Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Partial duplication of the distal phalanx of the hallux, Abnormali... |
ORPHA:2669 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Banki Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carp... |
ORPHA:1228 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... |
OMIM:606895 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... |
ORPHA:3246 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... |
OMIM:105835 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
Distal Symphalangism |
|
Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the phalanges of the... |
ORPHA:3248 |
Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly |
OMIM:609428 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Occipital encephalocele |
OMIM:614416 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia, Cleft palate, Hand polydactyly |
OMIM:236110 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Lower limb undergrowth, Abnormality of femur morphology, Abnormal epiphysis morphology, Anal atresia |
ORPHA:2310 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pe... |
OMIM:184252 |
Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Cleft palate, Hand oligodactyly |
OMIM:172880 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment, Cone-shaped epiphysis, Bilateral single transverse palmar creases,... |
ORPHA:3237 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
OMIM:256690 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the ankles, Cuboidal me... |
ORPHA:968 |
Hirschsprung Disease |
|
Sensorineural hearing impairment, Constipation, Abdominal pain, Adducted thumb, Diarrhea, Intesti... |
ORPHA:388 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonatal death, Rena... |
OMIM:613390 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Patent ductus arteriosus, Death in infancy, ... |
OMIM:618845 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Orofaciodigital Syndrome Xvii |
|
Low-set ears, High, narrow palate, Micropenis, Partial duplication of thumb phalanx, Prominent me... |
OMIM:617926 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Hypoplasia of the radius, Absent scaphoid, Unilateral facial palsy, Ectopic kidney,... |
OMIM:617247 |
Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Microretrognathia, ... |
ORPHA:1307 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
Renal Hypoplasia |
|
Chronic kidney disease, Polydipsia, Unilateral renal agenesis, Abnormal renal tubule morphology, ... |
ORPHA:93101 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Cleft palate, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly |
ORPHA:2935 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Syndactyly, Hypoplasia of the ulna, Mesomelia, Renal cys... |
OMIM:228940 |
Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still... |
ORPHA:294975 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... |
OMIM:618395 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Short distal phalanx of finger,... |
ORPHA:93314 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... |
ORPHA:3104 |
Symphalangism, C. S. Lewis Type |
|
Synostosis involving the 1st metacarpal |
OMIM:185650 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... |
OMIM:127300 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis |
OMIM:309630 |
Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux, Agenesis of corpus callosum |
ORPHA:2512 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... |
OMIM:615993 |
Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Constipation, High, narrow palate, Cleft palate, Gastroesophageal reflux, Renal ... |
OMIM:618494 |
Juberg-Hayward Syndrome |
|
Abnormality of toe, Limited elbow extension, Horseshoe kidney, Anteriorly placed anus, Abnormalit... |
OMIM:216100 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Duplication involving bones of the feet |
OMIM:246000 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Hydrocephalus, Anal atresia, Hypoplasia of the radius, Oligodactyly, Rectovaginal f... |
ORPHA:3016 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Split-Hand/Foot Malformation 3 |
|
High palate, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodactyly, Renal hyp... |
OMIM:246560 |
Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna, Renal... |
OMIM:212780 |
Radial Aplasia, X-Linked |
|
Penile hypospadias, Anal atresia, Hydrocephalus, Absent radius |
OMIM:312190 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Oligodactyly, Finger syndactyly |
ORPHA:2440 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, S... |
OMIM:250420 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, E... |
OMIM:226980 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Avascular necrosis of the capital femoral epiphys... |
OMIM:611555 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... |
OMIM:185900 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Baller-Gerold Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagit... |
OMIM:218600 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Avascular necr... |
OMIM:304950 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Renal tubular epithelial necrosis, Acute kidney injury, Uric acid nephrolithiasis |
OMIM:220150 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Vacterl Association With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Renal hypoplasi... |
