Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 9 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Nephrotic Syndrome, Type 23 |
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Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Nephrotic Syndrome, Type 18 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
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Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
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Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Focal Segmental Glomerulosclerosis 7 |
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Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Focal Segmental Glomerulosclerosis 10 |
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Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Nephrotic Syndrome, Type 4 |
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Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Nephrotic Syndrome, Type 17 |
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Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Nephrotic Syndrome, Type 9 |
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Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Polydactyly, Preaxial Iv |
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Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Triphalangeal Thumb With Polysyndactyly |
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Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Urinary incontinence, Postaxial polydactyly, Accessory oral frenulum, Diastema, Cleft... |
OMIM:617927 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Epicanthus, Abnormality of the philtrum, Abnormality of the dentition, Synophr... |
ORPHA:3268 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule, Vasculitis in the skin |
ORPHA:90000 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Atypical scarring of... |
ORPHA:294975 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Nephrotic Syndrome, Type 22 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... |
OMIM:619155 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Abnormality of the philt... |
ORPHA:2935 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Erythematous papule, G... |
ORPHA:79410 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Cutaneous syn... |
OMIM:617666 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Epicanthus, Anophthalmia, Rhizomelia, Hypospadias, 2-3 toe syndactyly, Long eyelashes... |
OMIM:615877 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Plantar pits, Skin vesicle |
ORPHA:218 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Burn-Mckeown Syndrome |
|
Short stature, Unilateral renal agenesis, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Rena... |
OMIM:608572 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, H... |
OMIM:618142 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Penile freckling, Palmar pits, Digi... |
ORPHA:79145 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic iliac wing, Micropenis, P... |
OMIM:263650 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Short long bone, Bilateral... |
OMIM:618845 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar erythema, Ery... |
ORPHA:64745 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Preaxial hand polydactyly, Synophrys, Orofacial cleft, Large hands |
ORPHA:85287 |
Orofaciodigital Syndrome Type 10 |
|
Telecanthus, Radial deviation of the hand, Cleft soft palate, Accessory oral frenulum, Duplicatio... |
ORPHA:2756 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Hydronephrosis, Parti... |
ORPHA:2669 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Short metacarpal, Toe syndactyly, Hypoplasia of eyelid, Redundant skin, Ablepharo... |
OMIM:200110 |
Wells Syndrome |
|
Skin vesicle, Vasculitis |
ORPHA:901 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Cutaneous syndactyly, Ureteral agenesi... |
OMIM:617667 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Macule, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Ablepharon, Camptodactyly of finger, Redunda... |
ORPHA:920 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Ankyloblepharon, Cleft upper lip |
OMIM:106250 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,... |
OMIM:606242 |
Sprengel Deformity |
|
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... |
ORPHA:3181 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Thick eyebrow, Preaxial hand polydactyly, Synophrys, Radial club hand, Short me... |
ORPHA:1278 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Cleft hard palate, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Unilateral renal agenesis, Synophrys, 2-3 toe syndactyly, Talipes equinovarus, Clinod... |
ORPHA:3306 |
15Q11Q13 Microduplication Syndrome |
|
Finger syndactyly, Epicanthus, Short stature, Clinodactyly of the 5th finger, Downslanted palpebr... |
ORPHA:238446 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea... |
ORPHA:2091 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Unilateral renal agenesis |
OMIM:235740 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid distal phalanx of the thumb, Nephrotic syndrome, Partial duplication of the distal phalanx ... |
OMIM:256200 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon |
ORPHA:1074 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Non-midline c... |
ORPHA:245 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Epicanthus, Radial bowing, Intestinal malrotation, Postaxial polydactyl... |
OMIM:617866 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Talipes, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease,... |
OMIM:617661 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Conjunctivitis, Blepharitis |
ORPHA:254478 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Bilateral single transverse palmar cre... |
ORPHA:1703 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Short stature, Camptodactyly of finger, Renal agenesis, Broad thumb, Short ... |
ORPHA:1471 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... |
OMIM:615993 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Short stature, Unilateral renal agenesis, Postnatal growth retardation,... |
OMIM:619504 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Telecanthus, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia, M... |
OMIM:300484 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Weaver Syndrome |
|
Deep-set nails, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Redu... |
ORPHA:3447 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe synda... |
OMIM:236500 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Lacrimal duct apl... |
DECIPHER:46 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Upslanted palpebral fissure, Unilateral renal agenesis |
ORPHA:2512 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Skin vesicle, Papule, Ptosis |
ORPHA:257 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Thoracic dysplasia, Nar... |
OMIM:614091 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Arachnodactyly, Cleft lip, Synophrys, Cleft palate, Upslanted palpebral fissure, Large ... |
OMIM:300263 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Hennekam-Beemer Syndrome |
|
Macule, Telangiectasia of the skin, Camptodactyly of finger, Subcutaneous nodule, Erythema, Thick... |
ORPHA:2135 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Anophthalmia, Hypospadias, Renal ... |
OMIM:219000 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Epicanthus, Short stature, Proximal placement of thumb, Abnormal thumb morphol... |
ORPHA:1825 |
3Mc Syndrome 3 |
|
Sacral dimple, Short stature, Highly arched eyebrow, Cleft upper lip, Epicanthus inversus, Preaxi... |
OMIM:248340 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp... |
ORPHA:2319 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... |
OMIM:616300 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... |
ORPHA:474 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal hair whorl, Hip dysplasi... |
OMIM:616362 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Preauricular pit, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Cam... |
OMIM:619951 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp... |
ORPHA:2717 |
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 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Talipes, Alopecia totalis, Aplasia/Hypoplasia of the distal ph... |
ORPHA:1234 |
Pemphigus Foliaceus |
|
Erythema, Erythematous plaque, Serpiginous cutaneous lesion, Annular cutaneous lesion, Scaling sk... |
ORPHA:79481 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Acrofrontofacionasal Dysostosis |
|
Ptosis, Hypospadias, Camptodactyly of finger, Micromelia, Hypopigmented skin patches, Eyelid colo... |
ORPHA:1784 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Broad hallux, Sandal gap, Ventricular septal defect, Secundum atrial septal defect, 2-3 toe synda... |
OMIM:600987 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Unilateral renal agenesis, Absent ... |
OMIM:614900 |
Terminal Osseous Dysplasia |
|
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Accessory oral frenulum, Ab... |
OMIM:300244 |
Biemond Syndrome Type 2 |
|
Hypospadias, Preaxial polydactyly, Short stature, Delayed puberty |
ORPHA:141333 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Dermatitis Herpetiformis |
|
Macule, Skin vesicle, Erythema |
ORPHA:1656 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Long penis, Rib fusion, Abnormal rib morphology, Coxa vara... |
ORPHA:1988 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening |
OMIM:183700 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Preauricular pit, Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Epicanthus, Overlapping toe, Unilateral renal agenesis, High, narrow pa... |
OMIM:618494 |
Takenouchi-Kosaki Syndrome |
|
Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space... |
OMIM:616737 |
Braddock Syndrome |
|
Epicanthus, Abnormal hair pattern, Unilateral renal agenesis, Preaxial hand polydactyly, Blepharo... |
ORPHA:52047 |
Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia, Cleft palate, Cleft upper lip |
OMIM:236110 |
Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Papule, Skin ulcer |
ORPHA:48104 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Hypospadias, Upper eyelid coloboma, Clinodactyly of the 5th finger, Thick eyebrow, Pt... |
OMIM:619736 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Cleft pal... |
OMIM:165590 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Telecanthus, Unilateral renal agenesis |
OMIM:206750 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Finger clinodactyly, Lobulated tongue, High palate, Syndactyly, Mesoaxial p... |
ORPHA:2754 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Nevus flammeus, Comedo |
ORPHA:64754 |
Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,... |
ORPHA:2052 |
Craniosynostosis, Philadelphia Type |
|
Long palpebral fissure, Finger syndactyly |
ORPHA:1527 |
Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral synechia |
ORPHA:2016 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Ankyloblepharon, Tibial bowing... |
OMIM:612651 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Downslanted palpebral fissures, Cleft palate |
OMIM:612913 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Dyskeratosis Congenita |
|
Hyperhidrosis, Periodontitis, Skin vesicle, Macule, Aplasia/Hypoplasia of the skin, Hypermelanoti... |
ORPHA:1775 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Upslanted palpebral fissure, Enuresis, High palate, Narrow chest, Bifid uvula |
OMIM:300850 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Synostosis of carpal b... |
ORPHA:90652 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Postaxial polydactyly, Unilateral renal agenesis, Patent ductus arteriosus, Esophagea... |
OMIM:614576 |
Trisomy X |
|
Multicystic kidney dysplasia, Epicanthus, Renal hypoplasia/aplasia, Upslanted palpebral fissure, ... |
ORPHA:3375 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon... |
ORPHA:140976 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Epicanthus, Overlapping toe, Hypospadias, Abnormality of the ... |
ORPHA:363444 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Orbital cyst, Eyelid c... |
OMIM:164180 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Cutis Laxa, Autosomal Dominant 3 |
|
Dermal translucency, Unilateral renal agenesis, Postnatal growth retardation, Hip dislocation, Cu... |
OMIM:616603 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Epicanthus, Unilateral renal agenesis, Highly arched ... |
OMIM:617190 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Ab... |
OMIM:248450 |
Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Redundant skin, Sparse or absent eyelash... |
ORPHA:1231 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Trisomy 4P |
|
Smooth philtrum, Thick eyebrow, Short stature, Camptodactyly of finger, Hypospadias, Abnormality ... |
ORPHA:1738 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle... |
OMIM:308050 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Small nail, Acetabular dysplasia |
OMIM:613618 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Lower eyelid coloboma, Upper eyelid coloboma, Femoral bowing, Flared lower limb metap... |
OMIM:616462 |
Cat-Eye Syndrome |
|
Preauricular pit, Abnormal rib morphology, Hip dysplasia, Preauricular skin tag, Downslanted palp... |
ORPHA:195 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Telecanthus, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, ... |
ORPHA:380 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Patent ductus arteriosus, Horsesho... |
OMIM:613680 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, S... |
OMIM:192445 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Synophrys, Thick lower lip vermilion, Long hallux, ... |
OMIM:618658 |
Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia |
ORPHA:1918 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Skin ulcer, Cleft palate, Gingivitis, Sk... |
ORPHA:2314 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Hooded eyelid, Redundant neck skin, High palate, Mic... |
ORPHA:96170 |
Gordon Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Cleft palate, High palate, Clinodactyl... |
ORPHA:376 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Tachycardia, Neurogenic bladder, Localized skin lesion, ... |
ORPHA:79473 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Single transverse palmar crease, Cutaneous finger syndactyly, Scaling skin, Short palm, Short sta... |
OMIM:618419 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Toe syndactyly, Hamartoma of tongue, Postaxial polydactyly, Pectus excavatum, Accesso... |
OMIM:258860 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Palmoplantar hyperkeratosis, Erythema migrans, Oral mucosal blisters |
ORPHA:158681 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Skin vesicle, Sparse eyelashes, Angular cheilitis |
OMIM:613102 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... |
ORPHA:347 |
Arthrogryposis, Distal, Type 7 |
|
Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Talipes equinovaru... |
OMIM:158300 |
Orofaciodigital Syndrome Xix |
|
Epicanthus, Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brac... |
OMIM:620107 |
Bencze Syndrome |
|
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
Meckel Syndrome, Type 10 |
|
Epicanthus, Sacral dimple, Hypospadias, Ulnar deviation of the hand, Postaxial polydactyly, Posta... |
OMIM:614175 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis |
OMIM:244200 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Chromosome 17Q12 Deletion Syndrome |
|
Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebrow, Sparse eye... |
OMIM:614527 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f... |
OMIM:601349 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Brachyda... |
ORPHA:1277 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,... |
OMIM:618804 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Polycysti... |
OMIM:613885 |
Monosomy 5P |
|
Finger syndactyly, Epicanthus, Short stature, Preauricular skin tag, Small hand, High palate, Int... |
ORPHA:281 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis, Abnormally large globe |
OMIM:618504 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Aplasia cutis congenita, Short dist... |
OMIM:614814 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Epicanthus, Highly arched eyebrow, Dee... |
ORPHA:261120 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Severe periodontitis, Overlapping toe, Short stature, Protrud... |
ORPHA:99843 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Preauricular pit, Congenital hip dislocation, Lacrimal duct s... |
OMIM:113650 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Absent lower eyelashes, Foot oligodactyl... |
OMIM:154400 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Ptosis |
OMIM:617732 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, Dry skin, Aplasia cutis congenita of ... |
OMIM:600906 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... |
OMIM:615008 |
Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Clinodactyly of the 5th finger, Finger syndactyly, Renal hypoplasia, 2-3 toe syndact... |
OMIM:181270 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Short palm, S... |
OMIM:101800 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Ectropion of lower eyelids, H... |
ORPHA:246 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo... |
OMIM:615633 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Sk... |
ORPHA:2631 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Unilateral renal agenesis, Diastema, Patent ductus arteriosus, High palate, Short ... |
OMIM:609757 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Emanuel Syndrome |
|
Preauricular pit, Recurrent urinary tract infections, Congenital hip dislocation, Dental crowding... |
OMIM:609029 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad metatarsal, Short metatarsal, 2-3 toe syndactyly, Sym... |
ORPHA:1540 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Renal cyst |
OMIM:614870 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Epicanthus, Clinodactyly, Split hand, Congenital fibrosis ... |
OMIM:157900 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Downturned corners of mouth, ... |
ORPHA:487796 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Downslanted palpebral fissures, Renal hypoplasia/aplasia |
ORPHA:3316 |
Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Hypospadias, Sandal gap, Hallux varus, Micrognathia, Tapered finger, Ventricular septal... |
OMIM:158170 |
Ivic Syndrome |
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Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Rubinstein-Taybi Syndrome 2 |
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Syndactyly, Epicanthus, Broad hallux, Intestinal malrotation, Short stature, Highly arched eyebro... |
OMIM:613684 |
Pierpont Syndrome |
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Telecanthus, Blepharophimosis, Short toe, High anterior hairline, Broad palm, Unilateral narrow p... |
OMIM:602342 |
Renpenning Syndrome |
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Epicanthus, Hypospadias, Macrodontia, Pectus excavatum, High, narrow palate, Abnormal thumb morph... |
ORPHA:3242 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
Coloboma Of Macula With Type B Brachydactyly |
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Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,... |
OMIM:120400 |
Jawad Syndrome |
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Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Oculocerebrocutaneous Syndrome |
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Skin tags, Finger syndactyly, Ptosis, Congenital hip dislocation, Aplasia/Hypoplasia of the skin,... |
ORPHA:1647 |
Iga Pemphigus |
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Oral mucosal blisters, Ulcerative colitis, Annular cutaneous lesion, Skin vesicle, Skin erosion, ... |
ORPHA:555905 |
6P22 Microdeletion Syndrome |
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Finger syndactyly, Epicanthus, Redundant skin, Patent ductus arteriosus, Clinodactyly, Hydronephr... |
ORPHA:251046 |
Rhizomelic Syndrome, Urbach Type |
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Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... |
ORPHA:3098 |
Cerebrocostomandibular Syndrome |
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Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
Cutis Laxa, Autosomal Recessive, Type Iie |
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Syndactyly, Brachydactyly, Short stature, Highly arched eyebrow, Thick lower lip vermilion, Hip d... |
OMIM:619451 |
Arthrogryposis, Distal, Type 3 |
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Epicanthus, Congenital hip dislocation, Overlapping toe, Down-sloping shoulders, Camptodactyly of... |
OMIM:114300 |
Robinow Syndrome, Autosomal Dominant 2 |
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Dental crowding, Oligodontia, Micropenis, Cleft soft palate, Gingival overgrowth, Mesomelia, Shor... |
OMIM:616331 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
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Epicanthus, Abnormal number of incisors, Coxa valga, Finger clinodactyly, Skin dimple, Bilateral ... |
ORPHA:2958 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Congenital bilateral hip dislocation, Epicanthus, Talipes equinovarus, Hirsutism |
ORPHA:85288 |
Metatropic Dysplasia |
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Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palate, Long thorax, Halberd-... |
ORPHA:2635 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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11 pairs of ribs, Sandal gap, Short toe, Anterior open-bite malocclusion, Perimembranous ventricu... |
OMIM:617877 |
Cystathioninuria |
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Talipes equinovarus, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Cree Mental Retardation Syndrome |
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Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate, Pectus excava... |
OMIM:606851 |
Chromosome 15Q26-Qter Deletion Syndrome |
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Hypospadias, Short middle phalanx of finger, Talipes equinovarus, Blepharophimosis, Micropenis, B... |
OMIM:612626 |
Senior-Loken Syndrome 8 |
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Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Long Qt Syndrome 16 |
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Perimembranous ventricular septal defect |
OMIM:618782 |
Coach Syndrome 1 |
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Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... |
OMIM:216360 |
Joubert Syndrome 20 |
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Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst |
OMIM:614970 |
Cornelia De Lange Syndrome 2 |
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Thin upper lip vermilion, Ptosis, Thick eyebrow, Short stature, Proximal placement of thumb, Limi... |
OMIM:300590 |
1Q21.1 Microduplication Syndrome |
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Hip dysplasia, Hypospadias, Talipes equinovarus, Hip dislocation |
ORPHA:250994 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Brachydactyly Type B2 |
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Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Joubert Syndrome 15 |
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Micropenis, Preaxial polydactyly, Nephronophthisis |
OMIM:614464 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Epicanthus, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Hirsutism |
OMIM:300434 |
Toriello-Lacassie-Droste Syndrome |
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Abnormal penis morphology, Epicanthus, Aplasia/Hypoplasia of the skin, Hypospadias, Telecanthus, ... |
ORPHA:3339 |
Suleiman-El-Hattab Syndrome |
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Smooth philtrum, Thin upper lip vermilion, Epicanthus, Single transverse palmar crease, Highly ar... |
OMIM:618950 |
Branchio-Oculo-Facial Syndrome |
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Deep philtrum, Orofacial cleft, Postauricular pit, High palate, Microdontia, Upper lip pit, Preau... |
