Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
porcupine O-acyltransferase
Synonyms:
DXHXS7465e,  2410004O13Rik,  mMg61,  porc,  Mporc

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Porcn mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Acrorenal Syndrome
Abnormal renal morphology, Hand oligodactyly OMIM:102520
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias, Brachydactyly, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydactyly, Rhizom... ORPHA:1453
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Renal agenesis, Camptodactyly of finger, Type B brachydactyly, Br... ORPHA:1471
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Delayed puberty OMIM:233270
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Partial duplication of the distal phalanx of the hallux, Abnormality of the urinary system, Broad... ORPHA:2669
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... OMIM:211369
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Type B brachydactyly, Bifid distal phalanx of the thumb, Broad distal phalanx of ... OMIM:120400
Bardet-Biedl Syndrome 5
External genital hypoplasia, Micropenis, Brachydactyly, Syndactyly, Polydactyly, Hypogonadism OMIM:615983
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
46,Xy Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Inguinal hernia, Bifid scrotum, M... ORPHA:325345
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, R... OMIM:615982
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Kyphosis, Brachydactyly, Scoliosis, Abnormal form of the vertebral b... ORPHA:40
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... OMIM:612847
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Coloboma OMIM:251505
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Symphalangism a... ORPHA:3237
Hypotrichosis 1
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... OMIM:605389
Hypochondroplasia
Lumbar hyperlordosis, Flared metaphysis, Brachydactyly, Genu varum, Limited elbow extension, Shor... OMIM:146000
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis ORPHA:2956
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of ... ORPHA:3104
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Type A1 brachyd... OMIM:113450
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Nephrotic syndrome, Ambiguous genitalia, mal... OMIM:194080
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... OMIM:618435
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Hydronephrosis, Split hand, Cutaneous ... OMIM:183802
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Polydactyly, Rod-c... OMIM:615990
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Micromelia, Brachydactyly, Gen... ORPHA:429
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Syndactyly, 2-4 toe syndactyly, Male hypogonadism OMIM:241000
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Type II diabetes mellitus, Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phala... ORPHA:1436
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Oligodactyly OMIM:614416
Camptobrachydactyly
Short toe, Brachydactyly, Syndactyly, Septate vagina, Congenital finger flexion contractures, Han... OMIM:114150
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Adrenal hypoplasia, Hydronephrosis, Hypogonadism,... ORPHA:85173
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ... ORPHA:189
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Septate vagina, Ulnar deviation of finger, Aplasia/Hypopl... ORPHA:1319
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Micropenis, Woolly scalp hair, Decreased t... OMIM:601217
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Tetrasomy X
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hip dysplasia, Premature ov... ORPHA:9
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly OMIM:172880
Liberfarb Syndrome
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Metap... OMIM:618889
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Banki Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... ORPHA:1228
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Bardet-Biedl Syndrome 18
Brachydactyly, Renal insufficiency OMIM:615995
Tibial Hemimelia
Radial club hand, Hemivertebrae, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Talipes equi... ORPHA:93322
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Brachydactyly, Type B1
Joint contracture of the hand, Micropenis, Hypoplastic sacrum, Hemivertebrae, Syndactyly, Type B ... OMIM:113000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cenani-Lenz Syndrome
Renal hypoplasia/aplasia, Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of ... ORPHA:3258
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Deviation of finger ORPHA:1450
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly, Scoliosis ORPHA:1937
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Distal foot symphalangism, Absent dorsal skin creas... OMIM:185700