OMIM:276950 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Red-brown urine, Tubulointerstitial nephritis, Renal insufficiency, Renal tubular ... |
ORPHA:228302 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... |
OMIM:184253 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Micromelia, Synostosis of carpal bones, Upper limb u... |
ORPHA:93351 |
Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
High palate, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the... |
OMIM:276820 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Tibial Hemimelia |
|
Cleft palate, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux... |
ORPHA:93322 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, 11 pairs of ribs, Rhizomelia, Renal hypoplasia... |
OMIM:617661 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Short toe, Rhizo-meso-acromelic limb shortening, Short long bone... |
OMIM:611717 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... |
ORPHA:1275 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Cone-shaped epiphysi... |
ORPHA:457395 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... |
OMIM:228900 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Protruding ear, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of t... |
ORPHA:2256 |
Meier-Gorlin Syndrome 8 |
|
Micrognathia, Low-set ears, Renal hypoplasia, Microtia |
OMIM:617564 |
Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Microretrognathia, Cutan... |
OMIM:236500 |
Verheij Syndrome |
|
Feeding difficulties, Renal agenesis, Short 5th finger, Renal cyst, Renal hypoplasia, Clinodactyl... |
OMIM:615583 |
Desmoid Tumor |
|
Malabsorption, Abdominal pain, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal... |
ORPHA:873 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, A... |
ORPHA:2869 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Hydrocephalus, Urethral atresia, Tracheoesophageal fistula, Short humerus, Enlarged... |
OMIM:314390 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
Acrorenal Syndrome, Autosomal Recessive |
|
Split hand, Split foot, Renal hypoplasia, Decreased numbers of nephrons, Renal insufficiency, Cli... |
OMIM:201310 |
Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Vesicoureteral reflux |
OMIM:605192 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Optic disc coloboma, Renal dysplasia, Optic nerve dysplasia, Renal ... |
ORPHA:1475 |
Rhyns Syndrome |
|
Nephronophthisis, Hypoplastic ilia, Multicystic kidney dysplasia, Abnormal long bone morphology, ... |
ORPHA:140976 |
Tetramelic Monodactyly |
|
Split hand, Hand monodactyly, Foot monodactyly, Split foot |
OMIM:187510 |
Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Genu varum, Irre... |
OMIM:617974 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, S... |
OMIM:201170 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Oligodact... |
ORPHA:521308 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Hor... |
OMIM:274000 |
Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly |
OMIM:601355 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Protruding ear, 2-3 toe syndactyly, Cleft palate, Unilateral renal... |
OMIM:608572 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:611377 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Feeding difficulties in infancy, Renal cyst, Low-set ears, Epiphyseal s... |
OMIM:614870 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Elbow dis... |
ORPHA:2538 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thum... |
ORPHA:3258 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Aplasia/Hypoplasia of the mid... |
OMIM:185800 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Tubulointerstitial nephritis, Polycystic ... |
ORPHA:157 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Genu valgum, Anal atresia, Hypoplasia of penis |
ORPHA:1381 |
Bresek Syndrome |
|
Protruding ear, Cleft palate, Optic nerve hypoplasia, Hypoplasia of the bladder, Renal dysplasia,... |
ORPHA:85284 |
Abruzzo-Erickson Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Cleft palate, Hypospa... |
ORPHA:921 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
Say Syndrome |
|
Short distal phalanx of finger, Cleft palate, Proximal renal tubular acidosis, Ulnar deviation of... |
OMIM:181180 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia, Hydrocephalus |
OMIM:617244 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Triphalangeal thumb, Multicystic kidney dy... |
ORPHA:2091 |
Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Encephalocele, Sp... |
ORPHA:63862 |
Synostoses, Tarsal, Carpal, And Digital |
|
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... |
OMIM:186400 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly, Micropenis |
OMIM:615983 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... |
ORPHA:957 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Microtia, Renal agenesis, Hypospadias, Micropenis, Craniosynostosis, Micrognathia, Radioulnar syn... |
ORPHA:171839 |
Distal Monosomy 13Q |
|
Anal atresia, Holoprosencephaly, Abnormality of the hand, Anencephaly, Abnormal metacarpal morpho... |
ORPHA:1590 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Anal atresia, Nephropathy |
ORPHA:2408 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... |
OMIM:618435 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Short middle phalanx of finger, Anal atresia, Prominent metopic ridge |
