Liebenberg Syndrome |
|
2-3 finger syndactyly, Metaphyseal widening, Joint contracture of the 5th finger, Abnormal carpal... |
OMIM:186550 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma... |
ORPHA:93321 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Hypoplastic left heart, Muscular ventricular septal defect |
OMIM:614474 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Short middle phalanx of fi... |
OMIM:182255 |
Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges ... |
OMIM:600593 |
Brachydactyly, Type C |
|
Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ... |
OMIM:113100 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of patellae, Osteolysis of scaphoids, Osteolysis of talus, Short 4th metacarpal, Enlar... |
ORPHA:50809 |
Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Aplasia/Hypoplasia of the fibula, Abnormal carpal morphology, Abnormal... |
ORPHA:2632 |
Non-Syndromic Anorectal Malformation |
|
Rectal fistula, Hydrocolpos, Anal atresia, Persistent cloaca, Rectourethral fistula, Myelomeningo... |
ORPHA:557 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Postaxial Oligodactyly, Tetramelic |
|
Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat... |
OMIM:176240 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles,... |
ORPHA:3216 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... |
OMIM:607078 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... |
OMIM:609655 |
Acromesomelic Dysplasia 2C |
|
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... |
OMIM:201250 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... |
OMIM:186300 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Partial duplication of the distal phalanx of the hallux, Conductive hearing impai... |
ORPHA:2669 |
Lowe-Kohn-Cohen Syndrome |
|
Anal atresia, Nephropathy, Sensorineural hearing impairment, Anorectal anomaly |
ORPHA:2408 |
Sugarman Brachydactyly |
|
Double first metacarpals, Proximal placement of hallux, Symphalangism affecting the proximal phal... |
OMIM:272150 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Unilateral renal agenesis, Aganglionic megacolon, Hearing impairment |
OMIM:235740 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Arthropathy, Short middle phalanx of finger, Brachytelomesophalan... |
OMIM:606835 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Hip dislocation, Bilateral single transverse palmar creases, Short thumb, Abnormally shaped carpa... |
ORPHA:968 |
Brachydactyly, Type A1 |
|
Broad metacarpal epiphyses, Short distal phalanx of finger, Radial deviation of the 4th finger, R... |
OMIM:112500 |
Anus, Imperforate |
|
Hypospadias, Anal atresia, Ectopic anus, Hearing impairment |
OMIM:301800 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Brachydactyly, Microretrognathia, 2-3 toe syndactyly, Multinucle... |
OMIM:236500 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Leri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Abnormal metatarsal morphology, Increased carrying angle, Abnormal ca... |
OMIM:127300 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot |
OMIM:313350 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Monkey wrench femoral ne... |
OMIM:617719 |
Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov... |
OMIM:615072 |
Sacral Agenesis With Vertebral Anomalies |
|
Anal atresia, Persistent cloaca, Unilateral renal agenesis, Neonatal death, Absence of the sacrum |
OMIM:615709 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Pseudoepiphyses of... |
OMIM:105835 |
Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles... |
OMIM:221300 |
Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Type A brachydactyly, Broad distal hallux, Short middle phalanx o... |
OMIM:607004 |
Burn-Mckeown Syndrome |
|
Bilateral choanal atresia/stenosis, Inguinal hernia, Conductive hearing impairment, Prominent nas... |
OMIM:608572 |
Pseudoachondroplasia |
|
Wind-swept deformity of the knees, Increased laxity of ankles, Osteoarthritis, Irregular epiphyse... |
ORPHA:750 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Small thenar eminence, Conductive hearing impairment, Aplasia/Hyp... |
ORPHA:3246 |
Brachydactyly Type B |
|
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... |
ORPHA:93383 |
Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Total anomalous pulm... |
OMIM:613854 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Anal atresia, Polycystic ovaries, Abnormality ... |
ORPHA:1580 |
Brachydactyly Type A2 |
|
Type A2 brachydactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle p... |
ORPHA:93396 |
Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Low-set ears, Anteriorly placed anus, Chronic kidney disease, Rhizomelia, Unilateral renal agenes... |
OMIM:617661 |
Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Short middle phalanx of finger, Osteoarthritis of the small joint... |
ORPHA:85169 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Hypogonadism, External genital hypoplasia, Postaxial polydactyly, Renal insuffici... |
OMIM:615996 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Ectopic kidney, Unilateral renal agenesis, Hypoplasia of the uteru... |
OMIM:601076 |
Acromesomelic Dysplasia 2B |
|
Deviation of finger, Absent toe, Short metatarsal, Short metacarpal, Patellar dislocation, Brachy... |
OMIM:228900 |
Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Low-set ears, Prominent metopic ridge, Retrognathia, Micropenis, Polydactyly, Centr... |
OMIM:617926 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal joint morphology, Abnormal metaphysis morphology, Short metatarsal, Short metacarpal, Sy... |
ORPHA:93351 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Split foot, Vaginal fistula, Persistent cloaca, Finger syndactyly, Renal hypoplasia/aplasia, Abno... |
ORPHA:1112 |
Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Bresek Syndrome |
|
Low-set ears, Cryptorchidism, Decreased testicular size, Hypoplasia of the bladder, Protruding ea... |
ORPHA:85284 |
Hypertension And Brachydactyly Syndrome |
|
Type E brachydactyly, Short phalanx of finger, Short metacarpal, Cone-shaped epiphysis |
OMIM:112410 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Oligodactyly, Cleft palate, Microglossia, Abnormal morphology of ulna, Proteinuria, Low-set, post... |
ORPHA:1307 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Depressed nasal tip, Low-set ears, Cryptorchidism, Anal atresia, High palate, Camptodactyly of fi... |
ORPHA:2863 |
Tarsal-Carpal Coalition Syndrome |
|
Short finger, Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, ... |
OMIM:186570 |
Ivic Syndrome |
|
Short thumb, Hearing impairment, Carpal synostosis, Short 1st metacarpal, Triphalangeal thumb, Hy... |
OMIM:147750 |
Branchiootorenal Syndrome 1 |
|
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Bifid uvula, Cleft pala... |
OMIM:113650 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:614429 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Low-set ears, Cryptorchidism, Micropenis, Hydrocephalus, Umbilical hernia, Shor... |
ORPHA:171839 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Short distal phalanx of finger, Absent trapezoid bone, Distal foot symphalangism, Absent trapeziu... |
OMIM:606895 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... |
ORPHA:140908 |
Banki Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5t... |
ORPHA:1228 |
Cat-Eye Syndrome |
|
Hydronephrosis, Anal atresia, Hip dysplasia, Renal hypoplasia/aplasia, Hearing impairment, Abnorm... |
ORPHA:195 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the humerus, Short tibia, Madelung deformity, Dorsal subluxation of ulna, Diaphyse... |
ORPHA:240 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasi... |
OMIM:617974 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Shawl scrotum, Cryptorchidism, Aplasia of the proximal phalanges of the hand, Protruding ear, Apl... |
ORPHA:2256 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hip dysplasia, Hearing impairment, Cleft palate, Hydronephrosis, Cryptorchidism, Overlapping toe,... |
OMIM:618494 |
Meier-Gorlin Syndrome 8 |
|