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Short thumb, Toe syndactyly ORPHA:391646
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Upslanted palpebr... ORPHA:2935
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... ORPHA:1350
Hand-Foot-Genital Syndrome
Uterus didelphys, Short 1st metacarpal, Shortening of all middle phalanges of the fingers, Chorde... OMIM:140000
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... ORPHA:1275
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abnormal metacarpal mo... ORPHA:1307
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... ORPHA:370010
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, T... ORPHA:166011
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Macdermot-Winter Syndrome
Low anterior hairline, Frontal upsweep of hair, Camptodactyly of finger, Hydronephrosis, Hypoplas... OMIM:247990
Sillence Syndrome
Platyspondyly, Large tarsal bones, Back pain, Chess-pawn distal phalanges, Aplasia of the middle ... ORPHA:3168
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... OMIM:246570
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Cone-shaped epiphys... ORPHA:1240
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Achondroplasia
Bowing of the legs, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Trident hand, Flared metaph... OMIM:100800
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
2q37 monosomy
Brachydactyly DECIPHER:44
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies, ... ORPHA:2370
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Renal... OMIM:613390
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Diffuse palmoplantar hyperkeratosis, Sparse body hair, Onychogryposis of toenails, Dyst... OMIM:617294
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
15Q11Q13 Microduplication Syndrome
Downslanted palpebral fissures, Epicanthus, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Cooks Syndrome
Split hand, Triphalangeal thumb, Brachydactyly, Broad thumb ORPHA:1487
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, 2-3 toe cutaneous syndactyly, Hypoplastic toenails, Sparse scalp hair, Palmar hyperke... OMIM:613573
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Coloboma, Iris coloboma, Clinodactyly OMIM:610023
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Carpenter Syndrome
Kyphoscoliosis, Talipes equinovarus, External genital hypoplasia, Brachydactyly, Polydactyly, Syn... ORPHA:65759
Tetralogy Of Fallot
Cryptorchidism, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Vertebral wedging, Short distal phalanx of... ORPHA:93314
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Radioulnar synostosis, Epicanthus, Synophrys, Abno... ORPHA:3268
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Brachydactyly, Scoliosis, Cuboidal metacarpal, Elbow ... ORPHA:968
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Coloboma, Down... ORPHA:1617
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Sparse hair, Alopecia, Camptodactyly of finger, Onychogryposis of fingernail, ... ORPHA:2251
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Erythrokeratodermia Variabilis
Generalized hirsutism, Alopecia, Erythema, Brachydactyly, Dry skin, Tapered finger, Patchy palmop... ORPHA:317
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Abnormal retinal vascular mo... ORPHA:1390
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1795
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones OMIM:618392
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Oligodact... ORPHA:521308
Crandall Syndrome
Pili torti, Hypoplasia of penis, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of ... ORPHA:202
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Biconcave vertebra... OMIM:250215
Microphthalmia, Isolated 4
Postaxial polydactyly, Coloboma OMIM:613094
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Micropenis, Sparse axillary hair, Hypogonadotropic hypogonadism, Primary amenorrhea,... OMIM:146110
Eem Syndrome
Ectrodactyly, Abnormality of retinal pigmentation, Absent eyebrow, Retinopathy, Macular dystrophy... ORPHA:1897
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Retinal dysplasia, Coloboma ORPHA:324416
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Short 5th metacarpal, Short finger OMIM:604381
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Short neck, Hypoplasia of the femoral h... OMIM:617396
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Camptodactyly of finger, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, ... OMIM:212360
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Short humerus, Abnormality of the vertebral column, Enlarged kidney, Abnormal v... OMIM:314390
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Palpebral edema, Abnormality of retinal pigmentation, Ptosis ORPHA:1259
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Pseudopseudohypoparathyroidism
Short distal phalanx of the thumb, Short 5th finger, Brachydactyly, Short 4th metacarpal, Short d... ORPHA:79445
