Liebenberg Syndrome |
|
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... |
OMIM:186550 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ... |
OMIM:606835 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Sensorineural hearing impairment, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis, Hearing impairment |
OMIM:235740 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia, Hearing impairment |
OMIM:301800 |
Pseudoachondroplasia |
|
Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Increased laxity of ankles... |
ORPHA:750 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Choanal atresia, Unilateral renal agenesis, Micrognathia,... |
OMIM:608572 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, Renal cyst, Choanal stenosis, Multinucleated neuron, Clinodactyl... |
OMIM:236500 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Cleft palate, Hypoplasia... |
OMIM:601076 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Bilateral single transverse palmar crease... |
ORPHA:1580 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Depressed nasal bridge, Unilateral renal agenesis, Chronic kidney d... |
OMIM:617661 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow pal... |
OMIM:617926 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi... |
ORPHA:1112 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... |
OMIM:617974 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... |
ORPHA:1307 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Renal hypoplasia/aplasia, Crypt... |
ORPHA:2863 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Congenital hip dislocation, High palate, Vesicoureteral reflux, Conductive hearin... |
OMIM:113650 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, ... |
ORPHA:85284 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Hydronephrosis, Anal at... |
ORPHA:195 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna... |
ORPHA:171839 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Depressed nasal bridge, Polyhydra... |
ORPHA:2256 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Abnormal cranial nerve morphology, Abnormal... |
ORPHA:2345 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, External genital hypoplas... |
OMIM:615996 |
Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Meier-Gorlin Syndrome 8 |
|
Micrognathia, Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-... |
OMIM:617564 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Overhanging nasal tip, Posteriorly rotated ears, Overlapping toe, Unila... |
OMIM:618494 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Depressed nasal bridge, Unilateral renal agenesis, ... |
OMIM:618142 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... |
ORPHA:1275 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Pseudoachondroplasia |
|
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... |
OMIM:177170 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic... |
ORPHA:2549 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge,... |
OMIM:616854 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Renal hypopl... |
OMIM:246560 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia, Cleft palate, ... |
OMIM:244200 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis, Anal atresia, Oligohydramnios |
OMIM:274265 |
Renal, Genital, And Middle Ear Anomalies |
|
Renal hypoplasia/aplasia, Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossi... |
OMIM:267400 |
Emanuel Syndrome |
|
Congenital hip dislocation, Micrognathia, High palate, Micropenis, Cryptorchidism, Renal hypoplas... |
OMIM:609029 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Mi... |
ORPHA:245 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Overfolded hel... |
ORPHA:79113 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... |
OMIM:276820 |
Winchester Syndrome |
|
Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Anteverted nares, Microgna... |
OMIM:154230 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb... |
OMIM:216100 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Bor Syndrome |
|
Ureteropelvic junction obstruction, Branchial cyst, Renal insufficiency, Multicystic kidney dyspl... |
ORPHA:107 |
Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormality of the malleus, Triphalangeal thumb, Conductive hearing impairment, Adv... |
ORPHA:949 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Overlapping toe, Anteverted nares, Postaxial polydactyly, Micrognathia, ... |
OMIM:613792 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Sensorineural hea... |
OMIM:118100 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi... |
OMIM:613390 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, High palate, Vesicoureteral reflux, Finger syndactyly, Broad hallux phalanx,... |
ORPHA:93260 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
15Q24 Microdeletion Syndrome |
|
Brachydactyly, Hypospadias, Depressed nasal bridge, Proximal placement of thumb, Prominent nasal ... |
ORPHA:94065 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Conductive hearing impairment, Stenosis... |
ORPHA:1513 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Carious teeth, Bilateral cleft lip and palate, Conductive hearing impairment, ... |
ORPHA:1997 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Posteriorly rotated ears, Single transverse palmar crease, Unilateral renal agenes... |
OMIM:619951 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Unilateral renal agenesis, Broad nasal tip, Precocious puberty... |
ORPHA:3306 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... |
OMIM:620294 |
Hadziselimovic Syndrome |
|
Posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Renal hypoplasia, High palate... |
OMIM:612946 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Short foot, Microtia, High palate, Cl... |
OMIM:248910 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t... |
ORPHA:52429 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Holzgreve Syndrome |
|
Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate |
OMIM:236110 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Micrognathia, Broad nasal tip, Cryptorchidism, Hydrocephalus, High pal... |
OMIM:609757 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... |
OMIM:615779 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Septo-optic dysplasia, A... |
ORPHA:59315 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian... |
ORPHA:95699 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Fe... |
OMIM:274000 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Meckel Syndrome 12 |
|
Anteverted nares, Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Antecu... |
OMIM:616258 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Renal hypoplasia/aplasia, Micrognathia, Missing ribs, Hydro... |
ORPHA:1834 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand polydactyly, Hypoplas... |
OMIM:136760 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Renpenning Syndrome |
|
Mandibular prognathia, Hypospadias, Prominent nose, Abnormal thumb morphology, High, narrow palat... |
ORPHA:3242 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Trisomy 1Q |
|
Small scrotum, Polyhydramnios, Hydrops fetalis, Microretrognathia, Multicystic kidney dysplasia, ... |
ORPHA:261344 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Short toe, D... |
ORPHA:79106 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
Emanuel Syndrome |
|
Congenital hip dislocation, Micrognathia, High palate, Micropenis, Bifid uvula, Cryptorchidism, R... |
ORPHA:96170 |
Otofaciocervical Syndrome |
|
Scapular winging, Anteverted nares, Down-sloping shoulders, Depressed nasal bridge, Renal hypopla... |
ORPHA:2792 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... |
ORPHA:1225 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... |
ORPHA:90646 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Sensorineural hearing impairment, Short toe, Cr... |
ORPHA:921 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Underdeveloped nasal alae, Cleft palate, Hydranencephaly, Short distal... |
OMIM:601355 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Dela... |
OMIM:132400 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect |
OMIM:620062 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Polyhydramnios, Ectopic kidney, Abno... |
ORPHA:887 |
Fraser Syndrome 2 |
|
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... |
OMIM:617666 |
Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the ... |
ORPHA:391641 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... |
OMIM:101800 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Micropenis... |
OMIM:146510 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Schisis Association |
|
Omphalocele, Encephalocele, Renal agenesis, Micromelia, Spina bifida, Anencephaly, Tracheoesophag... |
ORPHA:63862 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... |
OMIM:614900 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Decreased testicular size, Anal atresia |
ORPHA:93950 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Inguinal hernia, Micrognathia, Precocious puberty, Cryptorchidism, Recurrent otitis media, Anal a... |
OMIM:619243 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Ant... |
ORPHA:1703 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphragm morphology, Paten... |
ORPHA:185 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Simple ear, Horseshoe kidney, Vaginal fistula, Anal atresia, Low hanging columella |
OMIM:619318 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Eczema, Cryptorchidism, Sensorineural hearing impairme... |
ORPHA:464288 |
Van Maldergem Syndrome 2 |
|
Bifid scrotum, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly place... |
OMIM:615546 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Single transverse palmar crease, Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Go... |
OMIM:618419 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ectopic kidney, Anteverted ears, Vesicoureteral reflux, Thickened helices, Micropenis, Anteverted... |
OMIM:617641 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Abnormality of the ear, Depress... |
ORPHA:2753 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Abnorm... |
ORPHA:2260 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Thenar muscle atrophy, Bifid nasal tip, Horseshoe kidney, Microtia, Atresia of the external audit... |
ORPHA:2213 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Renal hypoplasia/aplasia... |
ORPHA:1590 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav... |
ORPHA:2538 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Anteverted nares, Single interphalangeal crease of fifth finger, Depressed nasa... |
OMIM:611717 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Single transverse palmar crease, Micrognathia, Anteriorly placed anus, High palate... |
OMIM:619148 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Narrow nasal br... |
ORPHA:3082 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Micrognathia, Aqueductal stenosis, Anotia, Abnormal fallopian tube morphology, Ab... |
ORPHA:3412 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long to... |
OMIM:614527 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Posteriorly rotated ears, Unilateral renal agenesis, Precocious puberty, Bulbous ... |
OMIM:608980 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Ectopic kidney, Abnormal tibia morphology, Abnormality of the clitoris, Uret... |
ORPHA:93929 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Lessel-Kubisch Syndrome |
|
Narrow nasal bridge, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Sensorineural hearing impairment, Ectopic anus, Craniosynostosis |
ORPHA:2866 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Func... |
ORPHA:96148 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Abnormality of the ear, Coxa vara, Flat... |
ORPHA:457395 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneo... |
OMIM:601390 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh... |
OMIM:614851 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Broad hallux, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortenin... |
OMIM:614749 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Single transverse palmar crease, 3-5 toe syndactyly, Clinodactyly of the 5th finger, Vesicoureter... |
OMIM:300707 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Esophag... |
OMIM:614083 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Depressed nasal bridge, Cryptorchidism, Polydactyly, Low-set ears, Conductive hearin... |
OMIM:616910 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Depressed nasal bridge, Irregular, rachitic-like metaphyses, Hypoplasia of the o... |
OMIM:184252 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Micrognathia, Proximal placement of ... |
OMIM:122470 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Renal agenesis, Anteverted nares, Optic nerve hypoplasia, Broad... |
OMIM:615583 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Renal insufficiency, Shortening of all middle phalanges of the fingers, Ivo... |
OMIM:226980 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93259 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Optic nerve dysplasia, Anal atresia |
OMIM:246000 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormal epiphysis morphology, Anal atresia, Abnormal femur morphology, Lower limb undergrowth |
ORPHA:2310 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Stillbirth,... |
OMIM:276950 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Abnormal external genitalia, Polyhydramnios, Abnormal nostril ... |
ORPHA:3469 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Down-sloping shoulders, Micrognathia, Cryptorchidism, Sensorineural hearing impai... |
OMIM:616817 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Polyhydramnios, Bilateral cryptorchidism, High palate, 2-5 toe sy... |
OMIM:617746 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... |
OMIM:617247 |
Birk-Aharoni Syndrome |
|
Muscular ventricular septal defect |
OMIM:620071 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Absent thumb, External ear malformation, Absent radius, Ectopic kidney |
OMIM:179280 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Ure... |
OMIM:601389 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,... |
OMIM:616300 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Micrognathia, Cryptorchidism, Sensorineu... |
ORPHA:85321 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... |
OMIM:201000 |
Down Syndrome |
|
Brachydactyly, Sandal gap, Aganglionic megacolon, Depressed nasal bridge, Renal hypoplasia/aplasi... |