ORPHA:1297 |
Heart-Hand Syndrome, Slovenian Type |
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Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Renal agenesis, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
Neurofaciodigitorenal Syndrome |
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Epicanthus, Abnormality of the philtrum, Abnormal oral mucosa morphology, Abnormal distal phalanx... |
ORPHA:2673 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon |
OMIM:235750 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Aminopterin Syndrome Sine Aminopterin |
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Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Highly arc... |
OMIM:600325 |
8Q22.1 Microdeletion Syndrome |
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Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Spars... |
ORPHA:178303 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
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Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:3201 |
Polysyndactyly With Cardiac Malformation |
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Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ... |
OMIM:263630 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
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Nevus flammeus, Dental crowding, Upper limb asymmetry, Hyperhidrosis, Polydactyly, High palate, C... |
ORPHA:231140 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Renal c... |
OMIM:614815 |
Orofaciodigital Syndrome Xvii |
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Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... |
OMIM:617926 |
Joubert Syndrome 22 |
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Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Mic... |
OMIM:615665 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Ablepharon, Toe syndactyly, Rocker bottom foot |
OMIM:616038 |
Brachycephaly, Trichomegaly, And Developmental Delay |
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Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Synophrys, Supernumerary toot... |
OMIM:617412 |
Rhizomelic Syndrome |
|
Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Hip dislocation, Pulmonic stenosis, ... |
OMIM:268250 |
Mmep Syndrome |
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Mandibular prognathia, Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
Aplasia Cutis Congenita |
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Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Aplasia cuti... |
ORPHA:1114 |
Limb-Mammary Syndrome |
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Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Cleft palate, Split foot, Hypodonti... |
OMIM:603543 |
Fanconi Anemia, Complementation Group O |
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Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic... |
OMIM:613390 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ... |
ORPHA:3082 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Abnormal hair morpholo... |
OMIM:607597 |
Schilbach-Rott Syndrome |
|
Epicanthus, Hypospadias, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cu... |
OMIM:164220 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Syndactyly, Sandal gap, Aplasia cutis congenita, Widely spaced toes, Clinodactyly of the 5th fing... |
OMIM:609638 |
Blepharo-Cheilo-Odontic Syndrome |
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Finger syndactyly, Epidermoid cyst, Conical tooth, Carious teeth, Abnormal eyelid morphology, Ect... |
ORPHA:1997 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Lateral clavicle hook, Postaxial polyd... |
OMIM:617925 |
Joubert Syndrome 10 |
|
Epicanthus, Postaxial polydactyly, Deep philtrum, Thick vermilion border, Downslanted palpebral f... |
OMIM:300804 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Distal Deletion 17Q |
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Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Aplasia/Hypoplasia of t... |
ORPHA:1597 |
Treacher Collins Syndrome 4 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:618939 |
Microphthalmia With Limb Anomalies |
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Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnormality of the dentit... |
ORPHA:276422 |
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hypoplastic toenails, Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
Diaphanospondylodysostosis |
|
Missing ribs, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts |
ORPHA:66637 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ptosis, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlappi... |
OMIM:618436 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho... |
ORPHA:971 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypospadias, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Shor... |
ORPHA:2013 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Sandal gap, Postaxial polydactyly, Hypo... |
OMIM:615761 |
Kallmann Syndrome With Spastic Paraplegia |
|
Sparse pubic hair, Micropenis, Pes cavus, Unilateral renal agenesis |
OMIM:308750 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Syndactyly, Epicanthus, Short stature, Accessory oral frenulum, Hyperpigmented ... |
ORPHA:88630 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Lower limb asymmetry, Sparse eyebrow, Scarring alopecia ... |
ORPHA:35173 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Synophrys, Downturned corners of mouth, High palate, Widely spaced t... |
OMIM:300882 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Nephrolithiasis, Hip dysplasia, Talipes equinovarus, Clinodactyly of... |
OMIM:617219 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly, Spina bifida,... |
OMIM:256520 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Ptosis, Rocker bottom foot, Proximal placement of thumb, Hypertricho... |
OMIM:619762 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Sho... |
ORPHA:2251 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, Bilateral single... |
ORPHA:3033 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia, Pelvic kidney,... |
OMIM:613001 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Clinodactyly, Gingival... |
OMIM:618529 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Synostosis of carpal bones, H... |
ORPHA:3258 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Supern... |
OMIM:263750 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Telecanthus, Small hand, Talipes equinovarus, Camptodac... |
OMIM:619980 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Synophrys, High palate, Short stature, Highly arched eye... |
OMIM:213980 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Telecanthus, Single transverse ... |
OMIM:618161 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Lambert Syndrome |
|
Hypospadias, Talipes equinovarus |
OMIM:245550 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Cheilitis, Conjunctivitis, Scaling skin, Skin vesicle, Purpura |
ORPHA:293173 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3... |
ORPHA:2712 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Short stature, Single transverse palmar crease, Bifid di... |
ORPHA:370010 |
Moderate Multiminicore Disease With Hand Involvement |
|
Recurrent patellar dislocation, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper lim... |
ORPHA:178145 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Synophrys, Downturned corners of mouth, High palate, Preauricular pit, Short stature, Highly arch... |
OMIM:613792 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodacty... |
ORPHA:2496 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Subcutaneous nodule, Upper eyelid coloboma, Absent inner eyelashes... |
ORPHA:1791 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Cervical ribs, Talipes equinov... |
OMIM:601389 |
Oculoauriculofrontonasal Syndrome |
|
Skin tags, Preauricular skin tag, Limbal dermoid, Upper eyelid coloboma |
ORPHA:398156 |
Grant Syndrome |
|
Bowing of the long bones, Open bite, Abnormal rib morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:2097 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Aplastic clavicle, Postaxial polydactyly, Accessory oral frenulum, Micromeli... |
OMIM:616546 |
Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture... |
OMIM:614335 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Redundant neck skin, Broad hallux, Short stature, Hypospadias, Hand po... |
OMIM:239710 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,... |
OMIM:611560 |
Schizophrenia 1 |
|
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o... |
OMIM:181510 |
Blepharocheilodontic Syndrome 2 |
|
Conical tooth, Lagophthalmos, Cleft lip, Ectropion of lower eyelids, Cutaneous syndactyly, Tooth ... |
OMIM:617681 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Lacrimal duct st... |
ORPHA:73246 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Short stature, Delayed epiphyseal ossification, Triangular mouth, Genu valgum, Cutaneous syndacty... |
ORPHA:166024 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Torus palatinus, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:2790 |
Sweet Syndrome |
|
Abnormality of the hand, Skin nodule, Dilated cardiomyopathy, Pyoderma gangrenosum, Inflammation ... |
ORPHA:3243 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Pectus excavatum, High, narrow pal... |
ORPHA:957 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Macular hypopigmented whorls, streaks, and patches, Thick lower lip vermi... |
OMIM:300337 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Hypoplastic thumbnail, Renal cyst, Finger clinodactyly, Congenit... |
ORPHA:1692 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Cousin Syndrome |
|
Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinodactyly of the 5... |
OMIM:260660 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Abnormality of the urethra, Split hand, Abnormal rib morphology, C... |
ORPHA:2145 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Hypoplasia of t... |
OMIM:212780 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Distal upper limb muscle weakness, Tal... |
OMIM:619216 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Low anterior hairline, Clinodactyly of the 5th finger, Hypospadias, Highly arched eyeb... |
OMIM:619293 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Telecanthus, Unilateral renal agenesis |
ORPHA:1064 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Lacrimal duct stenosis, Optic nerve hypoplasia, Unilateral re... |
ORPHA:221139 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
W Syndrome |
|
Hypoplasia of the ulna, Telecanthus, Broad uvula, Radial bowing, Metatarsus adductus, Elbow dislo... |
ORPHA:2804 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Pierre-Robin sequence, Long palpebral fi... |
OMIM:620183 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Preauricular pit, Aplasia/Hypoplasia of the thumb, Short stature, Distal urethral duplication, Re... |
ORPHA:2549 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... |
OMIM:113000 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Epicanthus, Telecanthus, Redundant skin, Abnormal eyelash morphology, Non-midl... |
ORPHA:1252 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... |
ORPHA:508498 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Sparse eyelashes, Lower eyelid coloboma |
OMIM:616367 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Coxa vara, Pectus carinatum, Clinodactyly of the 5th ... |
OMIM:614701 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Ectropion of lower eyelids, Preaxial polyda... |
OMIM:614976 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cystic renal ... |
OMIM:181180 |
Buratti-Harel Syndrome |
|
Epicanthus, Broad hallux, Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate,... |
OMIM:619314 |
Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd toe, ... |
OMIM:615297 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Cleft palate, Upslanted palpebral fissure, P... |
ORPHA:1797 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Abnormal digit morphology, Eyelid coloboma, Palmoplantar cutis laxa, Downslanted palpebral fissur... |
OMIM:268850 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C... |
ORPHA:93316 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Cleft palate,... |
ORPHA:2021 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ankylosis, Sho... |
ORPHA:95699 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ptosis, Ureteral stenosis, Ulnar deviation of the hand, Single transverse palmar crea... |
OMIM:272950 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil... |
ORPHA:2260 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... |
ORPHA:2839 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
White Forelock With Malformations |
|
Finger syndactyly, Epicanthus, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th fi... |
ORPHA:2475 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring... |
OMIM:156530 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Carious teeth, S... |
OMIM:617102 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Charlie M Syndrome |
|
Finger syndactyly, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilion border, Shor... |
ORPHA:1406 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hip contracture, Hydroureter, Epicanthus, Unilateral renal agenesis, Br... |
OMIM:619194 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch... |
OMIM:605282 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Radioulnar synostosis, Multicystic kidney dysplasia |
ORPHA:3270 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... |
OMIM:184250 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Short metacarpal, Tape... |
OMIM:612350 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Abnormal metacarpal morphology, L... |
ORPHA:166100 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... |
OMIM:611561 |
Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... |
ORPHA:2751 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Epicanthus, Arachnodactyly, Camptodactyly of finger, Short stature, Abnormalit... |
ORPHA:2994 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Abnormal thorax morphology, A... |
ORPHA:1318 |
Limb-Mammary Syndrome |
|
Syndactyly, Absent lacrimal punctum, Toe syndactyly, Chronic irritative conjunctivitis, Submucous... |
ORPHA:69085 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... |
ORPHA:628 |
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 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Epicanthus, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Missin... |
ORPHA:2759 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Downslanted palpebral fissures, Broad thumb, Smooth philtr... |
OMIM:614526 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Diaphyseal thicken... |
ORPHA:3152 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Rocker bottom foot |
OMIM:616570 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Deformed rib cage, Coxa vara, Narr... |
ORPHA:168549 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Prieto Syndrome |
|
Epicanthus, Coxa valga, Patellar subluxation, Talipes equinovarus, Radial deviation of finger, Pa... |
OMIM:309610 |
Mehmo Syndrome |
|
Tapered finger, Hypoplasia of penis, Talipes equinovarus, Micropenis |
ORPHA:85282 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Renal agenesis, Telecanthus, Ectopic kidney, Hypoplasia of t... |
ORPHA:140952 |
Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate |
OMIM:614120 |
Whistling Face Syndrome, Recessive Form |
|
Epicanthus, Telecanthus, Shoulder flexion contracture, Elbow flexion contracture, Ulnar deviation... |
OMIM:277720 |
Snijders Blok-Campeau Syndrome |
|
Taurodontia, Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect, E... |
OMIM:618205 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger... |
ORPHA:959 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Telecanthus, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Cleft ... |
OMIM:603671 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, ... |
OMIM:119580 |
Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Urinary bladder sphincter dysfun... |
ORPHA:3115 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Alopecia, Optic nerve hypoplasia, Postaxial hand polydactyly, Renal hy... |
ORPHA:85284 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Low posterior hairline |
OMIM:118100 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fis... |
OMIM:614083 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Epicanthus, Congenital hip dislocation, Talipes equinovarus |
OMIM:130010 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone... |
OMIM:600057 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Pectus carinatum, High palate, Bilateral coxa valga, Bifid uvula, Sca... |
OMIM:615582 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Finger syndactyly, Broad hallux phalanx, Hypospadias, E... |
ORPHA:2211 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul... |
OMIM:184260 |
Trisomy 13 |
|
Preauricular pit, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Hi... |
ORPHA:3378 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Sparse pubic hair, Micropenis, Pes cavus, Unilateral renal agenesis |
OMIM:308700 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Micrope... |
OMIM:200990 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Toe syndactyly, Short stature, Hypospadias, Coronal hypospadias, Short toe, Cleft pal... |
ORPHA:921 |
20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Telecanthus, Tented upper lip vermilion, Finger syndactyly, Highly arch... |
ORPHA:313781 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... |
OMIM:607426 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Renal hypoplasia, Sparse hair, Limb unde... |
OMIM:616541 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Papule, Finger s... |
ORPHA:2907 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Micropenis, Tricuspid ... |
OMIM:263520 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Anodontia, Sandal gap, Short hallux, Proximal placement of thumb, Abnor... |
ORPHA:90650 |
3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Deep philtrum, Downturned corners of mouth, Sho... |
ORPHA:435638 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Highly arched eyebrow, High palate, ... |
OMIM:612292 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Striae distensae, Unilateral renal agenesis |
OMIM:606408 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Absent eyelashes, Preaxial hand polydactyly, Carious teeth, Cleft palate, Hypohid... |
ORPHA:2316 |
Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus |
OMIM:610244 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... |
ORPHA:2750 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, G... |
OMIM:201000 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a... |
ORPHA:93323 |
Hemifacial Microsomia With Radial Defects |
|
Preauricular pit, Short mandibular rami, Preauricular skin tag, Non-midline cleft lip, Cleft pala... |
OMIM:141400 |
Mungan Syndrome |
|
Vesicoureteral reflux, Perimembranous ventricular septal defect, Renal hypoplasia, Pulmonic stenosis |
OMIM:611376 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus... |
ORPHA:2614 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping sho... |
ORPHA:392 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cys... |
OMIM:270400 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Eyelid coloboma, Blepharophimosis |
ORPHA:1104 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, Accessory oral ... |
OMIM:277170 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Hypospadias, Ventricular septal defect, Tapered finger, Absent frontal sin... |
OMIM:301040 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Anophthalmia, Abnormal location of the eyebrow, Optic ne... |
ORPHA:141099 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morpholog... |
ORPHA:1794 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Upslanted palpebral fissure, Bilateral talipes equinovarus |
OMIM:616486 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Sparse eyebrow, Metaphy... |
OMIM:250410 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:603194 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Epicanthus, Pectus excavatum, Submucous cleft hard palate, Unilateral cleft lip... |
OMIM:619122 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormality of the dentition, Abnormal rib morphology, Skin dimple, Nar... |
ORPHA:436 |
Distal 22Q11.2 Microduplication Syndrome |
|
Epicanthus, Toe syndactyly, Palpebral edema, Camptodactyly of finger, Unilateral renal agenesis, ... |
ORPHA:261337 |
Nail-Patella Syndrome |
|
Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodac... |
OMIM:161200 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Myhre Syndrome |
|
Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Ab... |
ORPHA:2588 |
Ventriculomegaly And Arthrogryposis |
|
Hand clenching, Ulnar deviation of the wrist, Talipes equinovarus |
OMIM:619501 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Short stature, Bilateral single tran... |
ORPHA:2377 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly, Hypospadias, Renal cyst |
OMIM:605231 |
Rapadilino Syndrome |
|
Short stature, Sparse eyelashes, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow pa... |
OMIM:266280 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, Pectus excavatum, Cleft palate, Pectus carinatum, High palate, Cervical ribs, Pt... |
OMIM:609654 |
Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Hypoplastic toenails, Eyelid coloboma, Foot polydactyly, Short palm, Microphthalmia |
ORPHA:268249 |
Split-Hand/Foot Malformation 3 |
|
Narrow mouth, Split hand, Renal hypoplasia, Cleft palate, High palate, Camptodactyly |
OMIM:246560 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Telecanthus, Severe short stature, Carious teeth, Hip di... |
OMIM:203550 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Hypospadias, Sandal gap, Camptodactyly of finger, Down-s... |
ORPHA:1520 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Widely-spaced maxillary central incisors, Oligodontia, Partial duplicat... |
ORPHA:363417 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Talipes equinovarus, Upper limb amyotrophy |
ORPHA:99940 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Absent eyebrow, Alopecia, Absent eyelashes, Metaphys... |
ORPHA:166035 |
Wiedemann-Steiner Syndrome |
|
Synophrys, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Bro... |
OMIM:605130 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Epicanthus, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absen... |
OMIM:617641 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pectus excavatum, Hyp... |
OMIM:311900 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Short philtrum, High palate, Short statu... |
ORPHA:96121 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Low posterior hairline, Spina bifida occulta, Hypertri... |
OMIM:619227 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Postaxial hand polydacty... |
ORPHA:65759 |
Pierpont Syndrome |
|
Pes planus, Telecanthus, Short toe, Abnormality of the plantar skin of foot, Narrow palpebral fis... |
ORPHA:487825 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Hip dysplasia, Areflexia of lower limbs, Tal... |
OMIM:611890 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Numerous nevi, Penile freckling, Preaxial hand polydactyly, Foot polydactyl... |
ORPHA:210548 |
Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Lateral clavicle hook, High, narrow palate, 2-3 toe cu... |
OMIM:600920 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Eem Syndrome |
|
Finger syndactyly, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... |
ORPHA:1897 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Epicanthus, Hypertrichosis, Oligosacchariduria, Talipes equinovarus, Camptodactyly, Clinodactyly,... |
OMIM:616354 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot... |
OMIM:258850 |
3M Syndrome |
|
Congenital hip dislocation, Hypoplastic ischia, Micromelia, Enlarged thorax, Clinodactyly of the ... |
ORPHA:2616 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Pes planus... |
