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Gene: Bmpr1b MGI:107191

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Gene Summary

Name:
bone morphogenetic protein receptor, type 1B
Synonyms:
BMPR-IB,  Alk6,  CFK-43a,  Acvrlk6

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
cataract Bmpr1bem1(IMPC)Mbp HOM   Early adult 1.21×10-05
abnormal optic disk morphology Bmpr1bem1(IMPC)Mbp HOM Early adult 6.86×10-17
decreased grip strength Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Bmpr1bem1(IMPC)Mbp HOM   Early adult 1.24×10-05
small seminal vesicle Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Bmpr1bem1(IMPC)Mbp HOM Early adult 4.15×10-07
abnormal autopod morphology Bmpr1bem1(IMPC)Mbp HOM Early adult 2.92×10-05
small testis Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
irregularly shaped pupil Bmpr1bem1(IMPC)Mbp HOM Early adult 3.19×10-06
abnormal liver morphology Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
small liver Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Bmpr1bem1(IMPC)Mbp HOM Early adult 2.97×10-14
abnormal seminal vesicle morphology Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
female infertility Bmpr1bem1(IMPC)Mbp HOM Early adult 0.00
increased circulating phosphate level Bmpr1bem1(IMPC)Mbp HOM   Early adult 2.11×10-06

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Viewing: all phenotypes

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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... 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
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... 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
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... ORPHA:1453
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Arthropathy, Short distal phalanx of toe, Sho... OMIM:606835
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Cli... OMIM:616849
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Aplasia of the mi... 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
Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl... OMIM:112910
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... OMIM:607078
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Chorioretinal coloboma, Short distal phalanx of finger, Typ... ORPHA:1471
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ... OMIM:226900
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Infertility, Short metacarpal, Decreased testicular size, Micropenis ORPHA:261524
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan... OMIM:180870
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Congenital Vertical Talus
Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Equin... ORPHA:178382
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Arthritis, Abnormal tarsal ossification, Chondritis,... ORPHA:563991
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Abno... OMIM:250460
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Brachydactyly, Short distal phalanx of the 3rd finger, Sh... ORPHA:79445
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... ORPHA:3237
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Acromesomelic Dysplasia 3
Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati... OMIM:609441
Bardet-Biedl Syndrome 5
Polydactyly, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly, Micropenis OMIM:615983
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... ORPHA:1350
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Acromesomelia, Abnormally shaped c... ORPHA:968
Acrodysostosis
Abnormal female external genitalia morphology, Abnormal femur morphology, Short metacarpal, Hypog... ORPHA:950
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o... OMIM:108120
Pseudoachondroplasia
Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Metaphysea... ORPHA:750
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Tetrasomy X
Premature ovarian insufficiency, Clinodactyly of the 5th finger, Radioulnar synostosis, Brachydac... ORPHA:9
Metacarpal 4-5 Fusion
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... OMIM:309630
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Delayed ossification of carpal bones, Bifid scrotum, Ulnar deviation... OMIM:140000
Digitotalar Dysmorphism
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger OMIM:126050
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Sh... OMIM:151200
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Bowen-Conradi Syndrome
Rocker bottom foot, Micrognathia, Clinodactyly of the 5th finger, Abnormal joint morphology OMIM:211180
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced... OMIM:614613
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B... OMIM:618435
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular ro... OMIM:271700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Triangul... 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
Limited elbow extension, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhiker thumb, S... OMIM:614078
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ... ORPHA:93307
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Joint subluxation,... ORPHA:566943
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Exostoses, Multiple, Type Ii
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Short metacarpal, Madelung-like ... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Protuberances at ends of long bones, Rib exostoses, Short metacarpal, Madelung-like ... OMIM:133700
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad metacarpals, Short metacarpal, Short phalanx of finger, Broad phalanx OMIM:618724
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Limited elbow movement, Abnormal carpal morphology, Hypoplasia of the rad... OMIM:127300
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, L... OMIM:600969
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Fifth metacar... OMIM:102370
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Cryptorchidism, Short metacarpal ORPHA:2489
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial 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 finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Patent ductus arteriosus,... OMIM:604381
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Epiphyseal dyspl... ORPHA:79106
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Hypospadias, Short first metatarsal,... ORPHA:2438
Feingold Syndrome Type 2
Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly ORPHA:391646
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... ORPHA:1540
Vertical Talus, Congenital
Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity OMIM:192950
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Bowen-Conradi Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Camptodactyly of finger, Micrognathia, Crypto... ORPHA:1270
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Absent phalangeal crease, Ulnar deviation of the hand or of fingers of the ha... OMIM:601680
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
2q37 monosomy
Brachydactyly DECIPHER:44
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Lattice retinal d... OMIM:619248
Osteochondrosis Of The Metatarsal Bone
Osteochondrosis, Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bon... ORPHA:564003
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... 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, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Genu valgum, Asteroid hyalosis, Epiphyseal dysplasia, Short phalanx of finger, ... OMIM:132450
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Distal symphalangism of hands, Brachydactyly, Di... OMIM:185700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Short ... OMIM:190351
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit... OMIM:186570
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Short metacarpal, Short metatarsal, Brachydactyly OMIM:612463
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Radial head subluxation, Metacarpophalangeal synostosis, Apl... OMIM:186400
Distal Arthrogryposis Type 1
Rocker bottom foot, Talipes, Abnormal hip bone morphology, Camptodactyly of finger, Ulnar deviati... ORPHA:1146
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ... ORPHA:163966
Acromicric Dysplasia
Abnormal femur morphology, Short metacarpal, Short palm, Fifth metacarpal with ulnar notch, Brach... ORPHA:969
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metatarsal, Short metacarpal, Hypergonadotropic hypogonadism, Pes planus, C... OMIM:248800
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Chromosome 20Q11-Q12 Deletion Syndrome
Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly OMIM:614257
Bardet-Biedl Syndrome 4
Polydactyly, External genital hypoplasia, Syndactyly, Hypogonadism, Brachydactyly, Cryptorchidism OMIM:615982
Pde4D Haploinsufficiency Syndrome
Hypospadias, Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Br... ORPHA:439822
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Pseudohypoparathyroidism Type 1B
Irritability, Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Eleva... 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, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Cataract, Hyperphosphatemi... OMIM:146200
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Short metacarpal,... OMIM:103580
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes cavus, Short foot, Pes planus, Cryptorchidism, Tapered finger OMIM:309585
Winchester Syndrome
Osteolysis involving tarsal bones, Broad metacarpals, Arthropathy, Carpal osteolysis OMIM:277950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Cooks Syndrome
Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly ORPHA:1487
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep... OMIM:602875
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Micrognathia,... OMIM:311895
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Decreased response to growth hormone stimula... OMIM:216100
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty... OMIM:601957
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormality of the wrist, Abnormal shoulder morphology, Hip osteoarthritis, Abnormal femoral neck... ORPHA:85438
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormality of the wrist, Abnormal femur morphology, Abnormal hip... ORPHA:3130
Saul-Wilson Syndrome
Madelung deformity, Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Flared ... OMIM:618150
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap OMIM:612916
Larsen-Like Syndrome
Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Radial deviation of th... OMIM:608545
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Premature pubarche, Secondary amenorrhea, Lower limb undergrowth, Brachydactyly, Bowing of the legs OMIM:612847
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Mesomelia, Brachydactyly ORPHA:1277
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Acrootoocular Syndrome
Short finger, Decreased response to growth hormone stimulation test, Sandal gap, Short metacarpal... ORPHA:2980
Acromesomelic Dysplasia 4
Short finger, Broad finger, Genu valgum, Enlargement of the costochondral junction, Short metatar... OMIM:619636
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
49,Xyyyy Syndrome
Large carpal bones, External genital hypoplasia, Abnormality of the epiphyses of the elbow, Cubit... ORPHA:99330
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, 2-4 toe syndactyly, Syndactyly, Azoospermia OMIM:241000
Neuropathy, Congenital, With Arthrogryposis Multiplex
Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs OMIM:162370
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Prominent m... ORPHA:3210
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal hand morphology, Patent ductus arteriosus, Short digit, ... ORPHA:228190
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti... OMIM:113000
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy... ORPHA:1927
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subluxation, Kne... ORPHA:2619
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Increased bone mineral density, Depression, Hypocalcemia, Au... ORPHA:36913
Silver-Russell Syndrome
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Abnormal vagina morphology, Abnormal mal... ORPHA:813
Acromegaloid Facial Appearance Syndrome
Micrognathia, Large hands, Tapered finger, Short 5th metacarpal OMIM:102150
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Genu re... OMIM:184260
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly ORPHA:1937
Tetralogy Of Fallot
Cryptorchidism, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology... ORPHA:429
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Foot joint contracture, Camptodactyly, Talipes equinovarus, Joint contracture... OMIM:614335
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Short phalanx of finger, Brachydactyly, Cryptorchidism, Micropenis, Clinodactyly, S... OMIM:614684
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Toe syndactyly, Brac... ORPHA:1319
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Hypergonadotropic hypogonadism, Cubitus valgus, Azoospermia ORPHA:2183
20Q11.2 Microdeletion Syndrome
Brachydactyly, Adducted thumb, Finger clinodactyly, Camptodactyly ORPHA:444051
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Breast hypoplasia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Oligozoospermia, Short metac... OMIM:614813
Arthrogryposis, Distal, Type 5D
Limited elbow movement, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Limit... OMIM:615065
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Bowing of... OMIM:617974
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior... OMIM:619135
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Short metacarpal, Deformed humeral heads, Coxa vara, Deviation of finger... ORPHA:2831
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited... OMIM:277590
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, De... OMIM:157900
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi... ORPHA:85166
Prenatal Bowing
Bowing of the long bones OMIM:264050
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Hypogona... OMIM:615994
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, Hypospadias, Short... OMIM:166250
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Postaxial ... OMIM:193530
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Clinodactyly of the 5th finger, Shoulder flexion contracture, Metacarpophalan... OMIM:619110
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial de... OMIM:102510
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... ORPHA:1826
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb ORPHA:2150
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Metacarpophala... OMIM:185800
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol... ORPHA:3121
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Abnormality of the calcaneus, Hypoplasia o... ORPHA:40366
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Pseudohypoparathyroidism Type 1C
Short metacarpal, Irritability, Decreased response to growth hormone stimulation test, Short 4th ... ORPHA:79444
Larsen Syndrome
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Sp... OMIM:150250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... ORPHA:2370
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Metatarsus ... OMIM:616266
Trichorhinophalangeal Syndrome Type 1
Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, Camptodactyly of finger, Micr... ORPHA:77258
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short ribs, Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Hori... OMIM:617405
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... OMIM:105835
Acrodysplasia Scoliosis
Spina bifida occulta, Brachydactyly ORPHA:2956
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Absent trapezium, Cone-shaped epiphyses of the middle phalanges of the hand, Absent scaphoid, Dis... OMIM:606895
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Metaphyseal dysplasia, Short middle ph... OMIM:156510
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size, Broad foot, Shor... ORPHA:3085
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Short metacarpal, Camp... OMIM:612350
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Sillence Syndrome
Short finger, Chess-pawn distal phalanges, Pes cavus, Large tarsal bones, Intervertebral disk deg... ORPHA:3168
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Micrognathia, Broad... OMIM:613684
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Synostosis... ORPHA:90650
Carpenter Syndrome
Polydactyly, External genital hypoplasia, Genu valgum, Finger syndactyly, Postaxial hand polydact... ORPHA:65759
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Short middle phalanx of finger, Brachydactyly, Cryptorchidism, Micrope... OMIM:612626
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Camptodactyly of finger, Aplasia/Hypoplasia of the di... ORPHA:1113
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Anauxetic Dysplasia 3
Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, Wide anterior ... OMIM:618853
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Triphalangeal thumb, Absent middle phalanx of 5th finger, Bilateral triphalangeal thumbs, Brachyd... OMIM:124480
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Short ribs, Flat acetabular roof, Long cocc... OMIM:156530
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, E... ORPHA:56304
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Pes planus, Calcaneovalgus deformity OMIM:225320
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Cohen Syndrome
Decreased response to growth hormone stimulation test, Genu valgum, Cubitus valgus, Short metatar... OMIM:216550
