	ORPHA:2145
Cystinosis	Type I diabetes mellitus, Polydipsia, Rickets, Portal hypertension, Retinopathy, Hypokalemia, Hyp...	ORPHA:213
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
Microcephaly-Albinism-Digital Anomalies Syndrome	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia	ORPHA:2513
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shaped ca...	OMIM:300232
Myopathy, Tubular Aggregate, 1	Weakness of the intrinsic hand muscles, Abnormal pupil morphology, Elevated circulating creatine ...	OMIM:160565
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:99845
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Hypogonadism, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar aplasi...	ORPHA:221008
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microretrognathia, Oligodactyly, Abno...	ORPHA:1307
Qazi-Markouizos Syndrome	Cryptorchidism, Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormal retinal vascular morphology...	ORPHA:1390
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Hip osteoarthritis, Osteoarthritis, Flattened metacarpal heads	OMIM:271600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d...	ORPHA:363741
Stuve-Wiedemann Syndrome 1	Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes,...	OMIM:601559
Luscan-Lumish Syndrome	Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries, Long foot	OMIM:616831
Acrofacial Dysostosis, Palagonia Type	Small hand, Finger syndactyly, Micrognathia, Short 4th metacarpal, Spina bifida occulta	ORPHA:1787
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Short ribs, Carpal bone hypoplasia...	OMIM:252600
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Abnormality of the uterus, Camptodactyly of finger, Breast aplasi...	ORPHA:3138
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi...	OMIM:263650
Cocaine Embryofetopathy	Short distal phalanx of finger, Encephalocele	ORPHA:1911
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology	ORPHA:2643
Lujan-Fryns Syndrome	Camptodactyly of finger, Micrognathia, Arachnodactyly, Brachydactyly, Macroorchidism	ORPHA:776
Humero-Radial Synostosis	Elbow dislocation, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Ta...	ORPHA:3265
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi...	ORPHA:314795
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint dislocation, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench f...	OMIM:618870
Myotonic Dystrophy 1	Cataract, Cholelithiasis, Hypogonadism, Facial diplegia, Obsessive-compulsive trait, Testicular a...	OMIM:160900
Liberfarb Syndrome	Delayed epiphyseal ossification, Retinal pigment epithelial mottling, Retinal degeneration, Metap...	OMIM:618889
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Gonadal dysgenesis, Bilateral single transverse palmar creases, Polycystic ovaries, ...	ORPHA:1770
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Micrognathia, Metaphyseal chondrodysplasia, Brachydactyly, Metaph...	OMIM:250410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ...	OMIM:264700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Optic disc pallor, Cryptorchidism	OMIM:613730
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Clitoral hypertrophy, Ulnar radial head dislocation, Ambiguous genital...	OMIM:264270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Short 5th finger, Congenital hip dislocation, Bilateral single transverse palmar creases, Single ...	OMIM:133705
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5th finger, Sp...	OMIM:617877
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Brachydactyly, Cryptorchidism, Abnormality of the elbow	ORPHA:2701
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Ambigu...	OMIM:615503
Rin2 Syndrome	Cryptorchidism, Pes planus, Brachydactyly, Premature ovarian insufficiency, Hypergonadotropic hyp...	ORPHA:217335
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia...	OMIM:256520
Acrofacial Dysostosis, Catania Type	Small hand, Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Cry...	ORPHA:1786
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint...	ORPHA:1860
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla...	ORPHA:1147
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Semilobar ...	OMIM:601370
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract, Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, He...	OMIM:614876
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou...	OMIM:148820
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Alagille Syndrome	Keratoconus, Short distal phalanx of finger, Cholestasis, Abnormal pupil morphology, Cryptorchidi...	ORPHA:52
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di...	OMIM:620663
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Sclerosteosis	Optic atrophy, Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand,...	ORPHA:3152
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Spastic Paraplegia 20, Autosomal Recessive	Clinodactyly, Pes cavus, Ankle clonus, Brachydactyly, Ulnar deviation of the hand, Camptodactyly,...	OMIM:275900
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Brachydactyly, Bilateral single transverse p...	ORPHA:1581
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu...	ORPHA:1327
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Optic atrophy, Myelomeningocele, Epiphyseal stippling, Brachydact...	ORPHA:1914
Tonne-Kalscheuer Syndrome	Broad thumb, Decreased testicular size, Micrognathia, Cryptorchidism, Pes planus, Brachydactyly, ...	OMIM:300978
Osteogenesis Imperfecta, Type Viii	Thin ribs, Slender long bone, Radial bowing, Femoral bowing, Tibial bowing, Wormian bones, Femora...	OMIM:610915
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Abnormality of retinal pigmentation, Brachydactyly, Clinodactyly ...	ORPHA:2163
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda...	ORPHA:710
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,...	OMIM:258860
6Q25 Microdeletion Syndrome	Camptodactyly of finger, External genital hypoplasia, Micrognathia, Clinodactyly of the 5th finge...	ORPHA:251056
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Slender long bone, Wrist swelling, Camptodactyly of finger, Metaca...	ORPHA:2774
Weill-Marchesani Syndrome	Brachydactyly, Short thumb	ORPHA:3449
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Premature osteoarthriti...	ORPHA:93284
Frontonasal Dysplasia 1	Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas...	OMIM:136760
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shorteni...	OMIM:151210
Refsum Disease	Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Short metacarpal, Hammertoe	ORPHA:773
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ...	OMIM:277440
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ...	ORPHA:289157
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Eye poking, ...	OMIM:204100
Combined Oxidative Phosphorylation Deficiency 47	Cataract, Toe syndactyly, Elevated circulating hepatic transaminase concentration, Cryptorchidism...	OMIM:618958
Chromosome 8Q21.11 Deletion Syndrome	Micrognathia, Cryptorchidism, Syndactyly, Micropenis, Camptodactyly, Short metacarpal, Absent pal...	OMIM:614230
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera...	ORPHA:457205
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Micrognathia, Aplasia/Hypoplasia of the patella...	ORPHA:1225
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve...	OMIM:240950
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Osteoglosphonic Dysplasia	Rhizomelia, Micrognathia, Cryptorchidism, Brachydactyly, Craniosynostosis	ORPHA:2645
Cofs Syndrome	Cataract, Optic atrophy, Camptodactyly of finger, Hypogonadism, Abnormality of retinal pigmentation	ORPHA:1466
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Breast aplasia, Absent hand, Aplasia/Hypopla...	ORPHA:570
Warburg Micro Syndrome 1	Optic atrophy, Microcornea, External genital hypoplasia, Overlapping toe, Cryptorchidism, Develop...	OMIM:600118
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Cryptorchidism, Broad foot, Limited elbow movement, Hypoplastic...	OMIM:261540
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Optic atrophy, Retinopathy, Talipes equinovarus, Macular atrophy, Optic di...	OMIM:616171
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Amelia, Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly	OMIM:601163
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Brachydactyly, Verte...	ORPHA:2916
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypernatremia, Hypoma...	ORPHA:94093
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Micromelia, Equinovarus deformity, Broad long bones, Micrognathia,...	OMIM:224400
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Ovarian carcinoma, Polydactyly, Dow...	OMIM:109400
Chondrodysplasia Punctata 1, X-Linked Recessive	Hypogonadism, Short distal phalanx of finger, Epiphyseal stippling	OMIM:302950
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar creases,...	ORPHA:2083
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Steep a...	OMIM:610758
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Cataract, Depression, Sensory axonal neuropathy, Dysphagia	ORPHA:329314
Perrault Syndrome 4	Cubitus valgus, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulatin...	OMIM:615300
Cardiospondylocarpofacial Syndrome	Synostosis of carpal bones, Brachydactyly, Short palm	ORPHA:3238
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Bilateral cryptorchidism, Decreased response to growt...	ORPHA:485405
Symptomatic Form Of Hfe-Related Hemochromatosis	Infertility, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hypothyroidism, ...	ORPHA:465508
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Joint dislocation, Short toe, Ulnar deviation of the 2nd finger,...	OMIM:616145
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal bones, Sclero...	ORPHA:371428
Roberts Syndrome	Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplas...	ORPHA:3103
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly, Wide anterior fontanel	ORPHA:313781
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosis, Patellar a...	ORPHA:221016
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Small epiphyses, Microg...	ORPHA:93346
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly	ORPHA:2824
Fetal Akinesia Deformation Sequence 3	Micrognathia, Overlapping fingers, Rocker bottom foot, Talipes	OMIM:618389
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the wrist, Tarsal synostosis, Abnormality of the ankle, Carpal synostosis	ORPHA:2010
Hall-Riggs Syndrome	Brachydactyly, Metaphyseal dysplasia	OMIM:234250
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,...	OMIM:114290
15Q24 Microdeletion Syndrome	Hypospadias, Small hand, Clinodactyly, Microphallus, Decreased response to growth hormone stimula...	ORPHA:94065
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Trapezoida...	OMIM:307800
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Depression, Amenorrhea, Peripheral axonal neuropathy, Premature ovarian insufficiency	OMIM:619425
Coffin-Lowry Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Abnormal diaphysis morphology...	ORPHA:192
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowi...	ORPHA:249
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu...	ORPHA:91495
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Coronal craniosynostosis, Clitoral hypertrophy, Steep acetabula...	ORPHA:313855
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Orthostatic hypoten...	ORPHA:1764
Kid Syndrome	Palmoplantar keratoderma, Patellar hypoplasia, Equinus calcaneus, Delayed pubic bone ossification...	ORPHA:477
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Genu valgum,...	ORPHA:93160
Opsismodysplasia	Broad thumb, Abnormal epiphysis morphology, Brachydactyly, Hypoplastic pubic bone, Squared iliac ...	ORPHA:2746