Low-set ears, Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism, Micrognathia, ... |
OMIM:617564 |
Baller-Gerold Syndrome |
|
Bicoronal synostosis, Oligodactyly, Abnormality of the kidney, Bifid uvula, Aplasia of metacarpal... |
OMIM:218600 |
Right Atrial Isomerism |
|
Situs inversus totalis, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Tetralogy of ... |
OMIM:208530 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Isolated Klippel-Feil Syndrome |
|
Anal atresia, Abnormal cranial nerve morphology, Spina bifida, Renal hypoplasia/aplasia, Cleft pa... |
ORPHA:2345 |
Cardiomyopathy, Dilated, 2D |
|
Interstitial cardiac fibrosis, Perinuclear cardiomyocyte vacuolization, Right atrial enlargement,... |
OMIM:619371 |
Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Low-set ears, High palate, Retrognathia, Micropenis, Ambiguous genitalia, Preaxial polydactyly, O... |
OMIM:618142 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Anencephaly, Cleft palate, Ectop... |
ORPHA:2476 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment, Broad thumb, Short palm, Symphalangism affecting the phalanges of ... |
ORPHA:3237 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the inner e... |
ORPHA:2549 |
Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
Pseudoachondroplasia |
|
Short distal phalanx of finger, Radial metaphyseal irregularity, Osteoarthritis, Irregular epiphy... |
OMIM:177170 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Anal atresia, High palate, Atopic dermatitis, Bifid nasal tip... |
OMIM:616854 |
Emanuel Syndrome |
|
Inguinal hernia, Chronic oral candidiasis, Hearing impairment, Cleft palate, Recurrent urinary tr... |
OMIM:609029 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Finger joint hypermobility, Micropenis, Unilateral renal agenesis, Hyposmia, Clef... |
OMIM:244200 |
Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Abnormal pinna morphology, Cleft palate, Microretrognathia, Split han... |
OMIM:246560 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the humerus, Aplasia/Hypoplasia of t... |
ORPHA:1275 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia, Renal hypoplasia/aplasia, Abnormality of the middle ear ossicles, Hearing impair... |
OMIM:267400 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Anal atresia, Oligohydramnios, Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal nasal morphology, Phocomelia, Aplasia/Hypoplasia of t... |
ORPHA:245 |
Distal Symphalangism |
|
Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the phalanges of the... |
ORPHA:3248 |
Proximal Symphalangism |
|
Elbow ankylosis, Camptodactyly of finger, Proximal symphalangism, Abnormality of the wrist, Synos... |
ORPHA:3250 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon... |
OMIM:276820 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, Short 5th metacarpal, 2-3 toe cutaneous syndactyly, Clinodactyly of th... |
OMIM:309630 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Abnormal antih... |
ORPHA:79113 |
46,Xy Sex Reversal 4 |
|
Hydronephrosis, Anal atresia, High palate, Agonadism, Depressed nasal ridge, Ureteropelvic juncti... |
OMIM:154230 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Absent phalangeal crease, Aplasia/Hypoplasia of the distal phalan... |
OMIM:611377 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Abnormal renal morphology, Broad nasal tip, Prominent metopic ridge, Hearing impairment, Overfold... |
OMIM:613792 |
Duane-Radial Ray Syndrome |
|
Short thumb, Horseshoe kidney, Aplasia of metacarpal bones, Choanal atresia, Shoulder dislocation... |
OMIM:607323 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Conductive hearing impairment, Mixed hearing impairment, Abnormality o... |
OMIM:118100 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ... |
OMIM:128980 |
Bor Syndrome |
|
Hydronephrosis, External ear malformation, Retrognathia, Abnormality of the middle ear ossicles, ... |
ORPHA:107 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Anal atresia, Cryptorchidism, Small thenar eminence, Stage 5 chronic kidney disea... |
OMIM:613390 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Choanal ... |
ORPHA:949 |
Meckel Syndrome 12 |
|
Antecubital pterygium, Low-set ears, Bifid uvula, Hypoplasia of the uterus, Micrognathia, Antever... |
OMIM:616258 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Long nose, Anal atresia, Abnormality of the kidney, Retrognat... |
ORPHA:363444 |
Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
ORPHA:93409 |
Juberg-Hayward Syndrome |
|
Limited elbow extension, Abnormal toe morphology, Aplasia/Hypoplasia of the thumb, Abnormality of... |
OMIM:216100 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Arthropathy, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Osebold-Remondini Syndrome |
|
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia... |
OMIM:112910 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Aplasia of metacarpal bones... |
OMIM:610797 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal morphology of female internal genitalia, Morphological abnormality of the gastrointestin... |
ORPHA:1834 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Camptodactyly, Hip dislocation, Tapered finger, Brachydactyly, Shor... |
OMIM:618435 |
15Q24 Microdeletion Syndrome |
|
Anal atresia, Cryptorchidism, Wide nasal base, Prominent nasal bridge, Microphallus, Myelomeningo... |
ORPHA:94065 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Single transverse palmar crease, Bicoronal synostosis, Low-set ears, Cryptorchidism, Camptodactyl... |
OMIM:619951 |
Pfeiffer Syndrome Type 3 |
|
Horseshoe kidney, Choanal atresia, Hearing impairment, Cleft palate, Toe syndactyly, Broad thumb,... |
ORPHA:93260 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Optic atrophy, Diaphyseal thickening, Stenosis of the external aud... |
ORPHA:1513 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, High palate, Broad nasal tip, Hypogonadism, Un... |
ORPHA:3306 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
High palate, Conductive hearing impairment, Joint contracture of the 5th finger, Underdeveloped n... |
OMIM:248910 |
Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Conductive hearing impairment, Bilateral cleft lip and palate, Finger syndactyly, C... |
ORPHA:1997 |
Hadziselimovic Syndrome |
|
Low-set ears, High palate, Anal atresia, Prominent nasal bridge, Posteriorly rotated ears, Anteve... |
OMIM:612946 |
Rhombencephalosynapsis |
|
Abnormal renal morphology, Esophageal atresia, Low-set, posteriorly rotated ears, Anal atresia, P... |
ORPHA:59315 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Metaphyseal irregularity, Sma... |
OMIM:603546 |
Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Hydronephrosis, Cryptorchidism, High palate, Broad nasal tip, Hydrocephalus... |
OMIM:609757 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Abnormality of the inner ear, Atresia of the external auditory can... |
ORPHA:52429 |
Holzgreve Syndrome |
|
Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate |
OMIM:236110 |
Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Horseshoe kidney, Microgastri... |
ORPHA:2538 |
Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Increased size of the clitoris, Abnormal metacarpophalangeal joint morphology, A... |
ORPHA:95699 |
Congenital Heart Defects, Multiple Types, 4 |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de... |
OMIM:615779 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Hydranencephaly, Underdeveloped nasal alae, Unilateral renal agen... |
OMIM:601355 |
Emanuel Syndrome |
|
Inguinal hernia, Bifid uvula, Severe hearing impairment, Hearing impairment, Cleft palate, Crypto... |
ORPHA:96170 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Horseshoe kidney, Cleft palate, Patellar dislocation, Seborrheic de... |
OMIM:274000 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... |
OMIM:142900 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Trisomy 1Q |
|
Camptodactyly of finger, Ambiguous genitalia, Cleft palate, Toe syndactyly, Preaxial hand polydac... |
ORPHA:261344 |
Renpenning Syndrome |
