| Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Talipes equinovarus, Cleft palate, Anophthalmia, Polydactyly, Postaxial hand pol... |
OMIM:613885 |
| Acalvaria |
|
Hydrocephalus, Calvarial skull defect, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the... |
ORPHA:945 |
| Anencephaly 2 |
|
Median cleft palate, Anophthalmia, Anencephaly, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Cleft palate, Edema, Rocker bottom foot, Intrauterine growth... |
OMIM:616570 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Camptodactyly of finger, Synos... |
ORPHA:957 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... |
OMIM:206920 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Occipital encephalocele, Anence... |
OMIM:614175 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Anophthalmia, Microphthalmia, Da... |
OMIM:164180 |
| Hydrolethalus |
|
Hydrocephalus, Cleft palate, Gingival cleft, Anencephaly, Bifid uvula, Arrhinencephaly, Anophthal... |
ORPHA:2189 |
| Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:233270 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Cleft palate, Anencephaly, Agenes... |
OMIM:611134 |
| Aplasia Cutis Congenita |
|
Calvarial skull defect, Spinal dysraphism, Skin ulcer, Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Triangular mouth, Spindle-shaped finger, Cutaneous syndactyly, F... |
ORPHA:166024 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Intrau... |
ORPHA:1327 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:615771 |
| Anophthalmia Plus Syndrome |
|
Cleft palate, Anophthalmia, Deviation of finger, Bilateral cleft lip and palate, Non-midline clef... |
ORPHA:1104 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... |
OMIM:211960 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Wide mouth, Gingival overgrowth, Metaphyseal dysplasia, Facial ed... |
ORPHA:3219 |
| Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... |
OMIM:614120 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius, Non-midline cleft lip,... |
ORPHA:2476 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Frontal Encephalocele |
|
Hydrocephalus, Calvarial skull defect, Dolichocephaly, Encephalocele, Spina bifida |
ORPHA:1931 |
| Macrosomia With Microphthalmia, Lethal |
|
Median cleft palate, Microphthalmia |
OMIM:248110 |
| Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Abnormal cerebellum morphology, Thin vermilion border, Abnormal brainstem morpholo... |
ORPHA:1532 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Joubert Syndrome 10 |
|
Postaxial polydactyly, Frontal bossing, Cerebellar vermis hypoplasia, Deep philtrum, Thick vermil... |
OMIM:300804 |
| Trisomy 13 |
|
Ectrodactyly, Calvarial skull defect, High, narrow palate, Cleft palate, Abnormality of the denti... |
ORPHA:3378 |
| Trisomy 1Q |
|
Anal atresia, Narrow mouth, Hydrocephalus, Cleft palate, Arachnodactyly, Camptodactyly of finger,... |
ORPHA:261344 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Hartsfield Syndrome |
|
Intrauterine growth retardation, Microphthalmia, Cleft palate, Craniosynostosis, Aplasia/Hypoplas... |
ORPHA:2117 |
| Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Hydrocephalus, Talipes equinovarus, Cleft palate, Aplasia/Hypoplasia of t... |
ORPHA:2839 |
| Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Dolichocephaly, Cutaneous syndactyly of toes, Met... |
OMIM:612961 |
| Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Hydrocephalus, Narrow palate, Cleft palate, Craniosyno... |
OMIM:605627 |
| Joubert Syndrome 22 |
|
Intrauterine growth retardation, 2-3 toe syndactyly, Agenesis of cerebellar vermis, Postaxial han... |
OMIM:615665 |
| 2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Cleft palate, Short philtrum, Camptodactyly of finger... |
ORPHA:1617 |
| Czeizel-Losonci Syndrome |
|
High palate, Myelomeningocele, Hydrocephalus, Ectrodactyly, Split foot, Thin calvarium, Tracheoes... |
ORPHA:2437 |
| Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| 20Q11.2 Microdeletion Syndrome |
|
Intrauterine growth retardation, Adducted thumb, Short philtrum, Brachydactyly, Finger clinodacty... |
ORPHA:444051 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
| Pierpont Syndrome |
|
Short toe, Long upper lip, Prominent fingertip pads, Everted lower lip vermilion, Thin vermilion ... |
ORPHA:487825 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Craniosynostosis, Arrhinencephaly, Cerebellar hypoplasia, Frontal bossing, Septo-o... |
ORPHA:1528 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Schisis Association |
|
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Unilateral cleft ... |
ORPHA:63862 |
| Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Anophthalmia, Postaxial ha... |