Atelosteogenesis Type I	Rhizomelia, Joint dislocation, Abnormal pancreatic duct morphology, Micrognathia, Talipes equinov...	ORPHA:1190
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Glandular hypospadias, Cryptorch...	ORPHA:2473
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol...	ORPHA:1106
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Riboflavin Transporter Deficiency	Iris hypopigmentation, Abnormality of macular pigmentation, Hypogonadism, Abnormal cranial nerve ...	ORPHA:97229
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Ulbright-Hodes Syndrome	Abnormal penis morphology, Thin ribs, Clitoral hypertrophy, Abnormal forearm bone morphology, Fib...	ORPHA:3404
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Brachydactyly, Cryptorchidism	OMIM:614607
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Bilateral talipes equinovarus, Pes valgus, Equinus calcaneus, 2-3 toe syndactyly	ORPHA:522077
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr...	OMIM:313200
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Micrognathia, Equinus calcaneus, Limited elbow extensi...	OMIM:154700
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Brachydactyly, Hip d...	ORPHA:2655
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Short hallux, Clinod...	ORPHA:2662
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp...	ORPHA:50945
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Kennedy Disease	Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu...	ORPHA:481
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Brachydactyly, Clinodac...	ORPHA:137834
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Genu valgum, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypos...	ORPHA:1381
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Retinal degeneration, Brachydactyly, Short long bone, Postaxial hand polydactyly, Hy...	OMIM:615630
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar...	ORPHA:2307
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Delayed pubic bone ossification, Limited elbow movement, Tali...	OMIM:183900
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Norrie Disease	Uterine rupture, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal retinal vascular mo...	ORPHA:649
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal...	ORPHA:209959
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Recurrent patellar disl...	OMIM:619143
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Ambiguous genitalia, female, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Fused...	ORPHA:2975
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Short toe, Clinodactyly of the 5th finger, Short phalanx of finger, Large kne...	OMIM:619269
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Cone/cone-rod...	OMIM:602271
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Microphallus, Bifid scrotum, Micrognathia, Abnormal scrotum morph...	ORPHA:397590
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, M...	ORPHA:783
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Hypogonadism, Decreased testicular size, ...	OMIM:209900
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Depression, Violent behavior, Emotional lability, Retinopathy, Irritability, Compu...	ORPHA:216873
14Q22Q23 Microdeletion Syndrome	Small scrotum, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Micrognathia, Bilateral s...	ORPHA:264200
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Talipes equinovarus, Cutane...	OMIM:236500
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Broad r...	ORPHA:2021
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Single transverse pa...	OMIM:617866
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Optic atrophy, Abnormal epiphysis morphology, Joint dislocation, ...	ORPHA:53
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Talipes valgus, Overlapping toe, Clinoda...	ORPHA:221120
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Cholelithiasis, Decreased testicular size, Micrognathia, Cryptorc...	OMIM:300534
Galactosemia I	Increased level of galactitol in red blood cells, Cataract, Decreased liver function, Elevated ci...	OMIM:230400
Martsolf Syndrome 2	Cataract, Camptodactyly of finger, Overlapping toe, Hypogonadotropic hypogonadism, Developmental ...	OMIM:619420
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly, Rod-cone dystrophy, Retinal deg...	ORPHA:79320
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot	OMIM:619072
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Enlargement of the wrists, Fibular bowing, Femoral bowi...	OMIM:600081
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Optic atrophy, Cryptorchidism	OMIM:619310
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl...	ORPHA:93317
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Rocker bottom foot	OMIM:618506
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Micrognathia, Adducted thumb, Brachydactyly, Abnormality of the humerus	ORPHA:1794
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Brachydactyly, Mesomelia	ORPHA:171866
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc...	ORPHA:3258
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal foot morphology, A...	ORPHA:3219
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, 2-5 f...	OMIM:619339
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Decreased circulating parathyroid hormone level, Delayed epiphyseal ossification, Rickets, Enlarg...	OMIM:241530
Jansen-De Vries Syndrome	Small hand, Short foot, Brachydactyly	OMIM:617450
Cach Syndrome	Cataract, Optic atrophy, Gonadal dysgenesis, Hepatosplenomegaly, Irritability, Optic neuritis, No...	ORPHA:135
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Wolfram Syndrome 1	Cataract, Optic atrophy, Pigmentary retinopathy, Limited mobility of proximal interphalangeal joi...	OMIM:222300
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Elevated circulating parathyroid hormone level, Craniof...	OMIM:122860
Adams-Oliver Syndrome 6	Foot oligodactyly, Brachydactyly, Syndactyly	OMIM:616589
Phenylketonuria	Cataract, Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyper...	OMIM:261600
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, Hypoplasti...	OMIM:156550
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Joint contracture of the hand, Clitoral hypertrophy, Pigmentary retinopathy, Opacificat...	OMIM:214110
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno...	ORPHA:1452
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Camptodactyly of finger, Micrognathia, Micropenis, Rocker bottom foot	OMIM:610756
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Deep longitudinal plantar crease, Elbow flexion contracture, Micro...	OMIM:214150
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal digit morphology, Abnormal fear-induced behavior, Pseudobulbar para...	ORPHA:208441
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Bilateral si...	ORPHA:502
Bardet-Biedl Syndrome 6	External genital hypoplasia, Postaxial polydactyly, Vaginal atresia, Hypospadias, Syndactyly	OMIM:605231
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Anterior pituita...	OMIM:181450
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Cataract, Cholelithiasis, Depression, Pigmentary retinopathy, Giant ce...	ORPHA:79095
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent p...	OMIM:618469
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Recurrent mandibular subluxations, Micrognathia, Limb undergrowth, Delayed closure of ...	OMIM:225410
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Hallux valgus, Brachydactyly, Clinodactyly of the 5t...	ORPHA:1305
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Cataract	OMIM:254000
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Brachydactyly, Cli...	ORPHA:1005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Sandal gap, Camptodactyly of finger, Supernumerary nipple, Bicoronal synostosis, Micrognathia, Cr...	OMIM:619951
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Partial duplication of t...	OMIM:616331
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha...	OMIM:100800
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Shoulder flexion contracture, Joint dislocation, Elbow flexion con...	OMIM:193700
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Deep palmar crease, Short metacarpal	OMIM:617190
Endocrine-Cerebroosteodysplasia	Sex reversal, Small scrotum, Sandal gap, Micromelia, Preaxial polydactyly, Microphallus, Fibular ...	OMIM:612651
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Hypospadias, Joint dislocation, Prominent fingertip pads, Decreased response ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Hypospadias, Joint dislocation, Prominent fingertip pads, Decreased response ...	ORPHA:363958
Distal Duplication 5Q	Absent thumb, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hypoplasia of ...	ORPHA:96097
Temtamy Syndrome	Micrognathia, Talipes equinovarus, Pes planus, Brachydactyly, Short 2nd toe, Hip dislocation	OMIM:218340
Cree Impaired Intellectual Development Syndrome	Bifid scrotum, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of t...	OMIM:606851
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph...	ORPHA:39044
Kury-Isidor Syndrome	Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima...	OMIM:619762
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Supernumerary nipple, Hypogonadism, Decreased fertility, Abnormality of retinal pi...	ORPHA:1173
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Micrognathia, Brachydactyly, Craniosynostosis	OMIM:618265
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypopla...	ORPHA:2911
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Micrognathia, Short clavicles, Acroosteolysis of distal phalanges...	OMIM:608612
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Micrognathia, Single transverse palmar crease, Brachydactyly, Camptodactyly	OMIM:613604
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi...	OMIM:210710
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Delayed cranial suture closure, Prominent crus of helix, Bilatera...	ORPHA:794
Joubert Syndrome 10	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly	OMIM:300804
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro...	ORPHA:3077
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Abnormality of the fir...	OMIM:135100
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Clinodactyly, Micrognathia, Cryptorchidism, Brachydactyly, Proximal placement of thu...	OMIM:217980
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegal...	OMIM:606069
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Limb-Mammary Syndrome	Joint contracture of the hand, Hypoplastic nipples, Hallux valgus, Split hand, Camptodactyly, Spl...	OMIM:603543
Coffin-Siris Syndrome 6	Micrognathia, Wormian bones, Brachydactyly, Clinodactyly	OMIM:617808
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Cryptorchidism, Single transverse palmar crease, Polydactyly, Br...	OMIM:618950
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Decreased testicular size, Breast hy...	ORPHA:432
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Annular pancreas, Irregular epiphyses, Delayed pubic bone ossification, Knee flexion ...	OMIM:618162
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Increased carrying angle, Brachydactyly	OMIM:247410
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati...	ORPHA:2088
Rhyns Syndrome	Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, Short long b...	OMIM:602152
Say Syndrome	Ulnar deviation of the 3rd finger, Short distal phalanx of finger, Micrognathia, Tapered finger	OMIM:181180
Short Syndrome	Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ...	ORPHA:3163