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility, Rod-cone dystrophy OMIM:300719
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... ORPHA:319675
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypoparathyroidism, Abnormal circulat... ORPHA:93325
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Abnormality of the medullary cavity of the long b... OMIM:127000
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Ta... ORPHA:1836
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Cryptorchidism, Short foot, Small hand ORPHA:261483
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Multiple joint dislocation, Genu valgum, Hip subluxation, Flat capital femoral epiphysis, Metaphy... ORPHA:93360
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyl... ORPHA:2928
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe OMIM:600430
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Joint dislocation, Tapered finger, Camptodactyly of finger, Aplasia/Hypopla... ORPHA:3201
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Short metacarpal, Irritability, Decreased response to growth hormon... ORPHA:79443
Spondyloepiphyseal Dysplasia, Nishimura Type
Elevated circulating parathyroid hormone level, Cone-shaped epiphyses of the phalanges of the han... OMIM:618618
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Tibial... ORPHA:251028
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Single interp... OMIM:611717
Sanjad-Sakati Syndrome
Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia... ORPHA:2323
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Abnormal female external genitalia morphology, Abnormal ovarian morphology, A... ORPHA:95699
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Short metacarpal, Pseudohypoparathy... OMIM:603233
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Decreased circulati... OMIM:241410
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Flattened humeral heads, Flat capital femoral epiphysis, Reduced proximal interphala... ORPHA:166011
Stickler Syndrome, Type Iv
Genu valgum, Flat capital femoral epiphysis, Hypoplastic iliac wing, Short metacarpal, Coxa vara,... OMIM:614134
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Short fourth metatarsal, Pseudohypoparathyroidism, Brachydactyly, Cryptorchi... ORPHA:464288
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl... OMIM:615777
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap ORPHA:217017
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Hypospadias, Y-shaped metatarsals, Metopic synostosis, Delayed cranial suture... OMIM:175700
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Chromosome 2P16.1-P15 Deletion Syndrome
Calcaneovalgus deformity, Camptodactyly, Decreased testicular size, Arachnodactyly, Metatarsus ad... OMIM:612513
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Wide anterior fontanel, Abnormal epiphysis morphology, Abnormali... ORPHA:3098
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly, S... OMIM:114150
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnese... ORPHA:2239
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl... ORPHA:3409
Three M Syndrome 3
Prominent calcaneus, Slender long bone, Clinodactyly of the 5th finger, Hip dysplasia OMIM:614205
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypospadias, Brachydactyly ORPHA:1919
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ... OMIM:300863
Trichorhinophalangeal Syndrome, Type I
Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the distal phalange... OMIM:190350
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Broad hallux, Short thumb, Brachydactyly, Prematur... OMIM:165800
Martsolf Syndrome 1
Talipes valgus, Slender ulna, Talipes equinovarus, Short metacarpal, Finger joint hypermobility, ... OMIM:212720
X-Linked Intellectual Disability, Hedera Type
Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of lower limbs, Pes planus, Hypore... ORPHA:93952
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Bowing of the long bones, Brachydactyly ORPHA:40
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Short femoral neck, Br... OMIM:146000
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Short 4th metacarpal, Hypospadias, Azoospermia, Urogeni... ORPHA:1772
Cri-Du-Chat Syndrome
Short metatarsal, Hypospadias, Single transverse palmar crease, High axial triradius, Short metac... OMIM:123450
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Equinovarus deformity, Triphalangeal thumb, Calcaneovalgus deformity, Congeni... ORPHA:3078
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Three M Syndrome 2
Slender long bone, Thin ribs, Scapular winging, Prominent calcaneus, Short 5th finger, Clinodactyly OMIM:612921
Keipert Syndrome
Broad distal phalanx of finger, Camptodactyly, Broad thumb, Broad hallux, Brachydactyly, Clinodac... OMIM:301026
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Roifman-Chitayat Syndrome
Arthritis, Cone-shaped epiphysis, Short metatarsal, Short metacarpal OMIM:613328
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormal foot morphology, Hammertoe, Joint dislocation, Sandal gap, Shoulder dislocation, Elbow d... ORPHA:536532
Chst3-Related Skeletal Dysplasia
Genu valgum, Cubitus valgus, Irregular epiphyses, Small epiphyses, Rhizomelia, Short metacarpal, ... ORPHA:263463
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Wilson-Turner Syndrome
Pes cavus, Tapered finger, Micrognathia, Hypogonadotropic hypogonadism, Pes planus, Cryptorchidis... ORPHA:3459
Craniosynostosis 3
Right unicoronal synostosis, Bicoronal synostosis, Single transverse palmar crease, Brachydactyly... OMIM:615314
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li... ORPHA:321
Smith-Mccort Dysplasia 1
Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Short metacarpal, Iliac crest serration... OMIM:607326
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... OMIM:203330
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy, Bifid scrotum ORPHA:1547
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Split hand, Weakness of t... ORPHA:324442
Mesomelia-Synostoses Syndrome
Abnormality of the hand, Abnormality of the wrist, Genu valgum, Abnormal femur morphology, Abnorm... ORPHA:2496
Roifman Syndrome
Clinodactyly of the 5th finger, Single transverse palmar crease, Short metacarpal, Hip contractur... OMIM:616651
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Short metacarpa... OMIM:616723
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Carpal bone hypoplasia, Abnormal foot morphology, Cone-shaped epiph... OMIM:184252
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Sho... OMIM:186500
X-Linked Intellectual Disability, Miles-Carpenter Type
Rocker bottom foot, Hypogonadism ORPHA:85283
Jeune Syndrome
Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog... ORPHA:474
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Rudiger Syndrome
Single transverse palmar crease, High axial triradius, Bicornuate uterus, Ovarian cyst, Short dig... OMIM:268650
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Genu recurvatum, ... ORPHA:2900
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... OMIM:610017
Abruzzo-Erickson Syndrome
Hypospadias, Short toe, Brachydactyly, Radioulnar synostosis, Ulnar deviation of finger, Toe synd... ORPHA:921
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short thumb, Short metacarpal, Abnormal metacarpal morphology, Duplication of the distal phalanx ... ORPHA:973
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Wormian bones, Pes planus, Short 5... OMIM:619638
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypoplasia of the capital femoral... OMIM:215150
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Short metacarpal, Coxa vara,... OMIM:609162
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy, Cataract, Micropenis, Aggressive behavior ORPHA:75858
Arthrogryposis, Distal, Type 3
Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, Congenita... OMIM:114300
Variegate Porphyria, Childhood-Onset
Short finger, Short metacarpal OMIM:620483
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:1406
Marinesco-Sjögren Syndrome
External genital hypoplasia, Abnormal metacarpal morphology, Abnormal finger morphology, Short pa... ORPHA:559
Potocki-Shaffer Syndrome
Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Brachydactyly, Wormian bones, M... OMIM:601224
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Short middle phalanx of the 5th finger, Short middle phalanx of finger, Hip d... ORPHA:63442
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... OMIM:300244
Pitt-Hopkins Syndrome
Narrow foot, Pes valgus, Supernumerary nipple, Single transverse palmar crease, Short fifth metat... OMIM:610954
Müllerian Aplasia And Hyperandrogenism
Cubitus valgus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly, Primary amen... ORPHA:247768
Aminopterin Syndrome Sine Aminopterin
Arachnodactyly, Rudimentary postaxial polydactyly of hands, Micrognathia, Syndactyly, Brachydacty... OMIM:600325
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... ORPHA:85167
Acrocephalopolydactyly
Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Abnormal metacarpal morphology, Sandal gap, Joint dislocation, Ab... ORPHA:3051
Van Maldergem Syndrome 2
Short 4th metacarpal, Hip subluxation, Hypospadias, Short clavicles, Wide anterior fontanel, Hypo... OMIM:615546
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... OMIM:250420
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly OMIM:618879
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Abnormality of the wrist,... ORPHA:2633
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli... OMIM:163400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Hip subluxation, Ivory epiphyses of the toes, Small epiphyse... OMIM:226980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia ORPHA:1858
Distal Deletion 10Q
2-3 toe cutaneous syndactyly, Pes valgus, Clinodactyly of the 5th finger, Short metatarsal, Sanda... ORPHA:96148
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Male pseu... ORPHA:1422
Larsen Syndrome
Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Broad thumb, Short d... ORPHA:503
C Syndrome
Clitoral hypertrophy, Radial deviation of finger, Dislocated radial head, Postaxial hand polydact... OMIM:211750
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Talonavicular Coalition
Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm... OMIM:186750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly, Horizontal ribs, Cryptorchidism OMIM:615633
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Cryptorchidism, Ankle clonus ORPHA:565624
Van Maldergem Syndrome 1
Short 4th metacarpal, Abnormal foot morphology, Hypospadias, Short clavicles, Wide anterior fonta... OMIM:601390
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Abnormal metacarpal morphology, Hypoplasia of penis, Bifid scrotum, Brachydactyly, S... ORPHA:1295
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu valgum, Sandal gap, Joint dislocation, Genu recurvatum, Recurrent shoulder dislocation, Abse... ORPHA:230851
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Tibial torsion, Finger... ORPHA:3320
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia... ORPHA:2491
Muenke Syndrome
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped mi... OMIM:602849
Linear Verrucous Nevus Syndrome
Genu recurvatum, Toe syndactyly, Talipes, Short metacarpal ORPHA:2611
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Laurence-Moon Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Hand polydact... ORPHA:2377
Acrofacial Dysostosis, Catania Type
Hypospadias, Spina bifida occulta, Single transverse palmar crease, Short palm, Micrognathia, Bra... OMIM:101805
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Short metacarpal, Fl... OMIM:271665
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A... OMIM:208250
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... ORPHA:2511
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Metacarpal osteolysis, Pes cavus, Carpal osteolysis, Ulnar deviat... OMIM:166300
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus deformity, Camptodactyly, A... ORPHA:562528
Anauxetic Dysplasia 2
Cubitus valgus, Hypoplasia of the femoral head, Coxa vara, Hypoplastic iliac body, Metaphyseal dy... OMIM:617396
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Carpal bone hypoplasia, Hypoplasia of the radius,... OMIM:147750
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly OMIM:600092
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Camptodactyly, Micrognathia, Cryptorchidism OMIM:618393
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Increased bone miner... OMIM:239000
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Depression, Hypergonadotropic hyp... OMIM:614307
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Abnormal Hair, Joint Laxity, And Developmental Delay
Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle... OMIM:261990
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Dislocated radial hea... OMIM:618395
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Del... OMIM:304120
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Short foot, Camptodactyly, Narrow palm, Hypogonadism, Brachyd... OMIM:615547
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly OMIM:617169
Microcephaly 27, Primary, Autosomal Dominant
Short finger, Hip subluxation, Clinodactyly of the 5th finger, Metatarsus adductus, Cryptorchidis... OMIM:619180
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, External genital hypoplasia, Short foot, Narrow palm, Hypog... ORPHA:177910
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Polydipsia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis,... OMIM:617994
Intellectual Disability, Wolff Type
Clinodactyly of the 5th finger, Hypospadias, Broad thumb, Camptodactyly of finger, Large hands, M... ORPHA:3080
Alopecia-Intellectual Disability Syndrome
Split hand, Brachydactyly, Hypergonadotropic hypogonadism ORPHA:2850
Roifman Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Broad femoral head, I... ORPHA:353298
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Labial hypoplas... OMIM:620073
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Micrognathia, Brachyd... ORPHA:444002
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Genu valgum, Abnormal femur morphology, Irregular epiphyses, Abnormal femoral ... ORPHA:1822
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short long bone, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb undergrowth, Br... OMIM:618961
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,... OMIM:164745
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis, Brachydactyly ORPHA:2762
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Angioid streaks of the fundus, Conjunctival whitish sal... OMIM:211900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Short 5th metacarpal, Brachydactyly ORPHA:1264
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... ORPHA:957
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Hand clenching, Cryptorchidism, Micrognathia OMIM:618766
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Broad finger, Decreased response to growth hormone stimulation test, Azoospermia, Abnormal hand m... OMIM:300845
Bardet-Biedl Syndrome 9
Polydactyly, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Postaxial polyd... OMIM:615986
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Pes cavus, Hypospadias, Sandal gap, Decreased testicular size, Hypogonadism, Brachydactyly, Pes p... OMIM:300354
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cubitus valgus, Abnormality of the ovary, Hypogonadism ORPHA:1875
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Camptodactyly of finger, Midshaft hypospadias, Micrognathia, Brachydact... ORPHA:2863
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Autosomal Dominant Omodysplasia
Short 1st metacarpal, Rhizomelia, Hypoplasia of penis, Bifid scrotum, Cryptorchidism, Short palm,... ORPHA:93328
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly OMIM:613819
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Central diabetes insipidus, Depression, Peripheral axonal neuropa... ORPHA:411590
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal widening, Brachyda... ORPHA:440354
Synpolydactyly 2
Polydactyly, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Metatarsal synostosis, Car... OMIM:608180
Lowry-Wood Syndrome
Limited elbow extension, Multiple joint dislocation, Irregular epiphyses, Clinodactyly of the 5th... OMIM:226960
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Fused cervical vertebrae, Brachydactyly ORPHA:1436
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Elevated circulating creatine ... ORPHA:101082
Kyphomelic Dysplasia
Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing... OMIM:211350
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Craniosynostosis, Finger syndactyly, Cam... ORPHA:1520
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Cataract OMIM:620312
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Talipes equinovarus OMIM:616570
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Short long bone, Knee dislocation, Adducted thumb, Advanced ossification of carp... OMIM:620269
Multiple Synostoses Syndrome 4
Overlapping toe, Tarsal synostosis, Brachydactyly OMIM:617898
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, Short femur, ... OMIM:147891
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Coxa valga, Genu varum, Ext... OMIM:201000
Temtamy Syndrome
Clinodactyly of the 5th finger, Micrognathia, Short toe, Brachydactyly, Pes planus, Genu varum ORPHA:1777
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Precocious puberty, Hypog... ORPHA:3306
Scholte Syndrome
Acromicria, Patellar hypoplasia, Decreased testicular size, Micropenis, Short foot, Small hand OMIM:300977