ORPHA:2308 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Preauricular pit, Epicanthus, Abnormality of the philtrum, Short stature, Bilateral single transv... |
ORPHA:1770 |
8Q24.3 Microdeletion Syndrome |
|
Skin tags, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral ren... |
ORPHA:508488 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ptosis, Hypoplastic fingernail, Epicanthus, Re... |
OMIM:220500 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Abnormal dental enamel morphology, Abno... |
ORPHA:1515 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Hirsutism |
OMIM:619318 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Short stature, Cleft pal... |
ORPHA:251019 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morph... |
ORPHA:2484 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the fibula,... |
ORPHA:2256 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... |
ORPHA:1300 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h... |
OMIM:615994 |
Verheij Syndrome |
|
Branchial cyst, Renal agenesis, Optic nerve hypoplasia, Hip dislocation, Renal hypoplasia, Renal ... |
OMIM:615583 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Fetal pyelectasis, Knee flexion contr... |
OMIM:616531 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap,... |
OMIM:174300 |
Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Sprengel anoma... |
ORPHA:2345 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Absent eyelashes, Cleft lip, Cleft palate, Cutaneous syndactyly, Palmoplantar ker... |
ORPHA:2890 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Upper eye... |
ORPHA:457284 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Sh... |
ORPHA:783 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Talipes equinovarus, Peroneal muscle atrophy |
OMIM:181400 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma |
OMIM:613456 |
Xylt1-Cdg |
|
Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border, ... |
ORPHA:370930 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyelashes, Abnormality of the philtrum, Cleft upper lip, Sparse eyebrow, Cleft palate, Pal... |
OMIM:225060 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Pectus excavatum, Abnormal... |
ORPHA:2522 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna... |
OMIM:269250 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizomelia, Dumbbell-sh... |
OMIM:228520 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Telecanthus, Redundant neck skin, Hypospadias, Optic nerve hypoplas... |
OMIM:301056 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Finger syndactyly, Epicanthus, Short stature, Camptodactyl... |
ORPHA:915 |
Orofaciodigital Syndrome Ix |
|
Telecanthus, Median cleft lip, Toe syndactyly, Short stature, Accessory oral frenulum, Abnormalit... |
OMIM:258865 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Aplasia/Hypoplasia of the skin, Short stature, Sparse eyelashes, Abnormal eyel... |
ORPHA:1787 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyl... |
OMIM:607361 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ... |
ORPHA:1354 |
Summitt Syndrome |
|
Finger syndactyly, Epicanthus, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of ... |
ORPHA:3210 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Telecanthus, Abnormal fingernail morpho... |
ORPHA:2036 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Pes cavus, Talipes equinovarus, Upper limb amyotrophy |
OMIM:617087 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Patent ductus arteriosus,... |
OMIM:615996 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Epicanthus, Redundant neck skin, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary a... |
ORPHA:2519 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Abnormal foot morphology, Patent ductus arteriosus, Low anterior hair... |
ORPHA:2095 |
Atelosteogenesis Type Ii |
|
Micromelia, Narrow chest, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand... |
ORPHA:56304 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Carious teeth, Pyloric stenosis, Congenital localized absence of skin, Atrophic scars... |
OMIM:226700 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Short distal phalanx of finger, Micrognathia |
ORPHA:2513 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Short stature |
OMIM:210350 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... |
ORPHA:261344 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Camptodact... |
ORPHA:468631 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Micrognathia, Secundum atrial septal defect, Perimembranous ventricular septa... |
OMIM:608779 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Telecanthus, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Carpal synostosis, Ab... |
ORPHA:2010 |
Cleidocranial Dysplasia |
|
High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty... |
ORPHA:1452 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Dacryocystitis, Abnormal ... |
ORPHA:166119 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Telecanthus, Broad hallux, Hamartoma of tongue, Epispadias, Postaxial hand polydacty... |
OMIM:615948 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Highly arched eyebrow, B... |
ORPHA:404440 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Short stature, Postnatal growth retardation, Patent ductus arteriosus, Small hand, An... |
OMIM:616489 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Epicanthus, Redundant neck skin, Overlapping toe, Exaggerated cupid's bow, Single trans... |
ORPHA:254528 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Epicanthus, Polydactyly, Nephroblastoma, Downslanted palpebral fissures, Smooth philtrum |
OMIM:602501 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Epicanthus, Hypospadias, Polydactyly, Intrauterine growth retardation, Hypoplastic ischia |
OMIM:616910 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Martsolf Syndrome 1 |
|
Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm, Abnormal toen... |
OMIM:212720 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Talipes equinovarus, Camptodactyly |
OMIM:608104 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth, Hip dyspla... |
ORPHA:531151 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Sparse hair, Microphthalmia, Micropenis, Hydronephrosis, Ptosis |
OMIM:619185 |
Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Postnatal growth retardation, Cutaneous synd... |
OMIM:272440 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Short thumb, Radial club hand, Hypoplasia ... |
ORPHA:1972 |
Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Pes planus, Ptosis, Epicanthus, Highly arched eyebrow, Metatarsus ... |
OMIM:301069 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone... |
ORPHA:916 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Telecanthus, Short femur, Fractured radius, Hypospadias, Beaded ribs, Dec... |
OMIM:616897 |
Marden-Walker Syndrome |
|
Epicanthus, Hypospadias, Arachnodactyly, Renal hypoplasia, Radioulnar synostosis, Talipes equinov... |
OMIM:248700 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,... |
ORPHA:1001 |
Treacher Collins Syndrome 3 |
|
Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:248390 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Cleft palate, Thin ribs, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly |
OMIM:618265 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula, Syndactyly, Short stature,... |
OMIM:129400 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Patent ductus arteriosus, Femoral bowi... |
OMIM:618188 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... |
OMIM:615382 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Absent lacrimal punctum, Sparse eyelashes, Abnormal... |
ORPHA:1071 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Synophrys, Pectus carinat... |
OMIM:615777 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... |
ORPHA:158684 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Talipes, Tapered finger, Patent ductus arteriosus, Urethral ... |
ORPHA:261290 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Pes planus, Achilles tendon contracture, Decreased patellar re... |
OMIM:615290 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615683 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Small hypothenar eminence, Small thenar eminence, Talipes equinovarus, Distal lower limb muscle w... |
OMIM:609311 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Hypospadias, Selective tooth agenesis, Blepharophimosis, Cleft palate, Oligodon... |
OMIM:613823 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Scaling skin, Periungual erythema, Atrichia, Neonatal death, Dystrophic fingernails, Absent eyebr... |
OMIM:308205 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Femoral bowing, N... |
ORPHA:83 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... |
OMIM:180860 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Ptosis, Congenital hip dislocation, Overlapping toe, Single transverse palmar cr... |
OMIM:108120 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus carinatum, Abnorm... |
ORPHA:3068 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned co... |
ORPHA:1507 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Patent ductus arteriosus, W... |
OMIM:617746 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, High, narrow palate, Anodontia, Short m... |
ORPHA:2980 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft ... |
OMIM:243605 |
Diastrophic Dysplasia |
|
Hip contracture, Flattened epiphysis, Ulnar deviation of finger, Genu valgum, Irregular epiphyses... |
OMIM:222600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Trisomy 20P |
|
Low anterior hairline, Coarse hair, Finger syndactyly, Hypospadias, Abnormality of the kidney, Sp... |
ORPHA:261318 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Postnatal growth retardation, Cleft palate, Short 5th finger, Polydactyl... |
ORPHA:397590 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal agenesis, Structural... |
ORPHA:464306 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Congenital hip dislocation, Aplasia cutis congeni... |
ORPHA:217346 |
Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Short stature, Renal agenesis, Sparse eyebrow, Long fingers, Paten... |
OMIM:619648 |
Jacobsen Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Nasolacrimal duct obst... |
OMIM:147791 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... |
OMIM:609616 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Metaphyseal widening, Broad palm, Coxa vara, Thin ribs, Metaphyseal cupping... |
OMIM:300232 |
Kbg Syndrome |
|
Thin upper lip vermilion, Telecanthus, Macrodontia, Short stature, Single transverse palmar creas... |
ORPHA:2332 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth ret... |
OMIM:614800 |
Zttk Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Bifid uvula, Short stature, Sparse eyeb... |
OMIM:617140 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Transposition of the great arte... |
OMIM:231060 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal fingertip morphology, Postnatal growth retardation, Almond-shaped palpebral fissure, Dow... |
ORPHA:529965 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abnormal rib morphology, Cleft pal... |
ORPHA:2167 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Cleft upper lip, Vesi... |
OMIM:244600 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, Renal hypoplasia, 2-3 toe syndactyly, Small thenar eminence, Umbilical... |
OMIM:618914 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Syndactyly, Epicanthus, Narrow mouth, Growth delay, Camptodactyly, Blepharop... |
OMIM:616006 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Eyelid coloboma, Hand polydactyly, Talipes equinovarus, Bladder exstrophy |
OMIM:217100 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Thick hair, Highly arched eyebrow, Tapered finger, Long fingers, Synophrys, Long eyelashes, Talip... |
OMIM:617773 |
Actinic Prurigo |
|
Glomerulonephritis |
OMIM:174770 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla... |
OMIM:613573 |
Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Vesicoureteral reflux,... |
OMIM:192350 |
Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Postaxial polydactyly, Highly arched eyebrow, Meningocele, Renal cyst,... |
OMIM:614424 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting the p... |
ORPHA:2990 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Ulnar deviation of the hand, Telecanthus, Frontotemporal hypertrichosis, Metaphyseal ... |
OMIM:263210 |
Momo Syndrome |
|
Epicanthus, Hyperconvex nail, Bilateral microphthalmos, Femoral bowing, Large hands, Eyelid colob... |
ORPHA:2563 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Persistent fetal circulation, Smooth philtrum, Tricuspid regurgita... |
OMIM:612863 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Naevus flammeus of the eyelid, Downturned corners of mouth, Advanced eruption of teeth, Finger sy... |
ORPHA:2215 |
Nanophthalmos 1 |
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Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
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Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
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Microphthalmia |
OMIM:609549 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Focal segmental glomerulosclerosis |
OMIM:616239 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Epicanthus, Telecanthus, Accessory oral frenulum, Preaxial hand polydactyly, Cleft palate, Upslan... |
ORPHA:79113 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
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Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Aplasia cutis congen... |
OMIM:613026 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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Preauricular pit, Renal agenesis, Bilateral single transverse palmar creases, Renal hypoplasia/ap... |
ORPHA:2516 |
Roifman Syndrome |
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Thin upper lip vermilion, Short metacarpal, Hip contracture, Short stature, Single transverse pal... |
OMIM:616651 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
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Thick eyebrow, Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
Pallister-Hall Syndrome |
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Ectopic kidney, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, M... |
OMIM:146510 |
Basal Cell Nevus Syndrome 1 |
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Skin tags, Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Down-sloping sh... |
OMIM:109400 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Epicanthus, Telecanthus, Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atres... |
OMIM:610536 |
Mucopolysaccharidosis, Type Ix |
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Finger joint hypermobility, Submucous cleft hard palate, Bifid uvula, Acetabular erosions |
OMIM:601492 |
Autosomal Recessive Amelia |
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Hypoplasia of penis, Micrognathia, Abnormal cardiac septum morphology, Amelia involving the upper... |
ORPHA:1027 |
Cranioectodermal Dysplasia 3 |
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Telecanthus, Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, 2-... |
OMIM:614099 |
Otopalatodigital Syndrome, Type I |
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Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl... |
OMIM:617895 |
Autosomal Dominant Cutis Laxa |
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Pes planus, Dermal translucency, Redundant neck skin, Genu recurvatum, Redundant skin, Unilateral... |
ORPHA:90348 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Curry-Jones Syndrome |
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Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Abnorm... |
ORPHA:1553 |
Congenital Disorder Of Glycosylation, Type Iig |
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Thoracic scoliosis, Single transverse palmar crease, Glossoptosis, High palate, Hypospadias, Rhiz... |
OMIM:611209 |
Isolated Polycystic Liver Disease |
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Multiple renal cysts |
ORPHA:2924 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Ap... |
ORPHA:958 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
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Sandal gap, Short stature, Tapered finger, Cleft lip, Small hand, Cleft palate, Downturned corner... |
OMIM:618089 |
Holt-Oram Syndrome |
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Hypoplasia of the ulna, Short humerus, Syndactyly, Ventricular septal defect, Absent thumb, Aplas... |
OMIM:142900 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
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Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
Dihydropyrimidinase Deficiency |
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Uraciluria, Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
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Microphthalmia |
OMIM:616335 |
Familial Spontaneous Pneumothorax |
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Pneumothorax, Abnormal pleura morphology |
ORPHA:2903 |
Denys-Drash Syndrome |
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Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Multiple Epiphyseal Dysplasia Type 4 |
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Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double-layered patel... |
ORPHA:93307 |
Microphthalmia, Isolated, With Cataract 1 |
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Microphthalmia |
OMIM:156850 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
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Hip contracture, Pes planus, Elbow flexion contracture, Knee flexion contracture, Talipes equinov... |
OMIM:600175 |
Prune Belly Syndrome |
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Congenital hip dislocation, Hydroureter, Patent ductus arteriosus, Congenital posterior urethral ... |
OMIM:100100 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ... |
OMIM:608940 |
Birt-Hogg-Dube Syndrome 1 |
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Renal neoplasm, Trichodiscoma, Renal cyst, Renal cell carcinoma, Sebaceous hyperplasia |
OMIM:135150 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Vesicoureteral reflux, Multiple renal cysts, Abnormal hip bone morphology, Renal hypoplasia/aplasia |
ORPHA:1166 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... |
OMIM:608670 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Metaphyseal dysplasia, Short metacarpal, Enlargement of the costochondral junction, Capitate-hama... |
OMIM:271650 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
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Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnorm... |
OMIM:302960 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Thin ribs, Pectus... |
OMIM:612921 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Refsum Disease |
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Short metacarpal, Renal insufficiency, Abnormal foot morphology, Hammertoe, Abnormal epiphysis mo... |
ORPHA:773 |
Tetrasomy 12P |
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Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Sparse eyebrow, Abnormal soft p... |
ORPHA:884 |
15Q24 Microdeletion Syndrome |
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Proximal placement of thumb, Microphallus, Short stature, Hypospadias, Narrow mouth, Smooth philt... |
ORPHA:94065 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Robinow Syndrome, Autosomal Recessive 1 |
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Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Short palm, Micropenis, Duplicatio... |
OMIM:268310 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Short stature, Hyp... |
ORPHA:672 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Craniometadiaphyseal Dysplasia |
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Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth, Cubitus valgus, Flared... |
OMIM:269300 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Meckel Syndrome, Type 4 |
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Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:611134 |
Helsmoortel-Van Der Aa Syndrome |
|
Ectropion of lower eyelids, Enuresis nocturna, Eyelid coloboma, Short 4th toe, Clinodactyly of th... |
OMIM:615873 |
Spastic Paraplegia 45, Autosomal Recessive |
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Talipes equinovarus |
OMIM:613162 |
Al Kaissi Syndrome |
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Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Short stature, Sacral dimple, Pos... |
OMIM:617694 |
Diamond-Blackfan Anemia 21 |
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Hallux valgus, Unilateral ptosis, Aortic regurgitation, Sandal gap, Tapered finger, Preaxial hand... |
OMIM:620072 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Orbital cyst |
OMIM:251505 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Short stature, Brachydactyly |
OMIM:610023 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, High palate, Sprengel ano... |
ORPHA:2180 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... |
OMIM:300963 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Frontonasal Dysplasia 1 |
|
Ptosis, Epicanthus, Postaxial hand polydactyly, Widow's peak, Anterior basal encephalocele, Pecto... |
OMIM:136760 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, Premature loss of teeth, Abnormal met... |
OMIM:224300 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Triangular mouth, Flattened epiphysis, Pe... |
OMIM:607131 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Hypoplasia of the ulna, Broad hallux, Disproportionate short stature, Short metatarsal, Limited e... |
ORPHA:1856 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered finger, Periorbital der... |
OMIM:615560 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Renal insufficiency, Short stature, Abnormal morphology of ulna,... |
ORPHA:1307 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Blepharophimosis, Meningocele, Renal cyst, Clinodactyly of the 5th ... |
ORPHA:2031 |
Ulnar Hypoplasia With Mental Retardation |
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Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus, Absent fingernail, Limit... |
OMIM:276821 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, P... |
OMIM:619489 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow |
ORPHA:209908 |
Meier-Gorlin Syndrome 1 |
|
Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger syndactyly, High pa... |
OMIM:224690 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Epicanthus, Broad hallux, Single transverse palmar crease... |
OMIM:614105 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Elbow... |
OMIM:617468 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Microtriplication 11Q24.1 |
|
Metatarsus adductus, Synophrys, Small hand, Genu valgum, Short foot, Upslanted palpebral fissure,... |
ORPHA:289522 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border... |
ORPHA:544254 |
Erythema Of Acral Regions |
|
Erythema, Talipes equinovarus |
OMIM:227000 |
Arthrogryposis, Distal, Type 2E |
|
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus |
OMIM:121070 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Phocomelia, Sparse ha... |
OMIM:268300 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Abnormal renal morphology, Hypoplasia of the r... |
OMIM:609053 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit, Ankyloblepharon |
ORPHA:1072 |
Mullerian Aplasia And Hyperandrogenism |
|
Hirsutism, Unilateral renal agenesis |
OMIM:158330 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Ptosis, Short stature, Symphalangism affecting the phalanges of... |
ORPHA:710 |
Hartsfield Syndrome |
|
Telecanthus, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, I... |
ORPHA:2117 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Finger syndactyly, Preauricular pit, Short stature, Hypospadias, Bilateral singl... |
ORPHA:1786 |
Nescav Syndrome |
|
Talipes equinovarus |
OMIM:614255 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Intestinal malrotation, Short hallux, Unilateral renal agenesis, Postn... |