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Pseudohypoparathyroidism, Cubitus valgus, Brachydactyly, Short me...	OMIM:617157
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Optic disc pallor, Broad thumb, Vaginal hernia	ORPHA:3173
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Annular pancreas, Overlapping to...	ORPHA:488642
Diencephalic Syndrome	Optic atrophy, Long penis, Abnormality of the hypothalamus-pituitary axis, Large hands	ORPHA:1672
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Clitoral hypoplasia, Micrognathia, Cryptorchidism, Micropenis, Brachyd...	OMIM:616894
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea	OMIM:617272
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot...	ORPHA:53271
Genitopalatocardiac Syndrome	Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Brachydactyly, Gonadal dysgenesis, male...	ORPHA:2075
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy, Abnormal metacarpal morphology, Brachydactyly	ORPHA:93262
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma...	ORPHA:99879
Achondrogenesis Type 2	Cataract, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossification, Abno...	ORPHA:93296
Galactokinase Deficiency	Cataract, Nuclear cataract, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased...	ORPHA:79237
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Micrognathia, Cubitus valgus, Hall...	OMIM:620072
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Single transverse palmar creas...	OMIM:617425
Retinitis Pigmentosa 30	Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta...	OMIM:607921
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Clinodactyly, Sandal gap, Ectopia pupillae, 3-4 toe syndactyly, Broad ha...	OMIM:618727
Thanatophoric Dysplasia Type 2	Micromelia, Abnormal metaphysis morphology, Brachydactyly, Patent ductus arteriosus	ORPHA:93274
Leukoencephalopathy With Vanishing White Matter 4	Optic atrophy, Secondary amenorrhea, Primary amenorrhea	OMIM:620314
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hypophosphatemia, Hepatomegaly, Dysph...	OMIM:219800
Meckel Syndrome 12	Micrognathia, Vaginal atresia, Antecubital pterygium, Hypoplasia of the uterus, Rocker bottom foot	OMIM:616258
Hypomagnesemia 3, Renal	Polydipsia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Increased circulat...	OMIM:248250
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Triphalangeal thumb, Brachydactyly, M...	OMIM:604757
Fraser-Like Syndrome	Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst	OMIM:229230
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Broad thumb, Toe syndactyly, Broad hallux, Proximal/middle sympha...	OMIM:184460
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Abnormal joint morphology, Flexion contract...	ORPHA:485
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy...	OMIM:251270
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hepatic failure, Flared metaphysis, Cranial hyperostosis, Hepatosplenom...	OMIM:259720
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Micromelia, Cryptorchidism, Decreased calvarial ossification, Ambiguous genitalia, Hypo...	ORPHA:2772
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Fibular bowing...	OMIM:300554
Gorlin Syndrome	Palmar pits, Plantar pits, Cryptorchidism, Arachnodactyly, Hypogonadotropic hypogonadism, Ovarian...	ORPHA:377
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly, Micropenis	OMIM:602361
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Cry...	ORPHA:139471
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, Joint contracture of the 5th finger, Joint contracture of the 4th finge...	OMIM:618914
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger	OMIM:222748
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Short metacarpal, Acetabular dysplasia	OMIM:201180
Frank-Ter Haar Syndrome	Flared metaphysis, Delayed cranial suture closure, Micrognathia, Bowing of the long bones, Talipe...	OMIM:249420
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Bro...	OMIM:228520
Hall-Riggs Syndrome	Limb undergrowth, Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis morphology	ORPHA:2107
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Gen...	OMIM:225500
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am...	ORPHA:893
Robinow Syndrome, Autosomal Recessive 2	Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac...	OMIM:618529
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Cone-shaped epiphysis, Short finger, Micrognathia, Crypto...	OMIM:619841
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Geleophysic Dysplasia 1	Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with rounded proximal end...	OMIM:231050
Chand Syndrome	Short fifth metatarsal, Imperforate hymen	ORPHA:1401
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Tarsal synostosis, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Toe syndactyly, Triangular tibia, Talar aplasia	OMIM:619218
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Abnormal rib morphology, P...	ORPHA:1318
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Retinitis Pigmentosa 71	Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P...	OMIM:616394
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Precocious puberty, Abnormal epiphysis morphology, Hypogo...	ORPHA:2588
Leber Congenital Amaurosis 9	Keratoconus, Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood ves...	OMIM:608553
Infantile Systemic Hyalinosis	Micromelia, Camptodactyly of finger, Polycystic ovaries, Brachydactyly, Short palm	ORPHA:2176
Spinocerebellar Ataxia, Autosomal Recessive 20	Camptodactyly, Talipes equinovarus, Brachydactyly, Clinodactyly	OMIM:616354
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Microretrognathia, Broad 2nd toe, Finger clinodactyly, Camptodact...	ORPHA:1692
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Arteriosclerosis, Severe Juvenile	Central retinal vessel vascular tortuosity, Short phalanx of finger, Central fundal arteriolar mi...	OMIM:208060
4H Leukodystrophy	Cataract, Optic atrophy, Decreased response to growth hormone stimulation test, Abnormality of th...	ORPHA:289494
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Galactose Mutarotase Deficiency	Cataract, Decreased liver function, Cholestasis, Hepatomegaly, Hypergalactosemia	ORPHA:570422
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly, Abnormal rib morphology	ORPHA:2180
Leber Congenital Amaurosis 4	Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy, Opti...	OMIM:604393
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad thumb, Broad hallux, Insulin-resistant diabetes mellitus, Decreased testicular size, Overla...	ORPHA:293967
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Retinal vascular tort...	OMIM:619471
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Floating-Harbor Syndrome	Varicocele, Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb und...	ORPHA:453510
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia...	OMIM:265000
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Hajdu-Cheney Syndrome	Foot acroosteolysis, Genu valgum, Fibular bowing, Micrognathia, Cryptorchidism, Crowded carpal bo...	OMIM:102500
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Cryptorchidism, Displacement of the urethral meatus, Deep ...	ORPHA:1752
Neonatal Adrenoleukodystrophy	Cataract, Optic atrophy, Abnormality of the liver, Primary adrenal insufficiency, Abnormality of ...	ORPHA:44
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Hip dysplasia	OMIM:618381
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Abnormal finger...	ORPHA:896
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Microcornea, Rhizomelia, Ectopia pupillae, 2-3 toe syndactyly, Scle...	OMIM:615877
Ovarian Dysgenesis 2	Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco...	OMIM:300510
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Coffin-Lowry Syndrome	Bifid sternum, Single transverse palmar crease, Uterine prolapse, Tapered finger, Pes planus, Dru...	OMIM:303600
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenal insufficiency, Motor axonal neuropathy, Decreased circulating cortisol lev...	OMIM:231550
Filippi Syndrome	Optic atrophy, 2-4 toe syndactyly, Finger clinodactyly, Cryptorchidism, Single transverse palmar ...	OMIM:272440
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Aplasia/Hypoplasia involving bones of the ...	ORPHA:1521
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Adrenal medullary hypoplasia, Optic atrophy, Depression, Genu valgum, Astigmatism	OMIM:248000
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Sensory axonal neuropathy, Elevated circulating aspartate aminotransferase concent...	OMIM:271245
Hypophosphatemic Bone Disease	Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs	OMIM:146350
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Microretrognathia, Talipes equinovarus, Short digit, Brachydactyl...	OMIM:615789
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia, Cataract, Abnormal pupil shape, Hypogonadotropic hypogonadism, Anisocoria, Optic ...	ORPHA:45358
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Brachydactyly	OMIM:614526
Triploidy	Cataract, Iris coloboma, Finger syndactyly, Abnormality of the gallbladder, Cryptorchidism, Decre...	ORPHA:3376
Congenital Disorder Of Glycosylation, Type Ij	Cataract, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Single transve...	OMIM:608093
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormality of the lower limb, Ta...	ORPHA:974
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplasia of the fe...	OMIM:615349
Hyperparathyroidism, Neonatal Severe	Polydipsia, Elevated circulating parathyroid hormone level, Hypercalcemia, Splenomegaly, Hypophos...	OMIM:239200
Progeria-Short Stature-Pigmented Nevi Syndrome	Short distal phalanx of finger, Micrognathia, Brachydactyly, Micropenis, Premature ovarian insuff...	ORPHA:2959
Christian Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Prominent metopic ridge	OMIM:309620
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Clubbing, Male infertility	ORPHA:244
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Aplastic clavicle, Hypospadias, Finger syndactyly, Delayed cranial sut...	ORPHA:2658
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Micro...	ORPHA:989
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Bent Bone Dysplasia Syndrome 2	Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem...	OMIM:620076
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Aggressive behavior, Atten...	OMIM:152950
X-Linked Hypophosphatemia	Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m...	ORPHA:89936
Dubowitz Syndrome	Hypospadias, Small hand, Broad thumb, Toe syndactyly, Sandal gap, Delayed cranial suture closure,...	ORPHA:235
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Drumstick terminal phalanges, Brachydactyly, Cryptorchidism	OMIM:612938
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Brachydactyly, Short metacarpal, Short humerus	ORPHA:508542
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r...	OMIM:300578
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Hydrometrocolpos, Horizontal ribs, Aplasia of the epiglottis, Postaxial po...	OMIM:617088
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemic r...	ORPHA:157215
Zellweger Syndrome	Cataract, Clitoral hypertrophy, Optic atrophy, Hepatic failure, Primary adrenal insufficiency, Ep...	ORPHA:912
Pycnodysostosis	Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Persistent open anterior ...	ORPHA:763
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Cryptorchidism, 2-3 toe syndactyly, Abnormal optic disc morphology, Pi...	OMIM:617516
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Brachydactyly, Clinodactyly	OMIM:614261