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Aplasia/Hypoplasia of the vertebrae, Abnormal ilium morphology, Abn... ORPHA:168549
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh... ORPHA:1001
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Depression, Type II diabetes mellitus, Diabetes mellitus, Optic disc pallor OMIM:614296
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Clinodactyly of the 5th finger, Single transverse palmar crease, Short four... OMIM:618143
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Rhizomel... ORPHA:15
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Adducted thumb, Single transverse palmar crease, Brachydactyly, Hydrocele testis OMIM:620062
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Epiphyseal stippling, Short metacarpal, Short distal phalanx of finger... ORPHA:86822
Trichothiodystrophy 9, Nonphotosensitive
Brachydactyly OMIM:619692
Maternal Uniparental Disomy Of Chromosome X
Rocker bottom foot, Cubitus valgus, Azoospermia, Camptodactyly of finger, Ambiguous genitalia, Go... ORPHA:261519
Cornelia De Lange Syndrome 2
Limited elbow movement, Proximal placement of thumb, Short foot, Micrognathia, Brachydactyly, Cli... OMIM:300590
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Pes planus, Short metacarpal, Micrognathia, Brachydactyly, Metaphyseal chondrodysplasia, Craniosy... ORPHA:166035
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short long bone, Metaphyseal irregularity, Short 4th metacarpal, Rhizomelia, Join... OMIM:618019
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Mesomelia, Hypoplastic vertebral bodies, Tetraphoc... OMIM:215140
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Singl... OMIM:601358
Codas Syndrome
Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Delayed ossification of carpal bo... OMIM:600373
Opsismodysplasia
Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Flat acetabular roof, S... OMIM:258480
Ollier Disease
Abnormal metaphysis morphology, Micromelia, Precocious puberty, Abnormal cartilage morphology, Mu... ORPHA:296
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom... ORPHA:2741
Codas Syndrome
Abnormal pelvic girdle bone morphology, Short metacarpal, Congenital hip dislocation, Brachydacty... ORPHA:1458
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor... ORPHA:2410
Mccune-Albright Syndrome
Hepatocellular adenoma, Abnormal femur morphology, Cholestasis, Ovarian cyst, Hypophosphatemia, P... ORPHA:562
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Rh... ORPHA:1515
Steel Syndrome
Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Coxa ... OMIM:615155
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ... ORPHA:1263
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Microretrognathia, Short clavicles, Joint dislocation OMIM:606220
Laron Syndrome
Hypoplasia of penis, Micrognathia, Short toe, Osteoarthritis, Brachydactyly, Abnormality of the e... ORPHA:633
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia OMIM:618881
1Q21.1 Microduplication Syndrome
Hypospadias, Attention deficit hyperactivity disorder, Cataract, Cryptorchidism, Talipes equinovarus ORPHA:250994
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Metaphyseal striations, Slender long bones with narrow diaphyses, Sh... OMIM:608154
Calciphylaxis
Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossification ORPHA:280062
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Cupped... OMIM:271640
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Microphthalmia/Coloboma 10
Optic pit, Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Aromatase Deficiency
Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enl... ORPHA:91
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, C... OMIM:266920
Intellectual Developmental Disorder, Autosomal Dominant 59
Short palm, Short foot, Brachydactyly OMIM:618522
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Hyp... OMIM:210720
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the palmar creases, Thyroid hypoplasia, Calcaneovalgus deformity, Prominent metopi... ORPHA:521445
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Syndactyly, Rib fusion, Unilat... OMIM:173800
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplastic ilia, Congen... ORPHA:93333
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... OMIM:608940
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Flared metaphysis, Metaphyseal cuppin... OMIM:619073
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Short ribs, Micromelia, Micrognathia, Advanced tarsal ossification, Squared il... OMIM:215045
Mitochondrial Trifunctional Protein Deficiency
Equinovarus deformity, Pes cavus, Hypoparathyroidism, Equinus calcaneus, Decreased patellar reflex ORPHA:746
Rhombencephalosynapsis
Polydactyly, Finger syndactyly, Short phalanx of finger, Abnormality of the uterus, Microretrogna... ORPHA:59315
Pontocerebellar Hypoplasia, Type 12
Rocker bottom foot, Micrognathia, Overlapping fingers, Talipes equinovarus OMIM:618266
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormality of the hand, Abnormality of the wrist, Tarsal synosto... ORPHA:1657
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Tapered finger, Abnormal testis morphology, Brachydactyly ORPHA:317
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Limited elbow extension and supination, Short thumb, Brachydactyly, Crypt... ORPHA:401935
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ... OMIM:601198
Cleidocranial Dysplasia 2
Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification of carpal bon... OMIM:620099
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchh... OMIM:256050
Frontometaphyseal Dysplasia 2
Finger clinodactyly, Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated ra... OMIM:617137
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Areflexia of lower limbs, Hand clenching, Mi... OMIM:611890
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... OMIM:272460
Thanatophoric Dysplasia, Type Ii
Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions, Short ribs, ... OMIM:187601
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Clinodactyly of the 5th finger, Abnormal vertebral segmen... OMIM:244600
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology, Vaginal ... ORPHA:2119
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndac... OMIM:617895
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Hyperostosis, Heterochromia iridis, Splenomegaly, Catarac... ORPHA:2969
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm... ORPHA:2249
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Abnormal metatarsal morphology, Short long bone, Aplasia/Hypoplasia involving the... ORPHA:163654
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 4th metacarpal, Split hand, Tapered finger, Short 3rd metacar... OMIM:618569
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Hip subluxation, Bilateral camptodactyly, Prominent fingertip pads, Short fourth metatarsal, Over... OMIM:619557
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate calcifications, Micromelia, ... ORPHA:1426
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Small epiphyses, Short long bone, Hip contracture, Micrognathia, Flattened epiphysis... OMIM:618363
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Aarskog-Scott Syndrome
Radial deviation of finger, Broad foot, Hyperextensibility of the finger joints, Short 5th finger... OMIM:305400
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, R... ORPHA:79239
Lowry-Wood Syndrome
Irregular epiphyses, Dislocated radial head, Coxa vara, Epiphyseal dysplasia, Abnormality of reti... ORPHA:1824
Autosomal Dominant Hypocalcemia
Optic atrophy, Reduced bone mineral density, Emotional lability, Hypocalcemia, Depression, Hypoma... ORPHA:428
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Genu valgum, Flared femoral metaphysis, ... OMIM:184253
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl... OMIM:608328
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel... ORPHA:2347
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Pes cavus, Upper limb undergrowth, Short 3rd metacarpal, Short... OMIM:169400
Leber Congenital Amaurosis 1
Hepatomegaly, Eye poking, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal ... OMIM:204000
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os... OMIM:607095
Focal Dermal Hypoplasia
Midclavicular aplasia, Short ribs, Short metacarpal, Split foot, Midclavicular hypoplasia, Short ... OMIM:305600
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Craniosynostosis, ... OMIM:619451
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Bent Bone Dysplasia Syndrome 1
Clitoral hypertrophy, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Microgna... OMIM:614592
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Equinovarus deformity, Ankle flexion contracture, Elbow flexion contracture, ... ORPHA:1143
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Aplasia/Hypoplasia of the 3rd toe, Hypos... OMIM:107480
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Short foot, Precocious puberty, Micrognathia, Clinodactyly, Small hand ORPHA:254525
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Short finger, Hypospadias, 2-3 toe syndactyly, Tapered finger, Long fingers, Micrognathia, Broad ... OMIM:618659
Schneckenbecken Dysplasia
Snail-like ilia, Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Bi... OMIM:269250
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi... OMIM:143095
Wiedemann-Steiner Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short phalanx of finger, Long hallux, Short m... OMIM:605130
Woolly Hair Nevus
Precocious puberty, Persistent pupillary membrane, Heterochromia iridis, Brachydactyly ORPHA:79414
Trisomy 8P
Clinodactyly of the 5th toe, Annular pancreas, Clinodactyly of the 5th finger, Short 1st metacarp... ORPHA:264450
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Norrie Disease
Optic atrophy, Buphthalmos, Aggressive behavior, Retinal dysplasia, Retinal detachment, Corneal o... OMIM:310600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Rhizomelia, Broad long bone diaphyses, Acetabular spurs, Metaphyseal widening,... OMIM:614376
Acrofrontofacionasal Dysostosis
Hypospadias, Bifid scrotum, Micromelia, Broad thumb, Camptodactyly of finger, Short distal phalan... ORPHA:1784
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat... OMIM:614500
Pitt-Hopkins Syndrome
Narrow foot, Pes valgus, Finger clinodactyly, Supernumerary nipple, Short metatarsal, Single tran... ORPHA:2896
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Irregular epiphyses, Rhizomelia, Broad thumb, Mesomelia, Metaphyseal widening, Brac... OMIM:612813
Senior-Loken Syndrome
Premature ovarian insufficiency, Retinal dystrophy, Abnormality of bone mineral density, Abnormal... ORPHA:3156
Combined Oxidative Phosphorylation Deficiency 2
Brachydactyly, Patent ductus arteriosus OMIM:610498
Cystinosis
Rickets, Polydipsia, Delayed puberty, Hypokalemia, Corneal opacity, Portal hypertension, Nephroge... ORPHA:213
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Brachydactyly, ... ORPHA:2145
Refsum Disease, Classic
Pes cavus, Short fourth metatarsal OMIM:266500
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia ORPHA:2513
Genetic Recurrent Myoglobinuria
Hyperkalemia, Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase ... ORPHA:99845
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Weakness of the in... OMIM:160565
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short finger, Small epiphyses, Thin ribs, Flared iliac wing, Coxa vara, Metaphyseal cupping of me... OMIM:300232
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:235200
Congenital Disorder Of Glycosylation, Type Iic
Short foot, Brachydactyly OMIM:266265
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th... OMIM:142900
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Premature ovarian insufficiency, Pate... ORPHA:221008
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Cryptorchidism, Tapered finger ORPHA:3010
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Brachydactyly, Abnormal reti... ORPHA:1390
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Osteoarthritis, Hip osteoarthritis, Flattened metatarsal heads OMIM:271600
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d... ORPHA:363741
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Luscan-Lumish Syndrome
Polycystic ovaries, Advanced ossification of carpal bones, Long foot, Irregular menstruation OMIM:616831
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Spina bifida occulta, Finger syndactyly, Micrognathia, Small hand ORPHA:1787
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Short ribs, Short long bone, Split hand, Irregular carpal bones, Shallow ... OMIM:252600
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,... ORPHA:3138
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c... OMIM:263650
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Cocaine Embryofetopathy
Short distal phalanx of finger, Encephalocele ORPHA:1911
Lujan-Fryns Syndrome
Camptodactyly of finger, Micrognathia, Arachnodactyly, Brachydactyly, Macroorchidism ORPHA:776
Humero-Radial Synostosis
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Elbow ankylosis, El... ORPHA:3265
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Facial diplegia, Dysphagia, Hypogonadism, Cataract, T... OMIM:160900
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Joint dislocation, Clinodactyly... OMIM:618870
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Irritability, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Fib... OMIM:264700
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Gonadal dysgenesis, Broad thumb, Large hands, Brachyd... ORPHA:1770
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Micrognathia, Metaphyseal dysplasia, Brachydactyly, Metaphyseal chondrodysplasi... OMIM:250410
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Optic disc pallor, Hepatomegaly OMIM:613730
Microphthalmia With Limb Anomalies
Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Camptodactyly of 2nd-5th fingers, S... OMIM:206920
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ulnar radial head dislocation, Primary amenorrhea, Ambiguous genitalia, Sho... OMIM:264270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Short long bone, Short ribs, Flat acetabular roof, Bowing of the long b... OMIM:614091
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Rocker bottom foot, Bilateral single transverse palmar creases, Single transverse palmar crease, ... OMIM:133705
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Spina bifida occulta, Short toe, Sh... OMIM:617877
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormality of the elbow, Cryptorchidism, Brachydactyly ORPHA:2701
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Iris atrophy, Heterochromia iridis, Chori... ORPHA:263479
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Femoral bo... OMIM:207410
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short ribs, Femoral bowing, Short long bone, Acetabular spurs, Postaxial po... OMIM:615503
Rin2 Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Brachydactyly, Pes planus, Crypt... ORPHA:217335
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Pterygium, Finger syndactyly, Calcaneovalgus defo... OMIM:256520
Acrofacial Dysostosis, Catania Type
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypospadias, Spina bi... ORPHA:1786
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Patent ductus arteriosus, Short greater sciatic notch, Wide anter... ORPHA:1860
Sheldon-Hall Syndrome
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Micr... ORPHA:1147
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Epiphyseal stippling, Elevated circulating aspartate aminotransferase con... OMIM:614876
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal ... OMIM:601370
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Brachydactyly, Clinodacty... OMIM:148820
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Cran... ORPHA:508533
Nance-Horan Syndrome
Short metacarpal ORPHA:627
Alagille Syndrome
Hypoplasia of the ulna, Delayed puberty, Hepatomegaly, Clinodactyly of the 5th finger, Keratoconu... ORPHA:52
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal female external genitalia morphology, Abnormal metacarpal morphology, Vaginal fistula, F... ORPHA:1112
Sclerosteosis
Optic atrophy, Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hypero... ORPHA:3152
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Spastic Paraplegia 20, Autosomal Recessive
Pes cavus, Hammertoe, Short foot, Camptodactyly, Ulnar deviation of the hand, Brachydactyly, Ankl... OMIM:275900
Non-Distal Deletion 10Q
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Overlapping fingers, ... ORPHA:1581
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Scapular winging, Camptodactyly of finger, Short toe, Brachydactyly, Short distal... ORPHA:1327
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Epiphyseal stippling, Hydrocephalus, Myelomeningocele, Brachydactyly, Short distal... ORPHA:1914
Tonne-Kalscheuer Syndrome
Hypospadias, Decreased testicular size, Broad thumb, Micrognathia, Brachydactyly, Pes planus, Cry... OMIM:300978
Osteogenesis Imperfecta, Type Viii
Slender long bone, Femoral retroversion, Wide anterior fontanel, Thin ribs, Femoral bowing, Tibia... OMIM:610915
Holoprosencephaly-Craniosynostosis Syndrome
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Holoprosencephaly, Brachydac... ORPHA:2163
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... ORPHA:710
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydactyly, Toe synda... OMIM:258860
6Q25 Microdeletion Syndrome