OMIM:309620 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... |
ORPHA:2019 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Achondroplasia |
|
Conductive hearing impairment, Bowing of the legs, Trident hand, Flared metaphysis, Brachydactyly... |
OMIM:100800 |
Orofaciodigital Syndrome Vi |
|
High palate, Conductive hearing impairment, Mesoaxial hand polydactyly, Cleft palate, Postaxial p... |
OMIM:277170 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
Winchester Syndrome |
|
Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy |
OMIM:277950 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2487 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Ana... |
OMIM:607323 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Intestinal atresia, Short middle phalanx of the 2nd finge... |
OMIM:614326 |
Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the humerus, Abnormality ... |
ORPHA:1836 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Midshaft hypospadias, Micrognathia, Camptodactyly of finger, Brachydac... |
ORPHA:2863 |
Mungan Syndrome |
|
Barrett esophagus, Abdominal pain, Abnormality of the autonomic nervous system, Hypoperistalsis, ... |
OMIM:611376 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Anal atresia, Talipes equinovarus, Hypertrophy of the urinary bladder, Renal dysplasia, Renal hyp... |
OMIM:601389 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Crossed fused renal ectopia, Atresia of the external aud... |
ORPHA:2213 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:3268 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Oligomeganephronia |
|
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesi... |
ORPHA:2260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubulointerstitial... |
ORPHA:228308 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... |
OMIM:613091 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:2476 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Renal agenesis |
OMIM:601076 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Abnormal morphology of the radius |
ORPHA:3469 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... |
OMIM:193250 |
Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Small hand, Intestin... |
ORPHA:93259 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... |
OMIM:118100 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Anal atresia, Radial bowing, Hypoplasia of penis, Hand oligoda... |
ORPHA:2879 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, High palate, Cleft palate, Postaxial polydactyly, Short ribs, Hyp... |
OMIM:614091 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, Patent ductus arteriosus, Age... |
OMIM:618142 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... |
ORPHA:49041 |
Distal Monosomy 10P |
|
Ectopic anus, Anal atresia, Clinodactyly of the 5th finger, Hypoplasia of penis, Cleft palate, Mi... |
ORPHA:1580 |
Waardenburg-Shah Syndrome |
|
Constipation, Abdominal pain, Intestinal obstruction, Hearing impairment, Abnormal intestine morp... |
ORPHA:897 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst |
OMIM:615982 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Hearing abnormality, Protruding ear, Multicystic kidney dysplasia, Radioulnar synostosis |
ORPHA:3270 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, High palate, Hand oligodactyly, Absent thumb, Hypoplasia of the r... |
OMIM:602418 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Even-Plus Syndrome |
|
High palate, Epiphyseal dysplasia, Anal atresia, Microtia, Recurrent urinary tract infections, Re... |
OMIM:616854 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Congenital hip dislocation, Bilateral single transverse palmar cre... |
OMIM:133705 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gastroesophageal reflux, Hiatus hernia, Urinary urgency, Carpal bone hypoplasia, Urinary incontin... |
OMIM:601162 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Feeding difficulties,... |
OMIM:248910 |
Pallister-Hall Syndrome |
|
Cleft palate, Y-shaped metacarpals, Anteriorly placed anus, Radial head subluxation, Distal short... |
OMIM:146510 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... |
OMIM:311300 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the ankl... |
ORPHA:2010 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Renal insufficiency |
ORPHA:281090 |
Adams-Oliver Syndrome 6 |
|
Brachydactyly, Syndactyly, Renal hypoplasia, Esophageal varix, Foot oligodactyly |
OMIM:616589 |
Blepharo-Cheilo-Odontic Syndrome |
|
Bilateral cleft lip and palate, Anal atresia, Finger syndactyly |
ORPHA:1997 |
Feingold Syndrome Type 2 |
|
Brachydactyly, Short middle phalanx of finger, Jejunal atresia, Short thumb, Toe syndactyly |
ORPHA:391646 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea, V... |
ORPHA:85450 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Cleft palate, Abnormal vertebral seg... |
ORPHA:2345 |
Pfeiffer Syndrome Type 3 |
|
High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Small hand, Intestinal malrotation,... |
ORPHA:93260 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly |
OMIM:615665 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Chronic tubulointerstitial nephritis, Metaphyseal widening, Brachydactyly, Rhiz... |
OMIM:614376 |