ORPHA:66625 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Abnormal calvaria morphology, Median cleft palate, Microphthalmia |
ORPHA:2432 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hydrocephalus, Cleft palate, Macrodontia, True anophthalmia, Abnormality of the uppe... |
ORPHA:1106 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Pierpont Syndrome |
|
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... |
OMIM:602342 |
| Neu-Laxova Syndrome 2 |
|
High palate, Cleft palate, Cerebellar hypoplasia, Polyhydramnios, Edema, Rocker bottom foot, Spin... |
OMIM:616038 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... |
OMIM:603194 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger ... |
ORPHA:2935 |
| Mmep Syndrome |
|
Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Microphthalmia |
ORPHA:3434 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Achondroplasia |
|
Bowing of the legs, Hydrocephalus, Trident hand, Flared metaphysis, Brachydactyly, Short femoral ... |
OMIM:100800 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Hydrocephalus, Short philtrum, Cerebellar hypoplasia, Metaphyseal cupping of metacarp... |
ORPHA:163966 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Oral cleft, Microphthalmia, Cerebellar malformation, Occipital encephalocele |
ORPHA:324416 |
| Joubert Syndrome 36 |
|
Mesoaxial hand polydactyly, Molar tooth sign on MRI, Open mouth |
OMIM:618763 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Everted lower lip vermilion, Short philtrum, Hypoplasia of the pons, An... |
ORPHA:411986 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Microphthalmia,... |
OMIM:218670 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... |
OMIM:136760 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly |
ORPHA:294975 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Ethmoidal encephalocele, Abnormal midbrain morpho... |
ORPHA:280195 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Microphthalmia, Cleft palate, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Intrauterine growth retardation, Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Apl... |
ORPHA:1908 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Brachycephaly, Calvarial skull defect, Encephalocele, Coronal craniosynostosis, Abnormality of th... |
ORPHA:228390 |
| Lissencephaly 8 |
|
Hypoplasia of the brainstem, Talipes equinovarus, Cerebellar hypoplasia, Microphthalmia, Occipita... |
OMIM:617255 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... |
OMIM:615297 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Anophthalmia, Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Mic... |
ORPHA:139471 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Narrow mouth, Brachycephaly, Microphthalmia |
ORPHA:2528 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the dentition, Radioulnar synostosis, Abnormality ... |
ORPHA:3268 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Cleft palate, Arachnodactyly, Oligodontia, Brachydact... |
OMIM:600325 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Split foot, Premature skin wrinkling, Oral cleft, Microphthalmia, ... |
OMIM:601349 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Mosaic Trisomy 9 |
|
High palate, Intrauterine growth retardation, Talipes equinovarus, Cleft palate, Dandy-Walker mal... |
ORPHA:99776 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyl... |
OMIM:611561 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Microphthalmia, Elbow dislo... |
ORPHA:2538 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Prominent occiput, Frontal bossing, Encephalocele, Platybasia, Dandy-Walker malform... |
ORPHA:217 |
| Trisomy 18 |
|
Cleft palate, Anencephaly, Abnormality of the upper limb, Microphthalmia, Intrauterine growth ret... |
ORPHA:3380 |
| Cousin Syndrome |
|
Hydrocephalus, Cleft palate, Rhizomelia, Microphthalmia, Absent proximal finger flexion creases, ... |
OMIM:260660 |
| Joubert Syndrome 2 |
|
High palate, Elongated superior cerebellar peduncle, Hydrocephalus, Encephalocele, Dolichocephaly... |
OMIM:608091 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... |
ORPHA:380 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Cleft palate, Split foot, Syndactyly, Broad hallux, Triphalangea... |
OMIM:183600 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Optic n... |
OMIM:607597 |
| Vacterl With Hydrocephalus |
|
Anal atresia, Hydrocephalus, Intrauterine growth retardation, Aqueductal stenosis, Hypoplasia of ... |
ORPHA:3412 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Anophthalmia... |
OMIM:147250 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Cleft palate, Abnormal cerebellar vermis morphology, Anophthalmia, Bifid uvula, Ce... |