Rocker bottom foot, External genital hypoplasia, Clinodactyly of the 5th finger, Camptodactyly of... ORPHA:251056
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wrist swelling, Metacarpal osteolysis, Abnormality of the wrist, Carpal osteolysis, Slender long ... ORPHA:2774
Weill-Marchesani Syndrome
Short thumb, Brachydactyly ORPHA:3449
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormal cart... ORPHA:93284
Frontonasal Dysplasia 1
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Campt... OMIM:136760
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Thin ribs, Short... OMIM:151210
Vitamin D-Dependent Rickets, Type 2A
Rickets, Irritability, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Fib... OMIM:277440
Refsum Disease
Pes cavus, Abnormal foot morphology, Hammertoe, Short metacarpal, Abnormal epiphysis morphology ORPHA:773
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Irritability, Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic... ORPHA:289157
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Leber Congenital Amaurosis 2
Eye poking, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels,... OMIM:204100
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short palm, Dysphagia, Cat... OMIM:618958
Chromosome 8Q21.11 Deletion Syndrome
Short metacarpal, Camptodactyly, Micrognathia, Syndactyly, Absent palmar crease, Cryptorchidism, ... OMIM:614230
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Decreased nerve conduction velocity, Premature pubarche, Sensory axo... ORPHA:457205
Baller-Gerold Syndrome
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... ORPHA:1225
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal... OMIM:240950
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle ORPHA:1412
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Elevated circulating hepatic transaminase concentration, Hyperuricemia, ... ORPHA:94093
Osteoglosphonic Dysplasia
Rhizomelia, Micrognathia, Brachydactyly, Craniosynostosis, Cryptorchidism ORPHA:2645
Cofs Syndrome
Optic atrophy, Camptodactyly of finger, Abnormality of retinal pigmentation, Hypogonadism, Cataract ORPHA:1466
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Talipes equinovarus, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic di... OMIM:616171
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Sh... OMIM:261540
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Amelia, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Warburg Micro Syndrome 1
Optic atrophy, External genital hypoplasia, Microcornea, Osteoporosis, Developmental cataract, Ov... OMIM:600118
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Equinovarus deformity, Short ribs, Short long bone, Bowing of the l... OMIM:224400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Vaginal hernia, Hypoplastic vertebral... ORPHA:2916
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Plantar pits, Palmar pits, Short distal phalanx of the thumb, ... OMIM:109400
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Hypogonadism, Epiphyseal stippling OMIM:302950
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Camptodactyly of finger, Microgn... ORPHA:2083
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Sensory axonal neuropathy, Dysphagia, Cataract ORPHA:329314
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Flexion contracture of toe, Flared metaphysis, Dislocated radial head, Slende... OMIM:610758
Perrault Syndrome 4
Premature ovarian insufficiency, Cubitus valgus, Hypoplasia of the ovary, Secondary amenorrhea, B... OMIM:615300
Cardiospondylocarpofacial Syndrome
Short palm, Synostosis of carpal bones, Brachydactyly ORPHA:3238
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ab... ORPHA:1788
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Splenomegaly, Abnormal metacarpophalangeal joint morpholo... ORPHA:465508
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, 2-3 toe syndactyly, Prominent fingertip pa... ORPHA:485405
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Joint dislocation, Single transverse palmar crease, ... OMIM:616145
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Pterygium, Osteolysis involving bones of the lower limbs, Arthritis, Arthropat... ORPHA:371428
Roberts Syndrome
Bilateral single transverse palmar creases, Clitoral hypertrophy, Radial deviation of finger, Mes... ORPHA:3103
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Wide anterior fontanel, Brachydactyly, Clinodactyly ORPHA:313781
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involving bones of... ORPHA:221016
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Delayed ossification of carpal bones,... ORPHA:93346
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Palmoplantar keratoderma, Arachnodactyly, Cone-shaped epiphysis, Brachydactyly ORPHA:2824
Fetal Akinesia Deformation Sequence 3
Rocker bottom foot, Micrognathia, Talipes, Overlapping fingers OMIM:618389
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Carpal synostosis, Abnormality of the ankle ORPHA:2010
Hall-Riggs Syndrome
Metaphyseal dysplasia, Brachydactyly OMIM:234250
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
15Q24 Microdeletion Syndrome
Abnormal thumb morphology, Decreased response to growth hormone stimulation test, Proximal placem... ORPHA:94065
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov... ORPHA:249
Hypophosphatemic Rickets, X-Linked Dominant
Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Femoral bowing, Tibial bowing, Abno... OMIM:307800
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Premature ovarian insufficiency, Depression, Peripheral axonal neuropathy, Amenorrhea OMIM:619425
Coffin-Lowry Syndrome
Broad finger, Abnormal diaphysis morphology, Narrow iliac wing, Short metacarpal, Large hands, Ps... ORPHA:192
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Fgfr2-Related Bent Bone Dysplasia
Clitoral hypertrophy, Metopic depression, Short clavicles, Abnormality of the lower limb, Steep a... ORPHA:313855
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Hypocalcemia, Bone cyst, Abnormal bone structure, Co... ORPHA:93160
Kid Syndrome
Delayed pubic bone ossification, Patellar hypoplasia, Arthritis, Equinus calcaneus, Knee flexion ... ORPHA:477
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Abnormal peritoneum morphology, Corneal ... ORPHA:1764
Opsismodysplasia
Abnormal metaphysis morphology, Hypoplastic pubic bone, Abnormal epiphysis morphology, Hypoplasti... ORPHA:2746
Atelosteogenesis Type I
Abnormal fibula morphology, Abnormal pancreatic duct morphology, Rhizomelia, Joint dislocation, S... ORPHA:1190
Riboflavin Transporter Deficiency
Diabetes insipidus, Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Facia... ORPHA:97229
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Tarsal synostosis, Abnormal metacarpal morphology, Glandular hypospadias, Finge... ORPHA:2473
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Coffin-Siris Syndrome 2
Short distal phalanx of finger, Brachydactyly, Cryptorchidism, Sandal gap OMIM:614607
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Clitoral hypertrophy, Enlarged labia minora, Fibular aplasia, Abnormal ... ORPHA:3404
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Pes valgus, Bilateral talipes equinovarus, Equinus calcaneus, 2-3 toe syndactyly ORPHA:522077
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Decreased fertility, Testicular atrophy, Dysp... OMIM:313200
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Marfan Syndrome
Limited elbow extension, Narrow foot, Pes cavus, Talipes, Hammertoe, Genu recurvatum, Camptodacty... OMIM:154700
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Abnormal ilium morphology, Patent ductus arteriosus, Abnormal sac... ORPHA:2655
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, Ab... OMIM:216340
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Broad thumb, Aplasi... ORPHA:2662
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Flared metaphysis, Metaphyseal cupping, Short ribs, Short metacarpal, Synostosis of j... ORPHA:50945
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid macular edema, ... OMIM:611040
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Genu recurvatum, Camptodactyly of... ORPHA:137834
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorc... ORPHA:1381
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Short long bone, ... OMIM:615630
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ... ORPHA:2307
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Limitation of knee mobility, Delayed pubic bone ossification, Delayed cal... OMIM:183900
Al-Raqad Syndrome
Brachydactyly, Sandal gap OMIM:616459
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap... ORPHA:251014
Norrie Disease
Delayed puberty, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Corneal opacity, Anterior ... ORPHA:649
Orofaciodigital Syndrome Ii
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Postaxial han... OMIM:252100
Phacoanaphylactic Uveitis
Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ... ORPHA:209959
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Clubbing, Recurrent patellar dislocation, Postaxial ... OMIM:619143
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Mandibular condyle hypoplasia, Increased size of the clitoris, Deformed h... ORPHA:2975
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Precocious pu... OMIM:619269
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rhizomelia, Coxa vara, Cone/cone-rod dystrophy, Reduced sperm motility, Splenomega... OMIM:602271
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Bifid scrotum, Ectrodactyly, Microphall... ORPHA:397590
Rubinstein-Taybi Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Broad thumb, Abnormal distal phalanx morpholog... ORPHA:783
Bardet-Biedl Syndrome 1
Radial deviation of finger, Postaxial hand polydactyly, Abnormality of the ovary, Decreased testi... OMIM:209900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Irritability, Depression, Emotional lability, Compulsive behaviors, Impulsivity, R... ORPHA:216873
14Q22Q23 Microdeletion Syndrome
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... ORPHA:264200
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... OMIM:236500
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Wide anterior fontanel, Short ribs... ORPHA:2021
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Albers-Schönberg Osteopetrosis
Optic atrophy, Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Joint... ORPHA:53
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Pseudoaminopterin Syndrome
Talipes valgus, Limited elbow movement, Hip subluxation, Clinodactyly of the 5th toe, Short 4th m... ORPHA:221120
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Premature ovarian ins... OMIM:230400
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cubitus valgus, Cholelithiasis, Talipes calcaneovarus, Decreased testicular size, Micrognathia, L... OMIM:300534
Martsolf Syndrome 2
Camptodactyly, Camptodactyly of finger, Developmental cataract, Cataract, Overlapping toe, Hypogo... OMIM:619420
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the wrists... OMIM:600081
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot OMIM:619072
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:619310
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal rib morphology, Rhizomelic arm shortening, Iliac crest serration, Shor... ORPHA:93317
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Clinodactyly of the 5th finger OMIM:618506
Oculomaxillofacial Dysostosis
Abnormality of the humerus, Camptodactyly of finger, Micrognathia, Brachydactyly, Adducted thumb ORPHA:1794
Alg6-Cdg
Shortening of all distal phalanges of the fingers, Retinal degeneration, Rod-cone dystrophy, Brac... ORPHA:79320
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal o... OMIM:241530
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Broad thumb, Mesomelia, Rhizomelia, Brachydactyly ORPHA:171866
Fountain Syndrome
Abnormal foot morphology, Abnormal metacarpal morphology, Spina bifida occulta, Coarse metaphysea... ORPHA:3219
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Wide anterior fontanel, Absent distal phalanges, 2-5 fin... OMIM:619339
Cach Syndrome
Optic atrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Irritability, Pancreatitis, N... ORPHA:135
Jansen-De Vries Syndrome
Short foot, Brachydactyly, Small hand OMIM:617450
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Hypothyroidism, Dysphagia, Limited mobility of proximal interp... OMIM:222300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Elevated circulating parathyroid hormone level, Craniofacial hyperostosis, Diaphys... OMIM:122860
Phenylketonuria
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d... OMIM:261600
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Abnormal carti... OMIM:156550
Adams-Oliver Syndrome 6
Foot oligodactyly, Syndactyly, Brachydactyly OMIM:616589
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Cubitus valgus, Talipes equi... OMIM:214110
Cleidocranial Dysplasia
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... ORPHA:1452
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Reduced bone mineral density, Macular edema, Macular exudate, Vitreous he... ORPHA:891
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Micrognathia, Small scrotum, Micropenis OMIM:610756
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Abnormal digit morphology, Aggressive beh... ORPHA:208441
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Second metatarsal posteriorly placed, Elbow flexion contracture, Camptodactyl... OMIM:214150
Trichorhinophalangeal Syndrome Type 2
Bilateral single transverse palmar creases, Genu valgum, Talipes, Joint dislocation, Cone-shaped ... ORPHA:502
Bardet-Biedl Syndrome 6
External genital hypoplasia, Hypospadias, Postaxial polydactyly, Syndactyly, Vaginal atresia OMIM:605231
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, Finger syndactyly, Broad thu... ORPHA:93258
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short... OMIM:181450
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Absent phalangeal crease, Antecubital pterygium, Fus... OMIM:618469
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Recurrent mandibular subluxations, Wide anterior fontanel, Short phalanx of finger, Micrognathia,... OMIM:225410
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Feingold Syndrome
Clinodactyly of the 5th finger, Deviation of the 2nd finger, Brachydactyly, Patent ductus arterio... ORPHA:1305
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Short middle phala... ORPHA:1005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Rocker bottom foot, Supernumerary nipple, Sandal gap, Bicoronal synostosis, Single transverse pal... OMIM:619951
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Camptodactyly, Broad thumb, Partial duplication of th... OMIM:616331
Achondroplasia
Limited elbow extension, Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysi... OMIM:100800
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Joint contracture of the hand, Flexion contracture of toe, Joint dislocation,... OMIM:193700
Shashi-Pena Syndrome
Short metacarpal, Deep palmar crease, Cervical C2/C3 vertebral fusion OMIM:617190
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Hypospadias, Sandal gap, Hitchhiker thumb, Single transvers... OMIM:612651
Koolen-De Vries Syndrome Due To A Point Mutation
Pes cavus, Decreased response to growth hormone stimulation test, Hypospadias, Joint dislocation,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pes cavus, Decreased response to growth hormone stimulation test, Hypospadias, Joint dislocation,... ORPHA:363958
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Hypospadias, Micrognathia, Absent thumb, Brachy... ORPHA:96097
Temtamy Syndrome
Short 2nd toe, Micrognathia, Brachydactyly, Pes planus, Talipes equinovarus, Hip dislocation OMIM:218340
Cree Mental Retardation Syndrome
Rocker bottom foot, Hypospadias, Bifid scrotum, Cutaneous finger syndactyly, Aplasia/Hypoplasia o... OMIM:606851
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Kury-Isidor Syndrome
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,... OMIM:619762
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Decreased fertility, Clinodactyly of the 5th finger, Abnormality of the hypothalam... ORPHA:1173
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Micrognathia, Brachydactyly, Craniosynostosis OMIM:618265
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Poland Syndrome
Aplasia of the pectoralis major muscle, Short ribs, Aplasia/Hypoplasia of the sternum, Cone-shape... ORPHA:2911
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of th... OMIM:608612
Saethre-Chotzen Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... ORPHA:794
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Single transverse palmar crease, Camptodactyly, Micrognathia, Brachydactyly, Clinodactyly OMIM:613604
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Hip... OMIM:210710
Joubert Syndrome 10
Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:300804
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Broad fem... OMIM:135100
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Wide anterior fontanel, Prominent fingertip pads, Camptodactyly, ... OMIM:300963
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Impotence, Diabetes mellitus, Cataract, Increased circulating ferritin c... OMIM:606069
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Hypospadias, Wide anterior fontanel, Short palm, Micrognathia, Synda... OMIM:217980
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal ORPHA:66518
Coffin-Siris Syndrome 6
Wormian bones, Micrognathia, Clinodactyly, Brachydactyly OMIM:617808
Limb-Mammary Syndrome
Hypoplastic nipples, Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint cont... OMIM:603543