Pallister-Hall Syndrome	Small scrotum, Broad thumb, Toe syndactyly, Radial bowing, Hydrometrocolpos, Polydactyly affectin...	ORPHA:672
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Osteomalacia, Genu valgum, Cryptorchidism, Hypophosphatemia, Chorioretinal dysplasia...	ORPHA:534
Alexander Disease	Microcoria	OMIM:203450
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Depression, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary...	OMIM:600740
Isolated Atp Synthase Deficiency	Cataract, Optic atrophy, Hypogonadism, Hyperammonemia, Hypothyroidism, Hyperalaninemia, Rod-cone ...	ORPHA:254913
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Optic atrophy, Cryptorchidism, Peripheral axonal neuropathy, Delayed puberty, Corneal o...	ORPHA:496790
Nephronophthisis 11	Hepatic fibrosis, Anisocoria, Polydipsia, Retinal degeneration	OMIM:613550
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Micrognathia, Cryptorchidism, Single transverse pal...	OMIM:610759
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Decreased testicular size, Elevated circulating aspartate aminotransferase concent...	OMIM:610198
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Pearson Syndrome	Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Dyspha...	ORPHA:699
Craniofrontonasal Syndrome	Axillary pterygium, Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux...	OMIM:304110
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Hepatic fibrosis, Acute hepatic failure, Hepatosplenomegaly, Talipes equinovarus	ORPHA:466794
Smith-Magenis Syndrome	Abnormal forearm morphology, Pes planus, Brachydactyly, Broad palm, Short palm	OMIM:182290
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormal epiphysis morphology, Micromelia, Abnormal female external genitalia...	ORPHA:2637
Distal Deletion 9P	Hypoplastic labia majora, Hypospadias, Brachydactyly	ORPHA:1642
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Slender long bone, Delayed cranial suture closure, Cer...	OMIM:601812
Werner Syndrome	Small hand, Chondrocalcinosis, Hypogonadism, Decreased fertility, Aplasia/Hypoplasia of the teste...	ORPHA:902
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Persistent ope...	ORPHA:1798
Warburg Micro Syndrome 2	Cataract, Microcornea, Small scrotum, Optic atrophy, Overlapping toe, Cryptorchidism, Clinodactyl...	OMIM:614225
Cone-Rod Dystrophy, X-Linked, 3	Abnormality of macular pigmentation, Astigmatism, Cone/cone-rod dystrophy, Retinal detachment, Op...	OMIM:300476
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Delayed cranial suture closure, Micrognathia, Ab...	ORPHA:2484
Pycnodysostosis	Aplastic clavicle, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Wor...	OMIM:265800
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Brachydactyly, Short long bone, Hypospadias, Short palm	OMIM:619184
Distal Deletion 6P	Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Anterior synechiae of the ante...	ORPHA:96125
Retinitis Pigmentosa	Keratoconus, Posterior subcapsular cataract, Optic atrophy, Hypogonadism, Hyperinsulinemia, Atten...	ORPHA:791
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Emotional lability, Primary amenorrhea, Premature ovarian insufficiency, Primary g...	OMIM:603896
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cryptorchidism, Brachydactyly, Camptodactyly, Clinodactyly of the 5th finger	OMIM:619123
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Horizontal ribs, Broad foot, Sh...	OMIM:269860
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic labia majora, Ambig...	OMIM:200110
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Bilateral cryptorchidism, Micrognathia, Hand polydacty...	ORPHA:2754
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Clinodactyly, Short thumb, Avascular necrosis of the capital femo...	ORPHA:2044
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca...	OMIM:617247
Orthostatic Hypotension 1	Brachydactyly, Retrograde ejaculation, Reduced circulating prolactin concentration	OMIM:223360
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Hypophosphatemia, Elevated circula...	OMIM:300555
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Bowing of the long bones, Metaphyseal chondrodysplasia, Hypophos...	OMIM:156400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Hypoplasia of the odontoid process, ...	OMIM:616007
Turner Syndrome Due To Structural X Chromosome Anomalies	Genu valgum, Micrognathia, Pes planus, Splayed toes, Primary amenorrhea, Premature ovarian insuff...	ORPHA:99413
Mosaic Monosomy X	Genu valgum, Micrognathia, Pes planus, Splayed toes, Primary amenorrhea, Premature ovarian insuff...	ORPHA:99228
Monosomy X	Genu valgum, Micrognathia, Pes planus, Splayed toes, Primary amenorrhea, Premature ovarian insuff...	ORPHA:99226
Turner Syndrome	Genu valgum, Micrognathia, Pes planus, Splayed toes, Primary amenorrhea, Premature ovarian insuff...	ORPHA:881
Retinitis Pigmentosa 57	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:613582
Triple A Syndrome	Optic atrophy, Palmoplantar keratoderma, Adrenal insufficiency, Motor axonal neuropathy, Abnormal...	ORPHA:869
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Clinodactyly, Elbow flexion contracture, Hypogonadism, ...	OMIM:616200
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Abnormal internal genitalia, Ap...	OMIM:273250
Mirage Syndrome	Microphallus, Radial club hand, Decreased testicular size, Overlapping fingers, Cryptorchidism, T...	OMIM:617053
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Microretrognathia, Adducted thumb	ORPHA:89844
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Small cervical vertebral bodies, Supernumerary nipple, Rhizomelic arm shor...	ORPHA:397715
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Walker-Warburg Syndrome	Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Abnorma...	ORPHA:899
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Abnormal rib morphology, Short...	ORPHA:3015
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Hypoplastic frontal sinuses, Cryptorchidism, Absent gallbladder, Pes pl...	OMIM:300712
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Broad thumb, Brachydactyly	OMIM:617763
Srd5A3-Cdg	Cataract, Optic atrophy, Elevated circulating hepatic transaminase concentration, Palmoplantar ke...	ORPHA:324737
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Rhizomelia, Small epiphyses, Genu valgum, Limited elbow extension, Metaphyseal striati...	OMIM:271510
Corneodermatoosseous Syndrome	Palmoplantar keratoderma, Abnormality of the hand, Abnormal metacarpal morphology, Brachydactyly,...	ORPHA:3194
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Finger clinodactyly, Breast hypoplasia, Cryptorchidism, Brachydactyly, Shawl scrot...	OMIM:601353
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Brachydactyly, Coxa v...	OMIM:614701
Werner Syndrome	Cataract, Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Reduced bo...	OMIM:277700
Duane Retraction Syndrome	Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central heterochromia, Preaxial hand ...	ORPHA:233
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Mosaic Trisomy 9	Hypoplastic female external genitalia, Elbow dislocation, Finger clinodactyly, Camptodactyly of f...	ORPHA:99776
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly	OMIM:614800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Talipes equinovalgus, Overlapping fingers, Cryptorchidism, Metopic sy...	OMIM:301056
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Elevated circulating parathyroid hormone level, Rickets, Hypercalcemia, Hypo...	OMIM:612089
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Refractory Celiac Disease	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Abnorma...	ORPHA:398063
Sandestig-Stefanova Syndrome	Clinodactyly, Bilateral single transverse palmar creases, Camptodactyly, Rocker bottom foot, Prom...	OMIM:618804
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limb undergrowth, Brachydactyly, Short foot, Limite...	OMIM:617809
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Hypoplastic female external genitalia, Toe syndactyly, Synostosis...	ORPHA:1507
Hereditary Bullous Dystrophy, Macular Type	Cataract, Short finger, Decreased testicular size, External genital hypoplasia, Cryptorchidism, C...	ORPHA:1867
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Horizontal...	OMIM:263520
Genitopatellar Syndrome	Congenital hip dislocation, Small scrotum, Clitoral hypertrophy, Inferior pubic ramus hypoplasia,...	OMIM:606170
Limb-Mammary Syndrome	Toe syndactyly, Absent nipple, Oligodactyly, Breast aplasia, Aplasia of the ovary, Aplasia of the...	ORPHA:69085
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Microretrognathia, Brachydactyly, Cryptorchidism	ORPHA:457193
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Micrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyly, Sca...	OMIM:617061
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Displacement of the urethral meatus, Leukocoria, Hypothyroidis...	ORPHA:1556
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Trisomy 9P	Clinodactyly of the 5th finger, Abnormal pupil morphology, Brachydactyly, Bilateral single transv...	ORPHA:236
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Optic neuropathy, Brachydactyly	OMIM:620237
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlargement of the wrists, Fibular bowing...	OMIM:300009
Distal Deletion 17Q	Optic atrophy, Small hand, Deviation of finger, Micromelia, Bilateral single transverse palmar cr...	ORPHA:1597
Meckel Syndrome 14	Postaxial foot polydactyly, Microretrognathia, Micrognathia, Bowing of the long bones, Postaxial ...	OMIM:619879
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Hypophosphatemia, Bowing of the legs	ORPHA:89937
Rere-Related Neurodevelopmental Syndrome	Self-injurious behavior, Hypospadias, Optic atrophy, Peters anomaly, Chorioretinal coloboma, Asti...	ORPHA:494344
Macs Syndrome	Micrognathia, Cryptorchidism, Single transverse palmar crease, Pes planus, Brachydactyly, Hypergo...	OMIM:613075
Cinca Syndrome	Delayed closure of the anterior fontanelle, Joint dislocation, Brachydactyly, Abnormal joint morp...	ORPHA:1451
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Metopic synostosis, Pes planus...	OMIM:620494
Popliteal Pterygium Syndrome	Small scrotum, Intercrural pterygium, Popliteal pterygium, Bifid scrotum, Cutaneous finger syndac...	OMIM:119500
Autosomal Dominant Optic Atrophy, Classic Form	Cataract, Optic atrophy, Hypogonadism, Hypothyroidism, Scapular winging, Dysphagia, Temporal opti...	ORPHA:98673
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Pes valgus, Brachydactyly, Ankle clonus	OMIM:619995
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Spinal muscular atrophy, type I, with congenital bone fractures	Arachnodactyly, Congenital hip dislocation, Rocker bottom foot	OMIM:271225
Distal Deletion 13Q	Optic atrophy, Primary adrenal insufficiency, Aplasia/Hypoplasia of the thumb, Abnormality of the...	ORPHA:1590
Wagro Syndrome	Cataract, Hypoplastic female external genitalia, Decreased testicular size, Aniridia, Low frustra...	OMIM:612469
Proteasome-Associated Autoinflammatory Syndrome 2	Brachydactyly, Clinodactyly	OMIM:618048
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Distal Monosomy 7Q36	Optic atrophy, Cryptorchidism, Bilateral single transverse palmar creases, Clinodactyly of the 5t...	ORPHA:1636
Smith-Magenis Syndrome	Precocious puberty, Toe syndactyly, Micrognathia, Hand polydactyly, Pes planus, Brachydactyly, Cl...	ORPHA:819
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Rickets, Hypophosphatemia,...	OMIM:616026
3C Syndrome	Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Missing ribs, Hand polydactyly, Br...	ORPHA:7