OMIM:620305 |
Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Almond-shaped palpebral fissure, Long eyelashes, Prominent fingerti... |
OMIM:617682 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Noonan Syndrome 13 |
|
Duplicated collecting system, Pes planus, Ptosis, Epicanthus, Overlapping toe, Highly arched eyeb... |
OMIM:619087 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Short metatarsal, Oligodontia, High palate, Prominent U wave, Short palm, Clinod... |
OMIM:170390 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Ankle flex... |
ORPHA:464311 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Metaphyseal widening, Coxa vara, Ante... |
OMIM:255800 |
Bohring-Opitz Syndrome |
|
Vesicoureteral reflux, Dislocated radial head, Syndactyly, Short stature, Cleft upper lip, Tapere... |
OMIM:605039 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Limited elbow extension, Clef... |
OMIM:614078 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Zechi-Ceide Syndrome |
|
Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Narrow palpebral fissure, Oligodonti... |
OMIM:612916 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis, Absent thumb |
OMIM:619239 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Ptosis, Telecanthus, Hypospadias, Redundant neck skin, Proximal placement of thumb, P... |
OMIM:217980 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Cleft palate, Short long ... |
OMIM:200610 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Sparse hair, Microphthalmia, Micropenis |
OMIM:610756 |
C Syndrome |
|
Micromelia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Short metacarpal... |
OMIM:211750 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Hypoplastic toenails, Renal hypoplasia, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Upslanted palpebral fissure, Epiphyseal stippling, Epicanthus inversus, Renal cyst |
OMIM:614862 |
Joubert Syndrome 40 |
|
Almond-shaped palpebral fissure, Postaxial polydactyly |
OMIM:619582 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Epicanthus, Hypospadias, Short toe, Talipes equinovarus, Downslanted palpebral fissures, Aplasia/... |
ORPHA:98791 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Gingivitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Per... |
ORPHA:2908 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Non-midline cleft lip, Cleft palate, Orofacial clef... |
ORPHA:1752 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia |
OMIM:120433 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Patent ductus arteriosus, ... |
ORPHA:171839 |
Leopard Syndrome 1 |
|
Scapular winging, Epicanthus, Short stature, Hypospadias, Unilateral renal agenesis, Limited elbo... |
OMIM:151100 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, High, narrow palate, Submucous cleft hard palate, High ili... |
ORPHA:2780 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chondromatosis of radius, Short p... |
ORPHA:99646 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a... |
OMIM:173800 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Epicanthus, Coxa valga, Abnormality of the elbow, Flat acetabular roof, Oligosacchariduria, Hemia... |
ORPHA:163649 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Epicanthus, High anterior hair... |
OMIM:615546 |
Achondrogenesis Type 1B |
|
Micromelia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Talipes equinovarus,... |
ORPHA:93298 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Ptosis, Telecanthus, Redundant neck skin, Hypospadias, Proximal placement of thumb, Supernumerary... |
OMIM:604314 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Hypospadias, Camptodactyly of finger, Short th... |
ORPHA:2311 |
Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Pallister-Hall-Like Syndrome |
|
Median cleft lip, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Hip disl... |
OMIM:241800 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus |
OMIM:208100 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Preauricular pit, Submucous cleft hard palate, Preauricular sk... |
OMIM:609166 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Epicanthus, Short stature, Abnormality of the hand, Clinodactyly, Downturned corners ... |
ORPHA:369891 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Epicanthus, Short hallux, Supernumerary... |
ORPHA:3224 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ... |
OMIM:147891 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Pai Syndrome |
|
Skin tags, Telecanthus, Median cleft lip, Subcutaneous nodule, Cleft palate, Abnormal oral frenul... |
ORPHA:1993 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Epicanthus, Hypospadias, Abnormality of the kidney, Single transver... |
OMIM:123450 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Toe syndactyly, Patent ductus arteriosus, Short foot, Hand poly... |
ORPHA:250989 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Downturned corners of mouth, High palate, Intercrural pterygium, Camptodactyly of toe, Pterygium,... |
OMIM:265000 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Pectus... |
OMIM:303600 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Ptosis, Short stature, Single transverse pal... |
OMIM:305400 |
Atelosteogenesis Type I |
|
Telecanthus, Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, ... |
ORPHA:1190 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral reflux, Micropenis, Short pha... |
OMIM:616894 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Renal cyst, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Micro... |
OMIM:613610 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification,... |
OMIM:114290 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Urethr... |
ORPHA:1896 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Abnormality of the nail, Finger syndacty... |
ORPHA:2092 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Rocker bottom foot, Spina bifida, Micromelia, Elbow disloca... |
ORPHA:99776 |
Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... |
OMIM:114150 |
Diaphanospondylodysostosis |
|
Epicanthus, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Narrow pelvis bone, Hammerto... |
OMIM:608022 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Momo Syndrome |
|
Epicanthus, Large hands, Eyelid coloboma, Short sternum, Downslanted palpebral fissures |
OMIM:157980 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Pes planus, Epicanthus, Hypospadias, Highly arched eyebrow, Tapered finger, Abnorm... |
ORPHA:261311 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Intestinal malrotation, Abnormal rib morphology, Abnorma... |
ORPHA:3035 |
Branchioskeletogenital Syndrome |
|
Upper limb peromelia, Synophrys, Anteriorly placed anus, Downturned corners of mouth, Eyelid colo... |
ORPHA:1299 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Pes planus, Epicanthus, Single transverse palmar crease, Low anterior hairline, Upslanted palpebr... |
OMIM:613544 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Congestive heart failure, Tibial bowing, Bell... |
OMIM:166210 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hip dis... |
OMIM:613330 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Femoral bowing, Abnormal shoulder morphology, ... |
OMIM:274000 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus |
OMIM:616171 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Epicanthus, Tapered finger, Submucous cleft hard palate, Enuresis noctu... |
OMIM:619680 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Growth delay, Stomatitis, Intrau... |
ORPHA:79284 |
Kinsship Syndrome |
|
Single transverse palmar crease, Synophrys, Downturned corners of mouth, Short philtrum, Widely s... |
OMIM:619297 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Skin tags, Median cleft lip, High palate, Downslanted palpebral fissures, Bifid uvula |
OMIM:155145 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Hip dislocation, Talipes equinovarus, Micrognathia |
OMIM:618651 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, 2-3 finger syn... |
ORPHA:2437 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Recurrent urinary tract infections, Sacral dimple, Short stature, Cleft soft palat... |
ORPHA:268261 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Cleft ... |
OMIM:601701 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, High palate, Abnormal morphology of ulna, Abnormal eyelash morphology, Sparse or ... |
ORPHA:1340 |
Penoscrotal Transposition |
|
Epicanthus, Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, P... |
ORPHA:2842 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fi... |
OMIM:305450 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Epicanthus, Telecanthus, Patent ductus arteriosus, Renal cyst, Upslanted palpebral fi... |
OMIM:617260 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Palpebral edema, Single transverse palmar crease, Metatarsus adductus, Upslanted palp... |
OMIM:214110 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Deep palmar crease, Shor... |
ORPHA:293725 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Thin ribs, High palate, Micropenis, Penile hypospadias, Penoscrotal hyposp... |
ORPHA:456328 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Polycystic kidney dysplasia |
OMIM:614859 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Synophrys, Abnormality of the... |
ORPHA:3253 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Hypoplastic ilia, Patellar apla... |
ORPHA:85201 |
Masa Syndrome |
|
Pes cavus, Talipes equinovarus, Adducted thumb |
OMIM:303350 |
2P15P16.1 Microdeletion Syndrome |
|
Pes planus, Multicystic kidney dysplasia, Ptosis, Sandal gap, Optic nerve hypoplasia, Camptodacty... |
ORPHA:261349 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Redundant skin, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism affect... |
ORPHA:2658 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio... |
OMIM:605432 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Single transverse palm... |
OMIM:210600 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Redundant skin, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciati... |
OMIM:250220 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Synophrys, Broad palm, Broad n... |
OMIM:300280 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Telecanthus, Camptodactyly of finger, Blepharophimosis, Synophrys, Hypopigmente... |
OMIM:148820 |
Intellectual Disability-Strabismus Syndrome |
|
Epicanthus, Telecanthus, Hypospadias, Rocker bottom foot, Highly arched eyebrow, Patent ductus ar... |
ORPHA:363528 |
Hyperekplexia 4 |
|
Umbilical hernia, Adducted thumb, Talipes equinovarus, Camptodactyly |
OMIM:618011 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing,... |
OMIM:180849 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Microphthalmia, Ptosis |
ORPHA:1473 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnorma... |
OMIM:256050 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Intern... |
OMIM:619503 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Sparse scalp hair, Overlapping fingers, Hypospadias, Single transverse palmar ... |
ORPHA:464738 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Finger clinodactyl... |
ORPHA:306542 |
Acrorenal-Mandibular Syndrome |
|
High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe syndactyly, Hypopl... |
OMIM:200980 |
Multiple Pterygium Syndrome, X-Linked |
|
Epicanthus, Multiple pterygia, Cleft upper lip, Cleft palate, Thin ribs, Short finger |
OMIM:312150 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hypoplastic il... |
OMIM:611717 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Hyperhidrosis, Cutaneo... |
OMIM:101200 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali... |
ORPHA:1326 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Single transverse palmar crease, Proximal placement of thumb, Limited elbow moveme... |
OMIM:610759 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Narrow palate, Femoral bowing, Macroglossia, Short long ... |
OMIM:617022 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Be... |
OMIM:200600 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Microphthalmia, Epicanthus |
ORPHA:2528 |
Carey-Fineman-Ziter Syndrome |
|
Ptosis, Epicanthus, Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Aplas... |
ORPHA:1358 |
Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Clinodactyly, Clinodactyly of the 5th finger, Finger syndactyly, Ab... |
ORPHA:2710 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, High palate, Clinodactyl... |
ORPHA:570 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Renal agenesis, Aganglionic megacolon, Foot polydactyly |
ORPHA:2155 |
Chikungunya |
|
Abnormal bleeding, Macule, Epistaxis, Raynaud phenomenon, Erythema, Gingival bleeding, Skin vesic... |
ORPHA:324625 |
Cranioectodermal Dysplasia 4 |
|
Epicanthus, Short stature, Stage 5 chronic kidney disease, Cutis laxa, Hip dysplasia, Thin vermil... |
OMIM:614378 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... |
OMIM:250420 |
Retinitis Pigmentosa 51 |
|
Pallor, Polydactyly, Abnormality of the kidney |
OMIM:613464 |
Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Telecanthus, Tented upper lip vermilion, Overlapping toe, Tap... |
OMIM:618975 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation... |
OMIM:108721 |
Cohen Syndrome |
|
Abnormal eyelid morphology, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, ... |
ORPHA:193 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Hypertrichosis, Facial hypertrichosis, Microphthalmia, Ptosis |
OMIM:600118 |
Temtamy Syndrome |
|
Pes planus, Telecanthus, Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, B... |
ORPHA:1777 |
Laurence-Moon Syndrome |
|
Abnormality of the hand, Micropenis, Polydactyly, Short stature |
OMIM:245800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Single transverse palmar crease, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Knee flexion contracture, Upslanted palpebral fissure, Long palpebral fis... |
OMIM:619694 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
Acromelic Frontonasal Dysplasia |
|
Telecanthus, Median cleft lip, Patellar hypoplasia, Dermoid cyst, Wide mouth, Talipes equinovarus... |
ORPHA:1827 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Patchy alopecia, Talipes equinovarus, Short palm, Clinod... |
ORPHA:85279 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease, Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Postaxial polydactyly |
OMIM:213010 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin... |
ORPHA:235 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micropenis, Humeroradial synostosis, Rib fusion,... |
OMIM:134780 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnorma... |
ORPHA:1834 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Epicanthus, Hypospadias, Multiple pterygia, Hypoplastic nipples, Talipes equinovarus, Pterygium |
OMIM:177980 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Synophrys, Clinodactyly of the 5th finger, Caudal a... |
OMIM:257920 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Duplication of phalanx of hallux, Lo... |
OMIM:243310 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Ptosis, Patchy hypopigmentation of hair, Optic disc hypoplasia, ... |
ORPHA:233 |
Enlarged Parietal Foramina |
|
Cleft lip, Cleft palate, Short clavicles, Aplasia cutis congenita of scalp, Broad thumb |
ORPHA:60015 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Numerous nevi, Deep philtrum, Pectus carinatum, Hyperhid... |
OMIM:115150 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Long thorax... |
OMIM:619142 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, Synophr... |
OMIM:122470 |
Rahman Syndrome |
|
Telecanthus, Redundant skin, Talipes equinovarus, Camptodactyly, High anterior hairline |
OMIM:617537 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... |
OMIM:223800 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Cleft upper lip, Synophrys, Rib fusion, Cleft palate, Broad philtrum, Wide mouth, Nar... |
ORPHA:1394 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Tapered finger, Sparse eyebrow, Long palpebral fissure, Clinodactyl... |
OMIM:618829 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Epicanthus, Hypospadias, Abnormal foot morphology, Renal hypoplasia, Cut... |
OMIM:601390 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:615035 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Short tubular bones of the hand, Coxa valga, Abnormal diaphysis morphology, Overtubulated long bo... |
ORPHA:85184 |
Phaver Syndrome |
|
Broad hallux phalanx, Epicanthus, Camptodactyly of finger, Short thumb, Abnormal rib morphology, ... |
ORPHA:2876 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open ... |
OMIM:619698 |
49,Xxxxy Syndrome |
|
Pes planus, Hypoplasia of penis, Epicanthus, Down-sloping shoulders, Renal hypoplasia/aplasia, El... |
ORPHA:96264 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Abnormal eyelid m... |
ORPHA:1812 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232200 |
Kbg Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Epispadias, Synophrys, Widely-spaced... |
OMIM:148050 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Hypospadias, Ventricular septal defect, Short ... |
ORPHA:2438 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Epicanthus, Short hallux, Coxa valga, Curly eyelashes, W... |
ORPHA:1517 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Short palm |
ORPHA:85172 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow ch... |
ORPHA:175 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Talipes equinovarus, Rhizomelia, Phalangeal dislocation |
ORPHA:85174 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypospadias, Short stature, Aganglionic megacolon, Sparse eyebrow, Cleft palat... |
ORPHA:66629 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Arthrogryposis, Distal, Type 5D |
|
Ptosis, Tongue atrophy, Congenital hip dislocation, Short stature, Limited elbow movement, Highly... |
OMIM:615065 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Rauch-Steindl Syndrome |
|
Epicanthus, Telecanthus, Short stature, Sacral dimple, Highly arched eyebrow, Postnatal growth re... |
OMIM:619695 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Dry hair, Unilateral renal agenesis, Renal ... |
ORPHA:90324 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Telecanthus, Palpebral edema, Patent ductus arteriosus, Oligosacchariduria, Talipes equinovarus, ... |
ORPHA:397709 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, A... |
ORPHA:568 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Epicanthus, Finger clinodactyly, Talipes equinovarus, Clinodactyly of the 3rd toe, Bilateral coxa... |
OMIM:611182 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephr... |
OMIM:617303 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact... |
ORPHA:3103 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Optic nerve hypoplasia, Renal hypoplasia, Genu valgum, Micropenis |
OMIM:619321 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome... |
ORPHA:93929 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Abnormal foot morphology, Micropenis, Cutaneous syndactyly, Upslanted palpebral ... |
OMIM:617822 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... |
OMIM:619148 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney... |
ORPHA:887 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Proteinuria |
ORPHA:247691 |
2Q31.1 Microdeletion Syndrome |
|
Deep philtrum, Abnormal tibia morphology, Synophrys, Downturned corners of mouth, Short palm, Cli... |
ORPHA:251014 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Upslanted palpebral fissure, Widely spaced teeth, Clinodactyly |
OMIM:619092 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Preauricular skin tag, Radial club hand, Cleft palate, Short philtrum, ... |
ORPHA:3305 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Elbow flexion contract... |
ORPHA:1145 |
Myopathic Ehlers-Danlos Syndrome |
|
Pes planus, Foot joint contracture, Shoulder flexion contracture, Ankle flexion contracture, Tape... |
ORPHA:536516 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Syndactyly, Short stature, Pallor |
OMIM:615631 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Hamartoma of ... |
OMIM:269860 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... |
OMIM:614922 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Distal lower limb muscle weakness, Urinary incontinence |
OMIM:615284 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Hip dislocation, Talipes equinovarus |
OMIM:616756 |
Hamamy Syndrome |
|
High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tapered finger, Sparse eyebrow... |
OMIM:611174 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Renal dysplasia, Low posterior hairline, Ectopic kidney |
ORPHA:2578 |
48,Xxxy Syndrome |
|
Pes planus, Hypoplasia of penis, Epicanthus, Down-sloping shoulders, Coxa valga, Elbow dislocatio... |
ORPHA:96263 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Advanced ossificati... |
OMIM:224400 |
49,Xxxyy Syndrome |
|
Epicanthus, Finger clinodactyly, Bilateral talipes equinovarus, Micropenis, Abnormal plantar derm... |
ORPHA:261534 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Vesicoureteral reflux, Cli... |
OMIM:616580 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Femoral bowing, Stillbirth, Talipes equinovarus, Cystic renal dysplasia, Enlarged ... |
OMIM:615415 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Almond-shaped palpebral fissure, Epiblepharon, Submucous cleft hard palate, Thick lo... |
OMIM:619103 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Hypospadias, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger m... |
ORPHA:436003 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Epicanthus, Telecanthus, Short stature, Redundant skin, Frontal open bite, Postnatal growth retar... |
OMIM:225410 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Postaxial hand polydactyly, Anencephaly, Renal cyst, Horseshoe kidney, P... |
OMIM:612284 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Epicanthus, Exaggerated cupid's bow, Cleft palate, Downturned corne... |
OMIM:614230 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ap... |
ORPHA:2538 |
Tukel Syndrome |
|
Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap... |
OMIM:609428 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Talipes equinovarus |
OMIM:601382 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Vesicoureteral reflux, Cleft ... |
ORPHA:96061 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney diseas... |
OMIM:208500 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Broad eyebrow, Smooth philtrum, Ulnar deviation of the hand, Proxi... |
OMIM:620113 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Downslanted palpebral fi... |
ORPHA:2053 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Epicanthus, Congenital hip dislocation, Absent nipple, Cubitus valgus, Patent ductus ... |
OMIM:104350 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly, Sparse hair, Microp... |
OMIM:616449 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformity, Low ante... |
OMIM:609128 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Telecanthus, Narrow mouth |
OMIM:245552 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Flexion contracture of finger, Bilateral talipes equinovarus, Hand clenching, Congenital knee dis... |
ORPHA:319332 |
Temtamy Syndrome |
|
Pes planus, Highly arched eyebrow, Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphth... |
OMIM:218340 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Tetralogy of Fallo... |
OMIM:612561 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Cleft hard pal... |
OMIM:300990 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Talipes equinovarus |
OMIM:611067 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Calcaneovalgus deformity, High palate, Micropenis, Arachnodactyly, Short sta... |
OMIM:612513 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Femoral bowing, Tibial bowing, Hyperhidrosis, Smooth tongue, Sho... |
OMIM:601559 |
Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Dental crowding... |
OMIM:101600 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Tarp Syndrome |
|
Finger syndactyly, Thick eyebrow, Rocker bottom foot, Postaxial polydactyly, Single transverse pa... |
ORPHA:2886 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C... |