ORPHA:899 |
| Iniencephaly |
|
Myelomeningocele, Anal atresia, Narrow mouth, Duodenal atresia, Hydrocephalus, Talipes equinovaru... |
ORPHA:63259 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Sho... |
OMIM:274000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar ... |
OMIM:615181 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
| Hallermann-Streiff Syndrome |
|
High palate, Thin calvarium, Microphthalmia, Scaphocephaly, Selective tooth agenesis, Parietal bo... |
OMIM:234100 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... |
OMIM:300863 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Encephalocele, Molar tooth sign o... |
OMIM:611560 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... |
OMIM:236500 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Cleft upper lip, Talipes equinovarus, Cleft palate, Holoprosencephaly, Dolichocephal... |
OMIM:612530 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short philtrum, Downturned corners of mouth, Frontal bossing, Rhizomelia, Abnormal epiphysis morp... |
ORPHA:93267 |
| Monosomy 18P |
|
Tooth malposition, Cleft palate, Hypodontia, Holoprosencephaly, Short philtrum, Brachydactyly, Ca... |
ORPHA:1598 |
| Carpenter Syndrome |
|
Preaxial foot polydactyly, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Clo... |
ORPHA:65759 |
| Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Dolichocephaly, Brachydactyly, Genu varum, Microphthal... |
ORPHA:1777 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Joint contracture of the hand, Craniosynostosis, Dolichocephaly, Camptodactyly of ... |
OMIM:175700 |
| Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Genu valgum, Lymphedema, Clinodactyly, Molar tooth sign on MRI |
OMIM:607131 |
| Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Anal atresia, Cleft palate, Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| Trisomy 20P |
|
Ectopic anus, Spina bifida, Plagiocephaly, Finger syndactyly, Everted lower lip vermilion, Dolich... |
ORPHA:261318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Microphthalmia |
OMIM:614830 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... |
OMIM:185900 |
| Moebius Syndrome |
|
High palate, Talipes equinovarus, Abnormality of the dentition, Brachydactyly, Bifid uvula, Short... |
OMIM:157900 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Microphthalmia |
OMIM:251700 |
| Pfeiffer Syndrome Type 1 |
|
High palate, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Broad hallux phalanx, Short ha... |
ORPHA:93258 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia affecting the eye, Elbow ankylosis, Abnormality of the wrist, Meningocele, Tar... |
ORPHA:3265 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... |
OMIM:619148 |
| Joubert Syndrome 37 |
|
High palate, Postaxial polydactyly, Frontal bossing, Cerebellar vermis hypoplasia, Microphthalmia... |
OMIM:619185 |
| Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Finger syndac... |
ORPHA:376 |
| Neu-Laxova Syndrome 1 |
|
Cleft palate, Micromelia, Small placenta, Rocker bottom foot, Microphthalmia, Generalized edema, ... |
OMIM:256520 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Molar tooth sign on MRI, Lobulated tongue, Postaxial polydactyly |
OMIM:617127 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Nail-Patella Syndrome |
|
Cleft upper lip, Microphakia, Clinodactyly of the 5th finger, Talipes equinovarus, Disproportiona... |
OMIM:161200 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cere... |
OMIM:613153 |
| Oculofaciocardiodental Syndrome |
|
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Radioulnar synostosis, Ham... |
ORPHA:2712 |
| Mosaic Trisomy 1 |
|
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar cr... |
ORPHA:1692 |
| Neu-Laxova Syndrome |
|
Cleft palate, Everted lower lip vermilion, Lack of skin elasticity, Abnormal cerebellar vermis mo... |
ORPHA:2671 |
| Focal Dermal Hypoplasia |
|
Abnormality of the dentition, Hypoplastic pelvis, Abnormal epiphysis morphology, Umbilical hernia... |
ORPHA:2092 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Abnormal femoral neck/head morphology, Slender finger, Cleft palate, Anterior plagio... |
ORPHA:163649 |
| Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Biparietal narrowing, Cleft palate, Oral cleft, Cerebellar vermis hypoplasia, Hand... |
ORPHA:220497 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Hydrops fetalis, Anence... |
OMIM:616546 |
| Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Talipes equinovarus, Cleft palate, Preaxial polyda... |
OMIM:603671 |
| 17Q12 Microduplication Syndrome |
|