|
Anal atresia, Decreased testicular size, Round ear, Mandibular prognathia, Cleft palate, High, na... |
ORPHA:3242 |
Non-Syndromic Genetic Deafness |
|
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... |
ORPHA:87884 |
Distal Deletion 13Q |
|
Encephalocele, Anal atresia, Ambiguous genitalia, Renal hypoplasia/aplasia, Holoprosencephaly, Ab... |
ORPHA:1590 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Low-set ears, Broad nasal tip, Conductive hearing impairment, Camptodactyly,... |
OMIM:136760 |
Acrofacial Dysostosis 1, Nager Type |
|
Hip dislocation, Cleft palate, Toe syndactyly, Short toe, Radial deviation of finger, Hypoplasia ... |
OMIM:154400 |
Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Conductive hearing impairment, Ulnar deviation of finger, Cleft palate, Brachydac... |
ORPHA:921 |
Feingold Syndrome Type 1 |
|
Abnormality of the kidney, Short thumb, Horseshoe kidney, Toe syndactyly, Hydronephrosis, Esophag... |
ORPHA:391641 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Desmoid tumors, Colon cancer |
OMIM:135290 |
Otofaciocervical Syndrome |
|
Down-sloping shoulders, High palate, Conductive hearing impairment, Protruding ear, Abnormal anti... |
ORPHA:2792 |
Baller-Gerold Syndrome |
|
Malabsorption, Cleft palate, Aplasia/Hypoplasia of the patella, Hydronephrosis, Conductive hearin... |
ORPHA:1225 |
Fraser Syndrome 2 |
|
Low-set ears, Anal atresia, Intestinal malrotation, Ambiguous genitalia, Rectal atresia, Underdev... |
OMIM:617666 |
Vacterl/Vater Association |
|
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Occipital encephalocele, C... |
ORPHA:887 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Conductive hearing impairment, Genu varum, Metaphyseal cupping, Metaphyseal widening, Short ribs,... |
OMIM:250420 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Metacarpophalangeal synostosis, Carpal synostosis, Radial head subluxation, Apl... |
OMIM:186400 |
Acheiropody |
|
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... |
OMIM:200500 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad nasal tip, Short metatarsal, Hearing impairment, Epiphyseal stippling, Cone-shaped epiphyse... |
OMIM:101800 |
Smith-Magenis Syndrome |
|
Abnormal renal morphology, Mandibular prognathia, Abnormality of the outer ear, Hearing impairmen... |
OMIM:182290 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short distal phalanx of finger, Short thumb, Hallux varus, Short metatarsal, Short metacarpal, Sh... |
OMIM:112450 |
Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Abnormality of the middle ear ossicles, Mixed hearing impairment,... |
OMIM:609166 |
Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... |
ORPHA:90646 |
Pallister-Hall Syndrome |
|
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Hydroureter, Choanal atresia, Mesoaxial foot... |
OMIM:146510 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... |
ORPHA:424019 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... |
ORPHA:957 |
Schisis Association |
|
Encephalocele, Anal atresia, Spina bifida, Cleft palate, Anencephaly, Omphalocele, Micromelia, Tr... |
ORPHA:63862 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal joint morphology, Camptodactyly of finger, Microtia, third degree, Bifid uvula, Choanal ... |
ORPHA:2753 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Retrognathia, Short fourth metatarsal, Patellar hypoplasia, Anteverted nares, Sen... |
ORPHA:464288 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Cryptorchidism, High palate, Prominent nasal bridge, Camptodac... |
ORPHA:1703 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Limited elb... |
ORPHA:79106 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Hip dislocation, Microtia, third degree, Hypoplasia of the radius, Anotia, Esoph... |
ORPHA:3412 |
Ganglioneuroma |
|
Multiple intestinal neurofibromatosis, Colorectal polyposis, Hamartomatous polyposis, Gastrointes... |
ORPHA:251992 |
Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Abnormality of the fifth metatarsal bone, Latera... |
OMIM:311300 |
Prune Belly Syndrome |
|
Recurrent urinary tract infections, Anal atresia, Cryptorchidism, Decreased testicular size, Cong... |
ORPHA:2970 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Decreased testicular size, Mandibular prognathia, Macrotia, Hypoplasia of the maxilla |
ORPHA:93950 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Genu varum, Metaphyseal cupping, Hypoplastic scapulae, Short palm... |
ORPHA:85166 |
Diamond-Blackfan Anemia 11 |
|
Unilateral radial aplasia, Unilateral renal agenesis, Atresia of the external auditory canal, For... |
OMIM:614900 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, External genital hypoplasia, Polydactyl... |
OMIM:615993 |
Van Maldergem Syndrome 2 |
|
Inguinal hernia, Hearing impairment, Cutaneous finger syndactyly, Wide cranial sutures, Cryptorch... |
OMIM:615546 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hip dysplasia, Hypoplasia of the uterus, Clitoral hypoplasia, Single transverse palmar crease, Cu... |
OMIM:618419 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ambiguous genitalia, Horseshoe kidney, Hearing impairment, Anteverted ears, Cryptorchidism, Micro... |
OMIM:617641 |
Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... |
OMIM:619350 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Vaginal fistula, Horseshoe kidney, Simple ear, Low hanging columella |
OMIM:619318 |
Scimitar Syndrome |
|
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial sept... |
ORPHA:185 |
Oligomeganephronia |
|
Renal tubular atrophy, Proteinuria, Dehydration, Stage 5 chronic kidney disease, Decreased glomer... |
ORPHA:2260 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Median cleft lip and palate, Horseshoe kidney, Bifid nasal tip, Bi... |
ORPHA:2213 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Avascular necrosis of the capital femoral epiphysis, Short metacarpal, Broa... |
OMIM:132400 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antitragus morphology, Conductive hearing impairment, Cryptorchidism, Abnormal antihelix... |
ORPHA:3082 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect |
ORPHA:1937 |
Cornelia De Lange Syndrome 1 |
|
Abnormal renal morphology, Inguinal hernia, Hypoplastic radial head, Proximal placement of thumb,... |
OMIM:122470 |
Chromosome 17Q12 Deletion Syndrome |
|
Protruding ear, Long fingers, Multicystic kidney dysplasia, Aplasia of the uterus, Recurrent urin... |
OMIM:614527 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Tapered phalanx of finger, Rhizo-meso-acromelic limb shortening, Short metacarpal, Single interph... |
OMIM:611717 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Prominent metopic ridge, Short thumb, Penoscrotal transposition, Choanal atresia, Hearing impairm... |
OMIM:619148 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Anal atresia, Cryptorchidism, Inguinal hernia, Hearing impairment, Recurrent otitis media, Microg... |
OMIM:619243 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Low-set ears, Cryptorchidism, Conductive hearing impairment, Polydactyly, Short nose, Hypoplastic... |
OMIM:616910 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Low-set ears, Anteriorly placed anus, Posteriorly rotated ears, Unilateral renal agenesis, Bifid ... |
OMIM:608980 |
Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Ventricular sept... |
OMIM:619702 |
Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Distal symphalangism of hands, Carpal synostosis, Metacarpophala... |
OMIM:185800 |
Cloacal Exstrophy |
|
Hip dislocation, Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Intestinal du... |
ORPHA:93929 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Hypogonadism, Narrow nasal bridge, Renal hypoplasia |
OMIM:618681 |
Branchiogenic Deafness Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Aplasia/Hypoplasia of the inner ea... |
ORPHA:50815 |
Fanconi Anemia, Complementation Group L |
|
Depressed nasal tip, Low-set ears, Esophageal atresia, Aplasia of the uterus, Micropenis, Anal at... |
OMIM:614083 |
Acromesomelic Dysplasia 2A |
|