Craniodiaphyseal Dysplasia |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy, Diaphyseal... |
ORPHA:1513 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Micropenis |
OMIM:244200 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Sensorineural hearing impairment, Feeding difficulties, Short fourth metatarsal, Brachydactyly, R... |
ORPHA:464288 |
Tenosynovial Giant Cell Tumor |
|
Conductive hearing impairment, Joint swelling, Abnormality of the auditory canal, Chondrocalcinos... |
ORPHA:66627 |
Thymic Aplasia With Fetal Death |
|
Renal agenesis, Stillbirth, Ureteral agenesis |
OMIM:274210 |
Cat-Eye Syndrome |
|
Anal atresia, Hip dysplasia, Hydronephrosis |
ORPHA:195 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Abdominal distention, Cleft palate, Micromel... |
ORPHA:85166 |
Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Congenital hip dislocation, Renal steatosis, Microtia, Unilateral rena... |
OMIM:113650 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Opti... |
OMIM:609053 |
Baller-Gerold Syndrome |
|
High palate, Conductive hearing impairment, Anal atresia, Aplasia/Hypoplasia of the thumb, Malabs... |
ORPHA:1225 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias |
OMIM:600057 |
Sirenomelia |
|
Anal atresia, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Absence o... |
ORPHA:3169 |
Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Renal tubular acidosis, Feeding difficulties, Renal dysplasia, Renal cy... |
OMIM:614922 |
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
2-3 toe syndactyly, 2-4 finger syndactyly |
OMIM:227210 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Microtia, Small thenar eminence,... |
OMIM:239800 |
Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Finger syndac... |
ORPHA:376 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Cleft palate, Craniosynostosis, Short tibia, Micrognath... |
OMIM:251230 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy |
ORPHA:3033 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
Ivic Syndrome |
|
Anal atresia, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Ra... |
ORPHA:2307 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, Renal hypoplasia, Low-set ears, Posteriorly rotated ears |
OMIM:612946 |
Rhombencephalosynapsis |
|
Anal atresia, Hydrocephalus, Microretrognathia, Tracheoesophageal fistula, Polydactyly, Short pha... |
ORPHA:59315 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Hand monodactyly, Split foot |
OMIM:183800 |
Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Patent ductus arteriosus, Recurrent urinary tract infections, Horsesho... |
OMIM:613680 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal agenesis, Micrognathia, Bifid uvula, Renal hypoplasia, Rocker bottom f... |
OMIM:616258 |
Emanuel Syndrome |
|
High palate, Anal atresia, Constipation, Gastroesophageal reflux, Cleft palate, Micropenis, Renal... |
OMIM:609029 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Talipes equinovarus, Abnormal auditory evoked potentia... |
OMIM:601382 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impairment, Symphalangis... |
OMIM:186500 |
Carney-Stratakis Syndrome |
|
Abdominal pain, Gastrointestinal stroma tumor, Tinnitus, Intestinal obstruction, Dysphagia, Gastr... |
ORPHA:97286 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Hypospadias, Radioulnar synostosis, Hammertoe, A... |
ORPHA:2319 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hyperechogenic kidneys |
OMIM:617914 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Poor suck, Micrognathia, Camptodactyly, Renal hypoplasia, 3-Methylglutaconic acidu... |
OMIM:604273 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Constipation, Abdominal distention, Macroglossia, Tracheoesophageal fistula, Opt... |
ORPHA:442 |
Multiple Osteochondromas |
|
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... |
ORPHA:321 |
Feingold Syndrome Type 1 |
|
Horseshoe kidney, Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Gastrointestinal at... |
ORPHA:391641 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Unilateral renal agenesis, Patent ductus arteriosus |
OMIM:608406 |
Cloacal Exstrophy |
|
Myelomeningocele, Anal atresia, Talipes equinovarus, Hypoplasia of penis, Ureterocele, Intestinal... |
ORPHA:93929 |
Distal Trisomy 15Q |
|
High palate, Anal atresia, Arachnodactyly, Micrognathia, Camptodactyly of finger |
ORPHA:1707 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, High palate, EEG abnormali... |
OMIM:617519 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Anal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Micrognathia, Hypoplasia o... |
OMIM:600123 |
Infantile Myofibromatosis |
|
Abnormality of the kidney, Tracheoesophageal fistula, Chondrocalcinosis, Intestinal obstruction, ... |
ORPHA:2591 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Cleft palate, Split foot, Micrognathia, Split hand, Toe syndactyly |
OMIM:183700 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Delayed cranial suture closure, Sy... |
OMIM:113000 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... |
ORPHA:380 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... |
ORPHA:370010 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Micromelia, Abnormality of the ankles, Abnormality of the humeru... |
ORPHA:2496 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
Fanconi Anemia, Complementation Group W |
|