Cleft palate, Tracheoesophageal fistula, Polyhydramnios, Microphthalmia, Finger syndactyly, Toe s... |
ORPHA:261272 |
| Cofs Syndrome |
|
Everted lower lip vermilion, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micro... |
ORPHA:1466 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of the cere... |
ORPHA:1926 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Chiari malformation, Syringomyelia, Spina bifida, Cervical myelo... |
OMIM:207950 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... |
ORPHA:1515 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Abnormal cerebellum morphology, Macroglossia, Optic nerve hypoplasia, Occipital en... |
ORPHA:370959 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Overlapping toe, Plagiocephaly, Hydrocephalus, Talipes equinovarus, Adducted thumb, ... |
OMIM:617822 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Basal Cell Nevus Syndrome |
|
Cleft upper lip, Hydrocephalus, Short distal phalanx of the thumb, Parietal bossing, Cleft palate... |
OMIM:109400 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Spina bifida occulta, Flat occiput, Bicoronal syn... |
OMIM:618736 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor, Difficulty in tongue movements, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hydrocephalus, Microphthalmia |
ORPHA:141333 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Narrow mouth, Abnormal morphology of the radius, Polyhydramnios, Microphthalmia |
ORPHA:3469 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Syndactyly, Polydactyly, Microphthalmia, Smooth philtrum |
OMIM:602501 |
| Joubert Syndrome 32 |
|
Frontal bossing, Abnormal cerebellum morphology, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:617757 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Cleft soft palate |
ORPHA:99742 |
| Duplication Of The Pituitary Gland |
|
Wide mouth, Abnormality of the tongue, Supernumerary tooth, Cleft palate, Brachyturricephaly, Pol... |
ORPHA:314621 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Meckel Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Preaxial hand polydactyly, Anencep... |
ORPHA:564 |
| Curry-Jones Syndrome |
|
Craniosynostosis, Intestinal malrotation, Syndactyly, Duplication of thumb phalanx, Cutaneous syn... |
OMIM:601707 |
| Holoprosencephaly |
|
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Median cleft lip and palate, Solitary median... |
ORPHA:2162 |
| Bresek Syndrome |
|
Plagiocephaly, Hydrocephalus, Cleft palate, Optic nerve hypoplasia, Postaxial hand polydactyly, M... |
ORPHA:85284 |
| Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Biparietal narrowing, Cleft palate, Oral cleft, Cerebellar vermis hypoplasia, Hand... |
ORPHA:220493 |
| Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
| Pfeiffer Syndrome |
|
High palate, Hydrocephalus, Elbow ankylosis, Coronal craniosynostosis, Brachyturricephaly, Short ... |
OMIM:101600 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Promi... |
ORPHA:2725 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Triploidy |
|
Aplasia/Hypoplasia affecting the eye, Wide mouth, Narrow mouth, Hydrocephalus, Cleft palate, Macr... |
ORPHA:3376 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Talipes equinovarus, High, narrow palate, Dolichocephaly, Camptodactyly of finger,... |
ORPHA:1101 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar ... |
OMIM:605282 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:610023 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Clinodactyly of the 5th finger, Cutis laxa, Craniosynostosis, Deep palmar crease, Lo... |
OMIM:619451 |
| Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Plagiocephaly, Macroglossia, Dysgenesis of the cerebellar... |
OMIM:213300 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bilateral single transverse palmar creases, Short thumb, Abnormal... |
ORPHA:1120 |
| Muenke Syndrome |
|
High palate, Dental malocclusion, Plagiocephaly, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:602849 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Cleft palate, Craniosynostosis, Oligohydramnios, Micromelia, Brachydactyly, Split ... |
ORPHA:2145 |
| Orofaciodigital Syndrome Type 6 |
|
High palate, Cleft palate, Preaxial polydactyly, Finger clinodactyly, Brachydactyly, Lobulated to... |
ORPHA:2754 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Anal atresia, Hypodontia, Cutaneous syndactyly, Neural tube defect, Conical toot... |
OMIM:119580 |
| Slc35A2-Cdg |
|
Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Abnormality of the hand, ... |
ORPHA:356961 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Intrauterine growth retardation, Cerebellar atrophy, Microphthalmia |
OMIM:616171 |
| Faciothoracogenital Syndrome |