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... |
OMIM:200700 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... |
ORPHA:457395 |
Vacterl Association With Hydrocephalus |
|
Anal atresia, Radial club hand, Hydrocephalus, Aqueductal stenosis, Stillbirth, Absent thumb, Ren... |
OMIM:276950 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis, Ectopic anus, Sensorineural hearing impairment |
ORPHA:2866 |
Van Maldergem Syndrome 1 |
|
Radial head subluxation, Cutaneous finger syndactyly, Wide cranial sutures, Camptodactyly, Conduc... |
OMIM:601390 |
Sweeney-Cox Syndrome |
|
Broad nasal tip, Prominent metopic ridge, Short distal phalanx of finger, Choanal atresia, Hearin... |
OMIM:617746 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis, Anal atresia, Inguinal hernia, Aganglionic megacolon |
OMIM:235760 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Cryptorchidism, Kinetic tremor, Hearing impairment, Macrotia, Sensorineur... |
OMIM:616817 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Proximal symphalangism, Finger symphalangism, Carpal synostosis, Humeroradial s... |
OMIM:610017 |
Pfeiffer Syndrome Type 2 |
|
Low-set ears, Anal atresia, High palate, Depressed nasal bridge, Hydrocephalus, Hallux varus, Aqu... |
ORPHA:93259 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Narrow greater sciatic notch, Dumbbell-shaped femur, Irregular, rachitic-like metaphyses, Flat ac... |
OMIM:184252 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Broad nasal tip, Hydroureter, Labial hypoplasia, Toe syndactyly, Single transverse palmar crease,... |
OMIM:300707 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Broad nasal tip, Left unicoronal synostosis, Short nose, Aganglionic megacolon, Cle... |
OMIM:614749 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, High palate, Hip dislocation, Ivory epiphyses of the toes, Flattened epiphy... |
OMIM:226980 |
Verheij Syndrome |
|
Broad nasal tip, Retrognathia, Hip dislocation, Vertebral fusion, Renal cyst, Short nose, Optic n... |
OMIM:615583 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Aplasia/Hypoplasia of the fibula, Abnormal thumb morp... |
ORPHA:2639 |
Distal Deletion 10Q |
|
Prominent metopic ridge, Hip dislocation, Hip dysplasia, Protruding ear, Horseshoe kidney, Short ... |
ORPHA:96148 |
Xk Aprosencephaly Syndrome |
|
Anal atresia, Polyhydramnios, Abnormal morphology of the radius, Abnormal external genitalia, Abn... |
ORPHA:3469 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Low-set ears, Cryptorchidism, Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal d... |
ORPHA:85321 |
Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Neonatal... |
OMIM:601186 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Short distal phalanx of finger, Cleft palate, Cupped ear, Overfolded helix, Anal stenosis, Hydron... |
OMIM:614080 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Optic nerve dysplasia, Duplication involving bones of the feet |
OMIM:246000 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of femur morphology, Anal atresia, Abnormal epiphysis morphology, Lower limb undergrowth |
ORPHA:2310 |
Fanconi Anemia, Complementation Group U |
|
Absent radius, Ectopic kidney, Unilateral facial palsy, Aplasia of the 1st metacarpal, Hypoplasia... |
OMIM:617247 |
Radial-Renal Syndrome |
|
External ear malformation, Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb |
OMIM:179280 |
Short-Rib Thoracic Dysplasia 12 |
|
Inguinal hernia, Ambiguous genitalia, Median cleft lip and palate, Short toe, Lobulated tongue, B... |
OMIM:269860 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... |
OMIM:113310 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Ambiguous genitalia, Rhizomelia, Short tibia, Unicoronal synostosis, Cleft palate, Bifid tongue, ... |
OMIM:616300 |
Johanson-Blizzard Syndrome |
|
Hydronephrosis, Anal atresia, Anteriorly placed anus, Edema, Malabsorption, Short nose, Underdeve... |
ORPHA:2315 |
Carpenter Syndrome 1 |
|
Hydroureter, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, T... |
OMIM:201000 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Anal atresia, Prune belly, Hypertrophy of the urinary bladder, Renal dysplasia, Omphalocele, Uret... |
OMIM:601389 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Aplasia/Hypoplasia of metatarsal bones, Genu varum, Metaphyseal widening, Broad femoral metaphyse... |
ORPHA:2502 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibu... |
ORPHA:1836 |
Deafness, Autosomal Dominant 23 |
|
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Low-set ears, Retrognathia, Duodenal atresia, Unilateral renal agenesis, Subm... |
OMIM:619227 |
Seckel Syndrome 7 |
|
Hip dysplasia, Madelung deformity, Short middle phalanx of the 5th finger, Abnormal carpal morpho... |
OMIM:614851 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Small thenar eminence, Conductive hearing impairment, Ectopic kidney, Bifid nose... |
OMIM:239800 |
Fraser Syndrome 1 |
|
Cleft palate, Aplasia/Hypoplasia of the phalanges of the hand, Vaginal atresia, Cupped ear, Cutan... |
OMIM:219000 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Hypogonadism, Renal insufficiency, Unilateral renal agenesis... |
ORPHA:281090 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Low-set ears, Anal atresia, Hydrocephalus, Missing ribs, Syndactyly, Cleft palate... |
OMIM:220210 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx |
OMIM:618724 |
Down Syndrome |
|
Macroglossia, Anal atresia, Conductive hearing impairment, Umbilical hernia, Short nose, Renal hy... |
ORPHA:870 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Avascular ... |
OMIM:611555 |
Hyperparathyroidism, Transient Neonatal |
|
Metaphyseal spurs, Low-set ears, Inguinal hernia, Gastroesophageal reflux, Enlarged kidney, Commu... |
OMIM:618188 |
Phocomelia, Schinzel Type |
|
Protruding ear, Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radiu... |
ORPHA:2879 |
Cat Eye Syndrome |
|
Rectal fistula, Hydronephrosis, Low-set ears, Anal atresia, Intestinal malrotation, Absent radius... |
OMIM:115470 |
Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Metatarsal synostosis, Short metatarsal, Choanal atresia, Br... |
OMIM:107480 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Unilateral renal agenesis, Prune belly, Macrotia |
OMIM:618504 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Congenital hip dislocation, Pyloric stenosis, Atresia of the exter... |
OMIM:133705 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Long nose, Horseshoe kidney, Endometriosis, Unilateral renal ... |
OMIM:613680 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Anal atresia, Cryptorchidism, Inguinal hernia, Hip dysplasia, Abnormality of fibula morphology, A... |
ORPHA:2063 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Craniosynostosis, Limited elbow extension, Low-set ears, Narrow pelvis bone, Overlapping toe, Sho... |
OMIM:616723 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short distal phalanx of finger, Short greater sciatic notch, Absent epiphyses of the phalanges of... |
ORPHA:93314 |
Coach Syndrome 1 |
|
Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Occipital e... |
OMIM:216360 |
3C Syndrome |
|
Inguinal hernia, Cleft palate, Brachydactyly, Hydronephrosis, Hand polydactyly, Hydrocephalus, Sh... |
ORPHA:7 |
Cat-Eye Syndrome (Type I) |
|
Anal atresia, Abnormal heart morphology |
DECIPHER:42 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncompaction, Myofiber... |
OMIM:612158 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Tetraamelia-Multiple Malformations Syndrome |
|
Anal atresia, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia involving the nose, Polyhydramnio... |
ORPHA:3301 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anal atresia, Anteriorly placed anus, Absent radius, Aplasia/Hypoplasia of the thumb, Micrognathi... |
ORPHA:1352 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Hearing impairment, Renal dysplasia, Optic nerve dysplasia, Optic disc colob... |
ORPHA:1475 |
Codas Syndrome |
|
Proximal placement of thumb, Absent epiphyses, Rectovaginal fistula, Short phalanx of finger, Cry... |