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism,...	OMIM:180700
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Precocious puberty, Lower limb asymmetry, Clinodactyly, Decreased response to growth hormone stim...	ORPHA:96182
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Depression, Sensory axonal neuropathy, Primary amenorrhea, Testicular atrophy, Prematur...	OMIM:157640
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Cryptorchidism, Aplasia/Hypoplasia of the patella	ORPHA:1069
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Cryptorchidism, Talipes equinovarus, Hepatomegaly, Optic disc pallor, Intra...	OMIM:214100
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Polydipsia, Rickets, Abnorm...	ORPHA:411629
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Borjeson-Forssman-Lehmann Syndrome	Cataract, Small scrotum, Short toe, Hypogonadism, Decreased testicular size, Cryptorchidism, Camp...	ORPHA:127
Stt3B-Cdg	Micropenis, Small scrotum, Optic atrophy, Cryptorchidism	ORPHA:370924
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Rickets, Osteomalacia, Elevated circulating aspartate ami...	OMIM:227810
Oculo-Palato-Cerebral Syndrome	Cataract, Small hand, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Sh...	ORPHA:2714
Kleefstra Syndrome 1	Cryptorchidism, Single transverse palmar crease, Talipes equinovarus, Brachydactyly, Micropenis, ...	OMIM:610253
Hemorrhagic Fever-Renal Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Elevated circulating ...	ORPHA:340
Warburg Micro Syndrome 3	Cataract, Microcornea, Small scrotum, Optic atrophy, Decreased testicular size, Developmental cat...	OMIM:614222
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal p...	ORPHA:99880
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Xq12-Q13.3 Duplication Syndrome	Bulimia, Cutaneous finger syndactyly, Cryptorchidism, Elevated circulating creatine kinase concen...	ORPHA:314389
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Perineal fistula,...	OMIM:218600
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Small scrotum, Optic atrophy, Cryptorchidism	OMIM:615597
Lissencephaly 8	Cataract, Talipes equinovarus, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,...	OMIM:110100
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Charcot-Marie-Tooth Disease Type 1E	Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Decreased nerve...	ORPHA:90658
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Breast hypoplasia, Enlarged polycystic ovaries, Primary amenorrh...	ORPHA:785
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Pancreatic hypoplasia, Tibial torsion, Camptodactyly of finger, Elbow flexion contr...	OMIM:602782
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Clinodactyly, Short proximal phalanx of the 5th finger, Hypoplastic nipples, Brach...	ORPHA:261323
Parathyroid Carcinoma	Polydipsia, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic ade...	ORPHA:143
Trisomy 13	Cataract, Optic atrophy, Ectrodactyly, Abnormal morphology of female internal genitalia, Aplasia/...	ORPHA:3378
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Infantile Refsum Disease	Cataract, Optic atrophy, Elevated circulating phytanic acid concentration, Rod-cone dystrophy, He...	ORPHA:772
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Long hallux, Genu valgum, Cryptorchidism, Arachnodactyly, Chordee, Pes planus, Hypospadias, Synda...	ORPHA:261537
Kapur-Toriello Syndrome	Cataract, Joint contracture of the hand, Short thumb, Camptodactyly of finger, Retinal coloboma, ...	OMIM:244300
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Elevated circulating creatinine concentration, Papillede...	OMIM:620366
Eales Disease	Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis...	ORPHA:40923
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract...	OMIM:151050
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Oncogenic Osteomalacia	Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femur morphology, Tibial bowi...	ORPHA:352540
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Talipes equinovarus, Eleva...	OMIM:614866
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi...	ORPHA:90797
Zika Virus Disease	Wrist swelling, Optic disc hypoplasia, Retinal pigment epithelial mottling, Chorioretinal atrophy...	ORPHA:448237
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal foot morphology, ...	ORPHA:261318
Microphthalmia, Lenz Type	Self-injurious behavior, Cataract, Microcornea, Hypospadias, Finger syndactyly, Chorioretinal col...	ORPHA:568
Warburg Micro Syndrome 4	Small scrotum, Microcornea, Optic atrophy, Decreased motor nerve conduction velocity, Decreased t...	OMIM:615663
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bo...	OMIM:619479
Grange Syndrome	Brachydactyly, Finger clinodactyly, Syndactyly	OMIM:602531
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Pigmentary retinopathy, Ad...	OMIM:240300
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of toe, Brachydactyly, Symphalangism affecti...	ORPHA:1292
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Microretrognathia, Preaxial hand p...	OMIM:200990
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone...	ORPHA:289
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon, Abnormal pupil morphology	ORPHA:2151
Lathosterolosis	2-3 toe cutaneous syndactyly, Cataract, Elevated circulating lathosterol concentration, Postaxial...	OMIM:607330
Hereditary Fructose Intolerance	Cataract, Hypermagnesemia, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia, Hepatomegaly...	ORPHA:469
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Mowat-Wilson Syndrome	Webbed penis, Hypospadias, Broad hallux, Bifid scrotum, Septate vagina, Genu valgum, Cryptorchidi...	ORPHA:2152
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Yunis-Varon Syndrome	Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Micrognathia, Cryptorchidism, ...	ORPHA:3472
Tarp Syndrome	Clinodactyly, Micrognathia, Single transverse palmar crease, Postaxial polydactyly, Talipes equin...	OMIM:311900
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Tibial torsion, Supernumerary nipple, Overlapping toe, Cryptorchidism, 2-3 toe syndactyly, Microp...	OMIM:618653
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Cataract, Microcornea, Small hand, 2-4 toe cutaneous sy...	OMIM:257850
Radio-Tartaglia Syndrome	Precocious puberty, Micrognathia, Pes cavus, Pes planus, Brachydactyly, Tapered finger	OMIM:619312
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Carpal synostosis, Elbow flexion contracture, Cutaneous finger syndactyly, H...	OMIM:178110
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Splenomegaly, Osteopetrosis, Hepatomegaly, Optic disc pallor, Facial palsy, Increa...	OMIM:611490
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Phimo...	ORPHA:2908
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Glandular hypospadias, Micrognathia, Talipes equinovarus, Brachydactyl...	ORPHA:1358
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Optic atrophy, Cryptorchidism, Vaginal atresia, Septo-optic dysplasia, Iri...	ORPHA:3301
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Micrognathia, Postaxial polydactyly, 2-3 toe syndacty...	OMIM:614099
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea...	ORPHA:90796
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Enlargement of the ankles, Metaphyseal cupping, Irregular iliac crest, Multiple enchondromatosis,...	ORPHA:99646
Robinow Syndrome	Webbed penis, Short distal phalanx of finger, Radioulnar dislocation, Small scrotum, External gen...	ORPHA:97360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Camptodactyly, Rocker bottom foot, Micrognathia	OMIM:604273
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Wieacker-Wolff Syndrome, Female-Restricted	Radial deviation of the hand, Microretrognathia, Hip contracture, Talipes equinovarus, Achilles t...	OMIM:301041
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Abnormal hip joint morphology, ...	ORPHA:85408
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract, Joint contracture of the hand, Optic atrophy, Pigmentary retinopathy, Peripheral demyel...	OMIM:609033
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Short toe, Delayed ossification of carpal bones, Tapered finger	OMIM:239300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia	OMIM:612287
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Hypoplastic labia majora, Sho...	ORPHA:3107
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Micrognathia, Cryptorchidism, Sin...	ORPHA:2886
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydrometrocolpos, Mesoaxial hand polydactyly, Transverse vaginal sept...	OMIM:236700
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Decreased response to growth hormone stimulation test, Micrognathi...	ORPHA:363528
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Pituitary Apoplexy	Mydriasis, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:95613
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Rib exostoses, Hydrometrocolpos, Bilateral cryptorchidism, Cone-shaped epiphy...	OMIM:150230
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Short thumb, Supernumerary nipple, Cryptorchidism, Chordee, Brachydactyly, Clinodactyly of the 5t...	ORPHA:477993
Woods Syndrome	Optic atrophy, Supernumerary nipple, Limited elbow extension, Single transverse palmar crease, 3-...	OMIM:615236
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Genu valgum, Hypophosphatemic rickets	OMIM:618913
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Short lower limbs, Retinal detachment, Bowing of the legs	OMIM:219250
Fanconi Renotubular Syndrome 2	Osteopenia, Elevated circulating parathyroid hormone level, Rickets, Osteomalacia, Hypophosphatemia	OMIM:613388
Developmental And Epileptic Encephalopathy 29	Rocker bottom foot, Hip dislocation	OMIM:616339
Frontorhiny	Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Brachydactyly, Hypoplastic frontal...	ORPHA:391474
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Micrognathia, Down-sloping shoulders, Brachydactyly, Shawl scrotum, Clinodacty...	ORPHA:1974
Trichinellosis	Abnormal optic nerve morphology, Central retinal artery occlusion, Irritability, Conjunctival hyp...	ORPHA:863
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cryptorchidism, Retinal degeneration, Cone/cone-rod dystrophy, Diabetes mellitus	OMIM:249270
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Retinal dystrophy...	OMIM:610125
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly, Patent ductus arteriosus	ORPHA:397709
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Decreased response to growth hormone stimulation test, Overlapping toe,...	ORPHA:177907
Alpha-Mannosidosis, Adult Form	Cataract, Osteopenia, Depression, Hepatosplenomegaly, Corneal opacity, Optic disc pallor	ORPHA:309288
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ...	ORPHA:466650
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Flared metaphysis, Hypocalcemia, Splenomegaly, Femur fracture, O...	OMIM:259700
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Hypoplastic labia major...	OMIM:269150
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia	OMIM:612286
Occipital Horn Syndrome	Synostosis of joints, Aplastic clavicle, Delayed cranial suture closure, Humerus varus, Genu valg...	ORPHA:198
Alg8-Cdg	Camptodactyly, Talipes equinovarus, Brachydactyly	ORPHA:79325
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Short distal phalanx of finger, Optic atrophy, Small scrotum, Cryptorchidism, Fundus atrophy	ORPHA:1970
Knobloch Syndrome 1	Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,...	OMIM:267750
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Cryptorchidism, Talipes equinovarus, Radioulnar synostosis, Short hallux, Hypos...	OMIM:194190