Hypoplasia of the radius, Duodenal atresia, Renal hypoplasia, Absent thumb |
OMIM:617784 |
Fanconi Anemia, Complementation Group D1 |
|
Anal atresia, Short thumb |
OMIM:605724 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Micrognathia, Glossoptosis, Bilateral conductive hearing... |
OMIM:615706 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
High palate, Gastroesophageal reflux, Aminoaciduria, Micrognathia, Congenital hip dislocation, Op... |
OMIM:617913 |
Ritscher-Schinzel Syndrome 1 |
|
Anal atresia, Hydrocephalus, Cleft palate, Hypospadias, Micrognathia, Syndactyly, Missing ribs, H... |
OMIM:220210 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Hypospadias, Polydactyly, Hypoplastic ischia, Low-set ears |
OMIM:616910 |
Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Short clavicles, High palate, Ta... |
OMIM:601390 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Talipes equinovarus, Cleft palate, Micropenis, Congenital hip dislocation, Multicyst... |
OMIM:300209 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Anal atresia, Abnormality of toe, Intestinal atresia, Small hand, Hypospadias, ... |
ORPHA:94065 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis |
OMIM:609757 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Duodenal atresia, Absent thumb, Microtia, Hypoplasia of the radius... |
OMIM:603467 |
Deafness And Myopia |
|
Conductive hearing impairment, Profound hearing impairment, Hematuria, Proteinuria |
OMIM:221200 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of fingers, Clin... |
ORPHA:3082 |
Ulnar-Mammary Syndrome |
|
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... |
ORPHA:3138 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Cleft Velum |
|
Conductive hearing impairment, Nasal regurgitation, Velopharyngeal insufficiency, Poor suck, Recu... |
ORPHA:99772 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cleft palate, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndac... |
DECIPHER:46 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Hydronephrosis, Split hand, Cu... |
OMIM:183802 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment, Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu... |
OMIM:132450 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Unilateral renal agenesis, Agenesis of corpus callosum |
OMIM:616362 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Joint contracture of the 4th finger, Small thenar eminence, Cupped ear, Micro... |
OMIM:618914 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Caudal Regression Syndrome |
|
Anal atresia, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovarus, ... |
ORPHA:3027 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of femur morphology, Anal atresia, Narrow palate, Micrognathia, Abnormality of the up... |
ORPHA:2063 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Hypoglossia-Hypodactyly Syndrome |
|
Short distal phalanx of finger, High palate, Anal atresia, Aplasia/Hypoplasia of the tongue, Clef... |
ORPHA:989 |
Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Conductive hearing impairment, Ectrodactyly, Microtia, Stenosis of the external auditory canal, U... |
ORPHA:2878 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Ge... |
ORPHA:166024 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Cornelia De Lange Syndrome 1 |
|
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Otitis media, Hypo... |
OMIM:122470 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Conductive hearing impairment, Bowing of the long bones |
OMIM:174810 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Feeding difficulties in infancy, Low-set ears, Polycystic kidney dysplasia, Epiphyseal stippling |
OMIM:614859 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Renal hypoplasia/ap... |
ORPHA:2792 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sensorineural hearing impairment, Micrognathia, Down-sloping shoulders, Renal hypoplasia, Macroti... |
OMIM:616817 |
Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Short clavicles, High palate, Ta... |
OMIM:615546 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Sensorineural hearing impairment, Slender long bones with narrow diaphyses, Metaphyseal striation... |
OMIM:608154 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anal atresia, Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Anteriorly pl... |
ORPHA:1352 |
Fatco Syndrome |
|
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... |
ORPHA:2492 |
Mucolipidosis Ii Alpha/Beta |
|
Craniosynostosis, Bullet-shaped phalanges of the hand, Enlarged kidney, Varus deformity of humera... |
OMIM:252500 |
Bnar Syndrome |
|
Anal stenosis, Anteriorly placed anus, Abnormality of the 5th toe |
ORPHA:217266 |
Dihydropyrimidinase Deficiency |
|
Anal atresia, Talipes equinovarus, Short phalanx of finger |
OMIM:222748 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Craniorachischisis |
|
Myelomeningocele, Anal atresia, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphis... |
ORPHA:63260 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... |
OMIM:112450 |
Rhyns Syndrome |
|
Conductive hearing impairment, Chronic kidney disease, Radial bowing, Nephronophthisis, Brachydac... |
OMIM:602152 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Absence of renal corticomedullary differentiation, Hepatic failur... |
OMIM:619758 |
Summitt Syndrome |