OMIM:600373 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... |
OMIM:618719 |
Congenital Heart Defects, Multiple Types, 5 |
|
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... |
OMIM:617912 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Retrognathia, Hip dysplasia, Hydrocephalus, Postaxial polyda... |
OMIM:614576 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Choanal atresia, Optic nerve hypoplasia, Cupped ear, Single transverse palmar cr... |
ORPHA:93932 |
Retinitis Pigmentosa |
|
Conductive hearing impairment, Hypogonadism, Hypoplasia of penis, Anteverted nares, Sensorineural... |
ORPHA:791 |
Distal Duplication 15Q |
|
Anal atresia, Cryptorchidism, High palate, Prominent nasal bridge, Camptodactyly of finger, Ompha... |
ORPHA:1707 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Oligodactyly, Low-set ears, Broad nasal tip, R... |
OMIM:619758 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Esophageal atresia, Anal atresia, Hand polydactyly, Absent radius, Enlarged kidne... |
OMIM:314390 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Hip dislocation, Genu varum, Premature osteoarthritis, Metaphysea... |
ORPHA:93360 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Endocardial fibrosis, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gastroesophageal reflux, Hiatus hernia, Urinary incontinence, Abnormal upper motor neuron morphol... |
OMIM:601162 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Retrognathia, Small thenar eminence, Joint contracture of the 5th finger, Umbili... |
OMIM:618914 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defect, ... |
OMIM:115197 |
Trisomy 8P |
|
Nephrocalcinosis, Bifid uvula, Cleft palate, Single transverse palmar crease, Short 1st metacarpa... |
ORPHA:264450 |
Treacher Collins Syndrome 4 |
|
Choanal stenosis, Conductive hearing impairment, Micrognathia, Cleft palate |
OMIM:618939 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Abnormal hip bone morphology, Atresia of the external auditory can... |
ORPHA:3236 |
Cerebrofacioarticular Syndrome |
|
Bilateral choanal atresia/stenosis, Camptodactyly, Conductive hearing impairment, Anteriorly plac... |
ORPHA:314679 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Low-set ears, Cryptorchidism, Anal atresia, Micropenis, Postaxial foot polydactyly... |
OMIM:264480 |
Multiple Synostoses Syndrome 1 |
|
Stapes ankylosis, Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Progressive... |
OMIM:186500 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Low-set ears, Anal atresia, Renal duplication, Polyhydramnios, Choanal atresia, Cleft palate, Ure... |
OMIM:270420 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Metaphyseal striations, Short femoral neck, Cubitus val... |
OMIM:608154 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Oligodactyly, Anal atresia, Rectal atresia, Hydrocephalus, Ectrodactyly, Oligohydramnios, Hypopla... |
ORPHA:3016 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Ureteral atresia, Unilateral renal agenesis, Short long bone, Talipes equinovar... |
OMIM:618845 |
Fraser Syndrome |
|
Ambiguous genitalia, Urethral atresia, Abnormality of the middle ear, Vaginal atresia, Toe syndac... |
ORPHA:2052 |
Acromicric Dysplasia |
|
Short phalanx of finger, Short metacarpal, Short long bone, Short palm, Fifth metacarpal with uln... |
OMIM:102370 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia invo... |
ORPHA:2098 |
Acrootoocular Syndrome |
|
Grayish enamel, Short toe, Supernumerary tooth, Pseudopapilledema, Palmar hyperkeratosis, Conduct... |
ORPHA:2980 |
Trisomy 12P |
|
Anal atresia, Low-set ears, Abnormal antihelix morphology, Short nose, Cleft palate, Wide nasal b... |
ORPHA:1699 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Horseshoe kidney, Erysipelas, Protein-losing enteropathy, Narrow palate, Rectal prolapse, Cutaneo... |
OMIM:235510 |
Oculoskeletodental Syndrome |
|
Conductive hearing impairment, Nephrocalcinosis, Retrognathia, Enamel hypoplasia, Hearing impairm... |
ORPHA:557003 |
Penile Agenesis |
|
Rectal fistula, Ambiguous genitalia, Hydroureter, Urethral fistula, Unilateral renal hypoplasia, ... |
ORPHA:49 |
Takenouchi-Kosaki Syndrome |
|
Clinodactyly, Hydronephrosis, Low-set ears, Cryptorchidism, Inguinal hernia, Camptodactyly, Proxi... |
OMIM:616737 |
Atrial Septal Defect 2 |
|
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Prune Belly Syndrome |
|
Hydronephrosis, Anal atresia, Cryptorchidism, Congenital hip dislocation, Aplasia of the abdomina... |
OMIM:100100 |
Marden-Walker Syndrome |
|
Low-set ears, Cryptorchidism, High palate, Micropenis, Pyloric stenosis, Inguinal hernia, Camptod... |
OMIM:248700 |
Fryns Syndrome |
|
Short distal phalanx of finger, Cleft palate, Multicystic kidney dysplasia, Hydronephrosis, Low-s... |
ORPHA:2059 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Gastroesophageal reflux, Conductive hearing impairment, Anteverted nares, Choreoathetosis, Dystonia |
OMIM:618497 |
Mucolipidosis Ii Alpha/Beta |
|
Mucopolysacchariduria, Inguinal hernia, Hip dislocation, Hip dysplasia, Enlarged kidney, Flared i... |
OMIM:252500 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Long nose, Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Under... |
OMIM:184460 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Conductive hearing impairment, Vesicoureteral reflux, Duodenal atresia, Microphal... |
OMIM:603467 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Flat acetabular roof, Delayed ossification of carpal bones, Broad t... |
OMIM:609616 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hearing impairment, Epiphyseal stippling, Single transverse palmar crease, Hypoplastic pelvis, Hy... |
OMIM:308050 |
Osteopathia Striata With Cranial Sclerosis |
|
Bifid uvula, Cleft palate, Fibular aplasia, Overfolded helix, Multicystic kidney dysplasia, Anal ... |
OMIM:300373 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Braddock Syndrome |
|
Missing ribs, Posteriorly rotated ears, Unilateral renal agenesis, Micrognathia, Preaxial hand po... |
ORPHA:52047 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Renal Agenesis |
|
Proteinuria, Anal atresia, Renal insufficiency, Unilateral renal agenesis, Absent vas deferens, R... |
ORPHA:411709 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:216694 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Anteri... |
ORPHA:1488 |
Ivic Syndrome |
|
Anal atresia, Short thumb, Synostosis of carpal bones, Hearing impairment, Aplastic clavicle, Rad... |
ORPHA:2307 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Delayed ossification of carpal bones, Brachydactyly |
OMIM:618392 |
Caudal Regression Syndrome |
|
Abnormal iliac wing morphology, Anal atresia, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, A... |
ORPHA:3027 |
Oeis Complex |
|
Duplicated colon, Hydroureter, Labial hypoplasia, 11 pairs of ribs, Pelvic kidney, Rectovaginal f... |
OMIM:258040 |
Fryns Syndrome |
|
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Rocker bottom foot, Cle... |
OMIM:229850 |
Iniencephaly |
|
Encephalocele, Anal atresia, Low-set ears, Spinal dysraphism, Duodenal atresia, Hydrocephalus, Sp... |
ORPHA:63259 |
Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Hydroureter, Micrognathia, ... |
OMIM:616367 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Smith-Lemli-Opitz Syndrome |
|
Hip dislocation, Bifid uvula, Ambiguous genitalia, Proximal placement of thumb, Short thumb, Uret... |
OMIM:270400 |
Distal Duplication 6P |
|
Hydronephrosis, Low-set ears, Abnormal antitragus morphology, Prominent nasal bridge, Aplasia/Hyp... |
ORPHA:1745 |
Aortic Arch Interruption |
|
Left ventricular hypertrophy, Ventricular septal defect, Aortopulmonary window, Abnormal heart mo... |
ORPHA:2299 |
Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Choanal atresia, Cleft palate, Broad thumb, Narrow palate, Simple ear, Single tr... |
OMIM:305450 |
Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Conductive hearing impairment, Bifid nasal tip, Underdeveloped nasal alae, Cleft p... |