Suleiman-El-Hattab Syndrome
Polydactyly, Single transverse palmar crease, Microretrognathia, Brachydactyly, Cryptorchidism, C... OMIM:618950
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Azoospermia, Hypoplasia of ... ORPHA:432
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepa... ORPHA:2088
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Delayed pubic bone ossification, Irregular epiphyses, Knee flexion contracture,... OMIM:618162
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Increased carrying angle, Brachydactyly OMIM:247410
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pituitary hypoth... OMIM:602152
Say Syndrome
Short distal phalanx of finger, Micrognathia, Tapered finger, Ulnar deviation of the 3rd finger OMIM:181180
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short lower limbs, Shor... ORPHA:420794
X-Linked Recessive Ocular Albinism
Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma... ORPHA:54
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Cubitus valgus, Short metatarsal, Short metacarpal, Pseudohypoparathyroidism, Brachydactyly, Shor... OMIM:617157
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Broad thumb, Vaginal hernia, Optic disc pallor ORPHA:3173
Diencephalic Syndrome
Optic atrophy, Abnormality of the hypothalamus-pituitary axis, Large hands, Long penis ORPHA:1672
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Rocker bottom foot, Bilateral single transverse palmar creases, Annular pancreas, Clinodactyly of... ORPHA:488642
Robinow Syndrome, Autosomal Dominant 3
Camptodactyly, Clitoral hypoplasia, Broad thumb, Short phalanx of finger, Micrognathia, Mesomelia... OMIM:616894
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Generali... ORPHA:99879
Muenke Syndrome
Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm, Cone-shaped epiphysis, Carpa... ORPHA:53271
Galactokinase Deficiency
Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in... ORPHA:79237
Genitopalatocardiac Syndrome
Hypospadias, Postaxial hand polydactyly, Male pseudohermaphroditism, Micrognathia, Brachydactyly,... ORPHA:2075
Achondrogenesis Type 2
Abnormal bone ossification, Abnormal vitreous humor morphology, Delayed pubic bone ossification, ... ORPHA:93296
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Brachydactyly, Abnormal metacarpal morphology, Hydrocephalus ORPHA:93262
Diamond-Blackfan Anemia 21
Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Micrognathia, Short toe, Brac... OMIM:620072
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Crane-Heise Syndrome
Hypoplasia of penis, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short distal phalanx ... ORPHA:1512
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Single transverse palmar crease, Delayed os... OMIM:617425
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Astigmatism, Sandal gap, 3-4 toe syndactyly, Broad hallux, Ectopia pupillae, Brach... OMIM:618727
Cystinosis, Nephropathic
Recurrent corneal erosions, Polydipsia, Delayed puberty, Primary hypothyroidism, Retinopathy, Cor... OMIM:219800
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Patent ductus arteriosus, Brachydactyly, Micromelia ORPHA:93274
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy, Secondary amenorrhea, Primary amenorrhea OMIM:620314
Hypomagnesemia 3, Renal
Rickets, Polydipsia, Elevated circulating parathyroid hormone level, Astigmatism, Hypocalcemic se... OMIM:248250
Meckel Syndrome 12
Rocker bottom foot, Micrognathia, Antecubital pterygium, Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Craniosynostosis 2
Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Brachydacty... OMIM:604757
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Fraser-Like Syndrome
Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Lattice retinal degeneration, Rhegmatogenous retinal detach... ORPHA:485
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... OMIM:184460
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Fu... OMIM:607323
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Mydriasis, Hepatomegaly, Irritability, Flared... OMIM:259720
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Micromelia, Decreased calvarial ossification, Cataract, Ambiguous genitalia,... ORPHA:2772
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Gorlin Syndrome
Plantar pits, Palmar pits, Ovarian fibroma, Abnormal rib morphology, Rib fusion, Arachnodactyly, ... ORPHA:377
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Thin ribs, Brachydactyly, Micropenis OMIM:602361
Microphthalmia With Brain And Digit Anomalies
Proximal placement of thumb, Retinal dystrophy, Finger syndactyly, Microcornea, Abnormality of th... ORPHA:139471
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contracture of the 4th... OMIM:618914
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Acrofrontofacionasal Dysostosis 1
Acetabular dysplasia, Broad thumb, Short metacarpal, Short distal phalanx of finger OMIM:201180
Nance-Horan Syndrome
Broad finger, Short phalanx of finger OMIM:302350
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Frank-Ter Haar Syndrome
Flared metaphysis, Prominent coccyx, Wide anterior fontanel, Delayed cranial suture closure, Shor... OMIM:249420
Hall-Riggs Syndrome
Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology, Brachydactyly ORPHA:2107
Ellis-Van Creveld Syndrome
Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Hypoplastic iliac wing, Short ribs, Sh... OMIM:225500
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Prominent fingertip pads, Camptodactyly, Broad thumb, Micrognathia, Mesomelia, Broad ... OMIM:618529
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short finger, Broad finger, Hypospadias, Short clavicles, Anterior pituitary hypoplasia, Short fi... OMIM:619841
Dahlberg-Borer-Newcomer Syndrome
Short distal phalanx of finger, Hypoparathyroidism, Brachydactyly ORPHA:1563
Chitayat Syndrome
Hallux valgus, Brachydactyly OMIM:617180
Geleophysic Dysplasia 1
Short long bone, Wrist flexion contracture, Short foot, Irregular capital femoral epiphysis, Camp... 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
Toe syndactyly, Triangular tibia, Aplasia of the 3rd finger, Talar aplasia OMIM:619218
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Pes cavus, Streak ovary, Abnor... ORPHA:168563
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Campomelia, Cumming Type
Bowing of the long bones, Abnormal rib morphology, Micromelia, Brachydactyly, Clubbing of toes, P... ORPHA:1318
Myhre Syndrome
Epispadias, Abnormal metaphysis morphology, External genital hypoplasia, Hypospadias, Large iliac... ORPHA:2588
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Spinocerebellar Ataxia, Autosomal Recessive 20
Talipes equinovarus, Brachydactyly, Clinodactyly, Camptodactyly OMIM:616354
Infantile Systemic Hyalinosis
Micromelia, Camptodactyly of finger, Short palm, Brachydactyly, Polycystic ovaries ORPHA:2176
Mosaic Trisomy 1
Rocker bottom foot, Deviation of the 5th toe, Broad 2nd toe, Broad toe, Elbow flexion contracture... ORPHA:1692
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Arteriosclerosis, Severe Juvenile
Short phalanx of finger, Central retinal vessel vascular tortuosity, Central fundal arteriolar mi... OMIM:208060
4H Leukodystrophy
Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit... ORPHA:289494
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Hypergalactosemia, Cholestasis, Cataract ORPHA:570422
Bardet-Biedl Syndrome 20
Astigmatism, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholeste... OMIM:619471
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormal rib morphology, Sandal gap ORPHA:2180
Leber Congenital Amaurosis 4
Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti... OMIM:604393
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Contracture of the proximal interphalangeal joint of the 5... ORPHA:293967
Leber Congenital Amaurosis 8
Macular coloboma, Eye poking, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fu... OMIM:613835
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Floating-Harbor Syndrome
Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, Hypospadias,... OMIM:136140
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... ORPHA:453510
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Talipes calcaneovalgus, H... OMIM:265000
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Abnormal femoral epiphysis morphology, Brachydactyly ORPHA:3218
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Hypospadias, Osteolytic defects of the phalanges of the hand, Disloc... OMIM:102500
Specific Granule Deficiency 2
Brachydactyly, Sandal gap OMIM:617475
Neonatal Adrenoleukodystrophy
Optic atrophy, Bilateral single transverse palmar creases, Cataract, Primary adrenal insufficienc... ORPHA:44
Trisomy 8Q
Deep palmar crease, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Displacement of t... ORPHA:1752
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Micrognathia, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia OMIM:618381
Acrocraniofacial Dysostosis
Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Triphalangeal thumb, Spina bifid... ORPHA:949
Waardenburg Syndrome Type 3
Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal bones, Camptodact... ORPHA:896
Ovarian Dysgenesis 2
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:300510
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Hypospadias, Microcornea, 2-3 toe syndactyly, Precocious puberty, Sclerocornea, Ectop... OMIM:615877
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Hypospadias, Abnormal metacarpal morpho... ORPHA:90652
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Single transverse palm... OMIM:303600
Filippi Syndrome
Optic atrophy, Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 to... OMIM:272440
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n... OMIM:231550
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral brachydactyly, Aplasia/Hypoplasia involving bones of the skull, Supernumerary nipple, ... ORPHA:1521
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Hypophosphatemia OMIM:146350
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Astigmatism, Genu valgum, Depression, Adrenal medullary hypoplasia OMIM:248000
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Elevated circulating alanine aminotransferase concentra... OMIM:271245
Short Stature With Microcephaly And Distinctive Facies
Proximal placement of thumb, Syndactyly, Brachydactyly, Microretrognathia, Short distal phalanx o... OMIM:615789
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia, Finger aplasia, Anisocoria, Cataract, Abnormal pupil shape, Hypogonadotro... ORPHA:45358
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Finger syndactyly... ORPHA:3376
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Brachydactyly OMIM:614526
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hepatomegaly, Elevated circulating parathyroid hormone level, Primary hyp... OMIM:239200
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Elevated circulating hepatic transaminase concentration, Clinodactyly of the 5th finger... OMIM:608093
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Adams-Oliver Syndrome
Talipes, Abnormal metacarpal morphology, Finger syndactyly, Absent toe, Abnormality of the upper ... ORPHA:974
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Talipes equinovarus, Flared metaphysis, Dysplasia of the femoral head, Bowing of the long bones, ... OMIM:615349
Progeria-Short Stature-Pigmented Nevi Syndrome
Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Hypergonadotropic hypogon... ORPHA:2959
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Fused cervical vertebrae, Prominent metopic ridge OMIM:309620
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Abnormal sperm motility, Female infertility ORPHA:244
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Brachydactyly ORPHA:436245
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Seconda... ORPHA:755
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, Abnormal metaphysis morphology, External genital hypoplasia, Hypospadias, Abnormal me... ORPHA:2658
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ... ORPHA:989
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Astigmatism, Aggressive behavior, Myopic astigmatism, Retinal detachmen... OMIM:152950
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic acetabulae, Hypoplastic iliac wing... OMIM:620076
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
X-Linked Hypophosphatemia
Genu valgum, Enlargement of the costochondral junction, Abnormal lower-limb metaphysis morphology... ORPHA:89936
Dubowitz Syndrome
Abnormal female external genitalia morphology, Hypoparathyroidism, Hypospadias, Sandal gap, Aplas... ORPHA:235
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Short humerus, Short metacarpal, Brachydactyly ORPHA:508542
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Drumstick terminal phalanges, Brachydactyly OMIM:612938
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Acute hepatic failure ORPHA:423
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ... ORPHA:157215
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Aplasia of the epiglottis, Short clavicles, Short long bone, Short ribs, Postax... OMIM:617088
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Zellweger Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Clitoral hypertrophy, Jaundice, Hepatomegaly, H... ORPHA:912
Pycnodysostosis
Short finger, Decreased response to growth hormone stimulation test, Rhizomelia, Hypoplastic ilia... ORPHA:763
Stankiewicz-Isidor Syndrome
Hypospadias, Hyperactivity, 2-3 toe syndactyly, Abnormal optic disc morphology, Absent thumb, Sho... OMIM:617516
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Clinodactyly, Brachydactyly OMIM:614261
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Corneal... ORPHA:534
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Thyroid hypoplasia, Broad thumb, Small scrotum, Polydactyly ... ORPHA:672
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Depression, Primary hyperparathyroidism, Hypercalcemia, Hypophosph... OMIM:600740
Alexander Disease
Microcoria OMIM:203450
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Hyperalaninemia, Hypothyroidism, Hyperammonemia, Hypogonadism, Catar... ORPHA:254913
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Delayed puberty, Optic nerve hypoplasia, Peripheral axonal neuropathy, Corneal opa... ORPHA:496790
Nephronophthisis 11
Polydipsia, Retinal degeneration, Hepatic fibrosis, Anisocoria OMIM:613550
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Dysphagia, Hypophosphatemi... ORPHA:699
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Single trans... OMIM:610759
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Craniofrontonasal Syndrome
Breast hypoplasia, Axillary pterygium, Clinodactyly of the 5th finger, Hypospadias, Unilateral br... OMIM:304110
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis, Talipes equinovarus ORPHA:466794
Smith-Magenis Syndrome
Short palm, Abnormal forearm morphology, Brachydactyly, Broad palm, Pes planus OMIM:182290
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Abnormal female external genitalia morphology, Clinodactyly of th... ORPHA:2637
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Hypospadias, Microvesicular hepatic steatosis, Elevated circulating alanine aminot... OMIM:610198
Werner Syndrome
Rocker bottom foot, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Secondary amenorrhea, Abn... ORPHA:902
Premature Aging Syndrome, Penttinen Type
Slender long bone, Palmoplantar hyperkeratosis, Delayed cranial suture closure, Tibial bowing, Th... OMIM:601812
Distal Deletion 9P
Hypospadias, Brachydactyly, Hypoplastic labia majora ORPHA:1642
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Bowing of the long bones, Micromel... ORPHA:1798
Warburg Micro Syndrome 2
Optic atrophy, Clinodactyly of the 5th toe, Microcornea, Cataract, Clinodactyly of the 4th toe, D... OMIM:614225
Cone-Rod Dystrophy, X-Linked, 3
Astigmatism, Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Ab... OMIM:300476
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Cone-shaped epip... ORPHA:2484
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Hyperinsu... ORPHA:791
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Hypospadias, Bicoronal synostosis, Short long bone, Short palm, Brachydactyly OMIM:619184
Sponastrime Dysplasia
Short long bone, Mesomelia, Metaphyseal irregularity, Flattened humeral epiphyses, Hip dislocatio... ORPHA:93357
Pycnodysostosis
Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand... OMIM:265800
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Premature ovarian insufficiency, Decreased circulating progesterone, Emotional lab... OMIM:603896
Distal Deletion 6P
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Talipes equinovarus, Cornea... ORPHA:96125
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Camptodactyly, Micrognathia, Brachydactyly, Cryptorchidism OMIM:619123
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... OMIM:605432
Short-Rib Thoracic Dysplasia 12
Short finger, Short ribs, Hypoplastic nipples, Short long bone, Short palm, Broad foot, Short toe... OMIM:269860
Ablepharon-Macrostomia Syndrome
Clinodactyly of the 5th finger, Hypoplastic nipples, Short metacarpal, Camptodactyly, Cutaneous f... OMIM:200110
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Mesoaxial polydactyly, Bilateral cryptorchidism, Central Y-shaped metacarpa... ORPHA:2754
Floating-Harbor Syndrome
Hypospadias, 11 pairs of ribs, Dislocated radial head, Short clavicles, Short metacarpal, Precoci... ORPHA:2044
Fanconi Anemia, Complementation Group U
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... OMIM:617247