ORPHA:870 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Edema, Malabsorption, Underdeveloped... |
ORPHA:2315 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Vesicoureteral reflux |
OMIM:605192 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Short palm, Neona... |
OMIM:269860 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Polyhydramnios, Micrognathia, Tremor, Choreoathetosis, Large fleshy ears, H... |
OMIM:614080 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, Ectopic kidney, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Small thenar emi... |
OMIM:239800 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, Beta 2-microg... |
OMIM:611555 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hy... |
ORPHA:2879 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Esophageal atresia, Submuc... |
OMIM:619227 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Depressed nasal bridge, Micrognathia, Missing ribs, Hydrocephalus, Cleft... |
OMIM:220210 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Endometriosis, Micrognathia, Unilateral renal agenesis, Long ... |
OMIM:613680 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Depressed nasal bridge, Craniosynosto... |
OMIM:616723 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Posteriorly rotated ears, Micrognathia, Cryptorchidism,... |
ORPHA:2063 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Abnormal metatarsal morphology, Flat capital femoral epiphysis, Hip subluxa... |
ORPHA:93360 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Optic disc pallor, Anteverted nares, Unilateral renal age... |
OMIM:216360 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Cryptorchidism, Macrotia, Micropenis, Prune belly |
OMIM:618504 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Pyloric stenosis... |
OMIM:133705 |
Acromicric Dysplasia |
|
Short metacarpal, Short foot, Cone-shaped epiphysis, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... |
OMIM:608154 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Abno... |
ORPHA:281090 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Micrognathia, Absent radius, Rectal fistul... |
OMIM:115470 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Glue ear, Absence of renal corticomedullary differentiation, Broad nasal tip, Bifid nasal tip, Re... |
OMIM:619758 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
3C Syndrome |
|
Hypoplasia of penis, Micrognathia, High, narrow palate, Finger syndactyly, Hypospadias, Depressed... |
ORPHA:7 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Renal hypoplasia, 2... |
OMIM:618914 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Polyh... |
ORPHA:3301 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, 2... |
OMIM:107480 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Crypt... |
ORPHA:1707 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Choanal stenosis, Cleft palate, Micrognathia |
OMIM:618939 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... |
ORPHA:3236 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Conductive hearing impai... |
OMIM:600373 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Hypospadias, Micrognathia, Lymphedema, Hypoplasia of the maxilla, Bila... |
ORPHA:314679 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Unilateral renal agenesis, Hydrocephalus, Esophageal varix, Optic atrophy,... |
OMIM:614576 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Wide cranial sutures, Short femur, Inguinal hernia, Metaphyseal spur... |
OMIM:618188 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Abnormal antihelix morphology, Large hands, Abnorm... |
ORPHA:1699 |
Cat-Eye Syndrome (Type I) |
|
Anal atresia, Micrognathia |
DECIPHER:42 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... |
ORPHA:2980 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Cleft ala nasi, Urethral atresia, High palate, Conductive hea... |
ORPHA:2052 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a... |
OMIM:618845 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Polyhydramnios, Absent radius, Esophageal atresia, Hy... |
OMIM:314390 |
Trisomy 8P |
|
Short fourth metatarsal, Single transverse palmar crease, Fetal pyelectasis, Nephrocalcinosis, Cl... |
ORPHA:264450 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Wide nasa... |
ORPHA:791 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... |
OMIM:271650 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Polyhydramnios, Choanal atresia, Optic disc colobom... |
OMIM:270420 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Encephalocele, Renal agenesis, Posteriorly rotated ears, Cryptorch... |
OMIM:264480 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Fg Syndrome Type 1 |
|
Single transverse palmar crease, Micrognathia, Prominent nose, High palate, Finger syndactyly, Hy... |
ORPHA:93932 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Sensorineural hearing impairment, Enamel hypoplasi... |
ORPHA:557003 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Proximal place... |
OMIM:616737 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Cryptorchidism, Xerostomia, Aplasia of the abdominal wal... |
OMIM:100100 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:1488 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Braddock Syndrome |
|
Posteriorly rotated ears, Unilateral renal agenesis, Micrognathia, Missing ribs, Preaxial hand po... |
ORPHA:52047 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Mucolipidosis Ii Alpha/Beta |
|
Micrognathia, Metaphyseal widening, Anteverted nares, Depressed nasal bridge, Hypoplasia of the o... |
OMIM:252500 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... |
ORPHA:411709 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Resting tremor, Urinary incontinence, Hiatus hernia, Urinary urgency, Abnormal pelvic girdle bone... |
OMIM:601162 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus,... |
OMIM:616367 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Iniencephaly |
|
Omphalocele, Encephalocele, Rhizomelia, Renal agenesis, Rocker bottom foot, Polyhydramnios, Spina... |
ORPHA:63259 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Bifid nasal tip, Cleft palate,... |
ORPHA:398156 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Polyhydramnios, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2... |
OMIM:603467 |
Distal Duplication 6P |
|
Prominent nasal bridge, Micrognathia, Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnor... |
ORPHA:1745 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Micrognathia, Ectopic kidney, H... |
OMIM:212780 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Bulbous nose, Depressed nasal bridge, Anal atresia |
OMIM:227260 |
Oeis Complex |
|
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambi... |
OMIM:258040 |
Fryns Syndrome |
|
Polyhydramnios, Micrognathia, High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux,... |
ORPHA:2059 |
Heterotaxy, Visceral, 1, X-Linked |
|
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... |
OMIM:306955 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Micrognathia, Osteopathia striata, High palate, Clinodactyly of the 5th finger, C... |
OMIM:300373 |
Developmental And Epileptic Encephalopathy 63 |
|
Conductive hearing impairment, Bulbous nose, Overlapping toe, Cleft palate |
OMIM:617976 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyseal wide... |
OMIM:614376 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Hydrops fetalis, Renal cyst, High palate, Syndactyly, Hypospadias, Renal hypoplasia, ... |
OMIM:614091 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Abnormal renal morphology, Hypoplasia of the r... |
OMIM:609053 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Cutaneous finger... |
OMIM:235510 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovag... |
ORPHA:3016 |
Marden-Walker Syndrome |
|
Inguinal hernia, Hypospadias, Arachnodactyly, Anteverted nares, Micrognathia, High, narrow palate... |
OMIM:248700 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala... |
ORPHA:2741 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Sandal gap, Short metatarsal, Abnormal earlobe morphology, Clef... |
ORPHA:217017 |
Opitz-Kaveggia Syndrome |
|
Single transverse palmar crease, Micrognathia, Prominent nose, Anteriorly placed anus, Prominent ... |
OMIM:305450 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... |
ORPHA:3138 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Posteriorly rotated ears, Depressed nasal bridge, Postaxial polydactyly, Tapered... |
OMIM:300968 |
Penile Agenesis |
|
Cloacal abnormality, Fetal pyelectasis, Bilateral renal hypoplasia, Anorectal anomaly, Absent pen... |
ORPHA:49 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Cutaneous finger syndactyly, Choanal stenosis, C... |
OMIM:219000 |
Isolated Atp Synthase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, 3-Methylglutaconic aciduria, H... |
ORPHA:254913 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Pontocerebellar Hypoplasia, Type 11 |
|
Bulbous nose, Macrotia, Talipes equinovarus, Anal atresia |
OMIM:617695 |
Hemifacial Microsomia With Radial Defects |
|
Cleft palate, Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive h... |
OMIM:141400 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon, Renal agenesis, Sensorineural hearing impairment, Postaxial hand polydacty... |
ORPHA:2155 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu... |
OMIM:617063 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... |
OMIM:270400 |
Cardiac Valvular Dysplasia 1 |
|
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos... |
OMIM:212093 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Hypoplasia of penis, Encephalocele, Hypospadias, ... |
ORPHA:2166 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Edema, Aganglion... |
OMIM:236700 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... |
ORPHA:2673 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormality of the wrist,... |
ORPHA:2878 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... |
ORPHA:2973 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Anal atresia |
ORPHA:1381 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp... |
ORPHA:83628 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly |
OMIM:618804 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Tapered finger, Sensorineural hearing impairment, Small ... |
OMIM:618672 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Cr... |
OMIM:616541 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb... |
OMIM:229850 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the kidney, Uplifted earlobe, Tapered finger, Precoc... |
ORPHA:261652 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Conductive hearing impairment, Anteverted nares, Dystonia |
OMIM:618497 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom... |
ORPHA:3169 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Abnormality of the tympanic membrane, Abnormality of the auditory canal,... |
ORPHA:66627 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
Dihydropyrimidinase Deficiency |
|
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Anteverted nares, Postaxial polydactyly, Unilateral renal ... |
OMIM:616362 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Townes-Brocks Syndrome 2 |
|
Crossed fused renal ectopia, Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistul... |
OMIM:617466 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Protruding ear, Recurrent aspiration pneumonia, Intention tremor, Psoriasiform dermatitis, Anteve... |
ORPHA:221139 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Clinodactyly... |
OMIM:618454 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
Shashi-Pena Syndrome |
|
Short metacarpal, Posteriorly rotated ears, Unilateral renal agenesis, Broad nasal tip, Cupped ea... |
OMIM:617190 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partia... |
OMIM:270100 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Renal agenesis, Clitoral hypertrophy, Ectopic kidney, Bulbou... |
ORPHA:140952 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... |
OMIM:618395 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Mixed hearing impairment, Intestinal malrotation, Unilateral renal age... |
OMIM:620305 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly, Nephronophthisis, Ambiguous genitalia, Micropenis |
OMIM:614464 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Sensorineural hearing impairment, Submucous cleft hard palate, Renal hypop... |
OMIM:617660 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Bladder Exstrophy And Epispadias Complex |
|
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly... |
OMIM:600057 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Knee flexion contracture, Microphallus, Pelvic kidney, Low-set, posteriorl... |
ORPHA:468631 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal th... |
ORPHA:84 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Cone-shaped e... |
OMIM:184260 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Narrow palate, Multiple... |
ORPHA:207 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin... |
OMIM:309620 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Anteverted nares, Renal hypoplasia, Low-set ears, Metopic synostosis, Vesicouret... |
OMIM:613735 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Conductive hearing impairment, Micropenis, Anteverted nares, Cleft soft palate, Dep... |
OMIM:616331 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the ankl... |
ORPHA:2010 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... |
OMIM:614922 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broad nasal tip, H... |
OMIM:617808 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin... |
ORPHA:794 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Brachydactyly,... |
ORPHA:1001 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Bilateral singl... |
ORPHA:264200 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, M... |
ORPHA:3027 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Septate... |
ORPHA:2237 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cutaneous syndactyly, Neural tube defect, Clinodactyly, Anal atresia |
OMIM:119580 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic il... |
OMIM:263650 |
Bardet-Biedl Syndrome 3 |
|
External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal optic disc morphology, High palate, Chron... |
ORPHA:96121 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Camptoda... |
ORPHA:261337 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Wormian bones, Posteriorly rotated ears, Inguinal hernia, Abnormality of... |
