| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Acrorenal Syndrome |
|
Abnormal renal morphology, Hand oligodactyly |
OMIM:102520 |
| Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
| Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
| Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia |
OMIM:241000 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx ... |
ORPHA:1471 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Brachydactyly, Type A2, With Microcephaly |
|
Diabetes mellitus, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypop... |
OMIM:211369 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,... |
OMIM:120400 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Inguinal her... |
ORPHA:325345 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly |
OMIM:615983 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, P... |
OMIM:615982 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia |
OMIM:613703 |
| Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Orbital cyst |
OMIM:251505 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
| Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Premature pubarche, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral... |
OMIM:612847 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m... |
ORPHA:3104 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:615995 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... |
OMIM:194080 |
| Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Septate vagina, Short toe, Hand polydactyly, Congenital finger ... |
OMIM:114150 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... |
ORPHA:750 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... |
ORPHA:1319 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... |
ORPHA:1436 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ... |
OMIM:615990 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism,... |
ORPHA:85173 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Tetrasomy X |
|
Premature ovarian insufficiency, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th fi... |
ORPHA:9 |
| Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
| Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... |
ORPHA:3258 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Scoliosis, Brachydactyly |
ORPHA:1937 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... |
OMIM:185700 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ... |
ORPHA:2756 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Crossed Polysyndactyly |
|
Upslanted palpebral fissure, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand p... |
ORPHA:2935 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T... |
ORPHA:1307 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hy... |
OMIM:615542 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace... |
ORPHA:166011 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, H... |
OMIM:247990 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... |
OMIM:140000 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo... |
OMIM:146000 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco... |
ORPHA:2370 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615938 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Abnor... |
ORPHA:65759 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
| Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi... |
OMIM:613390 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla... |
OMIM:613573 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus, Downslanted palpebral fissures |
ORPHA:238446 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Fing... |
ORPHA:2251 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla... |
ORPHA:1856 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinod... |
ORPHA:3268 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... |
OMIM:156530 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly |
ORPHA:1795 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow... |
OMIM:608940 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Tapered finger, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis,... |
ORPHA:317 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... |
ORPHA:48 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow, Split hand, 2-3 f... |
OMIM:225280 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Brachydactyly, Down-sloping shoulders, Abnormal ... |
ORPHA:1390 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Occipital encephalocele, Hydrocephalus, Retinal dysplasia |
ORPHA:324416 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly |
OMIM:613094 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... |
OMIM:212360 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Abnormal form... |
ORPHA:1788 |
| Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Alopecia totalis, Abnormality of the nail, Tapered finger |
OMIM:302000 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Limb undergrowth, Talipes equinovarus, Amb... |
OMIM:614209 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
| Idiopathic Isolated Micropenis |
|
Ambiguous genitalia, Micropenis, Hypospadias |
ORPHA:95707 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
| Eem Syndrome |
|
Absent eyebrow, Finger syndactyly, Abnormality of retinal pigmentation, Ectrodactyly, Macular dys... |
ORPHA:1897 |
| Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormally straight spine... |
ORPHA:2900 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ptosis |
ORPHA:1259 |
| Jeune Syndrome |
|
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... |
ORPHA:474 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... |
OMIM:184250 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosi... |
ORPHA:3409 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... |
OMIM:617927 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... |
OMIM:615989 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Abruzzo-Erickson Syndrome |
|
Epicanthus, Toe syndactyly, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synostosis... |
ORPHA:921 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Postaxial polydactyly, Mesoaxial hand polydacty... |
OMIM:615996 |
| Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Bowing of the long bones, True hermaphroditism, Multicystic ... |
ORPHA:564 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha... |
OMIM:201170 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... |
OMIM:143400 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Vesicoure... |
OMIM:244600 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:614500 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital... |
OMIM:132400 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the hand, Almond-shaped palpebral fissure, Frontal encephalocele, Abnormality of t... |
ORPHA:521308 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Mesomelia |
ORPHA:1277 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... |
OMIM:609441 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Small hand, Abnormal femur morphology, Abnormal epiphys... |
ORPHA:969 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Thumb Deformity And Alopecia |
|
Short thumb, Alopecia |
OMIM:188150 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Hypogonadism |
ORPHA:2574 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip... |
ORPHA:166016 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Long eyebrows, Cryptorchidism, Long... |
OMIM:275400 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Epicanthus, Telecanthus, Brachydactyly, Camptodactyly of finger, Abnormal hand bone o... |
OMIM:300244 |
| 20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly |
ORPHA:444051 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydronephrosis, Short neck |
ORPHA:251046 |
| Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
| Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Retinal dystrophy, Polydactyly |
OMIM:614465 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Cutaneous syndactyly, Palmopl... |
ORPHA:2890 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Bra... |
OMIM:612626 |
| Joubert Syndrome 15 |
|
Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy |
OMIM:614464 |
| Acrocephalopolydactyly |
|
Short neck, Abnormal renal morphology, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Bifid scrotum, Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Rudiger Syndrome |
|
Single transverse palmar crease, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Microp... |
OMIM:268650 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidi... |
ORPHA:3051 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U... |
OMIM:616108 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
