| 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, RodrÃguez 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 |
|
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