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteovalgus OMIM:614257
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Tapered finger, Short finger OMIM:302000
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Abnormal thumb mor... ORPHA:1927
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... OMIM:602418
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Brachydactyly Type E
Short distal phalanx of finger, Upper limb asymmetry, Type E brachydactyly, Aplasia/Hypoplasia of... ORPHA:93387
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Abnormal renal morphology, Male infertility, Absent vas deferens, Obstructive azoos... ORPHA:48
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Meckel Syndrome, Type 9
Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth, Ambiguous genitalia, Occipit... OMIM:614209
Jeune Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Brachydactyly, Nephropathy, Postaxial hand p... ORPHA:474
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Abruzzo-Erickson Syndrome
Short toe, Brachydactyly, Coloboma, Radioulnar synostosis, Epicanthus, Iris coloboma, Ulnar devia... ORPHA:921
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... OMIM:609441
Urban-Rogers-Meyer Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Camptodactyly of finger, Short nec... ORPHA:3409
Leri Pleonosteosis
Abnormality of finger, Abnormally straight spine, Camptodactyly of finger, Brachydactyly, Scolios... ORPHA:2900
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Platyspondyly, Micromelia, ... OMIM:184260
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short tibia, Single transverse palmar crease, Triphalangeal... OMIM:201170
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Camptodactyly Syndrome, Guadalajara, Type Ii
Labial hypoplasia, Talipes equinovarus, Camptodactyly of finger, Short neck, Brachydactyly, Slend... OMIM:211920
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis, Hypoplastic iliac wing, Hip d... ORPHA:1858
Meckel Syndrome
Urethral atresia, Encephalocele, Male pseudohermaphroditism, Multicystic kidney dysplasia, Anence... ORPHA:564
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... OMIM:617927
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma OMIM:602499
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Tarsal synostosis, Humer... OMIM:610017
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Pallister-Hall Syndrome
Decreased circulating cortisol level, Hemivertebrae, Y-shaped metacarpals, Distal shortening of l... OMIM:146510
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Oliver-Mcfarlane Syndrome
Sparse hair, Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Long eyelashes, Long e... OMIM:275400
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... OMIM:132400
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Abnormal shoulder morphology, Brachydactyly ORPHA:1277
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureterope... OMIM:143400
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, Long eyelashes, 2-4 finger syndactyly, 2-3 toe syndactyly OMIM:227210
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Thumb Deformity And Alopecia
Short thumb, Alopecia OMIM:188150
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Small hand, Brachydactyly, Ab... ORPHA:969
Moynahan Syndrome
Alopecia, Hyperkeratosis, Sparse hair, Hypogonadism ORPHA:2574
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydac... OMIM:193530
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short distal phalanx of the thumb, Brachydactyly, Short phalanx of hallux ORPHA:2150
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Hypoplasia of the radius, Oligodactyly, Rectovaginal fistula, Perineal fistula ORPHA:3016
Brachydactylous Dwarfism, Mseleni Type
Short toe, Osteoarthritis of the elbow, Platyspondyly, Brachytelomesophalangy, Abnormal femoral h... ORPHA:2619
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Renal hypoplasia/aplasia, Talipes equinovarus, Hand oligodactyly,... ORPHA:1788
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly ORPHA:2787
6P22 Microdeletion Syndrome
Short neck, Hydronephrosis, Clinodactyly, Finger syndactyly ORPHA:251046
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus, Coloboma ORPHA:141333
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy, Bifid scrotum ORPHA:1547
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, Camptodactyly, Split... OMIM:225280
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Urogenital sinus anomaly, Hypoplasia of penis, Ambiguous genitalia, male, Bifid scrotum, Ambiguou... ORPHA:753
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... ORPHA:2890
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... OMIM:300244
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Joubert Syndrome 16
Encephalocele, Polydactyly, Retinal dystrophy, Coloboma OMIM:614465
Acrocephalopolydactyly