ORPHA:398156 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Short distal phalanx of finger, Polydactyly, Cleft palate, Micromeli... |
OMIM:614091 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Short thumb, Joint contracture of the 5th finger, Ulnar deviat... |
OMIM:194350 |
Cenani-Lenz Syndactyly Syndrome |
|
Ectopic kidney, Syndactyly, Enamel hypoplasia, Radioulnar synostosis, Broad hallux, Hypoplasia of... |
OMIM:212780 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Inguinal hernia, Stage 5 c... |
OMIM:614376 |
Ulnar-Mammary Syndrome |
|
Anal atresia, Cryptorchidism, Short distal phalanx of finger, Abnormality of the humerus, Pyloric... |
ORPHA:3138 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Short 1st metacarpal, Conductive hearing impairment, Short thumb, Hors... |
OMIM:609053 |
Developmental And Epileptic Encephalopathy 63 |
|
Bulbous nose, Overlapping toe, Conductive hearing impairment, Cleft palate |
OMIM:617976 |
Zechi-Ceide Syndrome |
|
Low-set ears, Short distal phalanx of finger, Conductive hearing impairment, Abnormal helix morph... |
ORPHA:217017 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Short metatarsal, Capitate-hamate fusion, Short metacarpal, Osteoarthrit... |
OMIM:271650 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Bulbous nose, Anal atresia, Depressed nasal bridge |
OMIM:227260 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Madelung deformity, Limited pronation/supination of forearm, Radial bowing |
DECIPHER:58 |
Heterotaxy, Visceral, 1, X-Linked |
|
Single ventricle, Dextrocardia, Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, ... |
OMIM:306955 |
Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Low-set ears, Abnormal antitragus morphology, Exter... |
ORPHA:2673 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Cryptorchidism, Anal atresia, Intestinal malrot... |
ORPHA:2166 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Abnormal morphology of ulna, Synostosis of carpal bones, Radial head s... |
ORPHA:2634 |
Pontocerebellar Hypoplasia, Type 11 |
|
Anal atresia, Dysphagia, Macrotia, Talipes equinovarus, Bulbous nose |
OMIM:617695 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Low-set ears, Anal atresia, Hip dislocation, Hip dysplasia, Bifid uvula, Postaxia... |
OMIM:300968 |
Kleefstra Syndrome Due To A Point Mutation |
|
Uplifted earlobe, Anal atresia, Abnormality of the kidney, Inguinal hernia, Gastroesophageal refl... |
ORPHA:261652 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad nasal tip, Protruding ear, Chronic oral candidiasis, Optic nerve hypoplasia, Cone-shaped ep... |
ORPHA:221139 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon, Postaxial hand polydactyly, Sensorineural hearing impairment, Foot polydac... |
ORPHA:2155 |
Meier-Gorlin Syndrome 7 |
|
Clubbing, Choanal atresia, Hearing impairment, Cleft palate, Aplasia/Hypoplasia of the patella, P... |
OMIM:617063 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Atresia of the external auditory canal, Short mandibular rami, Cle... |
OMIM:141400 |
Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Anal atresia, Congenital hip disloca... |
OMIM:236700 |
Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Hypoplasia of right ventricle, Double inlet left ventricle, Pulmonic stenosis, A... |
OMIM:212093 |
Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Anal atresia, Cryptorchidism, High palate, Postaxial foot polydactyly, Hydrometro... |
ORPHA:2473 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Long nose, Broad nasal tip, Cryptorchidism, Inguinal hernia, Micropenis, Prominent nasal bridge, ... |
OMIM:616541 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Anal atresia, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Ab... |
ORPHA:2973 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Cryptorchidism, Hypoplasia of penis, Genu valgum, Hypospadias |
ORPHA:1381 |
Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, Broad nasal tip, Cleft palate, Preaxial foot ... |
OMIM:252100 |
Tenosynovial Giant Cell Tumor |
|
Chondrocalcinosis, Abnormality of the auditory canal, Conductive hearing impairment, Joint swelli... |
ORPHA:66627 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Short humerus, Asymmetric radial dysplasia, Abnormal antitragus morphology, Conductive hearing im... |
ORPHA:2878 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Camptodactyly, Perimembranous ventricular septal defect |
OMIM:618804 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Low-set ears, Conductive hearing impairment, Hip dysplasia, Mandibular prognathia, Anteverted nar... |
OMIM:618672 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... |
OMIM:612576 |
Lumbar Syndrome |
|
Anal atresia, Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Spina bifida, M... |
ORPHA:83628 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Prominent metopic ridge, Hip dysplasia, Hydrocephalus, Postaxial polydactyly, Unilateral renal ag... |
OMIM:616362 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Hypoplastic left hea... |
OMIM:604169 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Cone-shaped epiphyses of the phala... |
OMIM:300106 |
Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... |
OMIM:223800 |
Frontometaphyseal Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Bifid uvula, Short metatarsal, Metacarpo... |
ORPHA:1826 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Double inlet left ventricle, Atrial septal defect, Ventricular septal defect, Atrio... |
OMIM:270100 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Abnormal renal collecting system morphology, Prominent metopic ridge, Op... |
ORPHA:468631 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Inguinal hernia, Hearing impairment, Cleft palate, Hydronephrosis, Cryptorchidism, Short nose, Wi... |
OMIM:618454 |
Sirenomelia |
|
Anal atresia, Sirenomelia, Ambiguous genitalia, Spina bifida, Renal hypoplasia/aplasia, Absence o... |
ORPHA:3169 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Enlarged kidney, Cleft palate, Bifid tongue, Co... |
OMIM:613091 |
Townes-Brocks Syndrome 2 |
|
Anal atresia, Vesicoureteral reflux, Bifid uterus, Cupped ear, Spina bifida occulta, Overfolded h... |
OMIM:617466 |
Crouzon Syndrome |
|
Multiple suture craniosynostosis, Conductive hearing impairment, Hydrocephalus, Choanal atresia, ... |
ORPHA:207 |
Fanconi Anemia |
|
Abnormal renal morphology, Aplasia/Hypoplasia of the uvula, Hip dislocation, Hydroureter, Aplasia... |
ORPHA:84 |
Shashi-Pena Syndrome |
|
Low-set ears, Broad nasal tip, Retrognathia, Posteriorly rotated ears, Unilateral renal agenesis,... |
OMIM:617190 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... |
ORPHA:988 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Capitate-hamate fusion, Short m... |
OMIM:614078 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patellar dislocati... |
OMIM:618395 |
Tricuspid Atresia |
|
Hypoplasia of right ventricle, Ventricular septal defect, Atrial septal defect, Patent foramen ov... |
ORPHA:1209 |
Duplication Of Urethra |
|
Unilateral renal hypoplasia, Coronal hypospadias, Uterus didelphys, Recurrent urinary tract infec... |
ORPHA:237 |
Joubert Syndrome 15 |
|
Micropenis, Ambiguous genitalia, Preaxial polydactyly, Nephronophthisis, Exencephaly |
OMIM:614464 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short distal phalanx of finger, Hearing impairment, Cleft palate, Broad thumb, Partial duplicatio... |
OMIM:616331 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal cyst, Polyhydramnios, Renal insufficiency, Hearing impairment, Renal dysplasia, Neonatal de... |
OMIM:614922 |
Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Protruding ear, Toe syndactyly, Camptodactyly of toe, Cryptorchidism, Hy... |
ORPHA:261337 |
Bladder Exstrophy And Epispadias Complex |
|
Inguinal hernia, Anteriorly placed anus, Horseshoe kidney, Epispadias, Hydroureter, Unilateral re... |
OMIM:600057 |
7Q11.23 Microduplication Syndrome |
|
Chronic otitis media, Broad nasal tip, Inguinal hernia, Abnormal columella morphology, Hearing im... |
ORPHA:96121 |
Saethre-Chotzen Syndrome |
|