ORPHA:2789 |
Chopra-Amiel-Gordon Syndrome |
|
Cleft palate, Thick nasal alae, Flared nostrils, Unilateral renal agenesis |
OMIM:619504 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Abnormal metacarpal mor... |
ORPHA:93262 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Knee flexion contracture, Prominent crus of helix, Cryptorchidism, Wide nasal b... |
OMIM:619194 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... |
OMIM:129900 |
Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Pneumonia |
ORPHA:85179 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Choreoathet... |
OMIM:617595 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Optic nerve hypopl... |
OMIM:243605 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Posteriorly rotated ears, Rocker bottom foot, Depressed nasal bridge, Sensorineural he... |
OMIM:612582 |
Phaver Syndrome |
|
Broad hallux phalanx, Posteriorly rotated ears, Pterygium, Camptodactyly of finger, Depressed nas... |
ORPHA:2876 |
Craniometaphyseal Dysplasia |
|
Depressed nasal bridge, Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Conduc... |
ORPHA:1522 |
Trisomy 18 |
|
Pointed helix, Holoprosencephaly, Bilateral single transverse palmar creases, Low-set, posteriorl... |
ORPHA:3380 |
Trichorhinophalangeal Syndrome Type 2 |
|
Low-set, posteriorly rotated ears, Joint dislocation, Recurrent urinary tract infections, Brachyd... |
ORPHA:502 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Intestinal malrotation, Short thumb, Cr... |
OMIM:244300 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, N... |
ORPHA:3019 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Tremor, Ectopic kidney, ... |
ORPHA:94063 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro... |
ORPHA:2633 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Short palm, Conductive hearing impairment, Failure of eruption of permanent ... |
ORPHA:3238 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... |
ORPHA:989 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Posteriorly rotated ears, Hypospadias, Unilateral renal ... |
OMIM:151100 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Absent nasal bridge, Neonatal d... |
OMIM:617925 |
Acrocallosal Syndrome |
|
Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Micr... |
OMIM:200990 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Clinodactyly of the 5th finger, Atresia of t... |
OMIM:221320 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... |
OMIM:602471 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... |
ORPHA:87 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda... |
ORPHA:2994 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tremor, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, Prominent superior cr... |
ORPHA:280633 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Conductive hearing impa... |
OMIM:611209 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
Cach Syndrome |
|
Optic atrophy, Renal hypoplasia, Gonadal dysgenesis, Optic neuritis, Pancreatitis, Oligohydramnios |
ORPHA:135 |
Waardenburg Syndrome |
|
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Prominent nasal b... |
ORPHA:3440 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Cleft palate, Fused cervical vertebr... |
OMIM:214300 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:213980 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... |
OMIM:615222 |
Larsen-Like Syndrome |
|
Joint dislocation, Dental malocclusion, Cleft palate, Recurrent otitis media, Radial deviation of... |
OMIM:608545 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Hypoplasia of the fallopian tube, Choanal atresia, Micrognathia, Absent external ... |
OMIM:273395 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C... |
ORPHA:2316 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Single transverse palmar cre... |
OMIM:617425 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Focal Facial Dermal Dysplasia Type Iii |
|
Abnormality of the upper urinary tract, Abnormal sacroiliac joint morphology, Depressed nasal rid... |
ORPHA:1807 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... |
OMIM:215045 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Prominent nasal bridge, Micrognathia, Lacticaciduria, Renal hypoplasia, Amino... |
OMIM:604273 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Posteriorly rotated ears, Aganglionic megacolon, Tapered finger, Broad nas... |
OMIM:239300 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... |
OMIM:266810 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing impairment, Vertebral fusion, Hypo... |
ORPHA:959 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Bulbous nose, Tracheoeso... |
ORPHA:1780 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, Large carpal bones, Finger clinodactyly, Radioulnar sy... |
ORPHA:99330 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Jejunal atresia |
ORPHA:391646 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Choanal ... |
ORPHA:92050 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Choana... |
OMIM:263750 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Finger syndactyly, Hypoplasia of penis, Hallux valgus, Hypospadias, Toe syndac... |
ORPHA:2008 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Vesicoureteral reflux, Recurrent aspiration pneumonia, ... |
ORPHA:2745 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Depressed nasal ridge, Holoprosencephaly, Micropenis, Bifid uvula,... |
ORPHA:672 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, E... |
ORPHA:2869 |
Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Enlarged joints, Rhizomelia, Depressed nasal bridge, Dumbbell-s... |
OMIM:156550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Overlapping toe, Polyhydramnios, Tapered finger, Clinodactyly, Dental malo... |
OMIM:618975 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Hamart... |
OMIM:277170 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Hearing impairment, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplas... |
ORPHA:2578 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Limb hy... |
OMIM:620070 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Wormian bones, Posteriorly rotated ears, Inguinal hernia, A... |
OMIM:130720 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Osteolysis involving tarsal bones, M... |
OMIM:166300 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Renal cyst, Protruding ear, Clinodactyly of the 5th finger, Micropenis, Pelvic kidney, Hypospadia... |
ORPHA:464306 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Micrognathia, Abnormal optic disc morphology, Short palm, Clinodactyly of ... |
ORPHA:508498 |
Cdags Syndrome |
|
Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Sensorineural hearing impairment, ... |
OMIM:603116 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Vesicoureteral reflux, Conductive hearing impairment, Abnormal salivary... |
ORPHA:2363 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly o... |
OMIM:181270 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Posteriorly rotated ears, Hypospadias, Partial ab... |
ORPHA:96176 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Prominent fingertip pads, Cholesteatoma |
OMIM:614113 |
Bnar Syndrome |
|
Anal stenosis, Abnormal fifth toe morphology, Renal agenesis, Anteriorly placed anus, Bifid nose |
ORPHA:217266 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Depressed nasal bridge, Abnormal pinna morphology, Anteverted nares, Postaxial hand polydactyly, ... |
ORPHA:75389 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Posteriorly rotated ears, Sandal gap, Anteverted nares, Short toe, Anterior ope... |
OMIM:617877 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment, Hydroxyprolinuria, Bowing of the long bones |
OMIM:174810 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Joint s... |
OMIM:606408 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... |
ORPHA:319675 |
Opitz Gbbb Syndrome |
|
Inguinal hernia, Abnormal nasopharynx morphology, Posteriorly rotated ears, Hypospadias, Antevert... |
OMIM:300000 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Orofaciodigital Syndrome Type 6 |
|
Micrognathia, Tremor, Bilateral cryptorchidism, Preaxial polydactyly, Finger clinodactyly, Lobula... |
ORPHA:2754 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Acne, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of t... |
OMIM:158330 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Small scrotum, Polyhydramnios, Micrognathia, Hypoplastic ischia, Prom... |
OMIM:606170 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Delayed eruption... |
ORPHA:819 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia,... |
OMIM:308700 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu... |
OMIM:120330 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... |
ORPHA:857 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Hip dislocation, Protruding ear, Talipes equinovarus, Low-set ears, Wo... |
OMIM:616603 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft palate, Neonata... |
OMIM:615524 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Omphalocele, Ventral shortening of foreskin, Cryptorchidism, Esophageal atresia, C... |
ORPHA:95706 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Steel Syndrome |
|
Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte... |
OMIM:615155 |
Meckel Syndrome 14 |
|
Single ventricle |
OMIM:619879 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet... |
ORPHA:37553 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... |
ORPHA:99772 |
Isolated Cleft Lip |
|
Polyhydramnios, Velopharyngeal insufficiency, Abnormal Eustachian tube morphology, Talipes equino... |
ORPHA:199302 |
Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Low-set ears,... |
OMIM:202650 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,... |
ORPHA:2470 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Micrognathia, Anorectal anomaly, Abnormality of the uterus, Vesicoureteral reflux... |
ORPHA:567 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Cupped ear, Unilateral renal hypoplasia, Large earlobe, Vesicoureteral re... |
OMIM:619955 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Flexion contracture of finger, Hypospadias, Prominent nasal bridge, Unilateral... |
ORPHA:464311 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:619473 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Elevated urinary norepinephrine level, Tremor, Paroxysmal vertigo, Elevated u... |
ORPHA:94080 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Unilateral cryptorchidism, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory... |
OMIM:300946 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia, High palate, M... |
OMIM:308750 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... |
OMIM:601356 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Micrognathia, Ambiguous genitalia, female, ... |
OMIM:249000 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... |
ORPHA:973 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Malabsorption, Iridocyclitis, ... |
OMIM:240300 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Radio-Tartaglia Syndrome |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Tr... |
OMIM:619312 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing... |
OMIM:616726 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostos... |
ORPHA:254346 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Keratitis, Hypoplasia of the maxilla, Hydroceph... |
OMIM:123500 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the wrist, Abnormality of the ... |
ORPHA:2496 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly |
OMIM:615665 |
Diphallia |
|
Bifid scrotum, Ureteral duplication, Epispadias, Ectopic scrotum, Duplicated colon, Bladder exstr... |
ORPHA:227 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Micrognathia, Optic atrophy, Prominent fingertip pads, Retrognathia, A... |
ORPHA:480898 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Tremor, Choanal stenosis, Con... |
OMIM:601808 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ... |
OMIM:617914 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,... |
OMIM:147920 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Bifid scrotum, Hypospadias, P... |
ORPHA:2211 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal dysplasia, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Glenoid... |
ORPHA:239 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Optic atrophy, Dystonia, Prominent fingertip pads, Retrognathia, Anal atresia |
OMIM:616875 |
Dilated Cardiomyopathy With Ataxia |
|
Diaphragmatic eventration, Muscular ventricular septal defect, Dilated cardiomyopathy, Generalize... |
ORPHA:66634 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora... |
OMIM:249700 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Single transverse palmar... |
ORPHA:2332 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete... |
ORPHA:2911 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Eczema, Abnormal dental enamel m... |
ORPHA:85199 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Cryptorchidism, Metopic synostosis, Dystonia, Neonatal death, Hearing ... |
OMIM:620024 |
Larsen Syndrome |
|
Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Abnormal e... |
ORPHA:503 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd... |
OMIM:610536 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Cond... |
ORPHA:2710 |
Cleft Palate, Deafness, And Oligodontia |
|
Sandal gap, Cleft soft palate, Short hallux, No permanent dentition, Bilateral conductive hearing... |
OMIM:216300 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Hypospadias, Overlapping toe, Unilateral rena... |
ORPHA:487796 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Anteverted nares, Depressed nasa... |
OMIM:215150 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Unilater... |
ORPHA:1064 |
Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Renal hypoplasia, Abnormal radial ray morphology, Duodena... |
OMIM:617784 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Juberg-Hayward Syndrome |
|
Wide nose, Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger mo... |
ORPHA:2319 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Pelvic kidney, Anal atresia |
OMIM:617244 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Vesicoureteral reflux, Megadu... |
OMIM:611376 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, Large iliac wing... |
ORPHA:2780 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Cryptorchidism, Sensorin... |