Short neck, Brachydactyly, Abnormal renal morphology, Limb undergrowth, Short long bone ORPHA:221054
Orofaciodigital Syndrome Xv
Broad hallux, Hydronephrosis, Postaxial polydactyly OMIM:617127
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Brachydactyly, Triphalangeal thumb, Bilateral triphalangeal thumbs, Absent middle phalanx of 5th ... OMIM:124480
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Brachydactyly, Short metacarpal OMIM:113400
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst, Single transverse palmar crease, Ureterovesical sten... OMIM:268650
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
20Q11.2 Microdeletion Syndrome
Brachydactyly, Finger clinodactyly, Camptodactyly, Adducted thumb ORPHA:444051
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma, Coloboma OMIM:248390
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Nicolaides-Baraitser Syndrome
Abnormality of finger, Cryptorchidism, Sparse hair, Alopecia, Excessive wrinkled skin, Broad dist... ORPHA:3051
Chromosome 15Q26-Qter Deletion Syndrome
Talipes equinovarus, Micropenis, Hypospadias, Brachydactyly, Short middle phalanx of finger, Cryp... OMIM:612626
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Ptosis, Coloboma OMIM:120433
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Leber Congenital Amaurosis 9
Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, Attenuation of reti... OMIM:608553
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Cortisone Reductase Deficiency 1
Infertility, Hirsutism, Precocious puberty, Alopecia, Oligomenorrhea OMIM:604931
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Brachydactyly, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand p... ORPHA:1278
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism,... ORPHA:3085
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Brachydactyly, Bilateral single transverse palmar... ORPHA:2377
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis, Toe syndactyly ORPHA:251076
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Brachydactyly, Type E2
Short metatarsal, Brachydactyly, Short metacarpal OMIM:613382
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Hyperkeratosis, Abnormal toenai... ORPHA:494
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Metaphyseal widening, Brachydactyly,... OMIM:618961
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia... ORPHA:2850
Cousin Syndrome
Ambiguous genitalia, female, Rhizomelia, Absent proximal finger flexion creases, Clinodactyly of ... OMIM:260660
Ring Chromosome 14 Syndrome
Pigmentary retinopathy, Downslanted palpebral fissures, Epicanthus, Almond-shaped palpebral fissu... OMIM:616606
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Phenobarbital Embryopathy
Hypospadias, Brachydactyly, Aplasia/Hypoplasia of fingers ORPHA:1919
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Unilateral renal agenesis, Abnormality of the kidney, Hypoplasia o... ORPHA:3109
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Microcephaly-Cardiomyopathy Syndrome
Clinodactyly of the 5th finger, Sandal gap, Abnormality of retinal pigmentation ORPHA:2515
Frontonasal Dysplasia 1
Joint contracture of the hand, Brachydactyly, Coloboma, Postaxial hand polydactyly, Epicanthus, C... OMIM:136760
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone OMIM:615633
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Ruvalcaba Syndrome
Kyphosis, Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Micromelia, Synostos... ORPHA:3121
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Massively thickened long bone cortices, Brachydactyly, Micromelia, Limb undergrowth OMIM:122900
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar er... OMIM:104100
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Short neck, Abnormality of the humerus, Brachydactyly, ... ORPHA:3098
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abnormal pelvic gi... ORPHA:2928
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Joubert Syndrome 22
2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, Retinal dys... OMIM:615665
Bardet-Biedl Syndrome 3
Renal hypoplasia, Brachydactyly, External genital hypoplasia, Postaxial polydactyly OMIM:600151
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Telecanthus, Postaxial hand polyd... ORPHA:380
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Acetabular spurs, Trident acetabulum, Brachydactyly, Postaxial hand polydactyly, Postaxial foot p... OMIM:617405
Poland Syndrome
Unilateral oligodactyly, Hemivertebrae, Unilateral brachydactyly, Syndactyly, Hypoplasia of delto... OMIM:173800
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs... ORPHA:754
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga OMIM:132450
Dysmyelination With Jaundice
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis OMIM:224250
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Hammertoe, Pigmentary retinopathy OMIM:619090
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalange... OMIM:609638