Hearing impairment, Cleft palate, Broad thumb, Narrow palate, Triphalangeal thumb, Bilateral sing... |
ORPHA:794 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Low-set ears, Inguinal hernia, Vesicoureteral reflux, Short nose, Metopic synosto... |
OMIM:613735 |
14Q22Q23 Microdeletion Syndrome |
|
Cryptorchidism, Optic nerve aplasia, Posteriorly rotated ears, Underdeveloped nasal alae, Atresia... |
ORPHA:264200 |
Coffin-Siris Syndrome 6 |
|
Low-set ears, Broad nasal tip, Conductive hearing impairment, Retrognathia, Gastroesophageal refl... |
OMIM:617808 |
Congenital Myopathy 13 |
|
Low-set ears, Cryptorchidism, Conductive hearing impairment, High palate, Bilateral talipes equin... |
OMIM:255995 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Incomplete partition of the cochlea type II, Bifid uvula, Submucous cleft hard... |
OMIM:617660 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Muscular ventricular septal defect, Atrial septal defect |
OMIM:618354 |
Stromme Syndrome |
|
Hydronephrosis, Low-set ears, Prominent nasal bridge, Duodenal atresia, Hydrocephalus, Preaxial p... |
OMIM:243605 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Synostosis of carpal bo... |
ORPHA:90650 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Anal atresia, Lop ear, Horseshoe kidney, Ectopic kidney, Renal insufficiency, Clitoral hypertroph... |
ORPHA:140952 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Abnormality of the wrist, Atresia of the external auditory canal, Cleft palate, Carpal synostosis... |
ORPHA:2010 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Acrocapitofemoral Dysplasia |
|
Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... |
OMIM:607778 |
Exstrophy-Epispadias Complex |
|
Abnormal joint morphology, Abnormality of the kidney, Renal duplication, Inguinal hernia, Horsesh... |
ORPHA:322 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Choanal atresia, Abnormal metacarpal morphology, In... |
ORPHA:93262 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Anal atresia, Prominent metopic ridge, Short middle phalanx of finger, Wide nasal bridge, Fused c... |
OMIM:309620 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Finger... |
ORPHA:246 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Broad nasal tip, Hydroureter, Broad distal phalanx of the toes, Cryptorchidism, Attached earlobe,... |
OMIM:619194 |
2Q37 Microdeletion Syndrome |
|
Depressed nasal bridge, Conductive hearing impairment, Pyloric stenosis, Umbilical hernia, Underd... |
ORPHA:1001 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Ectopic anus, Cleft palate |
ORPHA:94066 |
Auriculocondylar Syndrome 3 |
|
Retrognathia, Bifid uvula, Glossoptosis, Stenosis of the external auditory canal, Micrognathia, B... |
OMIM:615706 |
Lateral Meningocele Syndrome |
|
Low-set ears, Cryptorchidism, Conductive hearing impairment, High palate, Abnormality of the midd... |
ORPHA:2789 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Clef... |
ORPHA:2237 |
Bartsocas-Papas Syndrome 1 |
|
Oligodactyly, Inguinal hernia, Ambiguous genitalia, Short thumb, Cleft palate, Cupped ear, Bilate... |
OMIM:263650 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Coxa valga, Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Kapur-Toriello Syndrome |
|
Low-set ears, Cryptorchidism, Conductive hearing impairment, Micropenis, Camptodactyly of finger,... |
OMIM:244300 |
Chromosome Xq21 Deletion Syndrome |
|
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... |
OMIM:303110 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Abnormal renal collecting system morphology, Hydroureter, Overfolded helix, Anal stenosis, Propor... |
ORPHA:280633 |
Solitary Rectal Ulcer Syndrome |
|
Stercoral ulcer, Hematochezia, Rectal prolapse, Anal fissure |
ORPHA:209964 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormal rectum morphology |
ORPHA:101009 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Conductive hearing impairment, Prominent nasal bridge,... |
ORPHA:3440 |
12Q14 Microdeletion Syndrome |
|
Prominent nasal bridge, Horseshoe kidney, Ectopic kidney, Wide nose, Tremor, Micrognathia, Intest... |
ORPHA:94063 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a... |
ORPHA:3232 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Thick nasal alae, Flared nostrils, Cleft palate |
OMIM:619504 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Dysphagia, Oligohydramnios, Gonadal dysgenesis, Optic atrophy, Rena... |
ORPHA:135 |
Bardet-Biedl Syndrome 3 |
|
Brachydactyly, External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly |
OMIM:600151 |
Trisomy 18 |
|
Camptodactyly of finger, Abnormal morphology of female internal genitalia, Choanal atresia, Abnor... |
ORPHA:3380 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Short humerus, High palate, Cryptorchidism, Conductive hearing impairment, Hip dislocation, Rhizo... |
OMIM:602471 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormal renal morphology, Broad nasal tip, Short distal phalanx of finger, Anteriorly placed anu... |
OMIM:239300 |
Trichorhinophalangeal Syndrome Type 2 |
|
Recurrent urinary tract infections, Low-set, posteriorly rotated ears, Conductive hearing impairm... |
ORPHA:502 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Broad nasal tip, Inguinal hernia, Hydroureter, Choanal atresia, Cleft palate, Toe syndactyly, Car... |
OMIM:129900 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Pneumonia |
ORPHA:85179 |
Birk-Landau-Perez Syndrome |
|
Dystonia, Tubulointerstitial nephritis, Renal insufficiency, Optic atrophy, Stage 3 chronic kidne... |
OMIM:617595 |
Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Choanal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
Vesicoureteral Reflux 2 |
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Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Craniometaphyseal Dysplasia |
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Abnormal cranial nerve morphology, Conductive hearing impairment, Abnormal metaphysis morphology,... |
ORPHA:1522 |
Ramon Syndrome |
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Conductive hearing impairment, Narrow palate, Delayed eruption of teeth, Sensorineural hearing im... |
ORPHA:3019 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Phaver Syndrome |
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Low-set ears, Camptodactyly of finger, Conductive hearing impairment, Ulnar deviation of finger, ... |
ORPHA:2876 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Low-set ears, High palate, Anal atresia, Hip dysplasia, Hydrocephalus, Umbilical hernia, Posterio... |
OMIM:612582 |
Chromosome 8Q22.1 Duplication Syndrome |
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Hallux valgus, Short thumb, Short metatarsal, Short metacarpal, Broad metacarpals, Genu recurvatu... |
OMIM:151200 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... |
OMIM:184253 |
Radial Aplasia, X-Linked |
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Anal atresia, Absent radius, Penile hypospadias, Hydrocephalus |
OMIM:312190 |
Opitz Gbbb Syndrome |
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Low-set ears, Cryptorchidism, Anal atresia, Micropenis, Rectourethral fistula, High palate, Ingui... |
OMIM:300000 |
Apert Syndrome |
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Bifid uvula, Choanal atresia, Cleft palate, Micromelia, Toe syndactyly, Narrow palate, Broad thum... |
ORPHA:87 |
Leopard Syndrome 1 |
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Low-set ears, Cryptorchidism, Hypoplasia of the ovary, Micropenis, Protruding ear, Missing ribs, ... |
OMIM:151100 |
Cardiospondylocarpofacial Syndrome |
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Conductive hearing impairment, Synostosis of carpal bones, High, narrow palate, Short palm, Failu... |
ORPHA:3238 |
Acrocallosal Syndrome |
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Inguinal hernia, Bifid uvula, Hearing impairment, Cleft palate, Toe syndactyly, Preaxial foot pol... |
OMIM:200990 |
Atresia Of External Auditory Canal And Conductive Deafness |