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Long hallux, Genu valgum, Cryptorchidism, Arachnodactyly, Chordee, Pes planus, Hypospadias, Synda...	ORPHA:261552
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Joint contracture of the hand, Clitoral hypertrophy, Carpal synostosis, Humeroradi...	OMIM:201750
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Splenomegaly, Osteopetrosis, Hepatomegaly, Facial palsy	OMIM:615085
Juvenile Paget Disease	Optic atrophy, Coarse metaphyseal trabecularization, Cranial hyperostosis, Abnormality of retinal...	ORPHA:2801
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ...	OMIM:613581
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Reduced sperm motility, Rod-cone dystrophy, Macular atrophy, Opti...	OMIM:615434
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Spastic Paraplegia 9A, Autosomal Dominant	Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology, Pes cavus	OMIM:601162
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Cryptorchidism, Fibular hypoplasia, Short rib...	ORPHA:3144
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Micrognathia, Rocker bottom foot, Pes planus, Tapered finger	OMIM:620070
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad ribs, Brachydactyly, Broad metatarsal, Broad palm, Broad metac...	OMIM:277600
Adams-Oliver Syndrome 5	Brachydactyly, Syndactyly	OMIM:616028
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Micro Syndrome	Cataract, Microcornea, Optic atrophy, Retinal coloboma, Cryptorchidism, Abnormality of retinal pi...	ORPHA:2510
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Adducted thumb, Single transverse palmar crease	OMIM:618622
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Mildly elevated creatine kinase, Hypophosphatemic rickets, Single transverse palm...	OMIM:619743
Retinitis Pigmentosa 46	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Multiple Sulfatase Deficiency	Cataract, Optic atrophy, Broad thumb, Abnormality of peripheral nerve conduction, Abnormality of ...	ORPHA:585
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Arachnodactyly, Retinal detachment, Lens subluxati...	ORPHA:171844
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Transketolase Deficiency	Self-injurious behavior, Cataract, Type I diabetes mellitus, Elevated circulating ribitol concent...	ORPHA:488618
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epispadias, Brachydactyly, Hypospadias, Short palm	ORPHA:3339
Meckel Syndrome	Accessory spleen, Cataract, Microcornea, Postaxial foot polydactyly, Optic atrophy, Preaxial hand...	ORPHA:564
Orofaciodigital Syndrome Xix	Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Type A brachydactyly, Postaxial hand po...	OMIM:620107
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Micromelia, Abnormal distal phala...	ORPHA:2636
Myhre Syndrome	Cone-shaped epiphysis, Short toe, Clinodactyly, Short finger, Radial deviation of finger, Hypopla...	OMIM:139210
Dent Disease	Renal hypophosphatemia, Cataract, Delayed epiphyseal ossification, Rickets, Osteomalacia, Enlarge...	ORPHA:1652
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis, Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Motor axo...	ORPHA:247815
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Fetal Cytomegalovirus Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Chorioretiniti...	ORPHA:294
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia	OMIM:134600
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase conce...	OMIM:619487
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Brachydactyly	OMIM:620156
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the male genitalia, Cryptorchidism, Talipes equinovarus, Male pseudohermaphroditis...	ORPHA:847
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
You-Hoover-Fong Syndrome	Brachydactyly, Clinodactyly	OMIM:616954
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ...	OMIM:218330
Carpenter Syndrome 2	Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovar...	OMIM:614976
Filippi Syndrome	Optic atrophy, Finger syndactyly, Supernumerary nipple, Bilateral single transverse palmar crease...	ORPHA:3255
Intellectual Disability-Alacrima-Achalasia Syndrome	Aggressive behavior, Anisocoria, Dysphagia	ORPHA:289483
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis	OMIM:613987
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu...	ORPHA:90793
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Elevated circulating hepatic transaminase concentration, Elevated circulating glut...	ORPHA:66634
Angelman Syndrome	Self-injurious behavior, Keratoconus, Iris hypopigmentation, Precocious puberty in females, Optic...	ORPHA:72
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Va...	OMIM:252500
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Abnormality iris morphology, Cryptorchidism, Hypergonadotropic hypogonadism	ORPHA:250999
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Facial paralysis, Abnormal optic nerve morphology, Decreased motor nerve conductio...	ORPHA:99949
Orofaciodigital Syndrome I	Microretrognathia, Clinodactyly, Radial deviation of finger, Ovarian cyst, Polydactyly, Brachydac...	OMIM:311200
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas...	OMIM:610442
Juvenile Nephropathic Cystinosis	Hypouricemia, Abnormal cornea morphology, Corneal crystals, Polydipsia, Elevated circulating crea...	ORPHA:411634
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bulbous tips of toes, Cryptorchidism, Absent gallbladder, 2-3...	ORPHA:163979
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Cerebrotendinous Xanthomatosis	Cataract, Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis,...	OMIM:213700
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Hypogonadism, Sclerosis of...	ORPHA:2905
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Aplasia of the vagina, Postaxial polydactyly, Aplasia of the uterus, Hip dysplasia,...	ORPHA:457284
Congenital Sialidosis Type 2	Cataract, Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Polydactyly, Hypoplas...	ORPHA:93400
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Reduced bone mineral density, Hypocalcemia, Splenomegaly, Bowing of the ...	ORPHA:667
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Chromosome 18Q Deletion Syndrome	Hypospadias, Toe syndactyly, Decreased response to growth hormone stimulation test, Overlapping t...	OMIM:601808
Miller Fisher Syndrome	Mydriasis, Anisocoria, Dysphagia, Facial palsy	ORPHA:98919
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Hip dysplasia, Short 2nd toe, Clinodactyly of the 5th finger, Rocker bottom foot	OMIM:612582
Fryns Syndrome	Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Microretrognathia, Hypo...	OMIM:229850
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St...	ORPHA:572333
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micr...	ORPHA:818
Jacobsen Syndrome	Annular pancreas, Micrognathia, Cryptorchidism, Missing ribs, Brachydactyly, Labial hypoplasia, C...	OMIM:147791
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone...	OMIM:616469
Cockayne Syndrome Type 1	Cataract, Male hypogonadism, Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic ...	ORPHA:90321
Kabuki Syndrome 2	Short 5th finger, Prominent fingertip pads, Micrognathia, Brachydactyly, Hip dislocation	OMIM:300867
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Arthrogryposis Multiplex Congenita 5	Hand clenching, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Talipes equinovarus, P...	OMIM:618947
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Rod-cone dyst...	OMIM:612674
Elsahy-Waters Syndrome	Bifid scrotum, Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cutaneous finger...	OMIM:211380
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Cryptorchidism, Single transverse palmar crease, Polydacty...	ORPHA:404448
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Small scrotum, Female hypogonadism, Toe syndactyly, Finger syndactyl...	OMIM:607932
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Juvenile Sialidosis Type 2	Cataract, Optic atrophy, Cherry red spot of the macula, Hepatosplenomegaly, Corneal opacity, Hepa...	ORPHA:93399
Neu-Laxova Syndrome 2	Micrognathia, Rocker bottom foot, Toe syndactyly, Finger syndactyly	OMIM:616038
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenes...	OMIM:614195
Serotonin Syndrome	Mydriasis, Hepatic failure, Abnormality of the autonomic nervous system, Irritability, Restlessne...	ORPHA:43116
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Clinodactyly, Micrognathia, Enlarged labia minora, Cryptorchidism, Abnormal...	OMIM:268300
Chops Syndrome	Cervical C2/C3 vertebral fusion, Brachydactyly, Cryptorchidism	OMIM:616368
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Facial paralysis, Cranial hyperostosis, Cranial nerve compression, Hepatosplenomeg...	OMIM:259710
15q26 overgrowth syndrome	Camptodactyly of finger, Abnormal joint morphology, Micrognathia, Arachnodactyly, Long toe, Brach...	DECIPHER:81
Chromosome 17Q12 Deletion Syndrome	Upper limb undergrowth, Micrognathia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasi...	OMIM:614527
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the...	OMIM:600132
Sturge-Weber Syndrome	Optic atrophy, Hyperostosis, Abnormal choroid morphology, Heterochromia iridis, Conjunctival tela...	ORPHA:3205
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Chromosome 16P13.3 Duplication Syndrome	Short toe, Short thumb, Sandal gap, Cervical C5/C6 vertebrae fusion, Micrognathia, Pes cavus, Cry...	OMIM:613458
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e...	ORPHA:90794
Camurati-Engelmann Disease	Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Anorexia, Hepatomegaly, Abnormal m...	ORPHA:1328
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Wolfram Syndrome 2	Optic atrophy, Depression, Oligomenorrhea, Optic neuropathy, Primary amenorrhea, Diabetes insipid...	OMIM:604928
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Incr...	ORPHA:289176
Toriello-Carey Syndrome	Clinodactyly, Micrognathia, Cryptorchidism, Brachydactyly, Wide anterior fontanel	ORPHA:3338
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Hand clenching, Hypoplastic female external genitalia, Elevated circulating aspart...	OMIM:606056
Cohen Syndrome	Optic atrophy, Finger syndactyly, Sandal gap, Genu valgum, Cryptorchidism, Abnormality of retinal...	ORPHA:193
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Irregular menstruation, Finger syndactyly, Aplasia/Hypo...	ORPHA:110
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Broad femoral neck, Sclerosis of skull base, Optic nerve compression, D...	OMIM:619727
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Op...	OMIM:268315
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Type II...	OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Buphthalmos, Persis...	OMIM:613150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,...	OMIM:614643
Infant Botulism	Mydriasis, Hyponatremia, Keratoconjunctivitis sicca, Anorexia, Dysphagia	ORPHA:178478
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Delayed cranial suture c...	OMIM:309350
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Female pseudohermaphroditism, Cryptorchidism, Brachydactyly, Shawl ...	ORPHA:1519
Teebi-Shaltout Syndrome	Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Ulnar deviation of the ha...	OMIM:272950
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Cerebrotendinous Xanthomatosis	Abnormal tibia morphology, Abnormal retinal vascular morphology, Abnormal finger morphology, Opti...	ORPHA:909
Aymé-Gripp Syndrome	Reduced arm span, Delayed cranial suture closure, Breast hypoplasia, Prominent metopic ridge, Cry...	ORPHA:1272