ORPHA:1131 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Wrist swelling, Slender long bone, Metacarpal osteolysis, Abnormal epiph... |
ORPHA:2774 |
Rhyns Syndrome |
|
Renal insufficiency, Radial bowing, Sensorineural hearing impairment, Chronic kidney disease, Sho... |
OMIM:602152 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Iliac crest serration, Widened gr... |
OMIM:250220 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Acalvaria |
|
Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Hypoplasia of the maxilla, 2-3 toe syndactyly, Cleft palate, Wide nasal bridge, Palm... |
OMIM:106260 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... |
ORPHA:3265 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Single transverse palmar crease, Ovotestis, Hydrocephalus, Cle... |
OMIM:309801 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl... |
OMIM:181450 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Premature thelarche, Protruding ear, Micropenis, Hypospadias, Cleft soft palate, Tapered finger, ... |
ORPHA:268261 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cr... |
OMIM:601499 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... |
ORPHA:2990 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Anteverted nares, Small hand, Wide nasal ... |
OMIM:619980 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hea... |
ORPHA:261197 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Prominent fingertip pads, Depressed nasal bridge, Single transverse palmar crease, Supernumerary ... |
OMIM:617412 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... |
OMIM:600002 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Hypospadias, Sandal gap, Intestinal malrotation, Long nose, Cryptorchidism, Cario... |
OMIM:617602 |
Ulbright-Hodes Syndrome |
|
Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte... |
ORPHA:3404 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, External genital hypoplasia, Hand ... |
OMIM:214800 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi... |
ORPHA:90324 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, ... |
OMIM:136140 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... |
OMIM:135100 |
Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, High palate, Otitis media, Conductive hearing impairm... |
OMIM:117550 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Polyhydramnios, Clitoral hypoplasia, Clinodactyly... |
ORPHA:709 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Depressed nasal ridge, Limb undergrowth, Conductive hearing impairme... |
ORPHA:1861 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Mixed hearing impairment, Abnormal nasopharynx morp... |
OMIM:218400 |
Currarino Syndrome |
|
Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Anal stenosis, Uri... |
OMIM:176450 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Short nose, Anal at... |
ORPHA:884 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal... |
ORPHA:1297 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Neop... |
ORPHA:157794 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Broad hallux, Anteverted nares, Postaxial polydactyly, ... |
ORPHA:457284 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Sandal gap, Anal stenosis, Choanal atresia, Microg... |
OMIM:251260 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis,... |
ORPHA:3109 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Fanconi Anemia, Complementation Group D1 |
|
Short thumb, Anal atresia |
OMIM:605724 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meni... |
ORPHA:1393 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Otofaciocervical Syndrome 1 |
|
Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Hypoplasia of the cochlea, Cu... |
OMIM:166780 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Renal duplication, Choanal atresia, Ectopic kidney, Micrognathia, Cleft... |
OMIM:613309 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... |
OMIM:269250 |
Trisomy 20P |
|
Micrognathia, Protruding ear, Low-set, posteriorly rotated ears, Finger syndactyly, Hypospadias, ... |
ORPHA:261318 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Single transverse palmar crea... |
OMIM:615777 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Hypospadias, Phimosis, Micrognathia, Bulbous nose, Cupped ear, Low hanging... |
OMIM:309500 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... |
OMIM:607095 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Wide nose, Depressed nasal bridge, Bulbous nose, Flared metaphysis, Advanced ossification of carp... |
OMIM:610442 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, High palate, C... |
OMIM:135900 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow mo... |
OMIM:261540 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, P... |
OMIM:192350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Single transverse palmar crease, Renal hypoplasia, High palate, Oligohydramnios |
OMIM:619053 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Depressed nasal bridge, Micrognathia, Prominent crus of helix, Bilateral renal ... |
OMIM:619695 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Cryptorchidism, Meningoencephaloce... |
OMIM:236670 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cys... |
ORPHA:97362 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Ventricular septa... |
OMIM:243150 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... |
OMIM:620099 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Short palm, Depressed... |
ORPHA:93271 |
Degcags Syndrome |
|
Polyhydramnios, Micrognathia, Prominent nose, Bilateral renal hypoplasia, High palate, Syndactyly... |
OMIM:619488 |
Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Sensorineura... |
OMIM:108300 |
Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Wide nasal ridge, Cryptorchidism, Anteriorly placed anus, Large hands, Cam... |
OMIM:618786 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, High palate, Cleft palate |
OMIM:615731 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Coxa valga, Advanced ossification of carpal bones, Flattened epiphysis, Genu val... |
OMIM:618363 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Camptodactyly of finger, Hypoplasia of the maxi... |
ORPHA:391474 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital femoral epiphysis, Thenar... |
OMIM:612350 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Micrognathia, Hydrops fetalis, Knee flexion contracture, High palate, Intercrural pterygium, Cond... |
OMIM:265000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney disease, Thickened ... |
OMIM:146255 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia |
ORPHA:63260 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Choanal stenosis, Neonatal death, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydr... |
OMIM:308205 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Conductive hearing impairment, Dis... |
OMIM:102500 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing of the legs, Depres... |
OMIM:100800 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Polyhydramnios, Renal cyst, Narrow greater sciatic notch, Short palm, Post... |
OMIM:312870 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... |
OMIM:617802 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... |
OMIM:610205 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilatera... |
ORPHA:508488 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:782 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss... |
OMIM:210710 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Posteriorly rotated ears, Sandal gap, Anteverted nares, Depressed nasal bridge... |
OMIM:616835 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Small scrotum, Posteriorly rotated ears, Arachnodacty... |
ORPHA:2215 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Anteverted nares, Sensorineura... |
OMIM:220500 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Protruding ear, Finger clinodactyly, High p... |
ORPHA:2751 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Bicornuate uterus, Talipes equinovarus, Low-set ears, Vagi... |
OMIM:191830 |
Kinsship Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Coxa valga, Bulbous nose, L... |
OMIM:619297 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Depressed ... |
OMIM:114290 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... |
ORPHA:424016 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect, Intrinsic hand muscle atrophy |
OMIM:618569 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Otitis media, Aspiration pneumonia, Thickened helices, Conductive hearing impairment... |
ORPHA:581 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Rhinitis, Conductive hearing impairment, Chronic sinusitis, Chronic otitis media |
OMIM:618063 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Adva... |
OMIM:224400 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Intestinal malrotation, Hydrocephalus, Clubbing, Bronchiectasis, Nasal congestio... |
ORPHA:244 |
Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... |
ORPHA:2437 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly ... |
OMIM:117650 |
Oculodentodigital Dysplasia |
|
Uveitis, High palate, Joint contracture of the 5th finger, Conductive hearing impairment, Antever... |
OMIM:164200 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment, Abnormal pelvic girdle bone morphology, Mandibular pain, Thickened... |
OMIM:607634 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Hennekam Syndrome |
|
Ectopic kidney, Lymphedema, Hydrops fetalis, Conductive hearing impairment, Finger syndactyly, De... |
ORPHA:2136 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... |
OMIM:612290 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Absent external genitalia, Uret... |
OMIM:271520 |
Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Hypoplasia of the ma... |
ORPHA:96129 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the... |
OMIM:602588 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Aplasia of the epiglotti... |
OMIM:615948 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Cond... |
OMIM:182212 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Unilateral renal agenesis, Cleft palate, Methylmalonic aciduria, Stomatitis, Glossitis |
ORPHA:79284 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short ... |
OMIM:272460 |
Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Short middle phalanx of the 5... |
OMIM:190685 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Ambiguous genitalia, Tapered f... |
OMIM:617159 |
Kabuki Syndrome |
|
Hypoplasia of penis, Protruding ear, High palate, Conductive hearing impairment, Hypospadias, Pre... |
ORPHA:2322 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Short metatarsal, Finger clinodactyly, High palate, Conductive hearin... |
OMIM:617137 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protru... |
ORPHA:2462 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Zttk Syndrome |
|
Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Craniosynostosis, Hypoplasia of the ... |
OMIM:617140 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Mixed hearing impairment, Facial palsy, Metaphyseal widening, Flared metap... |
OMIM:123000 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... |
OMIM:259600 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypospadias, Absent tragu... |
OMIM:603457 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Posteriorly rotated ears, Urinary incontinence, Sandal gap, Prominent nasal bridge, Small hand, S... |
OMIM:618885 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseu... |
ORPHA:2044 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
3Mc Syndrome 1 |
|
Omphalocele, Single interphalangeal crease of fifth finger, Diastasis recti, Abnormality of the a... |
OMIM:257920 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Wide nose, Nonimmune hydrops fetal... |
OMIM:617667 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Delayed closure of the anterior fontanelle, Micrognathia, Postaxial polydac... |
OMIM:618460 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Tremor, Paroxysmal vertig... |
ORPHA:276621 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Flared metaphysis, Hypoplastic pubic bone, Short long bone, Small epiphyses, Delayed ossification... |
ORPHA:93346 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Postaxial polydactyl... |
OMIM:605627 |
Schizophrenia 1 |
|
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Protruding ear, Short pr... |
OMIM:181510 |
Cockayne Syndrome |
|
Urinary incontinence, Intention tremor, Cryptorchidism, Renal hypoplasia, Nephrotic syndrome, Hig... |
ORPHA:191 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Glossoptosis, Ventricular septal defect, Cleft palate |
ORPHA:1388 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Axial Spondylometaphyseal Dysplasia |
|
Iliac crest serration, Hypoplastic iliac wing, Proximal femoral metaphyseal irregularity, Upper l... |
ORPHA:168549 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:210122 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Hypoplas... |
ORPHA:1507 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... |
OMIM:608257 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Depressed nasal bridge, Polyhyd... |
OMIM:300990 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High p... |
ORPHA:861 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79094 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Scapular winging, Down-sloping shoulders, Tapered fi... |
OMIM:615560 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Duplicated collecting system, Microretrognathia, Hip contracture, Brachydactyly, Bilateral single... |
ORPHA:488642 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux |
OMIM:619793 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... |
OMIM:604292 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, An... |
OMIM:613717 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Hearing abnormalit... |
ORPHA:647 |
Caudal Duplication |
|
Myelomeningocele, Intestinal duplication, Spina bifida |
ORPHA:1756 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Recurrent urinary tract infections, Brachydactyly, Eczema, Polyhydramnios, Ante... |
OMIM:617157 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Abnormal pinna morphology, Rocker bottom foot, Depressed nasal bridge, Choanal at... |
OMIM:207410 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor... |
ORPHA:314585 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Micrognathia, High palate, Vesicoureteral reflux, Micropenis, Hypospadias, Antever... |
OMIM:309580 |
Larsen Syndrome |