Silver-Russell Syndrome 3
Hypospadias, Syndactyly, Finger clinodactyly, Ambiguous genitalia, Cryptorchidism OMIM:616489
Renal Agenesis
Talipes equinovarus, Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder... ORPHA:411709
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Small hand, Micromelia, Short phalanx of finger, Limited elbow extensio... OMIM:180870
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Short neck, Micro... OMIM:251230
Filippi Syndrome
Hypertrichosis, Sparse hair, Cutaneous syndactyly, Finger clinodactyly, Frontal hirsutism, Single... OMIM:272440
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Split hand, Short metatarsal, Type B brachydactyly, Aplasia/Hypoplasia of the distal phalanges of... OMIM:106990
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Arthrogryposis, Distal, Type 5
Decreased palmar creases, Abnormality of retinal pigmentation, Bilateral talipes equinovarus, Ara... OMIM:108145
Boomerang Dysplasia
Abnormality of femur morphology, Decreased response to growth hormone stimulation test, Abnormal ... ORPHA:1263
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Sparse eyebrow, Absent lacrimal punctum, Lipomas of eyelids, Uppe... OMIM:167730
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Ptosis ORPHA:2743
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy... ORPHA:897
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... OMIM:608571
Mal De Meleda
Brachydactyly, Congenital symmetrical palmoplantar keratosis OMIM:248300
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Greenberg Dysplasia
Abnormally ossified vertebrae, Platyspondyly, Brachydactyly, Micromelia, Abnormal form of the ver... ORPHA:1426
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Micropenis, Small hand, Broad finger, Short phalanx of finger, Brachydactyly, Clinodactyly, Crypt... OMIM:614684
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Hypospadias, Cone-shaped epiphysis, Congenital hypothyroidism, Short phala... OMIM:614613
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Abnormality of retinal pigmentati... ORPHA:2163
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Broad hallux, Lumbar hyperlordosis, Brachydactyly, Short thumb OMIM:165800
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Joubert Syndrome 14
Hydrocephalus, Postaxial polydactyly, Morning glory anomaly, Coloboma, Downslanted palpebral fiss... OMIM:614424
Charlie M Syndrome
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly ORPHA:1406
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... OMIM:194350
Craniosynostosis, Philadelphia Type
Long palpebral fissure, Finger syndactyly ORPHA:1527
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Polydactyly, Scoliosis, Short long bone, Stage 5 chronic kidney disease OMIM:613819
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Alopecia OMIM:212835
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, Short long... ORPHA:85167
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... OMIM:619797
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Clinodactyly of the 5th finger, Abnormality of the hand, Abnorma... ORPHA:2496
Summitt Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Genu valgum, Short 4th me... ORPHA:3210
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Brachydactyly, Pseudohypoparathyroidism, Short me... OMIM:603233
Czeizel-Losonci Syndrome
Ectrodactyly, Split foot, Congenital megaureter, 2-3 finger syndactyly, Abnormality of the urinar... ORPHA:2437
Keipert Syndrome
Broad distal phalanx of finger, Brachydactyly, Broad hallux, Broad thumb, Clinodactyly OMIM:301026
Choroidal Atrophy-Alopecia Syndrome
Sparse or absent eyelashes, Finger syndactyly, Abnormality of retinal pigmentation ORPHA:1433
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Abnormal hair morphology, Hypoplasia of the uterus, ... ORPHA:3130
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydrometrocolpos, Hydroureter, Congenital hip ... OMIM:236700
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Platyspondyly, Broad femoral nec... OMIM:615222
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Ulnar deviation of the hand or of fingers of the hand, Ulnar deviation of the hand, Hyp... OMIM:612079
Abruzzo-Erickson Syndrome
Radioulnar synostosis, Coloboma OMIM:302905
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Sh... OMIM:236500
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Mental Retardation Syndrome, Belgian Type
Coloboma OMIM:249599
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Hypoplasia of the uterus, Alopecia, Brachydactyly, Osteolytic d... OMIM:600705
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm... OMIM:137920
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Avascular necrosis of the capital femo... OMIM:190351
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... OMIM:263540
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Talipes equinovarus, Small hand, Hypospadias,... OMIM:611209