Retinitis Pigmentosa 43	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Decreased response to growth hormone stimulation test, Contracture of the proxi...	OMIM:618223
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Broad hallux, Clinodactyly, 2-3 toe syndac...	OMIM:614188
1Q21.1 Microdeletion Syndrome	Cataract, Toe syndactyly, Depression, Broad thumb, Clinodactyly of the 5th finger, Cryptorchidism...	ORPHA:250989
Cloacal Exstrophy	Abnormal clitoris morphology, Abnormal tibia morphology, Talipes equinovarus, Abnormal fallopian ...	ORPHA:93929
Scalp-Ear-Nipple Syndrome	Cataract, Broad thumb, Finger syndactyly, Breast aplasia, 2-3 toe syndactyly, Developmental catar...	OMIM:181270
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Carpal synostosis, Fusion of middle ear ossicles, Decreased testicular siz...	OMIM:157800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Barber-Say Syndrome	Absent nipple, Micrognathia, Cryptorchidism, Talipes equinovarus, Hypoplastic labia majora, Hypop...	OMIM:209885
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Hypoplastic 5th ...	ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Cryptorchidism, Micropenis, Brachydactyl...	OMIM:309590
Spondyloocular Syndrome	Cataract, Posterior subcapsular cataract, Osteopenia, Overlapping toe, Arachnodactyly, Femur frac...	OMIM:605822
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pu...	OMIM:175780
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Brachydactyly, Absent fourth finger distal interphalangeal crease, Contracture of the...	OMIM:618050
White-Sutton Syndrome	Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Broad foot, Wormian bones, Brachydactyly	OMIM:616364
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Micrognathia, Single transverse palmar crease, Long fingers, Postaxia...	ORPHA:521426
Monosomy 9P	Hypospadias, Abnormal rib morphology, Abnormality of the tarsal bones, Micrognathia, Bilateral si...	ORPHA:261112
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Brachydactyly, Aplasia of ...	ORPHA:364577
Amish Lethal Microcephaly	Optic atrophy, Decreased skull ossification, Irritability, Hepatomegaly, Osteoporosis	ORPHA:99742
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
1P36 Deletion Syndrome	Lower limb asymmetry, Annular pancreas, Camptodactyly of finger, Hypogonadism, Delayed cranial su...	ORPHA:1606
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Optic atrophy, Hyperoxaluria, Epiphyseal stippling, Cirrhosis, Rod-cone dystrop...	OMIM:601539
Pallister-Killian Syndrome	Small scrotum, Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Supernumer...	OMIM:601803
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Delayed cranial suture closure, Micrognathia, Tarsal...	ORPHA:85199
Noonan Syndrome	Delayed menarche, Micrognathia, Cryptorchidism, Radioulnar synostosis, Hypogonadotropic hypogonad...	ORPHA:648
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma cit...	OMIM:261680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Optic atrophy, Peters anomaly, Megalocornea, Cryptorchidism, Elevated circulating creat...	OMIM:236670
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Optic atrophy, Palmoplantar keratoderma, Bifid scrotum, Cryptorchidism, Prominent scrotal raphe, ...	ORPHA:1555
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Optic atrophy, Clitoral hypertrophy, Fused labia minora	OMIM:608688
Congenital Tufting Enteropathy	Cholestatic liver disease, Cataract, Optic disc coloboma, Irritability, Punctate keratitis, Corne...	ORPHA:92050
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Iatrogenic Botulism	Mydriasis, Dysphagia, Orthostatic hypotension	ORPHA:254509
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cataract, Optic atrophy, Elevated circulating hepatic transaminase concentration, Ectopia lentis,...	ORPHA:394
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ...	OMIM:158330
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology, Anisocoria	OMIM:300858
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad...	ORPHA:959
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia	ORPHA:94059
Retinoblastoma	Hypopyon, Pineoblastoma, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of...	ORPHA:790
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Long foot, Hypoplastic nipples, Contr...	OMIM:280000
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Obsessive-compulsive trait, Emo...	ORPHA:273
Smooth Muscle Dysfunction Syndrome	Mydriasis, Retinal infarction, Cryptorchidism	OMIM:613834
Oeis Complex	Congenital hip dislocation, Absence of the sacrum, Ambiguous genitalia, female, 11 pairs of ribs,...	OMIM:258040
Xeroderma Pigmentosum, Complementation Group B	Cataract, Pigmentary retinopathy, Optic atrophy, Hypogonadism, Decreased nerve conduction velocity	OMIM:610651
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Microretrognathia...	ORPHA:280633
Fanconi Anemia, Complementation Group L	Absent thumb, Hypoplastic sacrum, Micrognathia, Aplasia of the uterus, Micropenis, Absent radius,...	OMIM:614083
Raine Syndrome	Micromelia, Long hallux, Bowing of the long bones, Hypophosphatemia, Brachydactyly, Subperiosteal...	OMIM:259775
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la...	OMIM:219090
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia, Lenticonus, Anterior polar cataract	OMIM:104200
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Meester-Loeys Syndrome	Broad distal phalanx of finger, Joint dislocation, Arachnodactyly, Pes planus, Brachydactyly, Cam...	OMIM:300989
Atypical Werner Syndrome	Chondrocalcinosis, Finger clinodactyly, Hypogonadism, Micrognathia, Decreased fertility, Interver...	ORPHA:79474
Noonan Syndrome 1	Radial deviation of finger, Clinodactyly, Hypogonadism, Micrognathia, Cryptorchidism, Synovitis, ...	OMIM:163950
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat...	ORPHA:100924
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Slender finger, Small scrotum, Clinodactyly, Radial deviation of finger, Hypogonadism, Talipes ca...	OMIM:309580
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Anisocoria, Dysphagia, Orthostatic hypotension	OMIM:615510
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Micrognathia, Horizontal ribs, Metopic synostosis, Polydactyly, Short r...	OMIM:613610
Arachnoid Cyst	Mydriasis, Depression, Cranial nerve compression, Disinhibition, Irritability, Abnormality of the...	ORPHA:2356
Cowden Syndrome	Abnormal penis morphology, Palmoplantar keratoderma, Abnormality of the uterus, Goiter, Endometri...	ORPHA:201
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Small scrotum, Optic atrophy, Broad thumb, Bifid scrotum, Thumb contracture, Joint contracture of...	ORPHA:324540
Fetal Akinesia Deformation Sequence 1	Thin ribs, Slender long bone, Camptodactyly of finger, Ulnar deviation of the hand or of fingers ...	OMIM:208150
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hand clenching, Microcornea, Hypospadias, Sandal gap, Broad hallux,...	OMIM:300166
Monosomy 13Q14	Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinodactyly of ...	ORPHA:1587
Maternal Phenylketonuria	Micrognathia, Bifid distal phalanx of the thumb, Brachydactyly, Clinodactyly	ORPHA:2209
Adams-Oliver Syndrome 1	Imperforate hymen, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Brachydactyly	OMIM:100300
Joubert Syndrome 1	Hepatic fibrosis, Postaxial foot polydactyly, Clinodactyly, Chorioretinal coloboma, Optic disc co...	OMIM:213300
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect...	ORPHA:83461
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Micrognathia, Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis,...	OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Elevated circ...	OMIM:613154
Intestinal Botulism	Mydriasis, Dysphagia	ORPHA:178481
Sclerosteosis 1	Irregular menstruation, Optic atrophy, Deviation of finger, Facial palsy secondary to cranial hyp...	OMIM:269500
Toxin-Mediated Infectious Botulism	Mydriasis, Dysphagia	ORPHA:230800
Down Syndrome	Sandal gap, Decreased fertility, Bilateral single transverse palmar creases, Brachydactyly, Clino...	ORPHA:870
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Single transverse pa...	OMIM:190685
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Crouzon Syndrome	Lambdoidal craniosynostosis, Optic atrophy, Coronal craniosynostosis, Keratitis, Sagittal cranios...	OMIM:123500
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hand clenching, Clubbing of toes, Osteopenia, Elbow dislocation, Cryptorchidism, Penile hypospadi...	OMIM:620083
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Hepatomegaly, Optic disc pallor, Hypotriglyceridemia, Decreased LDL chol...	ORPHA:404454
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Cataract, Optic atrophy, Osteopenia, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calci...	OMIM:617913
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Developmental And Epileptic Encephalopathy 100	Small hand, Elbow flexion contracture, Micrognathia, Single transverse palmar crease, Bilateral c...	OMIM:619777
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:618329
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Short ribs, Missing...	OMIM:271520
Loeys-Dietz Syndrome	Joint dislocation, Uterine rupture, Camptodactyly of finger, Micrognathia, Arachnodactyly, Pes pl...	ORPHA:60030
Cockayne Syndrome A	Irregular menstruation, Cataract, Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked...	OMIM:216400
Arterial Tortuosity Syndrome	Rocker bottom foot, Avascular necrosis of the capital femoral epiphysis, Long palm, Arachnodactyl...	ORPHA:3342
Mgat2-Cdg	Hypoplastic nipples, Brachydactyly	ORPHA:79329
Mogs-Cdg	Optic atrophy, External genital hypoplasia, Overlapping fingers, Hepatosplenomegaly, Hypothyroidi...	ORPHA:79330
Facial Spasm	Anisocoria	OMIM:134300
Arboleda-Tham Syndrome	Microretrognathia, Lower limb asymmetry, Sandal gap, Enlarged proximal interphalangeal joints, Bi...	OMIM:616268
Retinoblastoma	Pinealoma, Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis	OMIM:180200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Hypospadias, Broad thumb, Broad hallux, Preaxial hand polydactyly, Retinal colo...	ORPHA:508498
46,Xy Sex Reversal 7	Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon...	OMIM:233420
Charge Syndrome	Bifid femur, Bifid scrotum, Abnormal morphology of female internal genitalia, Abnormal tibia morp...	ORPHA:138
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Single transverse palmar crease, Pes valgus, Pes planus, Brachydactyly,...	ORPHA:466950
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Atelis Syndrome 2	Clinodactyly, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, S...	OMIM:620185
Hermansky-Pudlak Syndrome 8	Myopic astigmatism, Ocular albinism, Astigmatism, Hypoplasia of the fovea, Blue irides, Iris tran...	OMIM:614077
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Hypospadias, Aplasia/hypoplasia of the uterus, Astigmatism, Single trans...	ORPHA:96121
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Micrognathia, Cryptorchidism, Spina bifida occ...	ORPHA:709
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Talipes, Short hallux, Pes planus, Short 5th finger, Abnormal cricoi...	ORPHA:508488
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Supernumerary nipple, Cryptorchidism, Broad foot, Talipes equinovarus, 2-3 finger sy...	OMIM:312870
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Micrognathia, Hip dysplasia, Brachydactyly, Syndactyly	OMIM:620654
Wound Botulism	Mydriasis, Dysphagia	ORPHA:178475
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, Optic atrophy, Elevated circulating hepatic transaminase concentration, Osteopenia...	OMIM:614231
Cornelia De Lange Syndrome 1	Cryptorchidism, Hypoplastic labia majora, Dislocated radial head, Hypospadias, Self-injurious beh...	OMIM:122470