|
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia |
OMIM:227320 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Joubert Syndrome 18 |
|
Intrauterine growth retardation, Molar tooth sign on MRI, Polydactyly, Camptodactyly |
OMIM:614815 |
| Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... |
ORPHA:1406 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly, Occipital... |
OMIM:614416 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Microphthalmia, Postaxial polydactyly, Short philtrum, Tented upper lip vermilion,... |
OMIM:614424 |
| Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:619582 |
| Holoprosencephaly 9 |
|
Cleft upper lip, Dental malocclusion, Hydrocephalus, Cleft palate, Holoprosencephaly, Optic nerve... |
OMIM:610829 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida, Intestinal duplication, Spinal cord lesion |
ORPHA:1756 |
| Focal Dermal Hypoplasia |
|
Hydrocephalus, Hiatus hernia, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth... |
OMIM:305600 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Excessive skin wrinkling on dorsum of hands and fingers, Bilateral microphthalmos |
OMIM:608763 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynostosis, Abnormali... |
OMIM:251230 |
| 3P25.3 Microdeletion Syndrome |
|
Overlapping toe, High, narrow palate, Cleft palate, Postaxial polydactyly, Short philtrum, 2-3 fi... |
ORPHA:435638 |
| Campomelic Dysplasia |
|
High palate, Hydrocephalus, Cleft palate, Femoral bowing, Short 1st metacarpal, Carious teeth, Bo... |
OMIM:114290 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Summitt Syndrome |
|
Syndactyly, Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Po... |
ORPHA:2547 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Myopathic Ehlers-Danlos Syndrome |
|
Talipes equinovarus, High, narrow palate, Joint contracture of the hand, Adducted thumb, Pallor, ... |
ORPHA:536516 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor, Hydrops fetalis, Polyhydramnios, Oligohydramnios |
ORPHA:163596 |
| Pfeiffer Syndrome Type 2 |
|
High palate, Anal atresia, Hydrocephalus, Aqueductal stenosis, Cleft palate, Intestinal malrotati... |
ORPHA:93259 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Tracheoesophageal fistula, Anophthalmia, Microphthalmia, Esopha... |
ORPHA:77298 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:120433 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Dysgenesis of the cerebellar vermis, R... |
ORPHA:397715 |
| Craniofrontonasal Dysplasia |
|
High palate, Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Abnormality of the ... |
ORPHA:1520 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Hand polydactyly, Encephalocele, Foot polydactyly, B... |
ORPHA:2318 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, Syndactyly, Microdontia, Camptodactyly, Widely spaced teeth, Split... |
OMIM:225280 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Marden-Walker Syndrome |
|
High palate, Narrow mouth, Talipes equinovarus, High, narrow palate, Cleft palate, Joint contract... |
OMIM:248700 |
| Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, 2-5 finger cutaneous syndactyly, Small hand, Prominent occiput, Bilatera... |
OMIM:619339 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Short clavicles, Cleft palate, Parietal foramina, Craniosynostosis, Cleft lip, ... |
ORPHA:60015 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Camptodactyly of toe, Campto... |
OMIM:300244 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Micromelia, Microphthalmia |
ORPHA:291 |
| Meckel Syndrome, Type 1 |
|
Wide mouth, Hydrocephalus, Cleft palate, Anencephaly, Lobulated tongue, Bowing of the long bones,... |
OMIM:249000 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Tooth agenesis, Cleft palate, Microphthalmia, Midface retrusion |
ORPHA:1135 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Cleft palate, Short uvula, Micromelia, Microdontia, Bowing of the long bones, Short ... |
OMIM:614091 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Intestinal malrotation, Syndactyly, Carious teet... |
OMIM:613684 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Narrow mouth, Thin vermilion border, Cerebellar hypoplasia, Cerebellar vermis hy... |
OMIM:600118 |
| Joubert Syndrome 30 |
|
Superior cerebellar dysplasia, Postaxial hand polydactyly, Cerebellar atrophy, Molar tooth sign o... |
OMIM:617622 |
| Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida, Bilateral microphthalmos |
OMIM:600122 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Dolichocephaly, C... |
ORPHA:2633 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Hypoplasia of the radius, Optic nerve hypoplasia, Short 1st metacarpal, Pallor, Chi... |