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Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal, Conductive hearing ... |
OMIM:108760 |
Feingold Syndrome 2 |
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Intestinal atresia, Ventricular septal defect |
OMIM:614326 |
Thakker-Donnai Syndrome |
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Cervical C2/C3 vertebral fusion, Hydronephrosis, Anal atresia, Communicating hydrocephalus, Poste... |
ORPHA:1780 |
Peutz-Jeghers Syndrome |
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Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Esophageal neoplasm, Gastroint... |
ORPHA:2869 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Short tibia, Cleft palate, Absent nasal bridge, Uterus didelphys, Micropenis, Esophageal divertic... |
OMIM:617925 |
Microcephaly 20, Primary, Autosomal Recessive |
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Ureteral agenesis, Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia, Bilateral r... |
OMIM:617914 |
Postaxial Acrofacial Dysostosis |
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Midgut malrotation, Low-set ears, Abnormality of the kidney, Conductive hearing impairment, Micro... |
OMIM:263750 |
Tetraamelia Syndrome 1 |
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Low-set ears, Anal atresia, Hypoplastic pelvis, Hydrocephalus, Hypoplasia of the fallopian tube, ... |
OMIM:273395 |
Congenital Disorder Of Glycosylation, Type Iig |
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Rhizomelia, Cleft palate, Single transverse palmar crease, Hydronephrosis, Camptodactyly, Cryptor... |
OMIM:611209 |
Opitz Gbbb Syndrome |
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Inguinal hernia, Prominent metopic ridge, Ankyloglossia, Hearing impairment, Cleft palate, Hydron... |
ORPHA:2745 |
Pallister-Hall Syndrome |
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Oligodactyly, Inguinal hernia, Hip dislocation, Bifid uvula, Ambiguous genitalia, Mesoaxial polyd... |
ORPHA:672 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
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Chronic otitis media, Atresia of the external auditory canal, Conductive hearing impairment, Clin... |
OMIM:221320 |
Mesomelic Dysplasia, Kantaputra Type |
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Carpal synostosis, Tarsal synostosis, Radial bowing |
OMIM:156232 |
Desbuquois Dysplasia 1 |
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Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... |
OMIM:251450 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
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Low-set, posteriorly rotated ears, Short distal phalanx of finger, Camptodactyly of finger, Finge... |
ORPHA:2994 |
Congenital Tufting Enteropathy |
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Anal atresia, Dehydration, Malabsorption, Steatorrhea, Villous atrophy, Choanal atresia, Arthriti... |
ORPHA:92050 |
Renal And Mullerian Duct Hypoplasia |
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Horseshoe kidney, Short nose, Micrognathia, Anteriorly displaced urethral meatus, Hydrocele testi... |
OMIM:266810 |
Johnson Neuroectodermal Syndrome |
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Hand polydactyly, Conductive hearing impairment, Protruding ear, Hypogonadism, Choanal atresia, A... |
ORPHA:2316 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Conductive hearing impairment, Abnormal pinna morphology, Fused cervical vertebrae, Cleft palate,... |
OMIM:214300 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
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Ventricular septal defect |
OMIM:209770 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Anal atresia, Broad nasal tip, Delayed ossification of carpal bones, Coxa valga, Dislocated radia... |
OMIM:617425 |
Orofaciodigital Syndrome Vi |
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Broad nasal tip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibular aplasia, Preaxi... |
OMIM:277170 |
Larsen-Like Syndrome |
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Low-set ears, Conductive hearing impairment, Radial deviation of the 4th finger, Joint dislocatio... |
OMIM:608545 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Camptodactyly, Retrognathia, Prominent nasal bridge, Micrognathia, Rocker bottom foot, Aminoacidu... |
OMIM:604273 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Protruding ear, Polydactyly, Acromesomelia, Toe syndactyly, Pelvic kidney, Hydronephrosis, Crypto... |
ORPHA:464306 |
Lacrimoauriculodentodigital Syndrome |
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Bifid uvula, Short thumb, Keratoconjunctivitis sicca, Choanal atresia, Toe syndactyly, Cupped ear... |
ORPHA:2363 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Inguinal hernia, Cleft palate, Long fingers, Overlapping toe, Short nose, Wide nasal bridge, Hype... |
OMIM:213980 |
Cdags Syndrome |
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Anal atresia, Coronal craniosynostosis, Rectourethral fistula, Short ribs, Short clavicles, Cleft... |
OMIM:603116 |
Congenital Tracheomalacia |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... |
ORPHA:95430 |
Acro-Renal-Ocular Syndrome |
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Short thumb, Horseshoe kidney, Toe syndactyly, Short hallux, Preaxial hand polydactyly, Triphalan... |
ORPHA:959 |
Ventricular Septal Defect 2 |
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Perimembranous ventricular septal defect |
OMIM:614431 |
Oculopharyngodistal Myopathy 3 |
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Tremor, Conductive hearing impairment, Sensorineural hearing impairment, Dysphagia |
OMIM:619473 |
Lateral Meningocele Syndrome |
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Low-set ears, Cryptorchidism, Conductive hearing impairment, High palate, Abnormality of the midd... |
OMIM:130720 |
Cleft Velum |
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Aspiration pneumonia, Conductive hearing impairment, Recurrent otitis media, Velopharyngeal insuf... |
ORPHA:99772 |
Acrocardiofacial Syndrome |
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Split foot, Low-set ears, Cryptorchidism, Anal atresia, Camptodactyly of finger, Hallux valgus, F... |
ORPHA:2008 |
Radiation Proctitis |
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Rectal fistula, Hematochezia, Intestinal obstruction, Rectal abscess, Abnormal gastrointestinal v... |
ORPHA:70475 |
Focal Facial Dermal Dysplasia Type Iii |
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Anal atresia, Abnormal sacroiliac joint morphology, Wide nasal bridge, Depressed nasal ridge, Abn... |
ORPHA:1807 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
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Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
Ophthalmomandibulomelic Dysplasia |
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Elbow dislocation, Camptodactyly of finger, Synostosis of carpal bones, Radioulnar synostosis, Ra... |
ORPHA:2741 |
Kniest Dysplasia |
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Inguinal hernia, Conductive hearing impairment, Hip dislocation, Dumbbell-shaped femur, Genu varu... |
OMIM:156550 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly |
OMIM:601438 |
Left Ventricular Noncompaction 8 |
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Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Congenital Myopathy 17 |
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Clinodactyly, Hydronephrosis, Low-set ears, High palate, Overlapping toe, Polyhydramnios, Uretero... |
OMIM:618975 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... |
OMIM:613092 |
Ehlers-Danlos Syndrome, Classic-Like |
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Joint subluxation, Hiatus hernia, Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral re... |
OMIM:606408 |
Orofaciodigital Syndrome Type 6 |
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Broad nasal tip, Mesoaxial polydactyly, Cleft palate, Bilateral cryptorchidism, Lobulated tongue,... |