OMIM:601680 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... |
OMIM:210720 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, High, narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger... |
ORPHA:96182 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Talipes equinovarus, Upper limb amyotrophy, Knee flexion... |
ORPHA:496689 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Short thorax, Short foot, Narrow chest, Short palm, Long phil... |
ORPHA:93299 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short metatarsal, Renal cyst, Nephronophthisis, Clinodactyly of the 5th fin... |
OMIM:266920 |
Charge Syndrome |
|
Ptosis, Epicanthus, Anophthalmia, Talipes, Highly arched eyebrow, Patent ductus arteriosus, Abnor... |
ORPHA:138 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Abnormal foot mor... |
ORPHA:99948 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Few cafe-au-lait spots, Dental crowding, Single transverse palmar crease, Protruding tongue, Subm... |
OMIM:618106 |
Becker Nevus Syndrome |
|
Hypermelanotic macule, Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper... |
ORPHA:64755 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Proximal placement of thumb, Blepharophimosis, Low anterior hairline, Upslanted palpe... |
OMIM:617883 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Absent thumb, Short ... |
OMIM:227650 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, S... |
ORPHA:1433 |
Kabuki Syndrome 2 |
|
Natal tooth, Epicanthus, Short stature, Highly arched eyebrow, Postnatal growth retardation, Lowe... |
OMIM:300867 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Postaxial polydactyly, High... |
OMIM:618460 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, High, narrow palate, Abnormality of the gingiva, Epispadias, Nae... |
ORPHA:3107 |
Occipital Horn Syndrome |
|
Redundant skin, Pectus carinatum, High palate, Narrow chest, Broad ribs, Pelvic bone exostoses, H... |
OMIM:304150 |
Giant Axonal Neuropathy |
|
Abnormal hand morphology, Genu valgum, Talipes equinovarus, Woolly hair, Pes cavus, Abnormality o... |
ORPHA:643 |
Bruck Syndrome 2 |
|
Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Talipes equinovarus, Hydroxy... |
OMIM:609220 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Ankyloblepharon, Popliteal pt... |
OMIM:619339 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Cleft palate, Intrauterine growth retardation, Downslanted palpebral fis... |
OMIM:220210 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus |
OMIM:604563 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Brachydactyly, Short foot, Talipes calcaneovarus, Large hands, Patchy alopecia, Upslanted palpebr... |
OMIM:300534 |
15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Tapered finger, Camptodactyl... |
DECIPHER:81 |
Arthrogryposis Multiplex Congenita 5 |
|
Ptosis, Rocker bottom foot, Hip dislocation, Elbow flexion contracture, Upslanted palpebral fissu... |
OMIM:618947 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Anemic pallor, Ectopic kidney, Absent thumb, Short ... |
OMIM:600901 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Broad hallux, Slender finger, Dacryocystitis, Small hand, Tibial bowing,... |
ORPHA:251028 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, High, narrow palate, Vesicoureteral reflux, Microdontia, Renal duplication,... |
ORPHA:96169 |
Chronic Graft Versus Host Disease |
|
Phimosis, Urinary bladder inflammation, Esophageal stricture, Erythema, Xerostomia, Intermittent ... |
ORPHA:99921 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Absent eyelashes, Abnormal hair morphology... |
ORPHA:861 |
Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Severe short stature, Short stature, Growth delay, Thin ve... |
ORPHA:3255 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Ptosis, Short stature, Camptodactyly of finger, Narrow palate, Abnormal hip bo... |
ORPHA:1323 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Renal dysplasia, Postaxial polydactyly |
OMIM:615985 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con... |
ORPHA:1154 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Irregular capital femoral ep... |
OMIM:616716 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Widened atrophic scar, Redundant skin, Equinus calcaneus, Shoulder dislocatio... |
ORPHA:536532 |
Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Waardenburg Syndrome Type 3 |
|
Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Abnormal finger morphology, Cut... |
ORPHA:896 |
Warsaw Breakage Syndrome |
|
Epicanthus, Single transverse palmar crease, Hypermelanotic macule, Postnatal growth retardation,... |
OMIM:613398 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Epicanthus, Proteinuria, Hypoplasia of the iris... |
OMIM:251300 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Epicanthus, Ectopic kidney, Small hand, Hirsutism, Horseshoe kidney, Short foot, Join... |
OMIM:235510 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Synophrys, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short metac... |
OMIM:619636 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Epicanthus, Telecanthus, Hypermelanotic macule, Abnormality of the dentition, Broad p... |
OMIM:618505 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Atrial septal defect, Brachydactyly, Mesoaxial foot polydactyly, Overlappi... |
OMIM:612474 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney, Radial dysplasia, Absent thumb |
OMIM:617244 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Long eyelashes, Short stature, Thick eyebrow |
ORPHA:1514 |
Congenital Disorder Of Glycosylation, Type Id |
|
Epicanthus, Long fingers, Talipes equinovarus, Small nail, Nail dysplasia, Clinodactyly, Joint co... |
OMIM:601110 |
Acrocraniofacial Dysostosis |
|
Preauricular pit, Ptosis, Telecanthus, Short stature, Tapered finger, Coxa valga, Cleft palate, U... |
ORPHA:949 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Abnormal... |
ORPHA:582 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Epicanthus, Long foot, Abnormal thumb morphology... |
ORPHA:500095 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Hypoplasia of the primary teeth, Short stature, 4-5 finger syndactyly, Hypoplasi... |
OMIM:257850 |
Mend Syndrome |
|
Crossed fused renal ectopia, Redundant neck skin, Broad hallux, Overlapping toe, Sacral dimple, L... |
OMIM:300960 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Short stature, Intestinal malrotation, Hypospadias, Postn... |
ORPHA:7 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Highly ... |
ORPHA:505237 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Hajdu-Cheney Syndrome |
|
Thick eyebrow, Epicanthus, Hypospadias, Short nail, Telecanthus, Patent ductus arteriosus, Synoph... |
OMIM:102500 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, High palate, Sparse eyebrow,... |
OMIM:234100 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Arthrogryposis, Distal, Type 5 |
|
Epicanthus, Arachnodactyly, Decreased palmar creases, Limited wrist extension, Blepharophimosis, ... |
OMIM:108145 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Synophrys, Ab... |
ORPHA:2463 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Schwartz-Jampel Syndrome |
|
Micromelia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Pursed lips, Sup... |
ORPHA:800 |
Hydrolethalus |
|
Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft palate... |
ORPHA:2189 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomerular filtration... |
OMIM:232220 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand poly... |
OMIM:617088 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, T... |
ORPHA:163966 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Micromelia, High, narrow palate, Hypoplasia of the radius, Abnormal... |
ORPHA:3015 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Telecanthus, Arachnodactyly, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, D... |
OMIM:615539 |
Multiple Pterygium Syndrome, Lethal Type |
|
Epicanthus, Multiple pterygia, Cleft palate, Thin ribs, Short finger |
OMIM:253290 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Downslanted palpebral fissures, Preaxial polydactyly |
ORPHA:163681 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, 1-4 toe syndactyly, 4-5 fing... |
OMIM:617201 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:620024 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abno... |
ORPHA:107 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Upper eyelid coloboma, Cleft p... |
OMIM:154500 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Short stature, Small hand, Narrow palm, Multiple cafe-au-lait spots, Clinodactyly |
ORPHA:1445 |
Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Duplication of thumb phalan... |
OMIM:601707 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal du... |
OMIM:227646 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro... |
OMIM:151210 |
Congenital Myopathy 20 |
|
Scapular winging, Ulnar deviation of the hand, Epicanthus, Toe joint contracture, Hip dislocation... |
OMIM:620310 |
Cofs Syndrome |
|
Talipes, Microphthalmia, Camptodactyly of finger |
ORPHA:1466 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Short stature, Synophrys, Thick lower lip vermilion, Cutaneous finger syndactyly, Blepharophimosi... |
OMIM:210745 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Talipes equinovarus |
OMIM:613710 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Paten... |
OMIM:244300 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Beaded ribs, Pectus excavatum, Pectus carinatum, Dentinogenesis imperfecta |
OMIM:259440 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... |
OMIM:602200 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Bladder dive... |
OMIM:617821 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bilateral single transverse palmar creases, Proximal placement of thumb,... |
ORPHA:1120 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm... |
ORPHA:2911 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Hypospadias, Blepharophimosis, Hip dysplasia, Vesicoureteral reflux, Microphthalmia, ... |
ORPHA:494344 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Supernume... |
ORPHA:3474 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Diamond-Blackfan Anemia |
|
Epicanthus, Hypospadias, Cleft soft palate, Absent thumb, Short thumb, Partial duplication of thu... |
ORPHA:124 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Renal dysplasia, Sacral dimple, Short stature, Postaxial polydactyly, Abnormalit... |
OMIM:300968 |
Monosomy 9P |
|
Epicanthus, Hypospadias, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the t... |
ORPHA:261112 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Patent ductus arteriosus, 2-3 toe cutane... |
OMIM:618454 |
Scarf Syndrome |
|
Epicanthus, Pectus carinatum, Perineal hypospadias, Cutis laxa, Short sternum, Hypocalcification ... |
ORPHA:3134 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Sparse eyelashes, Cleft upper lip, Conical tooth, Absent e... |
OMIM:106260 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Renal hypoplasia/aplasia, Microphthalmia, Downslanted palpebral fissures |
ORPHA:1438 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Preauricular pit, Thin upper lip vermilion, Ptosis, Epicanthus, Short stature, Intestinal malrota... |
ORPHA:457193 |
Cockayne Syndrome |
|
Urinary incontinence, Abnormal dental morphology, Renal hypoplasia, Agenesis of permanent teeth, ... |
ORPHA:191 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia |
OMIM:211890 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Epicanthus, Renal agenesis, Anemic pallor, Ectopic kidney, Absent t... |
OMIM:227645 |
Kleefstra Syndrome 1 |
|
Hypospadias, Single transverse palmar crease, Synophrys, Abnormal renal morphology, Upslanted pal... |
OMIM:610253 |
Neuromuscular Oculoauditory Syndrome |
|
Epicanthus, Knee flexion contracture, Calf muscle hypertrophy, Multiple renal cysts, Talipes equi... |
OMIM:618733 |
Ogden Syndrome |
|
Microretrognathia, Global glomerulosclerosis, Atrial septal defect, Congenital hip dislocation, S... |
OMIM:300855 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Urinary incontinence, Rocker bottom foot, Achilles... |
OMIM:301041 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Pes planus, Acetabular dysplasia, Genu recurvatum, Talipes equinovarus |
OMIM:614066 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Epicanthus, Single transverse palmar crease, Bilateral ptosis, En... |
OMIM:619743 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger |
OMIM:609813 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Prolonged bleeding time, Rhi... |
OMIM:616229 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Pes planus, Epicanthus, Long foot, Bowing of the legs, Long hallux, Renal cyst... |
OMIM:617107 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Epicanthus, Camptodactyly of finger, Abnormal metacarpal ... |
ORPHA:284160 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue,... |
ORPHA:989 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Telecanthus, Single transverse palmar crease, Abnormality of the kidney, Highly arched eyebrow, A... |
ORPHA:495818 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease, Talipes calcaneovalgus |
OMIM:600251 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate, Flaring of r... |
OMIM:271640 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Pes planus, Epicanthus, Single transverse palmar crease, Supernumerary nipple, Sparse eyebrow, Sy... |
OMIM:620098 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 finger syndact... |
OMIM:603467 |
Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Ureteral stenosis, Hypoplastic scapulae, Coxa valga, Flared metaphysis... |
OMIM:309350 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Ante... |
ORPHA:1488 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Overtubulated long bones, Scaling skin, Hypospadias, Absent eyelashes, Spar... |
OMIM:275210 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Epicanthus, Hypospadias, Renal hypoplasia, Talipes equinovarus, Camptodactyly, Blepha... |
ORPHA:314679 |
Chromosome 18Q Deletion Syndrome |
|
Pes planus, Epicanthus, Toe syndactyly, Hypospadias, Rocker bottom foot, Proximal placement of th... |
OMIM:601808 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Ptosis, Telecanthus, Tented upper lip vermilion, Deep philtrum, Polydactyly, High palate, Downsla... |
ORPHA:314655 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Aplasia/Hypoplasia of the skin, ... |
ORPHA:1556 |
Meier-Gorlin Syndrome 5 |
|
Elbow dislocation, Irregular femoral epiphysis, Submucous cleft hard palate, Patellar aplasia, Mi... |
OMIM:613805 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Sacral dimple, Single transverse... |
OMIM:247200 |
Oculoectodermal Syndrome |
|
Epicanthus, Supernumerary nipple, Lower limb asymmetry, Patent ductus arteriosus, Eyelid coloboma... |
OMIM:600268 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Talipes equinovarus |
OMIM:614399 |
Pontocerebellar Hypoplasia, Type 12 |
|
Talipes equinovarus, Overlapping fingers, Rocker bottom foot |
OMIM:618266 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Overlapping ... |
OMIM:618316 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Rhizomelia, Mi... |
OMIM:613848 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly... |
OMIM:615989 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Downturned corners of mouth, Short philtrum, Aplasia cutis congenita of ... |
ORPHA:280 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Ankyloblepharon, Cleft palate, Hypohidrosis, Dry skin, Agene... |
ORPHA:1401 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Odontogenic keratocysts of the jaw, Pectus excavatum, Palm... |
ORPHA:77301 |
Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... |
OMIM:276700 |
Renal Hypodysplasia/Aplasia 1 |
|
Talipes equinovarus, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Abnormality of the kidney, Hypoplastic toenails, Patent ductus arter... |
OMIM:606232 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture of finger, Elbow flexion contracture, Camptodactyly, Bilateral talipes equino... |
OMIM:617194 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Carious teeth, Elbow dislocation, Abnormal rib morphology, Bifid... |
ORPHA:2769 |
Distal Triplication 15Q |
|
Telecanthus, Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Dilatation of t... |
ORPHA:314588 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anteriorly placed anus, Cutaneous finger syndactyly, Bro... |
OMIM:151050 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Abnormal foot morphology, Knee flexion contracture, Talipes equinovarus, Camptodactyly, Ptosis |
OMIM:618198 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Dry hair, Slow-growing hair, Epicanthus, Blepharophimosis, Cubitus valgus, 4-... |
OMIM:164200 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil... |
ORPHA:221120 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Abnormal finger morphology, Bilateral talipes equinovarus |
ORPHA:2560 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, High palate, Shallow orbits, Broad ribs, Broad metacarpals, Short metacarpal, L... |
OMIM:608328 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Single transverse palmar crease, Proximal plac... |
OMIM:229850 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl... |
ORPHA:261494 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Telecanthus, Hydroureter, Toe syndactyly, Single transverse palmar cre... |
OMIM:300707 |
Warburg Micro Syndrome 3 |
|
Blepharophimosis, Low anterior hairline, Ankle clonus, Clinodactyly of the 5th finger, Microphtha... |
OMIM:614222 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Po... |
OMIM:619879 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, ... |
ORPHA:1512 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bot... |
OMIM:214100 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Postaxial hand polydactyly, Downslanted palpebral fiss... |
ORPHA:2075 |
Native American Myopathy |
|
Bilateral ptosis, Cleft palate, Downturned corners of mouth, High palate, Talipes equinovarus, Ca... |
ORPHA:168572 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Dental crowding, Hypospadias, Single transverse palm... |
ORPHA:435938 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal renal... |
ORPHA:356961 |
Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Talipes, Abnor... |
ORPHA:974 |
Barber-Say Syndrome |
|
Redundant skin, High palate, Widely spaced teeth, Clinodactyly of the 5th finger, Sparse eyebrow,... |
OMIM:209885 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Telecanthus, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulop... |
OMIM:231680 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Elbow flexion contracture, Knee flexion contracture, Second metat... |
OMIM:214150 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
OMIM:600001 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, ... |
OMIM:264480 |
Ohdo Syndrome, X-Linked |
|
Epicanthus, Ulnar deviation of the hand, Overlapping toe, Sparse eyebrow, Short thumb, Long thumb... |
OMIM:300895 |
Charcot-Marie-Tooth Disease Type 4G |
|
Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscl... |
ORPHA:99953 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Pectus excavatum, Irregular femoral epiphysis, Submucous cleft hard palate, Pierr... |
OMIM:108300 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria,... |
OMIM:615398 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Broad lateral eyebrow, Epicanthus, Arachnodactyly, Proportionate short stature, Absent thumb, Uni... |
ORPHA:500150 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus |
OMIM:617255 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Pes planus, Epicanthus, Hypospadias, Tapered finger, Blepharophimosis, Long fingers, Synophrys, L... |
OMIM:616734 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hai... |
OMIM:234050 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Broad ribs, Bi... |
OMIM:300373 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Single transverse palmar crease, Low anterior hairline, Narrow palpebral fissure, Absen... |
OMIM:614219 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Abnormal pelv... |
ORPHA:1788 |
Restrictive Dermopathy |
|
Ureteral duplication, Scaling skin, Hypospadias, Sparse eyebrow, Sparse or absent eyelashes, Narr... |
ORPHA:1662 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Epicanthus, Short femur, Rhizomelia, Hypospadias, Sandal gap, Patent ductus arteri... |
OMIM:607143 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Epicanthus, Tricuspid regurgitation, Cleft soft palate, Cutis laxa, Bladder diverticulum, Mitral ... |
OMIM:614557 |
Bnar Syndrome |
|
Anal stenosis, Abnormal fifth toe morphology, Renal agenesis, Short lingual frenulum, Anteriorly ... |
ORPHA:217266 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Ptosis, Telecanthus, Arachnodactyly, Lateral clavicle hook, Pectus excavatum, Metaphyseal widenin... |
OMIM:182212 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Split ha... |
ORPHA:101097 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Down-sloping shoulders, Highly arched eyebrow, Tapered finger, Long eyelashes, T... |
OMIM:617452 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Grayish enamel... |
OMIM:253010 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Orofacial cleft, Downturned corners of mouth, Short philtrum, Ap... |
OMIM:194190 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Telecanthus, Broad hallux, Tapered finger, Short thumb, Low anterior hairline, Upslan... |
OMIM:620224 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal carpal morphology, Anteriorly placed anus, High palate,... |
ORPHA:1225 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Abnormal foot morphology, Postaxial hand polydactyly, Renal c... |
OMIM:608091 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Finger syndactyly, Sh... |
ORPHA:93932 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpholo... |
ORPHA:2363 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,... |
OMIM:193700 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Heart block, Anteriorly placed anus, High palate, Vesicou... |
OMIM:617063 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsa... |
OMIM:276820 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Abnormal shoulder morphology, Abnormal... |
ORPHA:2115 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short stature, Synophrys, Cleft palate, Short philtrum, Cubitus valgus, Thick eye... |
ORPHA:247768 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Abnormal palmar dermatoglyphics, Multiple bladder diverticula, Blepharophimosis, Mic... |
ORPHA:2728 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Arachnodactyly, Chronic kidney disease, L... |
ORPHA:261222 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Epicanthus, Congenital hip dislocation, Arachnodactyly, Protrusio ac... |
OMIM:225400 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Epicanthus, Sandal gap, Hypospadias, Synophrys, Cleft palate... |
ORPHA:254346 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Kagami-Ogata Syndrome |
|
Long clavicles, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax, Limb undergrowth, Pulmon... |
OMIM:608149 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormally large globe, Knee dislocation, Shoulder dislocation, Dislocated radial head, Rhizomeli... |
OMIM:245600 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Epicanthus, Hypospadias, Blepharophimosis, Patent ductus arteriosus, Widow's peak, Re... |
OMIM:616975 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Abnormality of the el... |
ORPHA:1005 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
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Long toe, Epicanthus, Talipes equinovarus, Long foot, Sparse lateral eyebrow |
OMIM:617788 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome... |
ORPHA:239 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Hypospadias, Lower limb asymmetry, Upper limb asymmetry, Umbilical hernia, Microphtha... |
ORPHA:2505 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equ... |
OMIM:201170 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Abnormal rib morphology, Micromelia |
ORPHA:2772 |
Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Syndactyly, Patent ductus arteriosus, Short finger |
OMIM:300049 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Ankyloglossia, Brachydactyly |
OMIM:602361 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus |
OMIM:607831 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Ulnar claw, Hammertoe, Pes cavus, Talipes equinovarus |
OMIM:608340 |
Joubert Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Postaxial hand polydactyly, Renal cyst, Occipital myelomeningo... |
OMIM:213300 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hip dislocation, Polycystic kidney dysplasia |
OMIM:608776 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Abnormality of the subungual region, Clubbing of fingers, Microphthalmi... |
ORPHA:335 |
Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Epicanthus, Severe short stature, Arachnodactyly, Rhizom... |
ORPHA:3379 |
3Mc Syndrome 2 |
|
Ptosis, Hypospadias, Limited elbow movement, Cleft upper lip, Postnatal growth retardation, Highl... |
OMIM:265050 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Ptosis, Epicanthus, Renal h... |
ORPHA:264200 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Cleft palate, Upslanted palpebral fissure, Thick vermilion border, T... |
ORPHA:250999 |
Grange Syndrome |
|
Syndactyly, Patent ductus arteriosus, Short palm |
ORPHA:79094 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia |
ORPHA:2470 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Naso... |
ORPHA:978 |
Wiedemann-Steiner Syndrome |
|
Synophrys, High palate, Clinodactyly of the 5th finger, Dilatation of renal calices, Rhizomelia, ... |
ORPHA:319182 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Squared iliac bones, Hypoplastic pubic bone, ... |
OMIM:258480 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Metaphyseal widening, Sparse hair, Sparse eyebrow, Split hand, Flat acetabular roof... |
OMIM:252500 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Tapered finger, Upslanted palpebral fissure, T... |
OMIM:618580 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, Contracture of th... |
ORPHA:83617 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Prominent floating ribs, Malabsorption |
OMIM:152800 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Cdags Syndrome |
|
Ectropion, Sparse eyelashes, Hypospadias, Rectourethral fistula, Sparse eyebrow, Cleft palate, Re... |
OMIM:603116 |
Dubowitz Syndrome |
|
Single transverse palmar crease, High palate, Clinodactyly of the 5th finger, Syndactyly, Short s... |
OMIM:223370 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
Trisomy 10P |
|
Thumb contracture, Epicanthus, Abnormality of the kidney, Abnormality of the hand, Abnormal foot ... |
ORPHA:171929 |
Developmental And Epileptic Encephalopathy 91 |
|
Talipes equinovarus, Single transverse palmar crease |
OMIM:617711 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Short stature, Cleft upper lip, Cleft palate, Micropenis, Tooth agenesis, Ectrodactyly, Delayed p... |
OMIM:147950 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Long-chain dic... |
OMIM:608836 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Elbow dislocation, ... |
ORPHA:2554 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Patent ductus arteriosus, Horseshoe kidney, Clinodactyly of the 5th ... |
ORPHA:65286 |
Congenital Myopathy 24 |
|
Scapular winging, Pes cavus, Talipes equinovarus |
OMIM:617336 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, High,... |
ORPHA:373 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly o... |
OMIM:619721 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Prema... |
ORPHA:1942 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Epicanthus, Postaxial polydactyly, Synophrys, Proximal renal tubular acidosis, Upslanted palpebra... |
OMIM:615824 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... |
OMIM:232240 |
Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Severe short stature, Telecanthus, Proximal placement of thumb, Sparse e... |
OMIM:615789 |
Trisomy 18 |
|
Epicanthus, Camptodactyly of finger, Esophageal atresia, Postaxial hand polydactyly, Non-midline ... |
ORPHA:3380 |
Frontofacionasal Dysplasia |
|
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... |
OMIM:229400 |
Mucopolysaccharidosis, Type Vii |
|
Thick eyebrow, Epicanthus, Heparan sulfate excretion in urine, Metatarsus adductus, Hirsutism, De... |
OMIM:253220 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Rhizomelia, Submucous cleft hard palate, Epiphyseal stippling, Abnormal pelvic gir... |
OMIM:222765 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Mucopolysaccharidosis, Type Iva |
|
Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Grayish enamel... |
OMIM:253000 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Long eyelashes, Camptodactyly of finger |
ORPHA:48431 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala... |
OMIM:609465 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs, High palate, Narrow iliac wing, Downslanted palpebral fissures, Dent... |
OMIM:616294 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Triangular shaped distal phalanges of the hand,... |
ORPHA:73230 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Talipes equinovarus, Ptosis |
OMIM:619465 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... |
ORPHA:2636 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... |
OMIM:271665 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Thick eyebrow, Telecanthus, Numerous nevi, Symblepharon, Abnormal rib morphology, Small hand, Sho... |
ORPHA:488434 |
Scarf Syndrome |
|
Barrel-shaped chest, Epicanthus, Pectus carinatum, Perineal hypospadias, Cutis laxa, Short sternu... |
OMIM:312830 |
Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Glandular hypospadias, Thin ribs, High palate, Micropenis, Penile hypospadias |
OMIM:300219 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Single transverse palmar crease, Patent ductus arterio... |
ORPHA:1596 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Ptosis |
OMIM:619972 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Sparse eyebrow, Abnormal eyelash morphology, Widow's peak, Bilat... |
ORPHA:2399 |
Acrofrontofacionasal Dysostosis 1 |
|
Ptosis, Short metacarpal, Long eyebrows, Cleft upper lip, Pectus excavatum, Cleft palate, Wide mo... |
OMIM:201180 |
Warburg Micro Syndrome 4 |
|
Low anterior hairline, Microphthalmia, Micropenis, Hirsutism, Ptosis |
OMIM:615663 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Urinary incontinence, Achilles tendon contracture, Elbow flexion co... |
OMIM:617114 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... |
OMIM:244460 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Knee f... |
OMIM:616266 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Missing ribs, Abnormal rib morphology, Orofacial cleft, Aplasia/Hyp... |
ORPHA:3301 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Skin nodule, Narrow philtrum, Palmoplantar hyperkeratos... |
OMIM:601812 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Desmosterolosis |
|
Epicanthus, Aplasia/Hypoplasia of the skin, Intestinal malrotation, Micromelia, Metatarsus adduct... |
ORPHA:35107 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology |
ORPHA:280195 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, ... |
ORPHA:818 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation |
OMIM:601163 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Pes cavus |
OMIM:278780 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum, ... |
ORPHA:96334 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Thoracolumbar kyphosis, Narrow greater sciatic notch, Short phalanx of fi... |
ORPHA:508533 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia ... |
ORPHA:364577 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... |
OMIM:615349 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Supernumerary nipple, Sparse eyebrow, 3-4 finger cutaneous syndactyly, Upslanted palp... |
OMIM:612530 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, Celiac disease, Abs... |
ORPHA:544488 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Bilateral talipes equinovarus, Talipes equinovarus, Adducted thumb |
OMIM:618484 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Congenital hip dislocation, Sparse eyelashes, Sparse scalp hair, Epican... |
OMIM:268400 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5... |
ORPHA:84 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Forearm undergrowt... |
OMIM:251230 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Tapered finger, Cleft lip, Synophrys, Limited elbow extension, Hip dislocation, Cleft... |
OMIM:301066 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Pes cavus, Talipes equinovarus, Ptosis |
ORPHA:101150 |
Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Microphthalmia, Ptosis |
OMIM:614583 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Epicanthus, Macrodontia, Abnormal dental enamel morphology, Short stature, Abnormality of the upp... |
ORPHA:2916 |
Oliver Syndrome |
|
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental malocclusion, Elbow flexio... |
ORPHA:2920 |
Weill-Marchesani Syndrome 1 |
|
Tooth malposition, Broad palm, Narrow palate, Mitral regurgitation, Pulmonic stenosis, Shallow or... |
OMIM:277600 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Deep philtrum, Dental ... |
OMIM:227330 |
Pontocerebellar Hypoplasia, Type 8 |
|
Synophrys, Long eyelashes, Talipes equinovarus, Talipes valgus, Pes cavus, Thick eyebrow, Hypertr... |
OMIM:614961 |
Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoe... |
ORPHA:59315 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Overlapping toe, Single transverse palmar crease, Tapered finger, Upslanted palpebral fissure, Hi... |
OMIM:617807 |
Cat Eye Syndrome |
|
Epicanthus, Renal agenesis, Absent radius, Patent ductus arteriosus, Horseshoe kidney, Downslante... |
OMIM:115470 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Subcutaneous nodule, Anteriorly placed anus, Triphalangeal t... |
ORPHA:857 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef... |
ORPHA:158687 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Redundant neck skin, Proximal femoral metaphyseal irregularity, Early ossification of capital fem... |
ORPHA:397715 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Angina pectoris, Camptodactyly of finger, Abnormality of the elbow,... |
ORPHA:93473 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t... |
OMIM:618291 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Wide mouth, Hand polydactyly, Foot poly... |
ORPHA:60040 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the ... |
ORPHA:96149 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Hip dislocation, High anterior hairline, Upslanted palpebral fissure... |
OMIM:314580 |
Meier-Gorlin Syndrome 3 |
|
Hypospadias, Sparse axillary hair, Aplasia/Hypoplasia of the patella, Sparse pubic hair, Patellar... |
OMIM:613803 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Camptodactyly, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
OMIM:617333 |
Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... |
ORPHA:391641 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Patent ductus art... |
OMIM:121050 |
Kabuki Syndrome |
|
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... |
ORPHA:2322 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Postaxial polydactyly, Postnatal growth retardation, Sparse eyebrow... |
OMIM:605627 |
X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Hypospadias, Overlapping toe, Abnormal hair whorl, Patent ductus arteriosu... |
ORPHA:163956 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Abnormal rib morphology, Abnorm... |
ORPHA:1666 |
Distal Deletion 3P |
|
Preauricular pit, Epicanthus, Telecanthus, Short stature, Sacral dimple, Blepharophimosis, Postax... |
ORPHA:1620 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Hip dislocation, Cutis laxa, Talipes equinovarus, Sparse hair, Umbili... |
OMIM:219150 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Pes planus, Curly hair, Areflexia of lower limbs, Talipes equinovarus, Hyporeflexia of lower limb... |
OMIM:256850 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Sparse hair, Highly arched eyebrow, ... |
OMIM:280000 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly |
OMIM:264180 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Epicanthus, Short stature, Micromelia, Non-mi... |
ORPHA:1908 |
Aspergillosis |
|
Dacryocystitis, Localized skin lesion, Abnormal rib morphology, Abnormal long bone morphology, In... |
ORPHA:1163 |
Campomelic Dysplasia |
|
Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ... |
ORPHA:140 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Narrow chest... |
OMIM:119600 |
Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn... |
OMIM:610017 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Pes cavus, Talipes equinovarus, Ptosis |
OMIM:255200 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Short stature, Abnormality of the dentition, Long penis, Gingival overgrowth, Fu... |
ORPHA:769 |
X Small Rings |
|
Thin upper lip vermilion, Epicanthus, Toe syndactyly, Tapered finger, Fetal pyelectasis, 2-3 toe ... |
ORPHA:96201 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Highly arched eyebrow, Submucous cleft soft palate, Pulmonary art... |
ORPHA:2282 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Downturned corners of mouth, Widely spaced te... |
OMIM:619539 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Hip d... |
OMIM:602471 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Monosomy 18P |
|
Alopecia, Brachydactyly, Epicanthus, Low posterior hairline, Microphthalmia, Ptosis |
ORPHA:1598 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn... |
OMIM:217085 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Low anterior hairline, Microphthalmia, Micropenis, Clinodactyly of the 4th toe, ... |
OMIM:614225 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Epicanthus, Renal cyst, Epiphyseal stippling |
OMIM:601539 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Short femoral neck... |
OMIM:618019 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Hypospadias, Single transverse palmar crease, Palpebral edema, Metatarsus adductus, R... |
OMIM:614866 |
8P11.2 Deletion Syndrome |
|
Preauricular pit, Epicanthus, Hypoplasia of penis, Sacral dimple, Upslanted palpebral fissure, Hi... |
ORPHA:251066 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Talipes equinovarus, Camptodactyly of finger, Urinary incontinence |
OMIM:604320 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
Alg12-Cdg |
|
Epicanthus, Ulnar deviation of the wrist, Hypospadias, Sandal gap, Proximal placement of thumb, R... |
ORPHA:79324 |
Culler-Jones Syndrome |
|
Cleft upper lip, Postaxial polydactyly, Cleft palate, Micropenis |
OMIM:615849 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Abnormal rib morphology, Abnormality of the humeroulnar joint |
ORPHA:2234 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Sparse eyelashes, Flaring of lower r... |
OMIM:250250 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hyperpigmented nevi and streak |
OMIM:149000 |
Split Cord Malformation |
|
Urinary incontinence, Functional abnormality of the bladder, Renal duplication, Hypospadias, Tuft... |
ORPHA:573278 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Thick lower lip vermilion, Genu valgum, Macroglossia, Mucopolysacchariduria... |
ORPHA:583 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Redundant neck skin, Patent ductus arteriosus, Microphthalmia, Abnormality of the pal... |
OMIM:618652 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Ureterocele, Vesicoureteral reflux, Micropenis, Sparse eyebrow, Split hand, Megacystis, Nail pits... |
OMIM:604292 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Non-midline cleft li... |
ORPHA:3376 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art... |
ORPHA:1112 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Single transverse p... |
OMIM:269150 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Encephalocele, Short metacarpa... |
OMIM:108720 |
Turnpenny-Fry Syndrome |
|
Numerous nevi, Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downturned co... |
OMIM:618371 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Ptosis |
OMIM:300915 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor... |
ORPHA:79404 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Radial club hand, Patent duc... |
OMIM:617053 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Tetraphocomelia, Hypoplasia of the calcaneus, Narrow chest, Short phalan... |
OMIM:215140 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Epicanthus, Abnormal foot morphology, 2-3 toe syndactyly, Bilateral talipes equinovarus, Neonatal... |
OMIM:618186 |
Aase-Smith Syndrome I |
|
Cleft palate, Talipes equinovarus, Open mouth, Slender finger, Ptosis |
OMIM:147800 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Blepharophimosis, Bilateral microphthalmos, Flared m... |
OMIM:610758 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Spl... |
OMIM:252600 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Abnormal rib morphology, Abnormality of the u... |
ORPHA:52 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia |
OMIM:184400 |
Septooptic Dysplasia |
|
Short stature, Polydactyly, Short finger |
OMIM:182230 |
Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Pallor, ... |
OMIM:619488 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Renal cyst, Narrow chest, Short palm, Urethrovaginal fistula, Cl... |
ORPHA:93271 |
Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Palmoplantar hyperkeratosis, High palate, Short philtrum, Shallow orbits, Tricuspid regurgitation... |
OMIM:619127 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst |
OMIM:602579 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the... |
OMIM:616145 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Pectus carinatum, Postauricular pit, Narrow greater sciatic notch, Short palm, Preaur... |
OMIM:312870 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Coxa ... |
OMIM:259450 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Coronal hypospadias, Talipes equinovarus, Neonatal death |
OMIM:619859 |
Double Outlet Right Ventricle |
|
Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Heart murmur, Nar... |
ORPHA:3426 |
Ulbright-Hodes Syndrome |
|
High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Humeroradial synostosis, Ab... |
ORPHA:3404 |
Mullegama-Klein-Martinez Syndrome |
|
Preauricular pit, Thin upper lip vermilion, Curly eyelashes, Cleft lip, Cleft palate, Submucous c... |
OMIM:301022 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Hypospadias, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Addu... |
OMIM:618874 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hypoplastic pu... |
ORPHA:1865 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Talipes equinovarus |
OMIM:260300 |
Treacher Collins Syndrome 2 |
|
Preauricular pit, Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:613717 |
Fumarase Deficiency |
|
Elevated urine fumaric acid level, Aminoaciduria, Increased urine succinate level, Perimembranous... |
OMIM:606812 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epicanthus, Abnormality of the kidney, T... |
ORPHA:847 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, Bilateral coxa valga, Clinodactyly of the 5th finger, Thoracic hypertrich... |
OMIM:618268 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Postnatal growth retardation, Preaxial hand polydactyly, Chorde... |
ORPHA:96179 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossification of carpa... |
OMIM:618395 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Clinodactyly, Hir... |
OMIM:618087 |
Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Anophthalmia, Congenital hip dislocation, Brittle hair, Osteop... |
OMIM:305600 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Ptosis, Short stature, Bilater... |
ORPHA:794 |
Hajdu-Cheney Syndrome |
|
Synophrys, Low anterior hairline, Coarse hair, Generalized hirsutism, Partial absence of toe, Hyp... |
ORPHA:955 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Bilateral single transverse palmar creases, Talipes... |
ORPHA:1308 |
Dystonia, Dopa-Responsive |
|
Pes cavus, Talipes equinovarus |
OMIM:128230 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Renal hypoplasia, Aortic valve stenosis, Vesicoureteral reflux, Mitr... |
OMIM:617660 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Clinodactyly, Downslanted palpebral fissures |
OMIM:619981 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Telecanthus, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of f... |
OMIM:208150 |
Mesomelia-Synostoses Syndrome |
|
Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsa... |
OMIM:600383 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Dental crowding, Limited elbow movement, Sparse eyebrow, Dental malocclusion, T... |
OMIM:614008 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus |
OMIM:616155 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Tricuspid regurgitati... |
OMIM:253200 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Micromelia, Abnormal eyelid... |
ORPHA:2671 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Calf muscle hypertrophy, Talipes equinovarus |
OMIM:616827 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic k... |
OMIM:619562 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Epicanthus inversus, Syndactyly, Patent ductus arteriosus, Postaxial foo... |
OMIM:249000 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormality of the elbow, Abnormal rib morphology, Abnormal hip bone morphology |
ORPHA:1486 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Melas |
|
Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis |
ORPHA:550 |
Acrocephalopolydactylous Dysplasia |
|
Epicanthus, Micromelia, Postaxial hand polydactyly, Upslanted palpebral fissure, Cystic renal dys... |
OMIM:200995 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Distal lower limb muscle weakness, Talipes equinovarus |
ORPHA:466794 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Pes planus, Sandal gap, Abnormal foot morphology, Decreased/absent ankle reflexes, Abnormal renal... |
ORPHA:477817 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Short stature, Hypospadias, Blepharophimosis, Patent ductus arteriosus,... |
OMIM:300712 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Small hand, Elbow flexion contracture, Knee flexion contracture,... |
ORPHA:371364 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Short metacarpal, Ulnar deviatio... |
OMIM:617137 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dyspla... |
ORPHA:97360 |
Craniofrontonasal Syndrome |
|
Ridged nail, Clinodactyly of the 5th finger, Split nail, Broad hallux, Hypospadias, Hemihypotroph... |
OMIM:304110 |
D-Bifunctional Protein Deficiency |
|
Epicanthus, Split hand, Renal cyst, Upslanted palpebral fissure, Hammertoe, Talipes equinovarus |
OMIM:261515 |
Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Metaphyseal sclerosis, Enlargement of the costochondral junction, Metaphyse... |
OMIM:260400 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Patent ductus arteriosus, Conjunctivitis, Renal cyst |
ORPHA:488618 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Telecanthus, Short stature, Down-sloping shoulders, Open bite, Deep philtrum, ... |
ORPHA:1974 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidn... |
OMIM:164210 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Telecanthus, Ulnar deviation of the hand, Rhizomelia, Ureteral hypopla... |
ORPHA:79328 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Epicanthus, Arachnodactyly, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Campto... |
ORPHA:562528 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Preauricular... |
OMIM:107480 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead... |
ORPHA:89936 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Ureterocele, Vesicour... |
OMIM:129900 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Talipes equinovarus, Hand... |
OMIM:617988 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Small h... |
OMIM:181405 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Urinary incontinence, Pyloric stenosis, Thin ribs, Ptosis |
ORPHA:169189 |
Central Core Disease |
|