OMIM:609053 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Thin vermilion border, Dehydration, Long philtrum, Delayed eruptio... |
OMIM:214150 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Brachydactyly, Aplasia/Hypoplasia of the cerebellum, Frontal bossing, Abnormal met... |
ORPHA:93262 |
| Pontocerebellar Hypoplasia, Type 3 |
|
High palate, High, narrow palate, Long philtrum, Hypoplasia of the pons, Cerebellar hypoplasia, D... |
OMIM:608027 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Long philtrum, Dilated fourth ventricle, Cerebellar hypoplasia, Dry skin,... |
OMIM:619306 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
High palate, Wide mouth, Plagiocephaly, Macroglossia, Abnormality of the hand, Syndactyly, Campto... |
ORPHA:369891 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Encephalocele, Broad hallux phalanx, Long philtrum, Flat occiput, Broad thumb,... |
ORPHA:2211 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Hydrocephalus, Calvarial skull defect, Absent toe, B... |
ORPHA:974 |
| Mohr Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Partial duplication o... |
OMIM:252100 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 toe syndactyly, Clef... |
OMIM:614701 |
| Ring Chromosome 10 Syndrome |
|
Thin vermilion border, Long philtrum, Tapered finger, Frontal bossing, Sandal gap, Microphthalmia... |
ORPHA:1438 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Cleft palate, Postaxial polydactyly, Intestinal malrotation, Broad distal pha... |
ORPHA:404440 |
| Fanconi Anemia |
|
High palate, Abnormality of femur morphology, Hydrocephalus, Cleft palate, Tracheoesophageal fist... |
ORPHA:84 |
| Frontonasal Dysplasia 2 |
|
Calvarial skull defect, Anterior plagiocephaly, Parietal foramina, Craniosynostosis, Oligohydramn... |
OMIM:613451 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, 2-5 finger cutaneous syndactyly, Parietal foramina, Short philtrum, Brachydactyly,... |
OMIM:601224 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Redundant skin, Clinodactyly, Abnormal palate morphology, Finger syndactyly |
ORPHA:251046 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Braddock-Carey Syndrome 2 |
|
Wide mouth, Cleft palate, Clinodactyly, Microphthalmia, Pierre-Robin sequence |
OMIM:619981 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Narrow mouth, Broad long bones, Macrodontia of permanent maxillary central i... |
OMIM:257850 |
| Waardenburg Syndrome Type 1 |
|
Cleft upper lip, Cleft palate, Tented upper lip vermilion, Meningocele, Spina bifida, Aganglionic... |
ORPHA:894 |
| Joubert Syndrome 20 |
|
Syndactyly, Molar tooth sign on MRI, Postaxial polydactyly |
OMIM:614970 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Dolichocephaly, Spina bifida occulta, Deep philtrum, Abnormal pal... |
ORPHA:2475 |
| Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Clinodactyly of the 5th finger, Cleft palate, Glossoptosis, Short hard palate, ... |
ORPHA:1393 |
| Filippi Syndrome |
|
Hypodontia, Thin vermilion border, Short philtrum, Cutaneous syndactyly, Finger clinodactyly, Mic... |
OMIM:272440 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Tripha... |
OMIM:604757 |
| 14Q22Q23 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Anophthalmia, Bilateral single transverse palm... |
ORPHA:264200 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Hydrocephalus, Craniosynostosis, Thin vermilion border, Long philtrum, Radioulnar ... |
ORPHA:171839 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Microphthalmia, Syndromic 6 |
|
High palate, Flexion contracture of thumb, Cleft palate, Single transverse palmar crease, Microph... |
OMIM:607932 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| Apert Syndrome |
|
Hydrocephalus, Cleft palate, Craniosynostosis, Cutaneous syndactyly, Brachyturricephaly, Delayed ... |
OMIM:101200 |
| Stevenson-Carey Syndrome |
|
Narrow mouth, Joint contracture of the hand, Cerebellar hypoplasia, Camptodactyly, Downturned cor... |
OMIM:611961 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... |
OMIM:183802 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Ascites, Intrauterine growth retardation, Microphthalmia |
ORPHA:858 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Ectopic anus, Short distal phalanx of finger, Cleft palate, Arachnodactyly, Abnormality of the de... |
ORPHA:2994 |
| Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Craniosynostosis, Intestinal malrotation, Preaxial hand polydactyly... |
ORPHA:1553 |
| Clark-Baraitser Syndrome |
|
High palate, Wide mouth, Dolichocephaly, Short philtrum, Long philtrum, Downturned corners of mou... |
OMIM:617752 |