|
Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Prominent metopic ridg... |
ORPHA:3210 |
Braddock Syndrome |
|
Unilateral renal agenesis |
ORPHA:52047 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis, Encephalocele |
OMIM:614465 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Bilateral renal atrophy, Metatarsal osteolysis, Micrognathia, Bilate... |
OMIM:166300 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Dislocated radial head, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossification of carp... |
OMIM:617425 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Vesicoureteral reflux |
OMIM:606408 |
Cleft Palate, Deafness, And Oligodontia |
|
Sandal gap, Bilateral conductive hearing impairment, Short hallux, Cleft soft palate |
OMIM:216300 |
Distal Trisomy 6P |
|
Micrognathia, Abnormality of the urinary system, Renal hypoplasia, Abnormal antitragus morphology... |
ORPHA:1745 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Brachydactyly, Posteriorly rotated ears, Macrotia |
OMIM:618392 |
Marden-Walker Syndrome |
|
High palate, Talipes equinovarus, Joint contracture of the hand, Cleft palate, Micropenis, Arachn... |
OMIM:248700 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, Multicystic kidney d... |
ORPHA:79404 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Small hand, Micrognathia, External ear malformation, Low-set, posteriorly ro... |
ORPHA:2323 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... |
ORPHA:320401 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Clinodactyly of the 5th fi... |
OMIM:221320 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Cleft palate, Ureteral obstruction, Limitatio... |
ORPHA:1826 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of th... |
ORPHA:363444 |
Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Multiple small medullary renal cysts, En... |
OMIM:216360 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, High palate, Ectopic anus, Anal atresia, Cleft palate, Glandular hyposp... |
ORPHA:2473 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Horseshoe kidney, F... |
OMIM:617641 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Enlarged kidney, Renal in... |
OMIM:619902 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Blad... |
ORPHA:959 |
Vacterl/Vater Association |
|
Anal atresia, Hypoplasia of penis, Cleft palate, Preaxial hand polydactyly, Hypospadias, Abnormal... |
ORPHA:887 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Hydrocephalus, Gastroesophageal reflux, Morphological abnormality of the gastrointe... |
ORPHA:1834 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Patent ductus arteriosus, Renal i... |
OMIM:615382 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Talipes equinovarus, Intestinal atresia, Intestinal malro... |
ORPHA:2970 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Microt... |
OMIM:171480 |
Cat-Eye Syndrome (Type I) |
|
Micrognathia, Anal atresia |
DECIPHER:42 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Overlapping toe, Anal atresia, Talipes equinovarus, Distally placed thumb, Micrognat... |
OMIM:619148 |
Genitopalatocardiac Syndrome |
|
Cleft palate, Hypospadias, Micrognathia, Renal cyst, Low-set ears |
OMIM:231060 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Advanced ossification of carpal bones, Microretrognathia, Knee dislocation, Cleft pa... |
OMIM:618363 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Ectopic anus, Microretrognathia, Cleft palate, Arachnodactyly, Ca... |
ORPHA:2994 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Cleft palate, Abnormal vertebral segmentation and fusion, Synosto... |
ORPHA:90650 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:615397 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... |
ORPHA:2741 |
Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Micr... |
OMIM:614175 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Multiple renal cysts, Feeding diff... |
ORPHA:2924 |
Femoral-Facial Syndrome |
|
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft ... |
ORPHA:1988 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon, Hydronephrosis |
OMIM:235760 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Renal hypoplasia/aplasia, Cleft palate, Stenosis of the e... |
ORPHA:107 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly |
OMIM:225280 |
Emanuel Syndrome |
|
High palate, Anal atresia, Ectopic anus, Severe hearing impairment, Constipation, Cleft palate, M... |
ORPHA:96170 |
Waardenburg Syndrome |
|
Myelomeningocele, Conductive hearing impairment, Aplasia/Hypoplasia of the colon, Abnormality of ... |
ORPHA:3440 |
Prune Belly Syndrome |
|
Anal atresia, Talipes equinovarus, Hydroureter, Congenital hip dislocation, Xerostomia, Hydroneph... |
OMIM:100100 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Clubbing of fingers, A... |
OMIM:226300 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy |
OMIM:617056 |
Townes-Brocks Syndrome 1 |
|
Tracheoesophageal fistula, Anal atresia, Microtia, Rectoperineal fistula, 3-4 finger syndactyly, ... |
OMIM:107480 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hematuria, Renal insufficiency, Decreased urine output, Renal tubular ... |
ORPHA:31826 |
Aplasia Cutis Congenita |
|
Spinal dysraphism, Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Hyperechogenic kidneys, Patent ductus arteriosus, Death in infancy, Pr... |