Lesch-Nyhan Syndrome	Self-injurious behavior, Dysphagia, Testicular atrophy, Hyperuricemia	OMIM:300322
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Tali...	OMIM:236680
Bickerstaff Brainstem Encephalitis	Mydriasis, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autono...	ORPHA:79138
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Clitoral hypertrophy, Hypospadias, Peters anomaly, Pigmentary retinopathy, Single trans...	OMIM:309801
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H...	OMIM:229600
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Peripheral schwannoma, Bilateral...	ORPHA:637
Wolf-Hirschhorn Syndrome	Hypospadias, Optic atrophy, Short thumb, Abdominal situs inversus, Megalocornea, Preaxial hand po...	ORPHA:280
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Micrognathia, Single transverse palmar crease, Brachydactyly, Clinodactyly of the 5...	OMIM:617062
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Short toe, Astigmatism, Cryptorchidism, Attention deficit hyperactivity disorder, Fl...	ORPHA:464311
Cockayne Syndrome B	Optic atrophy, Microcornea, Pigmentary retinopathy, Abnormal auditory evoked potentials, Hypoplas...	OMIM:133540
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hypoplasia of proximal radius, Decreased response to growth hormone stimulation test,...	ORPHA:444077
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber	OMIM:618880
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Splenomegaly, Femur ...	OMIM:612301
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Toe syndactyly, Breast hypoplasia, Astigmatism, Cryptorchidism, Polydactyly, Arachno...	ORPHA:464306
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Emotional lability,...	OMIM:250100
Ayme-Gripp Syndrome	Delayed cranial suture closure, Radioulnar synostosis, Brachydactyly, Camptodactyly, Tapered finger	OMIM:601088
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Pes cavus, Abnormal external genital...	OMIM:607872
Retinitis Pigmentosa 74	Posterior polar cataract, Pigmentary retinopathy, Polydactyly, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Micrognathia, Hydrocele testis	OMIM:266810
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Botulism	Mydriasis, Dysphagia	ORPHA:1267
Mowat-Wilson Syndrome	Cataract, Microcornea, Hypospadias, Abnormal enteric ganglion morphology, Chorioretinal coloboma,...	OMIM:235730
Dpagt1-Cdg	Optic atrophy, Elevated circulating hepatic transaminase concentration, Head-banging, Clinodactyl...	ORPHA:86309
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Alternating Hemiplegia Of Childhood	Mydriasis, Oral-pharyngeal dysphagia, Emotional lability, Aggressive behavior, Abnormal autonomic...	ORPHA:2131
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Pes valgus, Pes planus, Brachydactyly, Short palm	ORPHA:466943
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitar...	OMIM:603671
Foodborne Botulism	Mydriasis, Dysphagia	ORPHA:228371
Craniopharyngioma	Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Cent...	ORPHA:54595
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Decreased testicular size, Genu valgum, Hepatic steatosis, Hypoplasia of the ovary...	OMIM:619321
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Wolfram Syndrome	Optic atrophy, Male hypogonadism, Polydipsia, Hypogonadism, Abnormal mesentery morphology, Delaye...	ORPHA:3463
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis, Anterio...	OMIM:206900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe...	OMIM:146255
Pulmonary Alveolar Microlithiasis	Gonadal calcification, Stippled calcification in carpal bones, Decreased fertility, Testicular mi...	ORPHA:60025
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased liver function, Decreased nerve conduction velocity, Adrenal insufficien...	OMIM:614863
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Hypomagnesemia, Hyperthyroidism, Thyrotoxicosis with diffus...	ORPHA:79102
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Finger clinodactyly, Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Brachydactyly, ...	ORPHA:306542
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Sandal gap, Prominent fingertip pads, Short distal phalanx of the 5th toe, ...	OMIM:135900
Leber Congenital Amaurosis 15	Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Per...	OMIM:613843
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Cockayne Syndrome	Lentiglobus, Absence of pubertal development, Cryptorchidism, Peripheral axonal neuropathy, Hepat...	ORPHA:191
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Primary adrena...	OMIM:269200
De Sanctis-Cacchione Syndrome	Optic atrophy, Keratitis, Bilateral cryptorchidism, Axonal degeneration, Bilateral coxa valga, Co...	OMIM:278800
Xeroderma Pigmentosum	Cataract, Optic atrophy, Craniofacial hyperostosis, Keratitis, Pterygium, Decreased testicular si...	ORPHA:910
Alagille Syndrome 1	Cholestasis, Axenfeld anomaly, Posterior embryotoxon, Cirrhosis, Cataract, Microcornea, Hypertrig...	OMIM:118450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short distal phalanx of finger, Broad thumb, Prominent fingertip pads, Broad hallux, Mesoaxial fo...	OMIM:612474
Holoprosencephaly	Panhypopituitarism, Cryptorchidism, Talipes, Hand polydactyly, Brachydactyly, Hypoplasia of penis...	ORPHA:2162
Craniolenticulosutural Dysplasia	Optic atrophy, Posterior Y-sutural cataract, Osteopenia, Cryptorchidism, Punctate cataract	OMIM:607812
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Pancreatitis, Hypocalcemic seizures, Hyper...	ORPHA:405
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an...	ORPHA:79098
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Prominent fingertip pads, Tibial torsion, Hypoplasia of th...	OMIM:619539
Phace Association	Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Horner syndrome, Developmental catarac...	OMIM:606519
Superficial Siderosis	Abnormality of the vestibulocochlear nerve, Anisocoria, Abnormality of the brachial nerve plexus	ORPHA:247245
Revesz Syndrome	Leukocoria, Exudative retinopathy, Megalocornea	OMIM:268130
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Incontinentia Pigmenti	Cataract, Optic atrophy, Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypo...	OMIM:308300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hypoplasia of penis, Iris co...	ORPHA:2250
Pgm3-Cdg	Decreased/absent ankle reflexes, Brachydactyly	ORPHA:443811
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Optic atrophy, Decreased nerve conduction velocity, Oppositional defian...	ORPHA:580
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Long toe, Slender toe, Camptodac...	ORPHA:3063
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Absent distal phalanges, Arachnodactyly, Talipes equ...	OMIM:610168
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity	ORPHA:440727
Dyskeratosis Congenita, X-Linked	Cataract, Optic atrophy, Pterygium, Decreased testicular size, Cryptorchidism, Phimosis, Cirrhosi...	OMIM:305000
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Deviation of the 2nd finger, Optic atrophy, Cerulean ca...	ORPHA:67036
Fraser Syndrome 1	Clitoral hypertrophy, Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Wide pubic ...	OMIM:219000
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Epiretinal m...	OMIM:616959
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Cataract, Broad distal phalanx of finger, Broad thumb, Hypospadias, Abno...	ORPHA:353281
Inhalational Botulism	Mydriasis	ORPHA:254504
Scorpion Envenomation	Mydriasis, Priapism, Elevated circulating aspartate aminotransferase concentration, Hypokalemia, ...	ORPHA:466677
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke...	ORPHA:3337
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Macular edema, Elevated circulating catecholamine level, Neoplasm o...	ORPHA:892
Cancer-Associated Retinopathy	Thymoma, Optic atrophy, Uterine neoplasm, Foveal hyporeflective spaces on macular OCT, Pancreatic...	ORPHA:71505
Vascular Ehlers-Danlos Syndrome	Keratoconus, Uterine rupture, Abnormal pupil morphology, Cystocele, Cryptorchidism, Uterine prola...	ORPHA:286
Cardiac-Urogenital Syndrome	Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Ambiguous genitalia, Pe...	OMIM:618280
Menkes Disease	Chondrocalcinosis, Micrognathia, Bowing of the long bones, Wormian bones, Tarsal synostosis, Abno...	ORPHA:565
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia...	ORPHA:91500
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperextensibility, Cr...	OMIM:130050
Pagod Syndrome	Optic atrophy, Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnor...	ORPHA:991
Restrictive Dermopathy 1	Rocker bottom foot, Overtubulated long bones, Micrognathia, Short clavicles, Osteolytic defects o...	OMIM:275210
Blau Syndrome	Posterior uveitis, Cataract, Keratitis, Abnormal optic nerve morphology, Camptodactyly of finger,...	ORPHA:90340
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly...	ORPHA:64
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula	ORPHA:309246
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Emotional lability, Cryptorchidism, Motor stereotypy, Hypospadias, Syndactyly, Self-...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Emotional lability, Cryptorchidism, Motor stereotypy, Hypospadias, Syndactyly, Self-...	ORPHA:353277
Craniorachischisis	Bifid sternum, Sirenomelia	ORPHA:63260
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cataract, Micromelia, Uterus didelphys, Preaxial hand polydactyly, Abnormal pelvis bone ossificat...	ORPHA:93271
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Retinal crystals, Hyperoxaluria, Retinopathy, Increa...	OMIM:259900
Leptospirosis	Hepatitis, Macular cotton wool spot, Chorioretinitis, Conjunctival hyperemia, Hepatomegaly, Optic...	ORPHA:509
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Abnormal joint mor...	ORPHA:322
Townes-Brocks Syndrome 2	Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias	OMIM:617466
Cocaine Intoxication	Mydriasis, Mania, Agitation, Elevated circulating creatine kinase concentration	ORPHA:90068
Iniencephaly	Rhizomelia, Absent vertebra, Talipes equinovarus, Mandibular aplasia, Rocker bottom foot	ORPHA:63259
Okamoto Syndrome	Polydactyly, Talipes, Hip dysplasia, Bifid uterus, Prominent metopic ridge	ORPHA:2729
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:293987
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of...	ORPHA:284339
Plague	Mydriasis, Depression, Splenomegaly, Conjunctival hyperemia, Anorexia, Hepatomegaly, Abnormality ...	ORPHA:707
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora, Axenfeld anomaly	OMIM:266270
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Abnormal hip joint morphology, Abnormal calcification o...	ORPHA:51608
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Mydriasis	OMIM:619351
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter...	ORPHA:2237
Holoprosencephaly 2	Anterior pituitary agenesis, Chorioretinal coloboma, Adrenal hypoplasia, Remnants of the hyaloid ...	OMIM:157170
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Encephalocraniocutaneous Lipomatosis	Osteochondrosis, Retinopathy, Abnormal cartilage morphology	ORPHA:2396
Viss Syndrome	Microretrognathia, Recurrent joint dislocation, Genu valgum, Micrognathia, Contracture of the pro...	OMIM:619472

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Spleen - MPATH pathological process term hyperplasia	Bmpr1b^em1(IMPC)Mbp	HOM		Early adult

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 Bmpr1b.

No publications found that use IMPC mice or data for Bmpr1b.

Order Mouse and ES Cells

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
Bmpr1b^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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