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration, Elevated circulating alanin... OMIM:300555
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal ... OMIM:156400
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormal forearm bone morphology, Splayed toes, Hypermobility of toe joints, Irregular proximal t... ORPHA:99413
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Genu valgum, Flared metaphysis, Delayed ep... OMIM:616007
Mosaic Monosomy X
Abnormal forearm bone morphology, Splayed toes, Hypermobility of toe joints, Irregular proximal t... ORPHA:99228
Monosomy X
Abnormal forearm bone morphology, Splayed toes, Hypermobility of toe joints, Irregular proximal t... ORPHA:99226
Turner Syndrome
Abnormal forearm bone morphology, Splayed toes, Hypermobility of toe joints, Irregular proximal t... ORPHA:881
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Triple A Syndrome
Optic atrophy, Anterior hypopituitarism, Abnormality of the hypothenar eminence, Adrenal insuffic... ORPHA:869
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... OMIM:273250
Ruijs-Aalfs Syndrome
Posterior subcapsular cataract, Single transverse palmar crease, Hepatocellular carcinoma, Elbow ... OMIM:616200
Mirage Syndrome
Rocker bottom foot, Radial club hand, Hypospadias, Microphallus, Decreased testicular size, Hyper... OMIM:617053
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Adducted thumb, Microretrognathia ORPHA:89844
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Hypospadias, Early ossification of capital femoral epiphyses, Aplasia/... ORPHA:397715
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Retinal dystrophy, Mic... ORPHA:899
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal rib morphology, Micromelia, Short palm, Micrognathia, Brachyda... ORPHA:3015
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Hypospadias, Narrow iliac wing, Hypoplastic frontal sinuses, Shor... OMIM:300712
Srd5A3-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Palmoplantar keratoderma, E... ORPHA:324737
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad thumb, Broad distal phalanx of finger, Brachydactyly OMIM:617763
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Small epiphyses... OMIM:271510
Corneodermatoosseous Syndrome
Abnormality of the hand, Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, ... ORPHA:3194
Orthostatic Hypotension 1
Brachydactyly, Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Breast hypoplasia, Finger clinodactyly, Camptodactyly, Brachydactyly, Small s... OMIM:601353
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Werner Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Osteoporosis, Elevated circulating alanine am... OMIM:277700
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, R... OMIM:614701
Duane Retraction Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Aniridia, Optic disc hypoplasia, Aplasia/Hypoplasi... ORPHA:233
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall... OMIM:609913
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hy... OMIM:612089
Mosaic Trisomy 9
Rocker bottom foot, Deep plantar creases, Hypoplastic female external genitalia, Finger clinodact... ORPHA:99776
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly OMIM:614800
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Deep palmar crease, Hypospadias, Talipes equinovarus, Metopic synostosis, Pos... OMIM:301056
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Refractory Celiac Disease
Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hypoproteinemia, Osteoporo... ORPHA:398063
Sandestig-Stefanova Syndrome
Rocker bottom foot, Bilateral single transverse palmar creases, Camptodactyly, Prominent metopic ... OMIM:618804
Hereditary Bullous Dystrophy, Macular Type
Short finger, External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, ... ORPHA:1867
Geleophysic Dysplasia 3
Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move... OMIM:617809
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Hypoplastic female external genitalia, Clinodactyly o... ORPHA:1507
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ribs, Short lon... OMIM:263520
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Knee flexion contracture, Labial hypoplasia, Inferio... OMIM:606170
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absen... ORPHA:69085
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Microretrognathia, Cryptorchidism, Brachydactyly ORPHA:457193
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ... OMIM:617061
Cutis Marmorata Telangiectatica Congenita
Reduced bone mineral density, Retinal detachment, Finger syndactyly, Abnormality of the upper lim... ORPHA:1556
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Trisomy 9P
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal pupil morpho... ORPHA:236
Intellectual Developmental Disorder, Autosomal Recessive 78
Brachydactyly, Cubitus valgus, Optic neuropathy, Clinodactyly of the 5th finger OMIM:620237
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Femoral bowi... OMIM:300009
Distal Deletion 17Q
Optic atrophy, Bilateral single transverse palmar creases, Abnormal thumb morphology, Hepatomegal... ORPHA:1597
Meckel Syndrome 14
Talipes, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the long bones, Postaxial p... OMIM:619879
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypocalcemia, Hypophosphatemia, Osteomalacia, Bowing of the legs ORPHA:89937
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Astigmatism, Hypospadias, Cryptorchidism, Chorioretinal coloboma, Dysphagia, Atten... ORPHA:494344
Macs Syndrome
Single transverse palmar crease, Hypergonadotropic hypogonadism, Micrognathia, Brachydactyly, Pes... OMIM:613075
Cinca Syndrome
Brachydactyly, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Joint dislo... ORPHA:1451
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Pes planus, Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion, ... OMIM:620494
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Temporal optic disc pallor, Scapular winging, Hypothyroidism, Dysphagia, Hypogonad... ORPHA:98673
Popliteal Pterygium Syndrome
Popliteal pterygium, Spina bifida occulta, Bifid scrotum, Cutaneous finger syndactyly, Intercrura... OMIM:119500
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Pes valgus, Brachydactyly, Ankle clonus OMIM:619995
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Spinal muscular atrophy, type I, with congenital bone fractures
Rocker bottom foot, Arachnodactyly, Congenital hip dislocation OMIM:271225
Distal Deletion 13Q
Optic atrophy, Abnormality of the hand, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the... ORPHA:1590
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:605911
Wagro Syndrome
Hypoplastic female external genitalia, Agitation, Aniridia, Emotional lability, Low frustration t... OMIM:612469
Coffin-Siris Syndrome 7
Sagittal craniosynostosis, Brachydactyly, Clinodactyly of the 5th finger OMIM:618027
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
Distal Monosomy 7Q36
Optic atrophy, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hypopl... ORPHA:1636
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypouricemia, Hyp... OMIM:616026
Smith-Magenis Syndrome
Clinodactyly of the 5th finger, Precocious puberty, Hand polydactyly, Micrognathia, Brachydactyly... ORPHA:819
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
3C Syndrome
Hypospadias, Abnormal hip bone morphology, Hypoplasia of penis, Finger syndactyly, Missing ribs, ... ORPHA:7
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Sensory axonal neuropathy, Depression, Fac... OMIM:157640
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Robinow Syndrome, Autosomal Dominant 1
Radial deviation of finger, Dislocated radial head, Short long bone, Broad thumb, Mesomelia, Clin... OMIM:180700
Aniridia-Absent Patella Syndrome
Cataract, Aplasia/Hypoplasia of the patella, Cryptorchidism, Aniridia ORPHA:1069
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Clitoral hypertrophy, Prolonged neonatal jaundice, Dysphagia, Hypospadias, Ul... OMIM:214100
Infantile Nephropathic Cystinosis
Rickets, Polydipsia, Abnormality of thyroid physiology, Hypokalemia, Corneal crystals, Hypophosph... ORPHA:411629
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Hypospadia... ORPHA:96182
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Agitation, Elevated circulating hepatic transaminase concentration, Hyperphosphatem... ORPHA:340
Fanconi-Bickel Syndrome
Rickets, Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid concentration, Hypokal... OMIM:227810
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal diaphysis morphology, Slender long bone, Clubbing of fingers, Triangular shaped distal p... ORPHA:73230
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Hypoplasia of penis, Decreased testicular size, Camptodactyly of toe, Short toe, H... ORPHA:127
Stt3B-Cdg
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract, Short foot, Sm... ORPHA:2714
Kleefstra Syndrome 1
Hypospadias, Single transverse palmar crease, Brachydactyly, Cryptorchidism, Micropenis, Talipes ... OMIM:610253
Warburg Micro Syndrome 3
Optic atrophy, Clinodactyly of the 5th finger, Small scrotum, Microcornea, Hypoplastic labia mino... OMIM:614222
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Test... ORPHA:99880
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Xq12-Q13.3 Duplication Syndrome
Agitation, 2-3 toe syndactyly, Elevated circulating creatine kinase concentration, Cutaneous fing... ORPHA:314389
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... OMIM:609049
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... OMIM:218600
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Lissencephaly 8
Optic atrophy, Talipes equinovarus, Elevated circulating creatine kinase concentration, Cataract OMIM:617255
Apert Syndrome
Limited elbow movement, Broad thumb, Syndactyly, Craniosynostosis, Postaxial hand polydactyly, Br... OMIM:101200
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Camptodactyly of fin... ORPHA:1323
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Hammertoe, Split hand, Anisocoria, Hand muscle weakness, Han... ORPHA:90658
Estrogen Resistance Syndrome
Breast hypoplasia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Primary amenorrh... ORPHA:785
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Decreased response to growth hormone stimulation test, Flexion contracture of... OMIM:602782
Oculodentodigital Dysplasia
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Madelun... ORPHA:2710
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
21Q22.11Q22.12 Microdeletion Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic nipples, Camptodactyly, Short pro... ORPHA:261323
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Facial palsy, Elevated circulating phytanic acid concentration, Cata... ORPHA:772
Trisomy 13
Optic atrophy, Bilateral single transverse palmar creases, Postaxial hand polydactyly, Ectrodacty... ORPHA:3378
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Arachnodactyly, Syndactyly, Adducted thumb, Septate vagina, Long toe, Hypospadias,... ORPHA:261537
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Joint contracture of the... OMIM:244300
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Papilledema, Ele... OMIM:620366
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Tibial bowing, A... ORPHA:352540
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Hypospadias, Spina bifida occulta, Flared metaphysis, Proximal sympha... OMIM:151050
Aredyld Syndrome
Abnormal pelvic girdle bone morphology, Brachydactyly ORPHA:1133
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Cholestasis, Splenomegaly, Optic nerve dysplasia, Optic atrophy, Jaundice, ... OMIM:614866
Zika Virus Disease
Wrist swelling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Con... ORPHA:448237
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Trisomy 20P
Abnormal foot morphology, Talipes, Hypospadias, Abnormal hip bone morphology, Finger syndactyly, ... ORPHA:261318
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Short palm, Brachydactyly ORPHA:3217
Warburg Micro Syndrome 4
Optic atrophy, Microcornea, Decreased testicular size, Developmental cataract, Small scrotum, Dec... OMIM:615663
Microphthalmia, Lenz Type
Clinodactyly of the 5th finger, Hypospadias, Finger syndactyly, Microcornea, Camptodactyly of fin... ORPHA:568
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Small pituitary gland, Bowed humerus, Short long bone, Short humerus, Trident pelvis... OMIM:619479
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Brachydactyly, Cl... ORPHA:1292
Acrocallosal Syndrome
Clinodactyly of the 5th finger, Hypospadias, Rectovaginal fistula, Finger syndactyly, Wide anteri... OMIM:200990
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Pe... OMIM:240300
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra... OMIM:101400
Ellis Van Creveld Syndrome
Epispadias, Capitate-hamate fusion, Genu valgum, Cubitus valgus, Hypospadias, Synostosis of carpa... ORPHA:289
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Abnormal pupil morphology ORPHA:2151
Lathosterolosis
Bilobate gallbladder, Ambiguous genitalia, male, 2-4 toe cutaneous syndactyly, Intrahepatic chole... OMIM:607330
Hereditary Fructose Intolerance
Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia... ORPHA:469
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Premature Ovarian Failure 18
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Elevated circulat... OMIM:619203
Mowat-Wilson Syndrome
Adducted thumb, Genu valgum, Pes planus, Hypospadias, Hallux valgus, Bifid scrotum, Calcaneovalgu... ORPHA:2152
Yunis-Varon Syndrome
Rocker bottom foot, Clitoral hypertrophy, Absent sternal ossification, Abnormal finger morphology... ORPHA:3472
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease... OMIM:311900
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Tibial torsion, 2-3 toe syndactyly, Anisocoria, Micropenis, Motor stereotypy, Overlapping toe, Cr... OMIM:618653
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Microcornea, 4-5 finger syndactyly... OMIM:257850
Radio-Tartaglia Syndrome
Pes cavus, Precocious puberty, Micrognathia, Brachydactyly, Pes planus, Tapered finger OMIM:619312
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Camptodacty... OMIM:178110
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Facial palsy, Splenom... OMIM:611490
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Finger syndactyly, Phimosis, Abnormal rib morphology, Camptodactyly of fing... ORPHA:2908
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Abnormally ossified vertebrae, Septo-optic dysplasia, Vaginal atresia... ORPHA:3301
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Glandular hypospadias, Micrognathia, Brachydactyly, Ulnar... ORPHA:1358
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Micrognathia, 2-4 toe syndacty... OMIM:614099
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon... ORPHA:90796
Monosomy 18P
Micrognathia, Brachydactyly ORPHA:1598
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of tibia, Metaphyseal enchondroma... ORPHA:99646
Robinow Syndrome
Fused thoracic vertebrae, External genital hypoplasia, Mesomelic arm shortening, Missing ribs, Cl... ORPHA:97360
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Micrognathia, Camptodactyly OMIM:604273
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195
Wieacker-Wolff Syndrome, Female-Restricted
Rocker bottom foot, Radial deviation of the hand, Hip contracture, Achilles tendon contracture, M... OMIM:301041
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the hand, Abnormality of the wrist, Abnormal shoulder morphology, ... ORPHA:85408
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Delayed ossification of carpal bones, Short toe, Tapered finger OMIM:239300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612287
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Coxa valga, Hip dislocation, Hypospadias, Clitoral hypoplasia, Micromelia, S... ORPHA:3107
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh... ORPHA:2886
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal fistula, Postaxi... OMIM:236700
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Decreased response to growth hormone stimulation test, Hypospadias, Congenita... ORPHA:363528
Pituitary Apoplexy
Mydriasis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Red... ORPHA:95613
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Polycoria, Aniridia, Hypospadias, Microcor... OMIM:180500
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Genu valgum, Hypophosphatemia OMIM:618913
Trichorhinophalangeal Syndrome, Type Ii
Hydrometrocolpos, Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the p... OMIM:150230
Woods Syndrome
Optic atrophy, Limited elbow extension, Single transverse palmar crease, 3-4 finger cutaneous syn... OMIM:615236
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Clinodactyly of the 5th finger, Hypospadias, Chordee, Short thumb, Brachydactyly, Cryptorchidism,... ORPHA:477993
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemia, Osteomalacia OMIM:613388
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Short lower limbs, Bowing of the legs, Leukocoria OMIM:219250
Developmental And Epileptic Encephalopathy 29
Rocker bottom foot, Hip dislocation OMIM:616339
Frontorhiny
Hypoplastic frontal sinuses, Camptodactyly of finger, Brachydactyly, Hypopituitarism, Finger clin... ORPHA:391474
Autosomal Recessive Faciodigitogenital Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Micrognathia, Brachydactyly, Shawl... ORPHA:1974
Trichinellosis
Irritability, Facial palsy, Abnormal optic nerve morphology, Anisocoria, Retinal hemorrhage, Conj... ORPHA:863