| Microgastria-Limb Reduction Defects Association |
|
Absent thumb, Hand oligodactyly, Intestinal malrotation, Hypoplasia of the radius, Anophthalmia, ... |
OMIM:156810 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Hydrocephalus, Macroglossia, Cleft palate, Buphthalmos, Partial absence of cereb... |
OMIM:613150 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Joubert Syndrome 21 |
|
Elongated superior cerebellar peduncle, Occipital encephalocele, Anophthalmia, Hypoplasia of the ... |
OMIM:615636 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Cutis laxa, Thin vermilion border, Long philtrum, Micromelia, Brachydactyly, Syndactyly, Single t... |
OMIM:614800 |
| Cockayne Syndrome Type 2 |
|
Anodontia, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primar... |
ORPHA:90322 |
| Cornelia De Lange Syndrome 2 |
|
High palate, Brachycephaly, Small hand, Brachydactyly, Limited elbow movement, Downturned corners... |
OMIM:300590 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Hydrocephalus, Unilambdoid synostosis, Long philtrum, Ulnar deviation of the wrist... |
OMIM:618577 |
| Heart And Brain Malformation Syndrome |
|
High, narrow palate, Everted lower lip vermilion, Camptodactyly of finger, Prominent occiput, Pol... |
OMIM:616920 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Syndactyly, Premature loss of primary teeth, Microdontia, Dry skin, Widely spaced teeth, Broad thumb |
OMIM:617364 |
| Roberts Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper l... |
ORPHA:3103 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Pfeiffer Syndrome Type 3 |
|
High palate, Anal atresia, Aqueductal stenosis, Cleft palate, Intestinal malrotation, Small hand,... |
ORPHA:93260 |
| Limb Body Wall Complex |
|
Myelomeningocele, Abnormality of the spinal cord, Hydrocephalus, Cleft palate, Encephalocele, Bil... |
ORPHA:2369 |
| Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Summitt Syndrome |
|
Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Brachyd... |
ORPHA:3210 |
| Yunis-Varon Syndrome |
|
Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb, Short philtrum, Tapered fi... |
ORPHA:3472 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, H... |
ORPHA:1263 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI |
OMIM:619111 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Alg3-Cdg |
|
High palate, Metaphyseal chondrodysplasia, Macroglossia, Dandy-Walker malformation, Hypoplasia of... |
ORPHA:79321 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Frontofacionasal Dysplasia |
|
Microphthalmia, Cleft palate, Non-midline cleft lip, Encephalocele, Brachycephaly, Midface retrusion |
ORPHA:1791 |
| Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... |
OMIM:169550 |
| Coach Syndrome 1 |
|
Wide mouth, Aplasia/Hypoplasia of the cerebellar vermis, Postaxial hand polydactyly, Cerebellar v... |
OMIM:216360 |
| Sandestig-Stefanova Syndrome |
|
High palate, Intrauterine growth retardation, Microphthalmia, Bilateral single transverse palmar ... |
OMIM:618804 |
| 2Q32Q33 Microdeletion Syndrome |
|
High palate, Narrow mouth, Clinodactyly of the 5th finger, Talipes equinovarus, Toe clinodactyly,... |
ORPHA:251019 |
| Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip |
OMIM:300484 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Delayed eruptio... |
OMIM:300166 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Short distal phalanx of fi... |
ORPHA:1914 |
| Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Anal stenosis, Anteriorly placed anus, Microphthalmia |
OMIM:248450 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Adams-Oliver Syndrome 2 |
|
Cerebellar hypoplasia, Single transverse palmar crease, Microphthalmia, Oligohydramnios, Retrocer... |
OMIM:614219 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... |
ORPHA:370010 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Adducted thumb, Short philtrum, Flared metaphysis, Camptodactyly of finge... |
OMIM:610758 |
| Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| 3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Cleft palate, Craniosynostosis, Abnormality of the dentition, Camptoda... |
ORPHA:251038 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal metaphy... |
ORPHA:175 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Brachydactyly, Slender long bone, Microphthalmia, Ankyloglossia... |
OMIM:602361 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Cerebellar hypoplasia, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
| Monosomy 5P |
|
High palate, Intrauterine growth retardation, Small hand, Finger syndactyly |
ORPHA:281 |
| Joubert Syndrome 17 |
|
Syndactyly, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Polydactyly |
OMIM:614615 |