OMIM:614576 |
Carpenter Syndrome 1 |
|
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, O... |
OMIM:201000 |
3C Syndrome |
|
Ectopic anus, Anal atresia, Hydrocephalus, Gastroesophageal reflux, Hypoplasia of penis, Cleft pa... |
ORPHA:7 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing... |
OMIM:184460 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Aquedu... |
ORPHA:1788 |
Meier-Gorlin Syndrome 7 |
|
High palate, Bowing of the legs, Anal atresia, 2-3 toe syndactyly, Cleft palate, Craniosynostosis... |
OMIM:617063 |
Seckel Syndrome 7 |
|
Clinodactyly, Hip dysplasia, Madelung deformity, Abnormal carpal morphology |
OMIM:614851 |
Fraser Syndrome 2 |
|
Aplasia of the bladder, Abdominal distention, Renal agenesis, Cutaneous syndactyly, Renal hypoplasia |
OMIM:617666 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Renpenning Syndrome |
|
Anal atresia, Clinodactyly of the 5th finger, High, narrow palate, Cleft palate, Hypospadias, Abn... |
ORPHA:3242 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Abnormality of the kidney, Horseshoe kidney, Ectopic kidney |
ORPHA:3109 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Abnormality of the outer ear |
OMIM:248390 |
Camptobrachydactyly |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... |
ORPHA:1319 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Genu recurvatum, Delayed... |
OMIM:184260 |
Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Talipes equinovarus, Microtia, Hypospadias, Micrognathia, Syndacty... |
ORPHA:314679 |
Sclerosteosis |
|
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand |
ORPHA:3152 |
Trisomy 1Q |
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Anal atresia, Hydrocephalus, Microretrognathia, Cleft palate, Congenital megaureter, Arachnodacty... |
ORPHA:261344 |
Kallmann Syndrome With Spastic Paraplegia |
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Unilateral renal agenesis, Micropenis |
OMIM:308750 |
Chromosome 17Q12 Deletion Syndrome |
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High palate, Ovarian cyst, Hypoplasia of the bladder, Upper limb undergrowth, Stage 5 chronic kid... |
OMIM:614527 |
Renal Cysts And Diabetes Syndrome |
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Nephrolithiasis, Unilateral renal agenesis, Hypospadias, Abnormality of the kidney, Glycosuria, A... |
OMIM:137920 |
Progeroid Facial Appearance With Hand Anomalies |
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Conductive hearing impairment, Protruding ear, Clinodactyly of the 5th finger, Arachnodactyly, Lo... |
OMIM:602249 |
Renal Dysplasia |
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Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
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Sensorineural hearing impairment, Hypoplasia of penis, Micrognathia, Renal dysplasia, Renal hypop... |
ORPHA:85321 |
Papillorenal Syndrome |
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Nephrolithiasis, Sensorineural hearing impairment, Chronic kidney disease, Absence of renal corti... |
OMIM:120330 |
Carpenter Syndrome |
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Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand pol... |
ORPHA:65759 |
Chromosome 3Pter-P25 Deletion Syndrome |
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High palate, Overlapping toe, Anal atresia, Gastroesophageal reflux, Postaxial polydactyly, Micro... |
OMIM:613792 |
Cardiospondylocarpofacial Syndrome |
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Conductive hearing impairment, High, narrow palate, Brachydactyly, Synostosis of carpal bones, Sh... |
ORPHA:3238 |
Oculocerebrodental Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Metaphyseal dysplasia, Short 5th... |
ORPHA:557003 |
Hemifacial Microsomia With Radial Defects |
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Conductive hearing impairment, Cleft palate, Microtia, Short mandibular rami, Atresia of the exte... |
OMIM:141400 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Absence of renal corticomedullary differentiation, Neonatal death, Tubulointerstitial fibrosis, E... |
OMIM:263200 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Anal atresia, Unicoronal synostosis, Microretrognathia, Cleft palate, Postaxial polydactyly, Prea... |
OMIM:616300 |
Acrocardiofacial Syndrome |
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Anal atresia, Joint dislocation, Hypoplasia of penis, Cleft palate, Split foot, Hypospadias, Camp... |
ORPHA:2008 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
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Epiphyseal dysplasia, Fragmented epiphyses, Metaphyseal irregularity, Flat capital femoral epiphy... |
ORPHA:93360 |
Ulnar/Fibular Ray Defect And Brachydactyly |
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Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... |
OMIM:608571 |
Laurin-Sandrow Syndrome |
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Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
Curry-Jones Syndrome |
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Craniosynostosis, Intestinal malrotation, Cutaneous syndactyly of toes, Syndactyly, Duplication o... |
OMIM:601707 |
Adams-Oliver Syndrome 3 |
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Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... |