| Ring Chromosome 14 Syndrome |
|
Epicanthus, Almond-shaped palpebral fissure, Pigmentary retinopathy, Blepharophimosis, Downslante... |
OMIM:616606 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ... |
ORPHA:3320 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra... |
ORPHA:1278 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp... |
ORPHA:3098 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Hyperinsuline... |
ORPHA:3085 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperke... |
ORPHA:494 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Adrenal insufficiency, Hydronephrosis |
ORPHA:251076 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa... |
OMIM:618961 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Absent fingernail, Cl... |
OMIM:609638 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
| Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux |
OMIM:617127 |
| Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ... |
OMIM:617781 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi... |
ORPHA:3121 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Retinal dys... |
OMIM:615665 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Telecanthus, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, ... |
ORPHA:380 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,... |
ORPHA:3109 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Split hand, Sparse body hair, Aplasi... |
ORPHA:2850 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Brachydactyly, Postaxial hand polydactyly, Anterior basal encephalocele, Coloboma, Pe... |
OMIM:136760 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph... |
ORPHA:2619 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger... |
OMIM:272440 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Cryptorchidism, Kyphosis, Sc... |
OMIM:619797 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... |
OMIM:617405 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Small hand, Micropenis, Broad finger, Clinodactyly, Short phalanx of finger, Brac... |
OMIM:614684 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... |
OMIM:173800 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Cryptorchidism, Radioulnar synostos... |
OMIM:194350 |
| Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... |
ORPHA:411709 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Sandal gap |
ORPHA:2515 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossi... |
OMIM:614613 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Abnorma... |
ORPHA:1426 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu valgum, Short ... |
OMIM:614078 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, H... |
ORPHA:93307 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal... |
OMIM:180870 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Hammertoe |
OMIM:619090 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Cryptorchidism, Hypogonadism, Long eyelashes, Sparse hair, Micropenis |
ORPHA:3363 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Short thumb, Lumbar hyperlordosis, Broad hallux, Brachydactyly |
OMIM:165800 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho... |
OMIM:102370 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... |
ORPHA:2928 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
| Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
| Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... |
OMIM:602875 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension, Tapered finger |
OMIM:300706 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Ptosis |
ORPHA:2743 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, 2-3 finger syndactyly... |
ORPHA:2437 |
| Satoyoshi Syndrome |
|
Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Genu varum, Abnormal femur ... |
ORPHA:3130 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
| Craniosynostosis, Philadelphia Type |
|
Long palpebral fissure, Finger syndactyly |
ORPHA:1527 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ... |
ORPHA:897 |
| Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... |
ORPHA:2496 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl... |
ORPHA:2538 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis |
OMIM:302905 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Short neck, Split hand, Micropenis, Abn... |
OMIM:157900 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Alopecia, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Abnorma... |
ORPHA:337 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Satoyoshi Syndrome |
|
Alopecia, Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalanges ... |
OMIM:600705 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Epicanthus, Arachnodactyly, Decreased palmar creases, Limite... |
OMIM:108145 |
| Keipert Syndrome |
|
Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac... |
OMIM:301026 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ... |
OMIM:236700 |
| Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Abnormal form of the vert... |
ORPHA:263463 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim... |
ORPHA:2438 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Clino... |
OMIM:201000 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Optic atrophy, Curved distal phalanges of the hand, Dia... |
ORPHA:3152 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Brachydactyly, Coxa valga, Upslanted palpebral f... |
ORPHA:2163 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, El... |
ORPHA:79445 |
| 9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scoliosis, Hydronephrosis |
ORPHA:531151 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal... |
ORPHA:2511 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Telecanthus, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment ... |
OMIM:617102 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Low u... |
OMIM:603233 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
| Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Flare... |
OMIM:607095 |
| Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars... |
OMIM:615222 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormality of the upper urinary tract, Elbow dislocation, Kyph... |
ORPHA:2916 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism |
ORPHA:1114 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ... |
ORPHA:2083 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchi... |
OMIM:206920 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly |
OMIM:601357 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Dry skin, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergr... |
ORPHA:177 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Alopecia totalis, Aplasia/Hypoplasia of the distal phalanges o... |
ORPHA:1234 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Precocious puberty, Cryptorchidism, Short ... |
OMIM:620073 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... |
OMIM:146110 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... |
ORPHA:2473 |
| Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... |
OMIM:619218 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia |
OMIM:209970 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Short neck, Humeroradial synostosis, Forearm undergrowth... |
OMIM:251230 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly |
OMIM:618618 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, External genital hypoplasia, Abnormal hair morphology, Short toe, Erythema, ... |
OMIM:242100 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Genu varum, Hip dislocation, Deep palma... |
OMIM:619451 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi... |
OMIM:619762 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Epicanthus, Brachydactyly, Broad hallux, Tapered finger, Long fingers, Short toe, ... |
OMIM:618659 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ... |
OMIM:605231 |
| Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax... |
OMIM:615986 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Brachydactyly, Single transverse palmar crease, Adducted thumb |
OMIM:620062 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd... |
OMIM:234250 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Elbow dislocation, Cryptorchidism,... |
ORPHA:93328 |
| Acrogeria |
|
Small hand, Skin ulcer, Fine hair, Short foot, Excessive wrinkled skin, Thin skin |
ORPHA:2500 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... |
OMIM:613091 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Hypogonadis... |
ORPHA:2269 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Micropenis, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
| Larsen Syndrome |
|