Pes planus, Rectus femoris muscle atrophy, Congenital hip dislocation, Talipes equinovarus |
ORPHA:597 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell carcinoma, Multi... |
ORPHA:2869 |
Arima Syndrome |
|
Ptosis, Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Hematu... |
OMIM:243910 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Antecubital pterygium, Absent phalangeal crease, Tarsal synostosis |
OMIM:618469 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Telecanthus, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethy... |
ORPHA:26791 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios... |
OMIM:267010 |
Monosomy 18Q |
|
Pes planus, Epicanthus, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Patent d... |
ORPHA:1600 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Tapered finger, Elbow flexion contracture, Talipes equinovarus, Radial de... |
OMIM:272430 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Glomerulopathy, Postnatal growth retardation, Hemolytic-uremic syndrome, Intrauterine... |
ORPHA:2169 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Epicanthus, Hypospadias, Upslanted palpebral fissure, Epiphyseal st... |
ORPHA:912 |
Schisis Association |
|
Renal agenesis, Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal a... |
ORPHA:63862 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Synophrys, Low anterior hairline, C... |
ORPHA:199 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Epicanthus, Hypospadias, Nephroblastoma, Renal cyst, Upslanted palp... |
OMIM:257300 |
Tolchin-Le Caignec Syndrome |
|
Thick eyebrow, Arachnodactyly, Hooded eyelid, Submucous cleft hard palate, Nasolacrimal duct obst... |
OMIM:618971 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ... |
ORPHA:3144 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Slender long b... |
ORPHA:536471 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Pyloric stenosis, Rib fusion, Cleft palate, Hand polydactyly |
ORPHA:261197 |
Pyknoachondrogenesis |
|
Palpebral edema, Hypoplastic ischia, Short iliac bones, Micromelia, Short thorax, Abnormal iliac ... |
ORPHA:3003 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Abnormal 5th finger morphology, Glandular hypospadias, Dystrophic toenail, Symphalang... |
ORPHA:1439 |
Perrault Syndrome 1 |
|
Pes cavus, Talipes equinovarus |
OMIM:233400 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Keratoconjunctivitis sicca, Nail dystrophy... |
OMIM:601675 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Abnormality of the dentition, Femoral bowing, Thin ribs, Long eyelashes |
OMIM:617952 |
Micro Syndrome |
|
Hypoplasia of penis, Abnormal localization of kidney, Hydronephrosis, Microphthalmia, Generalized... |
ORPHA:2510 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger... |
ORPHA:464 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic fingernail, Hypospadias, Clinodactyly of the 5th finger... |
ORPHA:2059 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Proteinuria, Rocker bottom foot, Tapered finger, Bilatera... |
ORPHA:1272 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand p... |
OMIM:236700 |
Amish Lethal Microcephaly |
|
Organic aciduria, Cleft soft palate |
ORPHA:99742 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... |
OMIM:620076 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Pe... |
ORPHA:666 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pes planus, Sparse scalp hair, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger c... |
OMIM:620029 |
Lathosterolosis |
|
Epicanthus, Toe syndactyly, Myelomeningocele, Postaxial hand polydactyly, Horseshoe kidney, Posta... |
OMIM:607330 |
Renpenning Syndrome 1 |
|
Epicanthus, Brittle hair, Hypospadias, Telecanthus, Phimosis, Renal hypoplasia, Narrow foot, Upsl... |
OMIM:309500 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Recurrent urinary tract infections, Toe syndactyly, Bilateral camptodactyly, Upslanted palpebral ... |
OMIM:619234 |
3Mc Syndrome |
|
Ptosis, Telecanthus, Highly arched eyebrow, Postnatal growth retardation, Limited pronation/supin... |
ORPHA:293843 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Heparan sulfate excretion in urine, Syn... |
OMIM:252940 |
Faciocardiomelic Syndrome |
|
Telecanthus, Dental malocclusion, Wide mouth, Slender long bone, Long philtrum, Polydactyly, Narr... |
OMIM:612731 |
De Barsy Syndrome |
|
Dermal translucency, Epicanthus, Congenital hip dislocation, Patent ductus arteriosus, Coxa vara,... |
ORPHA:2962 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Achard Syndrome |
|
Arachnodactyly, Micrognathia |
OMIM:100700 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Hyperhidrosis, Downturned corners of mouth, S... |
ORPHA:453504 |
Specc1L-Related Hypertelorism Syndrome |
|
Preauricular pit, Finger syndactyly, Ptosis, Highly arched eyebrow, Ectopic kidney, Patent ductus... |
ORPHA:1519 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Hyperhidrosis, Downturned corners of mouth, S... |
ORPHA:352665 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Protruding tongue, Gingival overgrowth, Telangiectasia, Polydactyly, Petechiae |
ORPHA:93400 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contractu... |
OMIM:611961 |
Cog1-Cdg |
|
Thin upper lip vermilion, Rhizomelia, Coxa valga, Pierre-Robin sequence, Rib fusion, Posterior ri... |
ORPHA:263508 |
Tetrasomy 5P |
|
Epicanthus, Redundant neck skin, Overlapping toe, Short hallux, Long fingers, Upslanted palpebral... |
ORPHA:3309 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Overlapping toe, Genu recurvatum, Hip dislocation, Elbow flexion contracture, Lo... |
OMIM:617301 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, En... |
ORPHA:289157 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Alopecia, Telecanthus, Fine hair, Upslanted palpebral fissure, Microphthalmia |
ORPHA:228390 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Highly arched eyebrow... |
ORPHA:1454 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Optic nerve hypoplasia, Sparse eyebrow, Synophrys, Low anterior hairl... |
ORPHA:495875 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Short foot, Short palm, Microphthalmia, Micropenis |
OMIM:241410 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, High, narrow pala... |
OMIM:188400 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Upslanted palpebral fissure, Clinodactyly, Talipes equinovarus |
OMIM:616789 |
Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Talipes equinovarus |
OMIM:617695 |
Pontocerebellar Hypoplasia, Type 1A |
|
Abnormal foot morphology, Talipes equinovarus |
OMIM:607596 |
Myhre Syndrome |
|
Short philtrum, Hypoplastic iliac wing, Broad ribs, Cleft lip, Short toe, 2-3 toe syndactyly, Con... |
OMIM:139210 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Broad hallux, Scarring alopecia of scalp, Unilateral narrow palpebral fissure, Microp... |
OMIM:618727 |
Adnp Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Broad hallux, Sandal gap, Short sta... |
ORPHA:404448 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Hypercalciuria, Renal cyst, Upper limb undergrowth, Nephrocalcinosis, S... |
ORPHA:369837 |
Aicardi-Goutières Syndrome |
|
Ptosis, Micropenis, Dry skin, Eyelid coloboma |
ORPHA:51 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Postauricular pit, Clin... |
OMIM:113620 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Epicanthus, Pancreatic cysts, Renal cyst, Buphthalmos, Polycystic kidney dysplasia, Umbilical hernia |
OMIM:610199 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Pes cavus, Split hand, Genu recurvatum, Talipes equinovarus |
OMIM:604168 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of ... |
OMIM:300166 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... |
OMIM:300106 |
Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Overlapping toe, Narrow palpebral fissure, Horizontal eyebrow, Microphthalmia, Renal ... |
OMIM:618571 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Short stature, Accessory carpal bones, Cleft palate, Abnormal e... |
ORPHA:503 |
Hypoglossia-Hypodactylia |
|
Split hand, Adactyly, Retrognathia, Micrognathia |
OMIM:103300 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Highly arched eyebrow, Ulnar bowing, Shortening of all distal phalanges o... |
OMIM:619135 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Short long bone, Talipes equinovar... |
OMIM:224410 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala... |
ORPHA:457279 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Thin ribs, Abnormal renal corticomedullary differentiation, Bradycardia, Pet... |
OMIM:617397 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Dry skin, Hypertrichosis, Cutis laxa |
OMIM:612379 |
Autosomal Recessive Spastic Paraplegia Type 59 |
|
Talipes equinovarus |
ORPHA:401795 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Hammertoe, Pes cavus, Talipes equinovarus |
OMIM:601596 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Single transverse palmar crease, Proximal placement... |
OMIM:261540 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus |
OMIM:618174 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Talipes equinovarus |
OMIM:616719 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Talipes cavus equinovarus |
ORPHA:139485 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Genu varum, Melanocytic nevus, Multiple cafe-au-lait spots, Sho... |
ORPHA:1969 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Talipes equinovalgus, Bilateral talipes equinovarus |
OMIM:619735 |
Coffin-Siris Syndrome 12 |
|
Synophrys, High palate, Hypospadias, Highly arched eyebrow, Short thumb, Celiac disease, Velophar... |
OMIM:619325 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Meckel Syndrome |
|
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Bowing of the lo... |
ORPHA:564 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Postaxial polydactyly, Tubular luminal dilatation, Renal corticomedullary cy... |
OMIM:219730 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Patent ductus arteriosus, Microphthalmia |
ORPHA:77298 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Pectus carinatum, High palate, Broad... |
OMIM:619472 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia |
OMIM:619774 |
Prader-Willi Syndrome |
|
Thin upper lip vermilion, Syndactyly, Short stature, Carious teeth, Almond-shaped palpebral fissu... |
OMIM:176270 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Talipes equinovarus |
OMIM:617481 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Epicanthus, Low posterior hairline, Narrow palpebral fissure, Talipes equinovarus, Downslanted pa... |
OMIM:619493 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Blepharophimosis, Patent ductus arteriosus, Bilateral microphtha... |
OMIM:601186 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Mitral regurgitation, Long palpebral fissure, Ptosis |
OMIM:603387 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Thin upper lip vermilion, Hyperextensibility of the finger joints, Short stature, Rocke... |
ORPHA:163979 |
Meester-Loeys Syndrome |
|
Arachnodactyly, Gingival overgrowth, Abnormal sternum morphology, High palate, Broad distal phala... |
OMIM:300989 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Heparan sulfate excretion in urine, Synophrys, Asymmetric septal hypertrophy, Eve... |
OMIM:252930 |
Alg8-Cdg |
|
Cutis laxa, Talipes equinovarus, Camptodactyly, Premature skin wrinkling, Brachydactyly |
ORPHA:79325 |
Wiedemann-Rautenstrauch Syndrome |
|
Genu varum, Long toe, Absent eyebrow, Alopecia, Hypospadias, Absent eyelashes, Sparse eyebrow, Lo... |
OMIM:264090 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Ankyloblepharon, Cleft palate, Popliteal pter... |
OMIM:119500 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th finge... |
ORPHA:1449 |
Hardikar Syndrome |
|
Preauricular pit, Renal insufficiency, Hydroureter, Lacrimal duct stenosis, Cleft soft palate, In... |
OMIM:301068 |
Spondylo-Ocular Syndrome |
|
Pes planus, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Low posterior hairline, ... |
ORPHA:85194 |
Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Scaling skin, Renal cortical cysts |
OMIM:609180 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar c... |
OMIM:617527 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Short metat... |
OMIM:618150 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Nail dy... |
ORPHA:139471 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Plantar flexion contracture, Talipes equinovarus, Absent Achilles reflex |
OMIM:620011 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, ... |
ORPHA:534 |
Aicardi Syndrome |
|
Intestinal polyposis, Missing ribs, Hiatus hernia, Malabsorption, Cleft upper lip, Rib fusion, Sm... |
ORPHA:50 |
Monosomy 22 |
|
Finger syndactyly, Epicanthus, Single transverse palmar crease, Synophrys, Clubbing, Micropenis, ... |
ORPHA:96123 |
Loeys-Dietz Syndrome |
|
Abnormal bleeding, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Pectus excavatum, Oro... |
ORPHA:60030 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Bifid uvula, Hy... |
OMIM:218600 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Hi... |
ORPHA:2879 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Entropion, Redundant skin, Hip dislocation, Cutis laxa, Hip dysplasia, Talipes equinovarus, Campt... |
OMIM:617403 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Dental malocclusion, Devi... |
OMIM:269500 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Bifid uvula |
ORPHA:899 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Tibial bowing, Thin ribs, Slender long bone, Pulmonary arterial hypertension... |
OMIM:259420 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Patent ductus arteriosus, Abnormal metaphysis mor... |
ORPHA:290 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Short stature, Sparse eyebrow, Patent ductus arteriosus, Narrow palpebral fissure, Th... |
OMIM:619869 |
Frontorhiny |
|
Encephalocele, Ptosis, Epicanthus, Camptodactyly of finger, Widow's peak, Finger clinodactyly, Ba... |
ORPHA:391474 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Talipes equinovarus |
ORPHA:401815 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Epicanthus, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hyp... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Short stature, Hyp... |
ORPHA:353277 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Rib fusion |
OMIM:608681 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Mosaic Trisomy 16 |
|
Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Patent ductus arteriosus, ... |
ORPHA:1708 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Posterior rib gap, Cleft palate, Bell-shaped thorax, Glossoptosis, ... |
ORPHA:1393 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... |
ORPHA:358 |
Barth Syndrome |
|
Fair hair, 3-Methylglutaconic aciduria, Talipes equinovarus |
OMIM:302060 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Pes planus, Epicanthus, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Abno... |
ORPHA:536545 |
Fanconi Anemia, Complementation Group N |
|
Epicanthus, Postnatal growth retardation, Short thumb, Nephroblastoma, Cafe-au-lait spot |
OMIM:610832 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Sparse eyebrow,... |
OMIM:613451 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Short stature, Tapered... |
ORPHA:480880 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Neurogenic bladder, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Vesicoureteral reflux, Hypospadias, Arachnodactyly, Spina bifida, Pat... |
ORPHA:567 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Premature loss of primary teeth, Abnormal ri... |
ORPHA:667 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Epicanthus, Cystathioninuria, Patent ductus arteriosus, Methylmalonic aciduria, Talipes equinovar... |
OMIM:277380 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Pes planus, Entropion, Overlapping toe, Blepharophimosis, Knee flexion contracture, Nephrocalcino... |
OMIM:617402 |
Faundes-Banka Syndrome |
|
Pes planus, Sparse scalp hair, Epicanthus, Hypoplastic toenails, Hypoplasia of the lower eyelids,... |
OMIM:619376 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Renal cyst, Hyperechogenic kidneys, Ptosis |
OMIM:615636 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Synophrys, Thickened ribs, Asymmetric septal hypertrophy |
OMIM:252920 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Talipes equinovarus, Adducted thumb |
OMIM:612936 |
Bloom Syndrome |
|
Syndactyly, Postnatal growth retardation, Spotty hypopigmentation, Agenesis of maxillary lateral ... |
OMIM:210900 |
Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Hypospadias, Renal agenesis, Avascular necrosis of the capital f... |
ORPHA:2044 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Calf muscle hypertrophy, Scapular muscle atrophy, Peroneal muscle weakness, Talipes equinovarus |
OMIM:611588 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Redundant neck skin, Abnormally large globe, Metatarsus adductus, Flare... |
OMIM:249420 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Velocardiofacial Syndrome |
|
Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin ... |
OMIM:192430 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine h... |
OMIM:308300 |
Cystic Echinococcosis |
|
Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst |
ORPHA:400 |
Fontaine Progeroid Syndrome |
|
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Micropenis, Syndac... |
OMIM:612289 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Overlapping toe, Renal cyst |
OMIM:617478 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Short stature, Cleft upper lip, Long fingers, Synophrys, Cleft palate... |
OMIM:614294 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Talipes equinovarus |
OMIM:617662 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Long fingers, Talipes equinovarus, Pes cavus |
ORPHA:169186 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Patent ductus arteriosus, Stage 5 chronic k... |
OMIM:208540 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Patent ductus arteriosus, Renal hypoplasia, Polycystic ki... |
ORPHA:84064 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Long fingers, Upslanted palpebral fissure, Bilateral talipes equinovarus, Talipes equinovarus, Ca... |
OMIM:618343 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Keratoconjunctivitis sicca, Sparse hair, M... |
ORPHA:1806 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Synophrys, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uv... |
OMIM:607872 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Aminoaciduria, Ketonuria, High palate |
OMIM:614520 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Blepharophimosis, Absent radius, Aplasia... |
ORPHA:1352 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
Glass Syndrome |
|
Arachnodactyly, Anterior tibial bowing, Long eyelashes, Talipes equinovarus, Nail dysplasia, Camp... |
OMIM:612313 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
X-Linked Intellectual Disability, Armfield Type |
|
Epicanthus, Short stature, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Cleft ... |
ORPHA:85276 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Talipes equinovarus |
OMIM:618917 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias |
OMIM:620306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Synophrys, Thickened ribs, Asymmetric septal hypertrophy |
OMIM:252900 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... |
ORPHA:87 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Decreased palmar creases, Th... |
OMIM:612394 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Epiphyseal stippling, Talipes equinovarus |
OMIM:614872 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Microphthalmia, Hypoplasia of penis |
ORPHA:2328 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Pes planus, Sandal gap, Arachnodactyly, Hip dysplasia, Talipes equinovarus, Camptodactyly |
OMIM:617146 |
Waardenburg Syndrome, Type 1 |
|
Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Synophrys, Orofacial cleft, Supernu... |
OMIM:193500 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Esophageal varix, Cutis marmorata telangiectatica congenita, Aplasia cutis congenita,... |
OMIM:616028 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Tapered finger, Blepharophimosis, Patent ductus arteriosus, Small hand, Renal hypoplasia, Hip dys... |
OMIM:620005 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Almond-shaped palpebral fissure, Renal cyst, Nephrotic syndrome, Proximal tubulopathy |
OMIM:212065 |
Craniorachischisis |
|
Bifid sternum, Anal atresia, Sirenomelia |
ORPHA:63260 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele |
ORPHA:324416 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia |
ORPHA:35125 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Larsen-Like Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Radial deviation of the 4th finger, Bipartit... |
OMIM:608545 |
Holoprosencephaly |
|
Encephalocele, Ptosis, Hypoplasia of penis, Anophthalmia, Proteinuria, Talipes, Highly arched eye... |
ORPHA:2162 |
Pentalogy Of Cantrell |
|
Hypospadias, Renal agenesis, Non-midline cleft lip, Split hand, Abnormal tibia morphology, Cleft ... |
ORPHA:1335 |
Loeys-Dietz Syndrome 4 |
|
Pes planus, Arachnodactyly, Protrusio acetabuli, Talipes equinovarus, Downslanted palpebral fissu... |
OMIM:614816 |
Tuberous Sclerosis 1 |
|
Renal cyst, Renal cell carcinoma, Preauricular hair displacement, Renal angiomyolipoma, Subungual... |
OMIM:191100 |
Schinzel-Giedion Syndrome |
|
Overlapping fingers, Hypospadias, Nephroblastoma, Overlapping toe, Generalized hypertrichosis, Ab... |
ORPHA:798 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Talipes, Renal hypoplasia/aplasia, Postaxial han... |
ORPHA:2166 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus |
OMIM:209770 |
Bruck Syndrome |
|
Bowing of the long bones, Talipes equinovarus, Pterygium |
ORPHA:2771 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, 2-3 finger syndactyly, Hamartoma of tongue |
ORPHA:1338 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis... |
ORPHA:79500 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Congenital hip dislocation, Epispadias... |
OMIM:258040 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:614067 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Costello Syndrome |
|
Deep-set nails, Hyperextensibility of the finger joints, Renal insufficiency, Redundant neck skin... |
OMIM:218040 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Shwachman-Diamond Syndrome 2 |
|
Anterior rib cupping, Metaphyseal widening, Prolonged prothrombin time, High palate, Steatorrhea,... |
OMIM:617941 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Pectus carina... |
ORPHA:261537 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb |
ORPHA:171430 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ... |
OMIM:143095 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Pes planus, Bowing of the long bones, Sparse scalp hair, Arachnodactyly, Single transve... |
OMIM:130070 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Ectopic kidney, Conical tooth, Prominent interphalangeal joints,... |
OMIM:135900 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Long fingers, Upslanted palpebral fissure, Hypoplastic nipples, Blepharophimosis, Mic... |
OMIM:156610 |
Renal Agenesis, Bilateral |
|
Epicanthus, Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Siren... |
ORPHA:1848 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Calf muscle hypertrophy, Microphthalmia |
OMIM:613155 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... |
OMIM:304120 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic aciduria, Bell-shaped thorax, Pulmonary arterial hypertension, Homocystinuria, Hori... |
OMIM:614857 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Renal cell carc... |
OMIM:613254 |
Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Microphthalmia, Tiger tail banding, Trichorrhexis nodosa, Ectropion |
OMIM:616395 |
Mpdu1-Cdg |
|
Scaling skin, Renal cortical cysts |
ORPHA:79323 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Sparse eyebr... |
OMIM:309583 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Upslanted palpebral fissure, Microphthalmia, Epicanthus, Downslanted palpebral fissures |
OMIM:152950 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Sparse scalp hair, Pat... |