|
Vertebral fusion, Short metacarpal, Depressed nasal bridge, Spatulate thumbs, Elbow dislocation, ... |
OMIM:150250 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia, Palmo... |
ORPHA:1555 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, H... |
OMIM:607932 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Hennekam-Beemer Syndrome |
|
Wide nose, Camptodactyly of finger, Pneumonia, Micrognathia, Long nose, Optic atrophy, Wide nasal... |
ORPHA:2135 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Micrognathia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Esophageal ... |
OMIM:265380 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
Alg12-Cdg |
|
Muscular ventricular septal defect, Patent ductus arteriosus, Biventricular hypertrophy, Camptoda... |
ORPHA:79324 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Prominent nose, High palate, Low-set, posteriorly rotated ears, Depre... |
ORPHA:480880 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate |
OMIM:603194 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi... |
ORPHA:1427 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Abnormal metacarpal morphology, ... |
ORPHA:2095 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Broad nasal tip, Sensorineural heari... |
OMIM:620155 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone |
OMIM:606943 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glos... |
OMIM:602535 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Microcephaly-Cardiomyopathy Syndrome |
|
High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent frontal sinuses, Anosmia, Bronchi... |
OMIM:244400 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, High palate, Bifid uvula, Acne, Femoral hernia, Ovarian cyst, ... |
OMIM:188400 |
Okamoto Syndrome |
|
Urinary incontinence, Exaggerated median tongue furrow, Prominent metopic ridge, Anteverted nares... |
ORPHA:2729 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... |
ORPHA:3121 |
Beta-Ureidopropionase Deficiency |
|
Bifid scrotum, Bladder exstrophy, Anal atresia, Dystonia |
OMIM:613161 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Microphthalmia, Syndromic 1 |
|
Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, High palate, Prominent fin... |
OMIM:309800 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Williams Syndrome |
|
Hypoplasia of penis, Micrognathia, Tremor, Periorbital edema, Rectal prolapse, Abnormal tubuloint... |
ORPHA:904 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Megarectum |
OMIM:301056 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment, Abnormality of dental color |
ORPHA:1006 |
Pgm3-Cdg |
|
Lactose intolerance, Mild neurosensory hearing impairment, Membranoproliferative glomerulonephrit... |
ORPHA:443811 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Abnormalit... |
ORPHA:141127 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Polyhydramnios, Proximal placement of thumb, Atopic dermatitis, Anteriorly plac... |
OMIM:618624 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Angulated humerus, Bowing of the long bones, Wormian bones, Rhizomelia, Short ... |
OMIM:616229 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, ... |
ORPHA:2874 |
Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Anteriorly placed anus, High palate, Choanal stenosis, Bifid uvula, Hypospadias, A... |
OMIM:123790 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, Micrognathia, High, narrow palate, Aplasia/Hypop... |
ORPHA:96149 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, High palate, Synostosis of... |
ORPHA:221120 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Monosomy 18Q |
|
Mandibular prognathia, Arachnodactyly, Abnormal palmar dermatoglyphics, Depressed nasal bridge, T... |
ORPHA:1600 |
Recombinant 8 Syndrome |
|
Small scrotum, Bilateral single transverse palmar creases, Abnormality of the kidney, Camptodacty... |
ORPHA:96167 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia |
ORPHA:3405 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas... |
OMIM:614207 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Prominent fingertip pads, Thickened h... |
OMIM:619950 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Acne, Cleft palate, Protruding ear, Hypoplasia of the uterus, Cubitus valgus, Abn... |
ORPHA:247768 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Single transverse palmar crease, Polyhydramnios, Micrognathia, Choanal stenosis, ... |
OMIM:620186 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ... |
OMIM:105650 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Wide nasal bridge, Cleft palate, Ectopic anus, High... |
ORPHA:251038 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteri... |
OMIM:211380 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Choanal stenosis, N... |
OMIM:259775 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Recurrent urinary tract infections, Overlapping toe, Palpebral edema, Seve... |
ORPHA:99843 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Depressed nasal bridge, Craniosynostosis, Tapered finger, Micrognathia, Cryptor... |
OMIM:620005 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Micrognathia, Prominent nose, Abnormal finger morphology, High palate, Ves... |
DECIPHER:81 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, High palate, Abnormal... |
ORPHA:199 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Multiple... |
OMIM:118450 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pulsatile tinnitus, Proteinuria, Elevated urinary norepinephrine level, Tremor, Paroxysmal vertig... |
ORPHA:29072 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Choanal atresia, Prominent nasal bridge, Bilateral cryptorchidism, Sens... |
OMIM:300472 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Recurrent pharyngitis, Vertigo, Optic atrophy, Hema... |
ORPHA:397 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Polyhyd... |
OMIM:601803 |
Holoprosencephaly 1 |
|
Single ventricle |
OMIM:236100 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Sensorineural hearing impair... |
OMIM:615816 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Anteriorly placed anus, Choanal... |
OMIM:201750 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615297 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Anteriorly placed anus, Clitoral hypoplasia, Vesicoureteral reflux, Micropenis, Sho... |
OMIM:616894 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta... |
OMIM:305600 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Bronchiectasis, Pye... |
ORPHA:90348 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... |
OMIM:606164 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Hypoplasia of the maxilla, Clinodactyly, High palate, Conductive hearing i... |
OMIM:614188 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Convex nasal ridge, Optic nerve hypoplasia, Hydrocepha... |
OMIM:619321 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Qazi-Markouizos Syndrome |
|
Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Single transverse palmar cr... |
OMIM:114300 |
Common Variable Immunodeficiency |
|
Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Otitis media, Chronic otitis media, Ana... |
ORPHA:1572 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Optic atrophy, Renal hypoplasia, ... |
OMIM:617913 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Hypospadias, Single transverse palmar crease, Abnormality of... |
ORPHA:1708 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Postaxial hand polydactyly, Myelomeningocele, Wid... |
OMIM:607330 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Clitoral hypoplasia, Webbed penis, Micr... |
ORPHA:97360 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormal external genitalia, Micrognathia, Abnormality of the urethr... |
ORPHA:2842 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Abnormal pinna morphology, Hypospadias, Proximal placement of thumb, Micrognathia, An... |
OMIM:217980 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ... |
ORPHA:896 |
Jacobsen Syndrome |
|
Long hallux, Broad columella, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad h... |
ORPHA:2308 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Aganglionic megacolon, Prominent nasal bridge, Micrognathia, Bulbous nose,... |
ORPHA:247262 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Micromelia, Renal hypoplasi... |
ORPHA:3015 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Muenke Syndrome |
|
Tarsal synostosis, Short foot, Cone-shaped epiphysis, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Nephroblastoma |
OMIM:612918 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Conductive hearing impairment, Sensorineural hearing impairment, Lobar ho... |
OMIM:618500 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Hypospadias, Metatarsus adductus, Sensorineural hearing im... |
OMIM:611962 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Advanced oss... |
OMIM:615349 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Depressed nasal bridge, Broad nasal ti... |
ORPHA:466943 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Split foot... |
OMIM:200980 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Choanal stenosis, M... |
ORPHA:798 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of the 5th finger, Micrope... |
OMIM:194050 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Glossoptosis, High palate, Aspiration pneumonia, Vesicoureteral reflux, Conductive ... |
ORPHA:444077 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vesicoureteral reflux, Conduc... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vesicoureteral reflux, Conduc... |
ORPHA:352665 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Depressed nasal bridge, Unilateral renal agenesis, Bilateral renal dysplasia, Abs... |
ORPHA:500150 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Dysphagia |
OMIM:616276 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Vesicoureteral reflux, Conductive hearing impairment, Anteverted nares, Wide nas... |
OMIM:157800 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Multiple gastric polyps, Hamartomatous polyposis, Intestinal bleeding, Gastroint... |
OMIM:175200 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia |
OMIM:207950 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Ankle flexion contracture, Narrow nose, Underdeveloped nasal alae, Elbo... |
OMIM:618175 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:126320 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, External genital hypoplasia, Unilateral renal agenesis, Probos... |
ORPHA:141099 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Cryptorchidism, Elbow flexion contracture, Hypercalciuria, Wide nasal bridge, Mac... |
OMIM:618440 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone-shaped ... |
ORPHA:439822 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, High palate |
ORPHA:261120 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:610338 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Aganglionic megacolon, Pr... |
ORPHA:261222 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Abnormal fallopian tube morphology, Polyhydramnios, Micrognathia, Broad nasal ti... |
ORPHA:1655 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Micrognathi... |
ORPHA:536545 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, S... |
ORPHA:77258 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abno... |
ORPHA:1848 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Anterio... |
ORPHA:1299 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Renal cyst, Clinodact... |
OMIM:113620 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Esophageal atresia, Hydrocephalus, ... |
OMIM:300514 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, 2-3 toe cutaneous sy... |
OMIM:620029 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Multiple joint dislocation, High palate, Renal neoplasm, Arac... |
ORPHA:536467 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chondromatosis of radius, Short p... |
ORPHA:99646 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Conductive hearing... |
OMIM:280000 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Abnormal heart morphology, Atrial septal defec... |
ORPHA:401935 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Single transverse palmar crease, Long nose, High palate... |
OMIM:619522 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
OMIM:616898 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal ridge, Renal cyst, Clinodactyly of the 5th finger, Conductiv... |
ORPHA:1606 |
Johanson-Blizzard Syndrome |
|
Single transverse palmar crease, Anteriorly placed anus, Clinodactyly of the 5th finger, Hypoplas... |
OMIM:243800 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Bilateral con... |
OMIM:602080 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries, Cl... |
OMIM:231060 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Micropenis, Hypospadias, Anteverted nares, Depress... |
OMIM:301040 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac wing, Disloca... |
OMIM:271640 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
White-Kernohan Syndrome |
|
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Retrognathia, H... |
OMIM:619426 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... |
ORPHA:1319 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplic... |
OMIM:601707 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd... |
ORPHA:3411 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Mixed hearing impairment, Palmoplantar keratoderma, ... |
ORPHA:2698 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Prominent nose, Sensorineural hearing impairment |
OMIM:604804 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Micrognathia, Vesicoureteral reflux, Upper limb undergrowth, Wide nasal bridge, Mic... |
ORPHA:529962 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Enterocolitis |
OMIM:142623 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Sandal gap, Anteverted nares, High, narrow palate, Hydrocephalus, Cupped ear, Small hand, Submuco... |
OMIM:612863 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Renal agenesis, Intestinal malrotation, Micromelia, Renal hypo... |
ORPHA:35107 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Otitis media, Vesicoureteral reflux, Conductive hearing impairment, Hypospadias, Broad hallux, Cr... |
ORPHA:353281 |
Holoprosencephaly 2 |
|
Single ventricle |
OMIM:157170 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Hypoplasia of the abdomi... |
OMIM:612289 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Inguinal hernia, Redun... |