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Optic atrophy, Dia... ORPHA:3152
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Short Stature-Obesity Syndrome
Limb undergrowth, Clinodactyly of the 5th finger, Brachydactyly, Micromelia OMIM:269870
Acrodysostosis
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-sha... ORPHA:950
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Irregular epiphyses, Brachydactyly, Scoliosis, Abnormal form of the vertebral bod... ORPHA:263463
Aminopterin Syndrome Sine Aminopterin
Thoracic scoliosis, Joint contracture of the hand, Arachnodactyly, Brachydactyly, Syndactyly, Cli... OMIM:600325
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Abnormalit... ORPHA:2916
Carpenter Syndrome 1
External genital hypoplasia, Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, ... OMIM:201000
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Renal hypoplasia/aplasia, Renal agenesis, Multi... ORPHA:2538
Chromosome 8Q22.1 Duplication Syndrome
Broad metacarpals, Cervical C2/C3 vertebral fusion, Interphalangeal joint contracture of finger, ... OMIM:151200
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Micropenis, Brachydactyly, Tapered finger, Cryptorchidism, Short finger OMIM:610680
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Holoprosencephaly, Coloboma, Anterior encephalocele, Foot oligodactyly OMIM:601357
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... OMIM:607326
Paternal Uniparental Disomy Of Chromosome X
Infertility, Micropenis, Cubitus valgus, Decreased testicular size, Short metacarpal, Low posteri... ORPHA:261524
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Orofaciodigital Syndrome Vi
Mesoaxial hand polydactyly, Postaxial polydactyly, Renal agenesis, Brachydactyly, Renal dysplasia... OMIM:277170
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Aplasia Cutis Congenita
Skin ulcer, Spinal dysraphism, Finger syndactyly, Toe syndactyly ORPHA:1114
Brachydactyly, Type E1
Short clavicles, Brachydactyly, Type E brachydactyly, Short metatarsal, Short metacarpal OMIM:113300
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Moebius Syndrome
Talipes equinovarus, Micropenis, Hypogonadotropic hypogonadism, Short neck, Brachydactyly, Short ... OMIM:157900
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Cone-shaped epiphysis, Abnormality of the pubic bone, Br... ORPHA:2511
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Bicornuate uterus, Hypospadias, S... ORPHA:2438
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Lumbar hyperlordosis, Abnormal iliac wing morphology, Abnorm... ORPHA:1427
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Scoliosis, Polydactyly, Hydronephrosis, Cryptorchidism, Hip dysplasia ORPHA:531151
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Camptodactyly of finger, Short neck, Brachydactyly, Bilateral single transve... ORPHA:2083
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Brachydactyly, Hydronephrosis OMIM:618265
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Renal agenesis, Overlapping fingers, Scoliosis, Renal hypoplasia, Hydronephrosis... OMIM:618494
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Short digit, Clinodactyly of the 5th finger, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Treacher Collins Syndrome 2
Downslanted palpebral fissures, Coloboma OMIM:613717
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Syndactyly, Brachydactyly, Polyd... OMIM:615986
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Dry skin, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnorma... ORPHA:177
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr... ORPHA:752
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... OMIM:187601
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Brachydactyly, Scoliosis, Aplasia/Hypoplasia of toe, Short proximal phalanx of finger, Short midd... OMIM:613627
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Palmar hyperkeratosis, Alopecia, Plantar hyperkeratosis, Nail dystrophy, Hyperker... ORPHA:79397
Beemer Lethal Malformation Syndrome
Ambiguous genitalia OMIM:209970
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... OMIM:250230
Anauxetic Dysplasia 1
Short toe, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoaxial dislocation, ... OMIM:607095
Ichthyosis, Congenital, Autosomal Recessive 2
Short toe, Small nail, External genital hypoplasia, Alopecia, Erythema, Hyperkeratosis, Palmoplan... OMIM:242100
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth, ... OMIM:601016
Acrogeria
Small hand, Excessive wrinkled skin, Short foot, Thin skin, Fine hair, Skin ulcer ORPHA:2500
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Renal agenesis, Syndactyly, Hypoplasia of the ulna, Renal hypoplasia OMIM:212780
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Joubert Syndrome 23
Polydactyly, Coloboma OMIM:616490
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Bartsocas-Papas Syndrome