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Diabetes mellitus, Retinal degeneration, Cryptorchidism OMIM:249270
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ect... OMIM:610125
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:466650
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Camptodactyly, Brachydactyly, Patent ductus arteriosus, Clinodactyly, Talipes equinovarus ORPHA:397709
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, External genital hypoplasia, Clinodactyly ... ORPHA:177907
Alpha-Mannosidosis, Adult Form
Osteopenia, Depression, Corneal opacity, Hepatosplenomegaly, Cataract, Optic disc pallor ORPHA:309288
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Flared meta... OMIM:259700
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Short distal phalanx of finger, Small scrotum, Increased density of long bones, Br... OMIM:269150
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis OMIM:612286
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Alg8-Cdg
Talipes equinovarus, Brachydactyly, Camptodactyly ORPHA:79325
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Abnormality of the wrist, Genu valgum, Delayed cranial... ORPHA:198
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Optic atrophy, Small scrotum, Fundus atrophy, Short distal phalanx of finger, Cryptorchidism ORPHA:1970
Knobloch Syndrome 1
Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre... OMIM:267750
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Biliary tract abnormality, Ectopia pupillae, Hypospadias, Accessory spleen... OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Arachnodactyly, Syndactyly, Adducted thumb, Septate vagina, Long toe, Hypospadias,... ORPHA:261552
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Hepatomegaly, Facial palsy, Splenomegaly OMIM:615085
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Clitoral hypertrophy, Femoral bowing, Bifid scrotum, Arachnodactyly, Ovarian ... OMIM:201750
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Hyperuricemia, Bowing of the long bones, Osteoporosis, Abnor... ORPHA:2801
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... 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
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Spastic Paraplegia 9A, Autosomal Dominant
Pes cavus, Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology OMIM:601162
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Rocker bottom foot, Pes planus, Micrognathia, Tapered finger OMIM:620070
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly OMIM:616028
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly, Broad palm, Broa... OMIM:277600
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Micro Syndrome
Optic atrophy, Delayed puberty, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Retin... ORPHA:2510
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... 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
Tapered finger, Brachydactyly OMIM:619680
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Talipes equinovarus, Single transverse palmar crease, Elevated circulat... OMIM:619743
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Broad thumb, Abnormality of retinal pigmentation, S... ORPHA:585
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Arachnodactyly, Abnormality of retinal pigmentation, Cataract, L... ORPHA:171844
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Transketolase Deficiency
Hepatomegaly, Secondary amenorrhea, Elevated circulating ribitol concentration, Compulsive behavi... ORPHA:488618
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Accessory spleen, Microcornea, Postaxial hand p... ORPHA:564
Toriello-Lacassie-Droste Syndrome
Epispadias, Hypospadias, Short palm, Brachydactyly, Abnormal penis morphology ORPHA:3339
Orofaciodigital Syndrome Xix
Postaxial hand polydactyly, Type A brachydactyly, Broad hallux, Toe syndactyly, Postaxial foot po... OMIM:620107
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Bilateral single transverse palm... ORPHA:2636
Myhre Syndrome
Short finger, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndactyly, Short long ... OMIM:139210
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Elevated circulating creatin... ORPHA:1652
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Motor axonal neuropathy, Type II diabetes mellitus, Abnormal circulating phytanic acid... ORPHA:247815
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Hypophosphatemia, Hypokalemia OMIM:134600
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, C... ORPHA:294
Juvenile Glaucoma
Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Re... ORPHA:98977
Aicardi-Goutieres Syndrome 9
Optic atrophy, Irritability, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:619487
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Brachydactyly OMIM:620156
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Single transverse palmar crease, Bifid scrotum, Abnormal testis ... ORPHA:199310
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Brachydactyly OMIM:608624
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Hypoplasia of penis, Male pseudohermaphroditism, Abnormality of t... ORPHA:847
You-Hoover-Fong Syndrome
Clinodactyly, Brachydactyly OMIM:616954
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad distal phalanges of all fingers... OMIM:218330
Carpenter Syndrome 2
Broad thumb, Craniosynostosis, Camptodactyly, Micropenis, Preaxial polydactyly, Clinodactyly of t... OMIM:614976
Filippi Syndrome
Optic atrophy, Clinodactyly of the 5th toe, Bilateral single transverse palmar creases, Clinodact... ORPHA:3255
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Testicular atrophy OMIM:613987
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Dysphagia, Anisocoria ORPHA:289483
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Male infertility, Female external genitalia in individua... ORPHA:90793
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Micr... ORPHA:66634
Angelman Syndrome
Optic atrophy, Astigmatism, Precocious puberty in females, Tongue thrusting, Hyperactivity, Kerat... ORPHA:72
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly,... ORPHA:2750
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Cryptorchidism, Talipes equinovarus, Hypergonadotropic hypogonadism ORPHA:250999
Mucolipidosis Ii Alpha/Beta
Carpal bone hypoplasia, Hip subluxation, Talipes equinovarus, Short long bone, Flat acetabular ro... OMIM:252500
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Hammertoe, Abnormal optic nerve morphology, Anisocoria, Facial paralysis, Decrease... ORPHA:99949
Orofaciodigital Syndrome I
Polydactyly, Radial deviation of finger, Short 2nd toe, Ovarian cyst, Syndactyly, Brachydactyly, ... OMIM:311200
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... OMIM:610442
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Hyponatremia, Corneal crysta... ORPHA:411634
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Pes planus, Hypospadias, Hyperextensibility of the finger joints, 2-3 toe syn... ORPHA:163979
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal circulating cholesterol concentration, Osteoporosis, Optic disc pallor, ... OMIM:213700
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Metaphyseal sclerosis, Clubbing of fingers, Abnormality of th... ORPHA:2905
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Optic ... ORPHA:667
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Aplasia of the vagina, Aplasia of the uterus, Prominent metopic r... ORPHA:457284
Congenital Sialidosis Type 2
Optic atrophy, Polydactyly, Hepatomegaly, Yellow/white lesions of the retina, Corneal opacity, De... ORPHA:93400
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Pes cavus, Decreased response to growth hormone stimulation test, Hypospadias... OMIM:601808
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... ORPHA:314478
Miller Fisher Syndrome
Mydriasis, Facial palsy, Dysphagia, Anisocoria ORPHA:98919
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Broad toe, Short 2nd toe, Hip dysplasia OMIM:612582
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Secondary amen... ORPHA:572333
Fryns Syndrome
Rocker bottom foot, Hypospadias, Proximal placement of thumb, Single transverse palmar crease, Th... OMIM:229850
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Proximal placement of thumb, Hypoplasia of penis, Mesomelia, Talipes calcan... ORPHA:818
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Vertebral fusion, Hypoplasia of... ORPHA:3109
Jacobsen Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, Missing ribs, C... OMIM:147791
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Absent brai... ORPHA:90321
Kabuki Syndrome 2
Prominent fingertip pads, Micrognathia, Brachydactyly, Short 5th finger, Hip dislocation OMIM:300867
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Pes valgus, Limitation of knee mobility, 11 pairs of ribs, Hammertoe, Elbow f... OMIM:618947
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Cataract, Rod-cone dyst... OMIM:612674
Elsahy-Waters Syndrome
Penoscrotal hypospadias, Cervical C2/C3 vertebral fusion, Hypospadias, Bifid scrotum, Bilateral c... OMIM:211380
Adnp Syndrome
Polydactyly, Sandal gap, Single transverse palmar crease, Abnormal finger morphology, 2-3 toe syn... ORPHA:404448
Microphthalmia, Syndromic 6
Polydactyly, Abnormality of the hand, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger... OMIM:607932
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Corneal opacity, Hepatosplenomegaly, Cherry red spot of the macula, ... ORPHA:93399
Neu-Laxova Syndrome 2
Rocker bottom foot, Toe syndactyly, Micrognathia, Finger syndactyly OMIM:616038
Serotonin Syndrome
Mydriasis, Agitation, Irritability, Abnormality of the autonomic nervous system, Restlessness, He... ORPHA:43116
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Radial deviation of finger, Wrist flexion contracture, Short humerus, Absen... OMIM:268300
Chops Syndrome
Cryptorchidism, Cervical C2/C3 vertebral fusion, Brachydactyly OMIM:616368
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Decreased ... OMIM:259710
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Small pituitary gland, Band keratopathy, Optic disc pallor, H... OMIM:614195
15q26 overgrowth syndrome
Abnormal finger morphology, Camptodactyly of finger, Arachnodactyly, Micrognathia, Abnormal toe m... DECIPHER:81
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Upper limb undergrowth, Aplasia of the uterus, Unicornuate uterus, Short p... OMIM:614527
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Retinal arteriolar const... OMIM:600132
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Hyperostosis, Corneal dystrophy, Heterochromia iridis, Conjunc... ORPHA:3205
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of hallux, Pes cavus, Proximal placement of thumb, Sandal ... OMIM:613458
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Abnormal ovarian physiology, Premature pubarche, Precocious puberty in fema... ORPHA:90794
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Splenomegaly, Hypogonadism, Craniofacial osteoscleros... ORPHA:1328
Wolfram Syndrome 2
Optic atrophy, Diabetes insipidus, Depression, Optic neuropathy, Oligomenorrhea, Primary amenorrh... OMIM:604928
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Enlargement of the wrists... ORPHA:289176
Toriello-Carey Syndrome
Wide anterior fontanel, Micrognathia, Brachydactyly, Cryptorchidism, Clinodactyly ORPHA:3338
Congenital Disorder Of Glycosylation, Type Iib
Optic atrophy, Hypoplastic female external genitalia, Hepatomegaly, Hand clenching, Elevated circ... OMIM:606056
Cohen Syndrome
Optic atrophy, Delayed puberty, Iris coloboma, Cubitus valgus, Slender toe, Sandal gap, Clinodact... ORPHA:193
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Mydriasis, Diaphyseal dysplasia, Optic nerve compression, Optic neuropathy, Broad ... OMIM:619727
Bardet-Biedl Syndrome
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... ORPHA:110
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Op... OMIM:268315
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Witteveen-Kolk Syndrome
Radial deviation of finger, Proximal placement of thumb, Hyperactivity, Arachnodactyly, Overlappi... OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Persistent pupillary membrane, Elevated circulating creatine kinase concentration, Cataract, Buph... OMIM:613150
Infant Botulism
Anorexia, Mydriasis, Hyponatremia, Dysphagia, Keratoconjunctivitis sicca ORPHA:178478
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes eq... OMIM:309350
Specc1L-Related Hypertelorism Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Female pseudohermaphroditism, Short toe, Brach... ORPHA:1519
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Camptodactyly, Metatarsus ... OMIM:272950
Cerebrotendinous Xanthomatosis
Abnormal femur morphology, Abnormal finger morphology, Prolonged neonatal jaundice, Aggressive be... ORPHA:909
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Aymé-Gripp Syndrome
Rocker bottom foot, Breast hypoplasia, Clinodactyly of the 5th finger, Delayed cranial suture clo... ORPHA:1272
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, 2-3 toe syndactyly, Prominent metopic ridge, Coronal craniosynostosi... OMIM:614188
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
1Q21.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Depression, Attention deficit hyperactivity disorder, Broad thumb... ORPHA:250989
Scalp-Ear-Nipple Syndrome
Clinodactyly of the 5th finger, Breast aplasia, Finger syndactyly, 3-4 finger cutaneous syndactyl... OMIM:181270
Cloacal Exstrophy
Abnormal fibula morphology, Abnormal clitoris morphology, Abnormal tibia morphology, Abnormal fal... ORPHA:93929
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Short foot, Decreased testicular size, Fusion of mid... OMIM:157800
Intermediate Uveitis
Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V... ORPHA:279914
Barber-Say Syndrome
Clinodactyly of the 5th finger, Hypoplastic labia minora, Hypoplastic nipples, Absent nipple, Mic... OMIM:209885
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Tapered finger, Short foot, Camptodactyly, Micrognathia, Brachydactyly, Craniosynost... OMIM:309590
Hajdu-Cheney Syndrome
Hypospadias, Partial absence of toe, Absent frontal sinuses, Bowing of the long bones, Short dist... ORPHA:955
Spondyloocular Syndrome
Osteopenia, Femur fracture, Posterior subcapsular cataract, Retinal detachment, Unilateral crypto... OMIM:605822
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Elevated circul... OMIM:175780
Intellectual Developmental Disorder, Autosomal Dominant 57
Contracture of the proximal interphalangeal joint of the 4th finger, Brachydactyly, Absent fourth... OMIM:618050
White-Sutton Syndrome
Broad thumb, Micrognathia, Broad foot, Brachydactyly, Wormian bones, Hypoplastic cervical vertebrae OMIM:616364
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Hyperextensibility of the finger joints, Single transverse palmar crease, Pos... ORPHA:521426
Monosomy 9P
Bilateral single transverse palmar creases, Proximal placement of thumb, Hypospadias, Postaxial h... ORPHA:261112
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Br... ORPHA:364577
Amish Lethal Microcephaly
Optic atrophy, Irritability, Hepatomegaly, Decreased skull ossification, Osteoporosis ORPHA:99742
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Annular pancreas, Clinodactyly of the 5th finger, ... ORPHA:1606
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Cirrhosis, Hepatomegaly, Epiphyseal stippling, Hyperoxaluria, Hepatic fibrosis, Ro... OMIM:601539
Pallister-Killian Syndrome
Aplasia of the uterus, Small scrotum, Edema of the dorsum of feet, Hip dislocation, Aplasia of th... OMIM:601803
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Hypospadias, Wide anterior fontanel, Delayed cranial suture closure, Coronal c... ORPHA:85199
Noonan Syndrome
Clinodactyly of the 5th finger, Delayed menarche, Micrognathia, Brachydactyly, Radioulnar synosto... ORPHA:648
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low pla... OMIM:261680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplastic male ex... OMIM:236670
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Palmoplantar cutis gyrata, Bifid scrotum, Prominent scrotal raphe, Palmoplantar ke... ORPHA:1555
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Hyponatremia, Clitoral hypertrophy, Fused labia minora OMIM:608688
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Congenital Tufting Enteropathy
Cholestatic liver disease, Irritability, Corneal erosion, Punctate keratitis, Optic disc coloboma... ORPHA:92050
Iatrogenic Botulism
Mydriasis, Orthostatic hypotension, Dysphagia ORPHA:254509
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, G... ORPHA:394
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Anisocoria OMIM:300858
Acro-Renal-Ocular Syndrome
Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Cataract, Toe syndactyl... ORPHA:959
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Retinoblastoma
Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero... ORPHA:790
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Abnormal external genitalia, Aplasia of the uterus, Primary amenorrhea, Ap... OMIM:158330
Steinert Myotonic Dystrophy
Elevated circulating hepatic transaminase concentration, Facial diplegia, Impotence, Aggressive b... ORPHA:273
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opti... OMIM:615233
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Long foot, Clinodactyly of t... OMIM:280000
Smooth Muscle Dysfunction Syndrome
Mydriasis, Cryptorchidism, Retinal infarction OMIM:613834
Oeis Complex
Epispadias, Ambiguous genitalia, male, 11 pairs of ribs, Rectovaginal fistula, Vesicovaginal fist... OMIM:258040
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Hypogonadism, Cataract, Pigmentary retinopathy OMIM:610651