OMIM:614557 |
Bladder Exstrophy |
|
Umbilical hernia, Intestinal malrotation, Abnormality of the anus |
ORPHA:93930 |
Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Septate vagina, Short toe, Hand polydactyly, Congenital finger ... |
OMIM:114150 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Depressed nasal ridge, High palate, Thickened helices, Clinodactyly of the 5th fi... |
OMIM:607872 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Cleft palate, Hip dysplasia, Abn... |
ORPHA:90354 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplastic cervical vertebra... |
ORPHA:79345 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect |
OMIM:619717 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Inguinal hernia, Depressed nasal bridge, Diastasis rect... |
ORPHA:576 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Conductive hearing impairment, Vertebral fusion, H... |
OMIM:194190 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polyhydramnios, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Conductive hearin... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polyhydramnios, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Conductive hearin... |
ORPHA:353277 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Ventricular septal defect, Holoprosencephaly, Anterior encephalocele |
OMIM:601357 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Hypoplastic left heart, Apical muscular ventricular septal defect, Congenital diaph... |
OMIM:301022 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal duplication, Shor... |
OMIM:227646 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Oligohydram... |
OMIM:618653 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Lo... |
OMIM:608624 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... |
OMIM:268400 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Anal stenosis, Block vertebrae, Missing ribs, Myelomeningoc... |
OMIM:613686 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Joubert Syndrome 18 |
|
Lobulated tongue, Occipital encephalocele, Ventricular septal defect, Cleft palate |
OMIM:614815 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Gastrointestinal dysmotility, Patent foramen ovale |
OMIM:619189 |
Syndromic Diarrhea |
|
Villous atrophy, Inguinal hernia, Gastritis, Renal hypoplasia, Wide nasal bridge, Colitis, Polycy... |
ORPHA:84064 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Brachydactyly, Aganglionic megacolon, Abnormality of the k... |
OMIM:209900 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... |
OMIM:615989 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero... |
OMIM:134780 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Persistence of primary teeth, Cranial nerve compression, Optic atrophy, Proximal re... |
ORPHA:2785 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Aganglionic megacolon |
OMIM:613870 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Metatarsus adductus, Osteopathia striata,... |
ORPHA:513456 |
Kallmann Syndrome |
|
Hypoplasia of penis, Renal agenesis, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Senso... |
ORPHA:478 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect |
ORPHA:228399 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H... |
ORPHA:2461 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Tibial bowing, Femoral bowing, Knee flexion con... |
OMIM:601559 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Precocious puberty, Ethmoidal encephalocele |
ORPHA:280195 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ... |
OMIM:605231 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Low-set ears, Absent thumb |
OMIM:615272 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Perimembrano... |
OMIM:612474 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Inguinal hernia, Wide nose, Papilledema, Camptodactyly of finger, Heparan sulfate e... |
ORPHA:217085 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... |
OMIM:602200 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Torticollis, Overlapping toe, Polyhydramnios, Tapered... |
OMIM:618371 |
Pancreatic insufficiency, combined exocrine |
|
Anasarca, Anal atresia |
OMIM:260450 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Microtia, third degree, Toe syndactyly, Ambiguous ... |
OMIM:200110 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis |
ORPHA:90038 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Hallux valgus, Inguinal hernia, Genu recurvatum, Sandal gap, Recurrent shoulde... |
ORPHA:230851 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... |
OMIM:227650 |
Native American Myopathy |
|
Submucous cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, High palate, Talipes equ... |
ORPHA:168572 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Inguinal hernia, Wide nose, Papilledema, Camptodactyly of finger, Heparan sulfate e... |
ORPHA:217093 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones |
ORPHA:1323 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology,... |
ORPHA:2556 |
Toriello-Carey Syndrome |
|
Brachydactyly, Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Cryptorchidism, Cl... |
ORPHA:3338 |
Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Hypoplasia of the odo... |
OMIM:250250 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... |
OMIM:600901 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... |
ORPHA:371428 |
Martsolf Syndrome 1 |
|
Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger... |
OMIM:212720 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Mixed hearing impairment, Pneumonia, Oligosacchariduria, Macroglossia |
ORPHA:309288 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, No permanent dentition, Pedal edema, Vesicoureteral reflux, Conduct... |
ORPHA:821 |
Faundes-Banka Syndrome |
|
Fetal ascites, Micrognathia, Premature thelarche, Cryptorchidism, Bulbous nose, Cupped ear, Under... |
OMIM:619376 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Umbilical hernia, Patent foramen oval... |
OMIM:613177 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... |
ORPHA:1005 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, Polyhydramnios, High palate, Clinodactyly of the 5th... |
ORPHA:1308 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Aganglionic megacolon, Malabsorption |
ORPHA:452 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Neopl... |
ORPHA:144 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation |
ORPHA:2143 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Conductive hearing impairment, Pulsatile tinnitus |
OMIM:168000 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis |
OMIM:612591 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Abnorm... |
ORPHA:284169 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Optic atrophy, Wide nasal brid... |
OMIM:201180 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Spina bifida, Bilateral cleft lip and palate |
ORPHA:1104 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Supern... |
OMIM:617088 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of... |
ORPHA:139466 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, High palate |
OMIM:314320 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metacarpal, Toe syndactyly, Scapular winging, Short metatarsal, Small hand, Small finger, S... |
OMIM:170390 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... |
OMIM:178110 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth, Mixed hearing impairment, Femoral bowing |
OMIM:126550 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft palate, Mitral valve prolapse, Atrial s... |
OMIM:612561 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Hydrocephalus, Ventricular septal defect |
OMIM:218350 |
Osteoglophonic Dysplasia |
|
Pseudoarthrosis, Short metacarpal, Bowing of the long bones, Rhizomelia, Camptodactyly of finger,... |
OMIM:166250 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Polyhydramnios, Calcaneovalgus deformity, Depressed nasal ridge, Neonat... |
OMIM:256520 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Malabsorption, Hepatocellular carcinoma, Neop... |
ORPHA:440437 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect, High palate |
ORPHA:3369 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect... |
ORPHA:1913 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Triploidy |
|
Intestinal malrotation, Hydrocephalus, Meningocele, Cleft palate, Macroglossia, Holoprosencephaly |
ORPHA:3376 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Renal agenesis, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Bilateral cryptorc... |
ORPHA:2326 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ectopic kidney, Micrognathia, Hypoplasia of the maxilla, Anotia, Vesicou... |
OMIM:164210 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:619869 |
Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:1923 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Cleft palate |
ORPHA:1166 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint ... |
OMIM:300166 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Inguinal hernia, Wide nose, Papilledema, Decreased ner... |
ORPHA:580 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Gastroesophageal reflux, Atria... |
OMIM:249270 |
Congenital Myopathy 13 |
|
Micrognathia, Cryptorchidism, Cleft palate, High palate, Bilateral talipes equinovarus, Low-set e... |
OMIM:255995 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Gastroesophageal reflu... |
OMIM:618316 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Wiedemann-Steiner Syndrome |
|
Tapered finger, Contracture of the distal interphalangeal joint of the fingers, Short toe, Small ... |
OMIM:605130 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Ventricular septal defect, Cleft palate |
OMIM:147800 |
Generalized Arterial Calcification Of Infancy |
|
Edema, Polyhydramnios, Hydrops fetalis, Nephrocalcinosis, Abnormal calcification of the carpal bo... |
ORPHA:51608 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip, Cryptorchid... |
ORPHA:495875 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Cor pulmonale, Steatorrhea |
OMIM:219700 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Gastroesophageal reflux, Atrial septal defect, Umbilica... |
OMIM:619769 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopros... |
ORPHA:77298 |
Waardenburg Syndrome Type 1 |
|
Cleft palate, Meningocele, Aganglionic megacolon, Spina bifida |
ORPHA:894 |
Wrinkly Skin Syndrome |
|
Scapular winging, Muscular ventricular septal defect, Atrial septal dilatation, Hypoplasia of the... |
OMIM:278250 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Mixed hearing impairment, Recurrent pneumonia |
OMIM:620012 |
Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Narrow palate, High palate, Pulmoni... |
OMIM:615102 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... |
ORPHA:2241 |
Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Cleft palate, Spinal dysraphism, Transposition of the g... |
ORPHA:1926 |
Mednik Syndrome |
|
Neonatal death, Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
Greenberg Dysplasia |
|
Micromelia, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death, Short phalanx of finger... |
OMIM:215140 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Vaginal atr... |
OMIM:248450 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... |
OMIM:258480 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Mandibular prognathia, Mixed hearing impairment, Recurrent urinary t... |
ORPHA:309282 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Truncus arteriosus, Ventricular septal defect, Cleft palate |
ORPHA:2516 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ovotestis, Cleft palate, Sex reversal, Lo... |
OMIM:611812 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, High palate |
OMIM:620184 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand |
OMIM:300845 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Cleft hard palate, ... |
ORPHA:2152 |
Immunodeficiency 40 |
|
Focal active colitis, Rectal fistula |
OMIM:616433 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Microtia, Abnorma... |
OMIM:154500 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Renal agenesis, Abnormal external genitalia, Polyhydramnios, Inte... |
ORPHA:1199 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing ... |
OMIM:193500 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs... |
OMIM:227645 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognathia, Bilatera... |
OMIM:150230 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteoarthritis, High palate, Conductive hearing impairment, Limitation of movement ... |
ORPHA:740 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Perimembranous ventricula... |
OMIM:600987 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Flared nostrils, Wide nasal bridge, Short columella, Anal atresia |
OMIM:182210 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Renal agenesis, Hypospadias, Abnormal tibia morphology, Split hand, H... |
ORPHA:1335 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Spina bifida |
ORPHA:1327 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Cleft palate |
OMIM:620210 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis,... |
ORPHA:666 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect |
OMIM:602501 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Abnorm... |
ORPHA:2908 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, High palate, Cleft palate |
OMIM:609654 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis |
ORPHA:3449 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Microcolon |
OMIM:619362 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Craniosynostosis, Preaxial hand polydactyly, Enlarged m... |
ORPHA:508533 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Partial anomalous pulmonary veno... |
OMIM:619657 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... |
OMIM:179613 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Anal atresia |
OMIM:180500 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Bifid... |
ORPHA:404440 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atres... |
ORPHA:436252 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Hydrocephalus, Cleft palate, Umbilical hernia, Hype... |
OMIM:612938 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Jansen-De Vries Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617450 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Gastroesophageal reflux, Atrial septal defect, ... |
ORPHA:329224 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Luscan-Lumish Syndrome |
|
Advanced ossification of carpal bones |