OMIM:606170 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Epicanthus, Abnormal dental morphology, Abnormal or... |
ORPHA:2136 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Pes cavus, Talipes equinovarus, Intrinsic hand muscle atrophy, Knee flexion contracture |
OMIM:615490 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Dental crowding, Left ventricular noncompaction cardiomyopathy, High, narrow palat... |
OMIM:300967 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries, Pallor, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Hartsfield Syndrome |
|
Syndactyly, Epicanthus, Median cleft lip, Hypospadias, Cleft upper lip, Cleft palate, Growth dela... |
OMIM:615465 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Pancreatic cysts, Renal cyst, Pedal edema, Abnormal bladder morp... |
ORPHA:284 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Downturned corners of ... |
OMIM:619522 |
Microphthalmia, Isolated 8 |
|
Entropion, Anophthalmia, Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Short palpebr... |
OMIM:615113 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, High palate, Prominent fingertip pads, Micropenis, Preauricular pit, ... |
OMIM:147920 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Thick eyebrow, Talipes equinovarus, Highly arched eyebrow |
OMIM:617865 |
Developmental And Epileptic Encephalopathy 89 |
|
Highly arched eyebrow, Sparse eyebrow, Upslanted palpebral fissure, Talipes equinovarus, Neonatal... |
OMIM:619124 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hal... |
OMIM:236680 |
Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Aicardi Syndrome |
|
Skin tags, Proximal placement of thumb, Hiatus hernia, Missing ribs, Cleft upper lip, Rib fusion,... |
OMIM:304050 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Bilateral talipes equinovarus, Ankle flexion contracture, Knee flexion contracture |
ORPHA:284417 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Pectus carina... |
ORPHA:261552 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Microphthalmia, Generalized hirsutism, Ptosis |
ORPHA:1915 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Proteus Syndrome |
|
Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the wrist,... |
ORPHA:744 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Epicanthus, Abnormality of the upper limb, Clinodactyly of the 5th ... |
ORPHA:1052 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Pes planus, Arachnodactyly, Broad hallux, Downslanted palpebral fissures, Short finger, Microphth... |
OMIM:601552 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Thin ribs |
OMIM:614833 |
Larsen Syndrome |
|
Short metacarpal, Short nail, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Dislocat... |
OMIM:150250 |
Distal Deletion 6P |
|
Epicanthus, Hypoplasia of the iris, Short foot, Talipes equinovarus, Abnormal epiphysis morpholog... |
ORPHA:96125 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Low anterior hairline |
OMIM:613153 |
Grange Syndrome |
|
Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly |
OMIM:602531 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premat... |
ORPHA:3455 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Bilateral talipes equinovarus |
OMIM:616521 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Ptosis, Epicanthus, Hypospadias, Tapered finger, Clinodactyly, Renal hypoplasia, Tali... |
OMIM:309580 |
Prune1-Related Neurological Syndrome |
|
Bilateral talipes equinovarus |
ORPHA:544469 |
Mowat-Wilson Syndrome |
|
Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Pectus carina... |
ORPHA:2152 |
Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Epicanthus, Hypospadias, Abnormality of the kid... |
ORPHA:1606 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Ungual fibroma, Ret... |
ORPHA:805 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Renal neoplasm, Bowing of the long bones, Dermal translucency, Arachnodactyly, Pha... |
ORPHA:536467 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Downslanted palpebral fissures, Camptodacty... |
ORPHA:251038 |
Chromosome 13Q14 Deletion Syndrome |
|
Epicanthus, Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Hip dislocati... |
OMIM:613884 |
Microhydranencephaly |
|
Hydranencephaly, Talipes equinovarus |
OMIM:605013 |
Timothy Syndrome |
|
Microdontia, Thin upper lip vermilion, Patent ductus arteriosus, Cutaneous syndactyly |
OMIM:601005 |
Prader-Willi Syndrome Due To Translocation |
|
Pes planus, Hypopigmentation of hair, Overlapping toe, Abnormality of the kidney, Almond-shaped p... |
ORPHA:177907 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage, Thin ribs |
OMIM:615368 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Hypospadias, Patent ductus arteriosus, Orofacial cleft, Methylmalonic... |
ORPHA:17 |
Legius Syndrome |
|
Short stature, Nephrolithiasis, Multiple cafe-au-lait spots, Diaphyseal dysplasia, Xanthelasma, P... |
ORPHA:137605 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... |
OMIM:619471 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Mild postnatal growth retardation, Single transverse palmar crease, Deep philt... |
OMIM:150230 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Short metatarsa... |
OMIM:216340 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Short stature, Smooth philtrum, Long philtrum |
OMIM:616430 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hypoplastic scapulae, Epicanthus, Pilomatrix... |
ORPHA:3310 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Pes cavus, Talipes cavus equinovarus, Claw hand deformity, Hammertoe |
OMIM:601455 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Sparse pubic hair, Blepharophimosis, Microphthalmia, Epicanth... |
OMIM:110100 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Clinodactyly, Male urethral meatus stenosis, Microphallus, Short pal... |
OMIM:613406 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Retinal capillary ... |
OMIM:193300 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased laxity of ankles, Hip dislocation, Talipes equinovarus, Increased laxity of fingers |
OMIM:254090 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal eyelid ... |
ORPHA:2526 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, High, narrow palate, Dermatoglyphic ridges abnormal, Enlar... |
ORPHA:881 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea... |
OMIM:607932 |
Cockayne Syndrome B |
|
Renal insufficiency, Dry hair, Proteinuria, Abnormal hair morphology, Ivory epiphyses of the phal... |
OMIM:133540 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Umbilical hernia, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ... |
ORPHA:56305 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ... |
ORPHA:2250 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Talipes equinovarus |
ORPHA:171695 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversio... |
OMIM:610682 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Missing ribs, Rib fusion, Thin ribs, Urethral atresia, Short ribs, Hydronephrosis, Anal atresia |
OMIM:271520 |
Hallermann-Streiff Syndrome |
|
Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Small hand,... |
ORPHA:2108 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration o... |
OMIM:610168 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Epicanthus, Congenital hip dislocation, Almond-shaped palpebral fissure, Long fingers, Fetal pyel... |
OMIM:619512 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Telecanthus, Arachnodactyly, Nephrotic syndrome, Talipes equinovarus, Umbilical hernia, Ecchymosi... |
OMIM:601776 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Talipes equinovarus, Camptodactyly |
OMIM:301039 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Ulnar deviation o... |
ORPHA:1101 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Epicanthus, Thick upper lip vermilion, Thick lower lip vermilion, Broad is... |
OMIM:619727 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Epicanthus, Tapered finger, Narrow palpebral fissure, Talipes equinovarus, Downslanted palpebral ... |
OMIM:613603 |
Classical Ehlers-Danlos Syndrome |
|
Pes planus, Epicanthus, Phalangeal dislocation, Abnormal foot morphology, Dermatochalasis, Hip di... |
ORPHA:287 |
Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Highly arched eyebrow, Bilateral talipe... |
OMIM:619775 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Hip dislocation, Flattened epiphysis, Coxa vara, Cervical myelopathy, Tal... |
OMIM:183900 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Talipes cavus equinovarus |
ORPHA:59135 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Laryngeal Abductor Paralysis |
|
Talipes equinovarus |
OMIM:150260 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Renal cortical cysts, Deep plantar creases, Vesicoureteral reflux, Hooded upper eyel... |
OMIM:618548 |
Synaptic Congenital Myasthenic Syndromes |
|
Abnormality of the knee, Scapular winging, Limited wrist extension, Hand muscle weakness, Bilater... |
ORPHA:98915 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Ectropion, Epicanthus, Concave nail, Bi... |
ORPHA:33364 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Abnormal nasolacrimal system morphology, Camptodactyly of finger, Blepharophimosis, Submucous cle... |
ORPHA:3047 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Sparse eyebrow, Unilateral brachydactyly, Wide mouth, High pa... |
ORPHA:1521 |
Rodrigues Blindness |
|
Sparse hair, Microphthalmia, Fine hair |
OMIM:268320 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Rib fusion |
OMIM:277300 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Epicanthus, Limited wrist movement, White hair, Hip dislocation, Knee ... |
ORPHA:576 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora... |
OMIM:610915 |
Kagami-Ogata Syndrome |
|
Pursed lips, Coxa valga, Bell-shaped thorax, Broad philtrum, Coat hanger sign of ribs, Blepharoph... |
ORPHA:254519 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs |
OMIM:615220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Talipes cavus equinovarus, Synophrys, Prominent protruding coccyx, Nasolacrimal duct obstruction,... |
OMIM:300966 |
Cardiospondylocarpofacial Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Tarsal synostosis, Rib fusion, Vesicoureteral reflux, Horseshoe ... |
OMIM:157800 |
Carey-Fineman-Ziter Syndrome 1 |
|
Epicanthus, Lagophthalmos, Tapered finger, Pectoralis hypoplasia, Talipes equinovarus, Downslante... |
OMIM:254940 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cleft upper lip, Patent ductus arteriosus, Split hand, Clubbing, Cleft palate, Growt... |
OMIM:600460 |
Atelis Syndrome 2 |
|
Pes planus, Epicanthus, Single transverse palmar crease, Patent ductus arteriosus, Microphthalmia... |
OMIM:620185 |
Seckel Syndrome 9 |
|
Recurrent urinary tract infections, Talipes equinovarus, Hypertrichosis |
OMIM:616777 |
Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pul... |
OMIM:212093 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Microphthalmia, Shallow orbits |
OMIM:617306 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial... |
OMIM:309800 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Malabsorption, Avascular necrosis of the capital femoral epiphysis,... |
ORPHA:581 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Thickened ribs, Highly arched eyebrow, Pectus excavatum, Genu valgum, Pectu... |
ORPHA:309282 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Wrinkly Skin Syndrome |
|
Pes planus, Scapular winging, Congenital hip dislocation, Epicanthus, Redundant skin, Short nail,... |
OMIM:278250 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Epicanthus, Jejunal atresia, Hypospadias, Ileal atresia, Epicanthus inversus, Upslant... |
OMIM:618820 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... |
OMIM:609049 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Microphthalmia, Broad... |
ORPHA:1236 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Calf muscle pseudohypertrophy, Optic nerve hypoplasia |
ORPHA:370959 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Downslanted palpebral fissures, Talipes equinovarus |
OMIM:613744 |
Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition, Distal renal tubula... |
ORPHA:2785 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Congestive heart failure, Dilated cardiomyopathy, Gingival overgrowth, Hypertroph... |
OMIM:230500 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Micropenis, Hypoplasia of the ul... |
OMIM:214800 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Knee flexion contracture, Epiphyseal stippling, Coarse hair, Talipes equinovarus... |
OMIM:118650 |
Optic Atrophy 11 |
|
Bilateral talipes equinovarus, Optic nerve hypoplasia |
OMIM:617302 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Epicanthus, Abnormal location of the eyebrow, Equinus calcaneus, Almond-shaped palpebral fissure,... |
ORPHA:522077 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Hypospadias, Brachydactyly, M... |
ORPHA:709 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Ungual fibroma, Retinal hamartoma, Hematuria, Multiple re... |
ORPHA:538 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Coccidioidomycosis |
|
Urticarial plaque, Pericarditis, Renal insufficiency, Indurated nodule, Vasculitis, Verrucous pap... |
ORPHA:228123 |
Heart And Brain Malformation Syndrome |
|
Hand clenching, Microphthalmia, Camptodactyly of finger |
OMIM:616920 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Hypoplasia of the radius, H... |
ORPHA:3412 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Renal c... |
OMIM:601803 |
Mend Syndrome |
|
Telecanthus, Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly... |
ORPHA:401973 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Sotos Syndrome |
|
Ureteral duplication, Pedal edema, Vesicoureteral reflux, Hypospadias, Abnormality of the kidney,... |
ORPHA:821 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Polydactyly |
OMIM:616562 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Talipes equinovarus |
OMIM:619752 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Williams Syndrome |
|
Hypoplasia of penis, Redundant skin, Hypoplastic toenails, Abnormal tubulointerstitial morphology... |
ORPHA:904 |
16P13.11 Microdeletion Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Downslanted palpebral fissures, Talipes equinovarus |
ORPHA:261236 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Short stature, Epicanthus, Clinodacty... |
ORPHA:1587 |
Caroli Disease |
|
Conjunctival icterus, Polycystic kidney dysplasia |
ORPHA:53035 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Yellow nails, Patent ductus arteriosus, Conjunctivitis, Microphthalmia, Distichiasis, ... |
OMIM:153400 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Wrist swelling, Bicarbonaturia, ... |
OMIM:309000 |
Infantile Liver Failure Syndrome 3 |
|
Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ... |
OMIM:618641 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Patent ductus arteriosus,... |
OMIM:206900 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Short metacarpal, Talipes equinovarus, Short distal phalanx of finger |
ORPHA:86822 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Broad ribs, Flaring of rib cage |
OMIM:612852 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormality of... |
ORPHA:3186 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Pes planus, Hip dislocation, Elbow flexion contracture, Congenital bilateral hip dislocation, Tal... |
ORPHA:1900 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Blepharophimosis, Arachnodactyly, Talipes equinovarus |
OMIM:619036 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Heparan sulfate excretion in... |
ORPHA:217085 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Synophrys, Lacrimal duct atresia, Microphthalmia, Micropenis |
OMIM:603457 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Narrow palpebral fissure, Ptosis |
OMIM:615145 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Thin upper lip vermilion, Toe clinodactyly, Epicanthus, Sandal gap, Telec... |
OMIM:620330 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Small nail, M... |
OMIM:100300 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Renal agenesis, Hypoplastic toenails, Patent ductus arteriosus, Myelo... |
OMIM:306955 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Heparan sulfate excretion in... |
ORPHA:217093 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Urethral atresia, Renal agenesis, Hypoplastic pelvis |
OMIM:273395 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Mild postnatal growth retardation |
OMIM:224120 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Epicanthus, Long fingers, Patent ductus arteriosus, Talipes equinovarus, Ch... |
OMIM:613355 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal nasolacrimal system morphology, Ab... |
ORPHA:2556 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad eyebrow, Hypospadias, Single transverse palmar crease, Palpebral edema, Synophrys, Genu val... |
OMIM:619475 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria, Ptosis |
ORPHA:699 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Tapered finger, Talipes equinovarus, Short palm, Umbilical hernia, Broad thumb |
OMIM:614501 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Epicanthus, Absent nipple, Broad hallux, Single transverse palmar crease, Sparse ... |
OMIM:620186 |
Nance-Horan Syndrome |
|
Microphthalmia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Paresis of extensor muscles of the big toe, Pes cavus, Talipes equinovarus |
ORPHA:98808 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Single transverse palmar crease, Chordee, Microphthalmia, Micropenis |
OMIM:309801 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fingers, Achilles tendon con... |
OMIM:616263 |
Desmosterolosis |
|
Epicanthus, Rhizomelia, Patent ductus arteriosus, Bilateral talipes equinovarus, Joint contractur... |
OMIM:602398 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Hypospadias, Pectus excavatum, Pyloric stenosis... |
OMIM:235730 |
Japanese Encephalitis |
|
Genu recurvatum, Elbow flexion contracture, Distal upper limb muscle weakness, Talipes equinovaru... |
ORPHA:79139 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Abnorm... |
ORPHA:79345 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe |
OMIM:615249 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion |
OMIM:278730 |
Lethal Congenital Contracture Syndrome 9 |
|
Ulnar deviation of the hand, Antecubital pterygium, Talipes equinovarus, Short umbilical cord, Jo... |
OMIM:616503 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Phocomelia, Mi... |
OMIM:184705 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Meningocele |
ORPHA:991 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly ... |
OMIM:620025 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Ptosis |
OMIM:614688 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Caroli Syndrome |
|
Conjunctival icterus, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Dermal sinus tract, Urinary rete... |
OMIM:600145 |
Iniencephaly |
|
Encephalocele, Renal agenesis, Rhizomelia, Spina bifida, Rocker bottom foot, Myelomeningocele, An... |
ORPHA:63259 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Abnormality of the kidney, Spina bifida, ... |
ORPHA:2369 |
Vascular Ehlers-Danlos Syndrome |
|
Ptosis, Alopecia, Congenital hip dislocation, Hypospadias, Redundant skin, Telecanthus, Abnormali... |
ORPHA:286 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney... |
ORPHA:731 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Alopecia, Genu recurvatum, Telecanthus |
ORPHA:2612 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Micropenis |
OMIM:610829 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Talipes equinova... |
OMIM:130050 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Erythema, Talipes equinovarus |
OMIM:614653 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Hypospadias, Chordee |
OMIM:618891 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Large placenta, Nephrolithiasis, Hypercalciuria, Congenital... |
ORPHA:116 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Knee flexion contracture, Overlapping fingers, Dilatation of the renal pelvis, Bilateral talipes ... |
OMIM:619708 |
Congenital Myopathy 13 |
|
Telecanthus, Bilateral talipes equinovarus, Blepharophimosis, Downslanted palpebral fissures, Sho... |
OMIM:255995 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Optic nerve hypoplasia, Adducted thumb |
OMIM:614643 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio... |
ORPHA:3206 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Talipes equinovarus, Distal lower limb muscle weakness, Pes cavus, Pt... |
ORPHA:14 |
Rett Syndrome, Congenital Variant |
|
Pes planus, Talipes equinovarus |
OMIM:613454 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Singleton-Merten Syndrome 1 |
|
Ptosis, Hypoplastic distal radial epiphyses, Coxa valga, Hip dislocation, High anterior hairline,... |
OMIM:182250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Micropenis, Hydronephrosis |
OMIM:615287 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Talipes equinovarus, Tibialis muscle weakness |
ORPHA:320375 |
Oculo-Palato-Cerebral Syndrome |
|
Short foot, Microphthalmia, Small hand, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Epicanthus, Downslanted palpebral fissures, Talipes equinovarus |
OMIM:616393 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmi... |
OMIM:236670 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Syndactyly, Renal insufficiency, Short stature, Postaxial polydactyly, Patent ductus ... |
OMIM:619534 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Patent ductus arteriosus, Postaxial hand polydactyly, Talipes equinovarus, Campto... |
OMIM:609192 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Phace Association |
|
Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Elbow flexion contracture... |
ORPHA:2020 |
Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Calf muscle hypertrophy |
OMIM:253800 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos |
OMIM:615085 |
Loeys-Dietz Syndrome 3 |
|
Pes planus, Arachnodactyly, Protrusio acetabuli, Patent ductus arteriosus, Cystocele, Knee osteoa... |
OMIM:613795 |
Bilateral Polymicrogyria |
|
Talipes equinovarus |
ORPHA:268940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Oculoauricular Syndrome |
|
Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Microphakia, Microphthalmia, S... |
OMIM:612109 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microphthalmia, Buphthalmos |
OMIM:613150 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lacrimal duct atresia |
OMIM:300952 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Holoprosencephaly 7 |
|
Occipital meningocele, Synophrys, Bilateral microphthalmos, Upslanted palpebral fissure, Shallow ... |
OMIM:610828 |
Steinert Myotonic Dystrophy |
|
Alopecia, Bilateral ptosis, Early balding, Shoulder girdle muscle weakness, Talipes equinovarus |
ORPHA:273 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Growth delay, Polydactyly, Delayed puberty, Abnormal digit morphology, Median... |
ORPHA:95494 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Femur fracture |
OMIM:612301 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
Holoprosencephaly 2 |
|
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... |
OMIM:157170 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Ptosis |
ORPHA:42775 |
Holoprosencephaly 1 |
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Microphthalmia, Micropenis |
OMIM:236100 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
Oculopalatocerebral Syndrome |
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Microphthalmia |
OMIM:257910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor |
OMIM:253280 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c... |
ORPHA:93325 |
Pmm2-Cdg |
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Pes planus, Epicanthus, Proteinuria, Long fingers, Upslanted palpebral fissure, Nephrotic syndrom... |
ORPHA:79318 |
Aprosencephaly And Cerebellar Dysgenesis |
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Talipes equinovarus |
OMIM:601374 |
Norrie Disease |
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Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia |
OMIM:175780 |