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli... OMIM:259775
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Osteoporosis, Oligomenorrhea, Pi... OMIM:219090
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Aplasia of the uterus, Bilateral talipes equinovarus, Micrognathia, Absent th... OMIM:614083
Alport Syndrome 3A, Autosomal Dominant
Lenticonus, Azotemia, Hypophosphatemia, Anterior polar cataract OMIM:104200
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pes cavus, Proportionate shortening of all digits, Flexion contracture of toe, Short foot, Deep l... ORPHA:280633
Meester-Loeys Syndrome
Broad distal phalanx of finger, Joint dislocation, Camptodactyly, Arachnodactyly, Brachydactyly, ... OMIM:300989
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, De... ORPHA:100924
Atypical Werner Syndrome
Rocker bottom foot, Premature ovarian insufficiency, Ovarian neoplasm, Osteolytic defects of the ... ORPHA:79474
Noonan Syndrome 1
Male infertility, Radial deviation of finger, Cubitus valgus, Hypospadias, Synovitis, Micrognathi... OMIM:163950
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Genu valgum, Radial deviation of finger, Hypospadias, Tapered finger, Slender finger, Decreased t... OMIM:309580
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Orthostatic hypotension, Dysphagia, Anisocoria OMIM:615510
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Metopic synostosis, Short ribs, Postaxial hand polydactyly, Bile duct pr... OMIM:613610
Arachnoid Cyst
Mydriasis, Irritability, Abnormality of the endocrine system, Depression, Facial palsy, Cranial n... ORPHA:2356
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Abnormality of the uter... ORPHA:201
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Retinal dystrophy, Joint contracture of the 5th finger, Flexion contracture of the... ORPHA:324540
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Slender long bone, Thin ribs, Ulnar deviation of the hand or of fingers of th... OMIM:208150
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hypospadias, Sandal gap, Hammertoe, Retinal detachment, Microcornea... OMIM:300166
Monosomy 13Q14
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia,... ORPHA:1587
Maternal Phenylketonuria
Micrognathia, Bifid distal phalanx of the thumb, Clinodactyly, Brachydactyly ORPHA:2209
Adams-Oliver Syndrome 1
Imperforate hymen, Brachydactyly, Toe syndactyly, Supernumerary nipple, Talipes equinovarus OMIM:100300
Joubert Syndrome 1
Retinal dystrophy, Retinal dysplasia, Hyperactivity, Postaxial hand polydactyly, Clinodactyly, Po... OMIM:213300
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Microgn... OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Development... OMIM:613154
Intestinal Botulism
Mydriasis, Dysphagia ORPHA:178481
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Sclerosteosis 1
Optic atrophy, Facial palsy, Deviation of finger, Papilledema, Cortically dense long tubular bone... OMIM:269500
Toxin-Mediated Infectious Botulism
Mydriasis, Dysphagia ORPHA:230800
Down Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Sandal gap, Brachydac... ORPHA:870
Crouzon Syndrome
Optic atrophy, Lambdoidal craniosynostosis, Coronal craniosynostosis, Keratitis, Conjunctivitis, ... OMIM:123500
Down Syndrome
Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Short middle phalanx of the ... OMIM:190685
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Clinodactyly of the 5th finger, Hypospadias, Clubbing of fingers, Elbow dislocation, ... OMIM:620083
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Reduced bone mineral density, Elevated circulating hepatic transamina... ORPHA:404454
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia, Spleno... OMIM:617913
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/Hypoplasia of th... ORPHA:3474
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Single transverse palmar crease, Elbow flexion contracture, Micrognathia... OMIM:619777
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Decreased liver function, Elevated circulating hepatic transaminase concentration,... OMIM:618329
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Thin ribs, Aplasia of the uterus, Absent external genitalia, Short ribs, M... OMIM:271520
Loeys-Dietz Syndrome
Joint dislocation, Camptodactyly of finger, Arachnodactyly, Micrognathia, Craniosynostosis, Pes p... ORPHA:60030
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Irregular menstruation, Abnorma... OMIM:216400
Arterial Tortuosity Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Coxa vara, Arachnodactyly, Hip dysplasia, Lon... ORPHA:3342
Mgat2-Cdg
Hypoplastic nipples, Brachydactyly ORPHA:79329
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatomegaly, Inappropriate antidiuretic hormone secr... ORPHA:79330
Facial Spasm
Anisocoria OMIM:134300
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Deviation of the hallux, Hammertoe, Sandal... OMIM:616268
Retinoblastoma
Retinoblastoma, Retinal calcification, Leukocoria, Vitreous hemorrhage, Pinealoma, Vitritis OMIM:180200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Hypospadias, Optic nerve hypoplasia, Sho... ORPHA:508498
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Single transver... OMIM:620185
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo... OMIM:233420
Charge Syndrome
Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Anterior hypopituitarism,... ORPHA:138
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Single transverse palmar crease, Prominent fingertip pads, Short palm, Brachydactyly, Pes planus,... ORPHA:466950
Hermansky-Pudlak Syndrome 8
Iris transillumination defect, Astigmatism, Myopic astigmatism, Menorrhagia, Hypoplasia of the fo... OMIM:614077
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
7Q11.23 Microduplication Syndrome
Astigmatism, Cubitus valgus, Hypospadias, Hyperactivity, Single transverse palmar crease, Polypha... ORPHA:96121
Peters Plus Syndrome
Clinodactyly of the 5th finger, Hypospadias, Anterior hypopituitarism, Rhizomelia, Spina bifida o... ORPHA:709
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Cervical ribs, Short 5th finger, Long toe, Ectopic posterior pituitary, Abnor... ORPHA:508488
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Short ribs, Flared iliac wing, Broad t... OMIM:312870
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Micrognathia, Syndactyly, Brachydactyly, Hip dysplasia OMIM:620654
Wound Botulism
Mydriasis, Dysphagia ORPHA:178475
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Osteopenia, External genital hypoplasia, Elevated circulating hepatic transaminase... OMIM:614231
Lesch-Nyhan Syndrome
Self-injurious behavior, Testicular atrophy, Dysphagia, Hyperuricemia OMIM:300322
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Dislocated radial head, Optic atrophy, Hypoplasia of the radius, Ast... OMIM:122470
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Upper limb undergrowth, Postax... OMIM:236680
Bickerstaff Brainstem Encephalitis
Mydriasis, Abnormal cranial nerve morphology, Facial palsy, Abnormality of the autonomic nervous ... ORPHA:79138
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Single transverse palmar ... OMIM:309801
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Peripheral schwannoma, Facial palsy, Abnormal ... ORPHA:637
Wolf-Hirschhorn Syndrome
Optic atrophy, Abnormality of the gallbladder, Hypospadias, Talipes equinovarus, Short hallux, Sp... ORPHA:280
Okur-Chung Neurodevelopmental Syndrome
Clinodactyly of the 5th finger, Single transverse palmar crease, Micrognathia, Broad hallux, Brac... OMIM:617062
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Hypospadias, Retinal detachment, Corneal opacity, Short foot, Flexion contracture of... ORPHA:464311
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Microcornea, Abnormal periphera... OMIM:133540
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Decreased response to growth hormone stimulation test, Fibular hypoplasia, Hypos... ORPHA:444077
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Hypocalcemic seizures, Optic nerve co... OMIM:612301
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Breast hypoplasia, Astigmatism, Clinodactyly of the 5th finger, Hypospadias, Acromes... ORPHA:464306
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Gallbladder dysfunction, Emotional lability, ... OMIM:250100
Glaucoma, Primary Closed-Angle
Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber OMIM:618880
Ayme-Gripp Syndrome
Delayed cranial suture closure, Camptodactyly, Brachydactyly, Radioulnar synostosis, Tapered finger OMIM:601088
Chromosome 1P36 Deletion Syndrome, Distal
Pes cavus, Bifid ribs, Clinodactyly of the 5th finger, Hypospadias, 11 pairs of ribs, Wide anteri... OMIM:607872
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 74
Polydactyly, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Renal And Mullerian Duct Hypoplasia
Micrognathia, Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Botulism
Mydriasis, Dysphagia ORPHA:1267
Dpagt1-Cdg
Optic atrophy, Emotional blunting, Astigmatism, Elevated circulating hepatic transaminase concent... ORPHA:86309
Mowat-Wilson Syndrome
Aganglionic megacolon, Hypospadias, Microcornea, Bifid scrotum, Abnormal enteric ganglion morphol... OMIM:235730
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Talipes equinovarus, Optic nerve hypoplasia, Short tibia, Remnants of the hy... OMIM:603671
Hereditary Cryohydrocytosis With Reduced Stomatin
Brachydactyly ORPHA:168577
Alternating Hemiplegia Of Childhood
Anorexia, Mydriasis, Oral-pharyngeal dysphagia, Emotional lability, Abnormal autonomic nervous sy... ORPHA:2131
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Single transverse palmar crease, Short palm, Brachydactyly, Pes planus, Pes valgus ORPHA:466943
Foodborne Botulism
Mydriasis, Dysphagia ORPHA:228371
Craniopharyngioma
Optic atrophy, Enlarged pituitary gland, Delayed puberty, Central diabetes insipidus, Pituitary h... ORPHA:54595
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Genu valgum, Retinal dystrophy, Azotemia, Hypoplasia of the ovary, Optic nerve hyp... OMIM:619321
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Microphthalmia, Syndromic 3
Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Optic nerve aplasia, Scleroco... OMIM:206900
Wolfram Syndrome
Optic atrophy, Polydipsia, Delayed puberty, Diabetes insipidus, Abnormal autonomic nervous system... ORPHA:3463
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased liver function, Decreased nerve conduction velocity, Hepatomegaly, Retin... OMIM:614863
Pulmonary Alveolar Microlithiasis
Clubbing of fingers, Testicular microlithiasis, Stippled calcification in carpal bones, Gonadal c... ORPHA:60025
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Spina bifida occul... OMIM:135900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Aplasia/Hypoplasia of... ORPHA:306542
Leber Congenital Amaurosis 15
Posterior subcapsular cataract, Eye poking, Pigmentary retinopathy, Attenuation of retinal blood ... OMIM:613843
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Cockayne Syndrome
Delayed puberty, Elevated circulating hepatic transaminase concentration, Retinal atrophy, Spleno... ORPHA:191
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidism, Chronic hepatitis, P... OMIM:269200
Alagille Syndrome 1
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Cholestasis, Prolo... OMIM:118450
Xeroderma Pigmentosum
Optic atrophy, Craniofacial hyperostosis, Pterygium, Conjunctival telangiectasia, Decreased testi... ORPHA:910
De Sanctis-Cacchione Syndrome
Optic atrophy, Axonal degeneration, Bilateral coxa valga, Bilateral cryptorchidism, Keratitis, Go... OMIM:278800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Clinodactyly of the 5th finger, Talipes, Single transverse palmar crease, Prominent fingertip pad... OMIM:612474
Craniolenticulosutural Dysplasia
Optic atrophy, Osteopenia, Punctate cataract, Posterior Y-sutural cataract, Cryptorchidism OMIM:607812
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Osteomalacia, Renal hypophos... ORPHA:405
Holoprosencephaly
Talipes, Anterior hypopituitarism, Hypoplasia of penis, Panhypopituitarism, Hand polydactyly, Bra... ORPHA:2162
Neuroocular Syndrome
Deep palmar crease, Clinodactyly of the 5th finger, Tibial torsion, Hyperextensibility of the fin... OMIM:619539
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Posterior uveitis, Anterior chamber cells, Retinal hemorrh... ORPHA:79098
Phace Association
Optic atrophy, Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Increas... OMIM:606519
Superficial Siderosis
Abnormality of the vestibulocochlear nerve, Abnormality of the brachial nerve plexus, Anisocoria ORPHA:247245
Revesz Syndrome
Exudative retinopathy, Megalocornea, Leukocoria 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
Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat... OMIM:308300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
External genital hypoplasia, Hypoplasia of penis, Hypogonadism, Cataract, Cryptorchidism, Iris co... ORPHA:2250
Pgm3-Cdg
Brachydactyly, Decreased/absent ankle reflexes ORPHA:443811
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hepatomegaly, Hyper... ORPHA:580
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Slender toe, Abnormality of the Leydig cells, Osteoporosis, Camptodactyly, Arachnoda... ORPHA:3063
Loeys-Dietz Syndrome 2
Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arachnodactyly, Protrusio acetabul... OMIM:610168
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Hypospadias, Pterygium, Phimosis, Osteoporosis, Decreased testicular si... OMIM:305000
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Limited elbow extension, Posterior subcapsular cataract, Abnormal thumb morphology... ORPHA:67036
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Aplasia/Hypoplasia of the thumb, Bicornuate uterus, Cutaneous ... OMIM:219000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad distal phalanx of finger, Abnormal fear-induced behavior, Hypospadias, Abnormal proximal ph... ORPHA:353281
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Retinal atrophy, Photoreceptor layer loss on macular OCT... OMIM:616959
Inhalational Botulism
Mydriasis ORPHA:254504
Scorpion Envenomation
Mydriasis, Increased circulating NT-proBNP concentration, Hypokalemia, Acute pancreatitis, Priapi... ORPHA:466677
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic endocrine tumor, Retinal detachment, Adrenal pheochromocytom... ORPHA:892
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ... ORPHA:71505
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Hypokalemia, Talipes equinovarus, Keratoconus, Uterine prolapse, Cy... ORPHA:286
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, 2-3 toe syndactyly, Aplasia of the uterus, Bifid scrotum, Unilateral cry... OMIM:618280
Menkes Disease
Abnormal metaphysis morphology, Tarsal synostosis, Bowing of the long bones, Micrognathia, Wormia... ORPHA:565
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Vitreous hemorrhage, Choroidal neovascularization, Iris nevus, Elevated circulating C-r... ORPHA:91500
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Talipes equinovarus, Cervical insufficiency, Met... OMIM:130050
Restrictive Dermopathy 1
Rocker bottom foot, Hypospadias, Short clavicles, Wide anterior fontanel, Osteolytic defects of t... OMIM:275210
Pagod Syndrome
Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uteru... ORPHA:991
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula ORPHA:309246
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Impulsivity, Broad thumb... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Broad distal phalanx of finger, Hyperactivity, Impulsivity, Broad thumb... ORPHA:353277
Craniorachischisis
Sirenomelia, Bifid sternum ORPHA:63260
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Hypoplasia of peni... ORPHA:93271
Hyperoxaluria, Primary, Type I
Optic atrophy, Choroidal neovascularization, Increased bone mineral density, Hyperoxaluria, Optic... OMIM:259900
Leptospirosis
Anorexia, Jaundice, Hepatomegaly, Optic neuritis, Chorioretinitis, Macular cotton wool spot, Reti... ORPHA:509
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Male sexual dysfunction, Absen... ORPHA:322
Townes-Brocks Syndrome 2
Bifid uterus, Spina bifida occulta, Hypospadias, Rectovaginal fistula OMIM:617466
Cocaine Intoxication
Mydriasis, Agitation, Mania, Elevated circulating creatine kinase concentration ORPHA:90068
Iniencephaly
Rocker bottom foot, Rhizomelia, Mandibular aplasia, Absent vertebra, Talipes equinovarus ORPHA:63259
Okamoto Syndrome
Polydactyly, Talipes, Prominent metopic ridge, Bifid uterus, Hip dysplasia ORPHA:2729
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Plague
Anorexia, Mydriasis, Hepatomegaly, Depression, Conjunctival hyperemia, Splenomegaly, Abnormality ... ORPHA:707
Ramon Syndrome
Enlarged labia minora, Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Fused cervical vertebrae, Abnormal calcification of the carp... ORPHA:51608
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Peritonitis OMIM:619351
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Holoprosencephaly 2
Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of the hyaloid vasc... OMIM:157170
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Encephalocraniocutaneous Lipomatosis
Retinopathy, Abnormal cartilage morphology, Osteochondrosis ORPHA:2396
Viss Syndrome
Rocker bottom foot, Genu valgum, Recurrent joint dislocation, Contracture of the proximal interph... 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 Bmpr1bem1(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
Bmpr1bem1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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