OMIM:616831 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Neoplasm of the gastrointestinal trac... |
ORPHA:524 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Heart Block, Congenital |
|
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node |
OMIM:234700 |
Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea |
ORPHA:586 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Macroglossia, High palate, Umbilical hernia... |
ORPHA:369891 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture... |
ORPHA:89842 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Carious teeth, Urethral stenosis, Palmoplantar hype... |
OMIM:173650 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Cleft palate, Atrial septal defect, Patent foramen ovale, Right ventri... |
OMIM:614261 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Macrotia, Hy... |
ORPHA:3042 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Bilateral cleft lip and palate |
ORPHA:2003 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Cleft palate |
OMIM:617201 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Ectopic kidney, Micrognathia, Anorectal anomaly, Triphalangeal t... |
ORPHA:233 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Macroglossia, Ventricular septal defect, Patent foramen ovale |
OMIM:615668 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Cleft palate |
OMIM:617616 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Short phalanx of finger |
OMIM:208060 |
Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation |
ORPHA:2328 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Short columella, Anal atresia |
ORPHA:3164 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, High palate |
OMIM:618950 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cleft palate, Gastroesophageal reflux, Atrial ... |
ORPHA:457193 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Lambotte Syndrome |
|
Ventricular septal defect, Semilobar holoprosencephaly |
OMIM:245552 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Ventricular septal defect, Hamartoma of tongue, Tetralogy of Fallot, Cleft... |
OMIM:174300 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Umbilical hernia, Pa... |
ORPHA:500159 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Ascites, Acholic ... |
OMIM:615710 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Cleft palate |
OMIM:614424 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bones, Short pha... |
OMIM:608612 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Gastroesophageal reflux, Ventricular septal defect, Dysphagia |
OMIM:619909 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,... |
OMIM:618748 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Anal fiss... |
ORPHA:79408 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Dilated cardiomyopathy, High palate, Cleft palate |
OMIM:616730 |
King-Denborough Syndrome |
|
Ventricular septal defect, High palate |
OMIM:619542 |
3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate, Pulmonic stenosis... |
ORPHA:435638 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta, Cleft palate |
ORPHA:2311 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Metap... |
ORPHA:221016 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Pelger-Huet Anomaly |
|
Umbilical hernia, Ventricular septal defect, Median cleft palate |
OMIM:169400 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615355 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Meningocele |
ORPHA:2031 |
Pontocerebellar Hypoplasia, Type 8 |
|
Gastroesophageal reflux, Ventricular septal defect, Patent foramen ovale, Dysphagia |
OMIM:614961 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... |
ORPHA:3097 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Fibrous syngnathia, Cleft... |
OMIM:119500 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Cleft palate, Hydranencephaly, Microglossia |
ORPHA:2839 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Submucous cleft hard palate, ... |
ORPHA:457279 |
Leprechaunism |
|
Hypertrophic cardiomyopathy, Rectal prolapse, Megarectum |
ORPHA:508 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, High palate, Atrial septal ... |
OMIM:300963 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Duode... |
OMIM:619381 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Cleft hard palate, ... |
ORPHA:261537 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta... |
OMIM:118650 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Dilated... |
OMIM:619343 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, La... |
OMIM:619269 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Choreoathetosis, Cholesteatoma, Dystonia |
OMIM:610978 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
ORPHA:261190 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,... |
ORPHA:99776 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Ventricular septal defect |
ORPHA:79243 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida |
ORPHA:99742 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Gastroesophageal reflux, Ventricular septal defect |
OMIM:617635 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation |
OMIM:619431 |
Frank-Ter Haar Syndrome |
|
Bowing of the long bones, Delayed cranial suture closure, Metatarsus adductus, Flared metaphysis,... |
OMIM:249420 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Delayed closure of the anterior fontanelle, Short toe, Recurrent mandibular subluxations, Limb un... |
OMIM:225410 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Bifid nasal tip |
ORPHA:2717 |
19P13.3 Microduplication Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Cleft palate |
ORPHA:447980 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Stillbirth, Blind vagina, Bicornuat... |
OMIM:608978 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ... |
ORPHA:26793 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, S... |
OMIM:301043 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Ventricular septal defect, High palate |
OMIM:617452 |
Classical Ehlers-Danlos Syndrome |
|
Hiatus hernia, Rectal prolapse, Mitral valve prolapse, Gastroesophageal reflux, Tricuspid valve p... |
ORPHA:287 |
Rere-Related Neurodevelopmental Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Dysphagia, Abnormal heart morphology |
ORPHA:494344 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Patellar hypopla... |
ORPHA:221008 |
Costello Syndrome |
|
Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Gastroesophageal r... |
ORPHA:3071 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Median cleft palate |
ORPHA:1827 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Urinary incontinence, Uplifted earlobe, Cleft hard palate, ... |
ORPHA:261552 |
Trisomy 13 |
|
Atrial septal defect, High, narrow palate, Ventricular septal defect, Cleft palate |
ORPHA:3378 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Umbilical hernia, Ventricular septal defect, Cleft palate |
ORPHA:1770 |
Desbuquois Syndrome |
|
Ventricular septal defect |
ORPHA:1425 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Gast... |
ORPHA:453499 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, High palate, Dextrotransposition of the great arteries |
OMIM:619995 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Cardiomegaly |
OMIM:616897 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Ventricular septal defect, High palate |
ORPHA:505237 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Esophagitis, Tetralogy of... |
OMIM:612562 |
Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Dilated cardiomyopathy, High palate, Cleft palate |
OMIM:618348 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hydrocephalus, Ventricular septal defect |
OMIM:615630 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, High palate |
OMIM:619762 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Prominent metopic ridge, Rhizomelia, Craniosynostosis, Phalangeal cone-shaped epiphyses, Postaxia... |
OMIM:266920 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Ventricular septal defect, High palate, Dysphagia |
OMIM:617061 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
Zellweger Syndrome |
|
Pyloric stenosis, Ventricular septal defect, High palate, Malabsorption |
ORPHA:912 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, High palate, Cardiomegaly |
OMIM:618798 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, High palate |
OMIM:613398 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect |
OMIM:603387 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Gastrointestinal dysmotility, Ventricular septal defect, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Ventricular septal defect, Intestinal malrotation |
OMIM:222448 |
Short Stature-Micrognathia Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, High palate, Cleft palate |
OMIM:617164 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept... |
ORPHA:392 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Cleft palate, Furrowed tongue, High palate, Gastroesophageal reflux, A... |
OMIM:616449 |
Neu-Laxova Syndrome 2 |
|
Cleft palate, High palate, Spina bifida |
OMIM:616038 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ventricular septal defect, Ankyloglossia, Cleft palate |
OMIM:618021 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:615879 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Gastroesophageal reflux, Spina bifida occulta, Ventricular septal defect |
OMIM:617360 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Hypoplastic left heart,... |
ORPHA:2209 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Narrow palate, Gastroe... |
OMIM:605039 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Heart And Brain Malformation Syndrome |
|
High, narrow palate, Ventricular septal defect, Gastroesophageal reflux |
OMIM:616920 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, High palate, Holoprosencephaly, Cleft palate |
OMIM:612530 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, High palate |
OMIM:270450 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Dysphagia |
OMIM:618325 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Cleft palate, Gastroesophageal reflux, Holoprosencephaly, Atrial septa... |
ORPHA:261236 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Malakoplakia |
|
Neoplasm of the rectum, Neoplasm of the colon |
ORPHA:556 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Intestinal malrotation, Coronary sinus enlarge... |
OMIM:618280 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At... |
ORPHA:477817 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Cleft palate, Perianal dermatitis... |
OMIM:619573 |
Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Double outlet right ventricle, High palate, Ventricular septal defect |
OMIM:616652 |
Coffin-Lowry Syndrome |
|
Rectal prolapse, High palate, Narrow palate |
OMIM:303600 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Perimembranous ventricular septal ... |
OMIM:158170 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ... |
ORPHA:1686 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, High, narrow palate, Hydrocephalus, High palate, Umbilical hernia |
OMIM:613776 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, High palate, Protein-losing enteropathy, Cleft palate |
OMIM:235255 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, High palate, Cleft palate |
ORPHA:52055 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo... |
OMIM:619103 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Mitral valve prolapse, High palate, Atrial sept... |
OMIM:121050 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, A... |
OMIM:301030 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High palate |
OMIM:617022 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618870 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect |
OMIM:601927 |
Brachydactyly, Type B1 |
|
Ventricular septal defect |
OMIM:113000 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Narrow palate, Cleft palate, ... |
OMIM:610443 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Rectal abscess |
OMIM:608203 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Duodenal atresia |
OMIM:614114 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Atrioventricular canal defect, Pulmonic stenosis, Cleft palate |
OMIM:619123 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Cardiomyopathy, Gastroesophag... |
ORPHA:354 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Hypospadias, Anteverted nares, Micrognathia, Tremor, Wide nasal bridg... |
OMIM:220111 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, High palate, Pulmo... |
OMIM:616564 |
Loeys-Dietz Syndrome 5 |
|
Ventricular septal defect, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus ... |
OMIM:615582 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Micrognathia, Aminoaciduria, Protein-losing enteropathy, Hypospadias, Depresse... |
OMIM:619991 |
Ogden Syndrome |
|
High, narrow palate, Ventricular septal defect |
ORPHA:276432 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect |
ORPHA:85194 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Macroglossia, Gastroesophagea... |
ORPHA:261494 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate... |
ORPHA:261330 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, High pal... |
OMIM:605275 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect |
OMIM:615673 |
Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis of maxillary ... |
ORPHA:1401 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
Transaldolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:606003 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Vaginal drynes... |
ORPHA:95455 |
Noonan Syndrome 4 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:610733 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Gastroesophageal reflux, Ventricular septal defect, Dysphagia |
OMIM:619229 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Hydrocephalus, Spi... |
ORPHA:2162 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, High palate, Gastroesophageal ref... |
OMIM:610759 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Gastroesophageal ref... |
ORPHA:2092 |
Feingold Syndrome 1 |
|
Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Esophageal atresia, Gastrointesti... |
OMIM:164280 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect, High palate |
OMIM:309520 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... |
OMIM:615474 |
Leukocyte Adhesion Deficiency, Type I |
|
Rectal abscess |
OMIM:116920 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital meningocele |