OMIM:614814 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Sensorineural hearing impairment, Bifid uvula, Renal hypoplasia, Absence of the sacrum, Incomplet... |
OMIM:617660 |
Fibrodysplasia Ossificans Progressiva |
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Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... |
OMIM:135100 |
Ossicular Malformations, Familial |
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Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Endove Syndrome, Limb-Only Type |
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Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Protruding ear, Constipation, Arachnodactyly, Multicystic kidney dysplasia, Fetal megacystis, Int... |
ORPHA:73246 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Nephronophthisis 9 |
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Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Joubert Syndrome 20 |
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Renal cyst, Syndactyly, Postaxial polydactyly |
OMIM:614970 |
Eosinophilic Granulomatosis With Polyangiitis |
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Malabsorption, Gastroesophageal reflux, Abdominal pain, Hematuria, Arthritis, Intestinal obstruct... |
ORPHA:183 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Clinodactyly of the 5th finger, Cleft palate, Feeding difficulties, Micrognathia, Hearing impairm... |
OMIM:618454 |
Familial Mediterranean Fever |
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Malabsorption, Nephrotic syndrome, Constipation, Abdominal pain, Acute hepatic failure, Osteoarth... |
ORPHA:342 |
Rubinstein-Taybi Syndrome 2 |
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High palate, Narrow palate, Intestinal malrotation, Micrognathia, Syndactyly, Broad hallux, Broad... |
OMIM:613684 |
Distal Monosomy 10Q |
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High palate, Prominent fingertip pads, Craniosynostosis, Cleft palate, Tapered finger, Single tra... |
ORPHA:96148 |
Opitz-Kaveggia Syndrome |
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Hydrocephalus, Prominent fingertip pads, Cleft palate, Broad hallux, Single transverse palmar cre... |
OMIM:305450 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Ectopic anus, Aplasia/Hypoplasia of the distal phalanges of the hand, Cleft palate, Aplasia/Hypop... |
ORPHA:94066 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
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High palate, Conductive hearing impairment, Dislocated radial head, Talipes equinovarus, Feeding ... |
OMIM:602471 |
Burkitt Lymphoma |
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Intestinal obstruction, Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain |
ORPHA:543 |
Microphthalmia With Limb Anomalies |
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High palate, Tibial bowing, Talipes equinovarus, Hand oligodactyly, Cleft palate, Camptodactyly o... |
OMIM:206920 |
Terminal Osseous Dysplasia |
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Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... |
OMIM:300244 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
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Hypospadias, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis |
ORPHA:1046 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
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Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hydrou... |
ORPHA:2973 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
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Lower limb undergrowth, Delayed ossification of carpal bones, Short phalanx of finger, Short lowe... |
OMIM:127200 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
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Short toe, Syndactyly |
OMIM:612581 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Unilateral renal agenesis |
ORPHA:1064 |
Ulnar Agenesis And Endocardial Fibroelastosis |
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Aplasia of the ulna, Neonatal death, Hand oligodactyly |
OMIM:276822 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Coxa vara, Metaphyseal dysplasia, Osteoarthritis, Broad femoral neck, Upper limb undergrowth, Bro... |
OMIM:271650 |
Meckel Syndrome 13 |
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Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:617562 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Clinodactyly of the 5th finger, Finger syndactyly, Micrognathia, Cupped ear,... |
ORPHA:264200 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Alagille Syndrome 2 |
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Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Medullary cystic kidney disease 2 |
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Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Otopalatodigital Syndrome, Type Ii |
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Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Rud... |
OMIM:304120 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Acrocraniofacial Dysostosis |
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Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Craniosynostosis, ... |
OMIM:201050 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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