OMIM:616546 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, High palate |
OMIM:620113 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, High palate, Dysphagia |
ORPHA:261250 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect |
OMIM:617021 |
Keutel Syndrome |
|
Ventricular septal defect |
ORPHA:85202 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect |
ORPHA:3078 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess |
OMIM:601495 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Hypoplastic left h... |
OMIM:100300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula |
ORPHA:268249 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Transketolase Deficiency |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology |
ORPHA:488618 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:608149 |
Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Anomalous pulmonary venous return, Gastroesophage... |
OMIM:616368 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele, Gastroesophageal reflux |
ORPHA:397715 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Gastroesophageal reflux, Ventricular septal defect |
OMIM:300998 |
Jacobsen Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Holoprosencephaly, Atrial septal defect |
OMIM:147791 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Mitral valve prolapse, High palate, Pulmonic stenosis, Tricuspid valve... |
OMIM:609942 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, High palate, Intestinal malrotation |
OMIM:244450 |
Basal Cell Nevus Syndrome 1 |
|
Cleft palate, Hydrocephalus, Hamartomatous stomach polyps, Spina bifida |
OMIM:109400 |
Alagille Syndrome |
|
Atrial septal defect, Spina bifida occulta, Ventricular septal defect |
ORPHA:52 |
Neu-Laxova Syndrome |
|
Cleft palate, Submucous cleft hard palate, Bifid uvula, Spina bifida |
ORPHA:2671 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula, Abnormal cardiac ... |
OMIM:614294 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Cleft palate, Bifid uvula |
OMIM:614921 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Atrial sept... |
OMIM:263520 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Ileus, Aganglionic megacolon, Microcolon |
ORPHA:163746 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Nail-Patella Syndrome |
|
Cleft palate, Spina bifida |
OMIM:161200 |
Char Syndrome |
|
Ventricular septal defect |
ORPHA:46627 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect |
OMIM:219730 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:609460 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Lathosterolosis |
|
Meningocele, High palate |
ORPHA:46059 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Macroglossia, High palate, Gastroesophageal reflux, Patent foramen ovale |
OMIM:613457 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Ventricular septal defect, Large placenta, Pulmonic stenosis, Tetralogy of Fallo... |
OMIM:222470 |
Phelan-Mcdermid Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, High palate |
OMIM:606232 |
Hardikar Syndrome |
|
Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis... |
OMIM:301068 |
Alg9-Cdg |
|
Villous atrophy, Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Righ... |
ORPHA:79328 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palat... |
OMIM:192430 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ventricular septal defect, Protruding tongue, High, narrow palate, Macroglossia, High palate, Dys... |
OMIM:214100 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect, High palate, Cleft palate |
ORPHA:251028 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, High palate, Spina bifida |
OMIM:234100 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect |
ORPHA:369929 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Cle... |
OMIM:610828 |
C Syndrome |
|
Ventricular septal defect, High palate |
OMIM:211750 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft palate, Furrowed tongue, Atrial septal defect |
ORPHA:464738 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Protruding tongue |
OMIM:212066 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Rectal abscess |
OMIM:233710 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Cohen Syndrome |
|
High, narrow palate, Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Mitral valve pr... |
ORPHA:193 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc... |
OMIM:617478 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Aortic valve stenosis, Pulmonic stenosis, Narrow palate |
OMIM:277600 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Rectal abscess |
OMIM:233690 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia |
OMIM:619351 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Hiatus hernia, Gastroesophageal reflux, Volvulus |
OMIM:616682 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:618775 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:2519 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Macroglossia, Gastroesophageal reflux, High palate, Steatorrhea |
OMIM:618268 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Patent foramen o... |
OMIM:617506 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Furrowed tongue, Macroglossia, Cardiomyopathy, High palate, Atrial sep... |
ORPHA:769 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Atrioventricular canal defect... |
ORPHA:818 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Ventricular septal defect, Dysphagia |
ORPHA:506 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect |
ORPHA:166035 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Hydrocephalus, Cleft palate, ... |
ORPHA:955 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Gastroesophageal reflux, Ventricular septal defect, High palate |
OMIM:614653 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, High, narrow palate, Hydrocephalus, Ventricular septal defect |
OMIM:619575 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Teebi-Shaltout Syndrome |
|
High, narrow palate, Aortic valve stenosis, Ventricular septal defect, Cleft palate |
OMIM:272950 |
Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Cleft palate |
ORPHA:1692 |
Aicardi Syndrome |
|
Hepatoblastoma, Cleft palate, Spina bifida, Hiatus hernia |
OMIM:304050 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
Tbck-Related Intellectual Disability Syndrome |
|
Macroglossia, High, narrow palate, Ventricular septal defect, Pulmonic stenosis |
ORPHA:488632 |
Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616777 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, C... |
OMIM:300967 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Narrow palate, High palate, Pulmonic stenosis, Umbilical hernia, Aorti... |
OMIM:608328 |
De Barsy Syndrome |
|
Umbilical hernia, Ventricular septal defect, High palate |
ORPHA:2962 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Mgat2-Cdg |
|
Gastroesophageal reflux, Ventricular septal defect, Abnormal heart morphology |
ORPHA:79329 |
Lymphedema-Distichiasis Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Cleft palate |
OMIM:153400 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Furrowed tongue, High palate, Gastroesophageal reflux, Patent foramen ... |
OMIM:616975 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Anencephaly, Cleft palate, Sti... |
OMIM:236680 |
Brain-Lung-Thyroid Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... |
ORPHA:209905 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
ORPHA:251014 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Ventricular septal defect, High palate, Cleft palate |
OMIM:614866 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Ventricular septal defect, Duodenal atresia |
OMIM:618846 |
Trichothiodystrophy |
|
High, narrow palate, Umbilical hernia, Ventricular septal defect, Cardiomyopathy |
ORPHA:33364 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Restrictive Dermopathy |
|
Dextrocardia, Large placenta, Submucous cleft hard palate, Transposition of the great arteries, S... |
ORPHA:1662 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Granulomatous Disease, Chronic, X-Linked |
|
Rectal abscess |
OMIM:306400 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, High palate, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... |
OMIM:607721 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Cleft palate, Macroglossia, Pulmonic stenosis, Atrial ... |
OMIM:614609 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Cleft palate |
ORPHA:163979 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Macroglossia, High palate, Umbilical hernia |
ORPHA:96191 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, High, narrow palate, Narrow palate, Cleft palate, Mitral... |
OMIM:180849 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, High palate, Holoprosencephaly, Umbilical hernia, Patent foramen ovale |
OMIM:613884 |
Costello Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Mitral valve prolapse, Macroglossia, ... |
OMIM:218040 |
Arboleda-Tham Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Secundum atrial septal defect, Cleft palate, G... |
OMIM:616268 |
Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Glossoptosis, High palat... |
OMIM:616145 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Ventricular septal defect, Cleft palate, Cardiomegaly |
ORPHA:137675 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Pyloric stenosis |
OMIM:267750 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Cleft palate |
OMIM:300712 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Ventricular septal defect, Cleft palate, Ventricular septal hyp... |
OMIM:608670 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Ventricular septal defect |
OMIM:206900 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve |
ORPHA:96201 |
Arima Syndrome |
|
Occipital meningocele, Esophageal varix |
OMIM:243910 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Secundum atrial... |
OMIM:619534 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, High, narrow palate, Abnormal left ventricle morphology, Ebstein anoma... |
ORPHA:466791 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Cardiac myxoma, Neoplasm of the rectum, Hepatocellu... |
ORPHA:1359 |
Chime Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Cleft palate, Transposition of the great arteries... |
ORPHA:3474 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Gastroesophageal reflux, Bifid uvula, Spina bifida |
OMIM:619480 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect, Cleft pa... |
ORPHA:1724 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Cleft palate, Gastroesophag... |
OMIM:301044 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Pulmonic stenosis, Atrial septal ... |
OMIM:602782 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect, Cleft palate |
OMIM:600460 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, High ... |
ORPHA:363700 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... |
ORPHA:163956 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Cleft soft palate, Abnormal heart morphology, High palate, Adenocarcin... |
ORPHA:124 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Coffin-Siris Syndrome |
|
Ventricular septal defect, Hepatoblastoma, Abnormal heart morphology, Atrial septal defect, Tetra... |
ORPHA:1465 |
Simpson-Golabi-Behmel Syndrome |
|
Ventricular septal defect, Hepatoblastoma, High, narrow palate, Cleft palate, Macroglossia, Cardi... |
ORPHA:373 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, High, narrow palate, Pyloric stenosis, Hydrocephalus, Gl... |
ORPHA:3472 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:614947 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Submucous cleft hard palate, Bifid uvula, Atrial septal defect, Atriov... |
ORPHA:3047 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr... |
ORPHA:99050 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Ventricular septal defect, High palate |
OMIM:619418 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cleft palate, Atrial septal defect, Aortic valve... |
OMIM:139210 |
Marfan Syndrome |
|
High, narrow palate, Meningocele, Cleft palate |
ORPHA:558 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:444072 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Ventricular septal defect, High, narrow palate, Short uvula, Hydrocephalus... |
OMIM:619475 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
Chromosome 16P13.3 Duplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Bifid uvula |
OMIM:613458 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect |
OMIM:619306 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Early Infantile Epileptic Encephalopathy |
|
Umbilical hernia, Ventricular septal defect, Cleft palate |
ORPHA:1934 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Ventricular septal defect, Hepatoblastoma, Large placenta, Spinal dysraphism, Macroglossia, Atria... |
ORPHA:96334 |
Noonan Syndrome 1 |
|
Ventricular septal defect, High, narrow palate, Cleft palate, High palate, Pulmonic stenosis, Atr... |
OMIM:163950 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Gastroesophageal reflux, Dilatation of the ventricular cavity, Ventricular ... |
ORPHA:459070 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Hamartoma of tongue, Cleft palate, Aplasia of the epiglottis, Lobulate... |
ORPHA:434179 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Gastroesophageal ref... |
ORPHA:438213 |
Phace Association |
|
Ventricular septal defect |
OMIM:606519 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Gastroesophageal reflux, Ventricular septal defect, Tetralogy of Fallot, Ankyloglossia |
OMIM:619525 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis |
ORPHA:391665 |
Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hydrocephalus, Frontal encephalocele, Cleft palate, Stillbirth, High p... |
OMIM:268300 |
Alzahrani-Kuwahara Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement |
OMIM:619268 |
Omodysplasia 1 |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect |
OMIM:258315 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect |
OMIM:123700 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Umbilical hernia, Ventricular septal defect, High palate, Bifid uvula |
OMIM:620330 |
Eisenmenger Syndrome |
|
Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacterial endocardit... |
ORPHA:97214 |
Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary window |
OMIM:620025 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
Keutel Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Pyloric stenosis, Cardiomyopathy, High palate, Tetralogy of Fallot, Pa... |
OMIM:216340 |