| Acalvaria |
|
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly, Aplasia... |
ORPHA:945 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... |
OMIM:613885 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Cleft palate, Talipes equinovarus, Cerebellar hypoplasia, Microphthalm... |
OMIM:616570 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism, Calvarial skull defect |
ORPHA:1114 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibia... |
OMIM:206920 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi... |
ORPHA:1327 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia, Da... |
OMIM:164180 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Delayed epiphyseal ossification, Clinodactyly, Cutaneous syndactyly, Genu valgum... |
ORPHA:166024 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Postaxial hand polydactyl... |
OMIM:611134 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Frontal bossing, Occipital encephalocele, Ulnar deviation of the hand, ... |
OMIM:614175 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... |
ORPHA:3219 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... |
ORPHA:1104 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia... |
ORPHA:2839 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cerebellar vermis,... |
OMIM:614815 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... |
OMIM:311895 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Joubert Syndrome 10 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Postaxial polydactyly, Deep philtrum, Thick vermil... |
OMIM:300804 |
| Trisomy 13 |
|
Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand... |
ORPHA:3378 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
| Trisomy 1Q |
|
Frontal bossing, Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Polyhydra... |
ORPHA:261344 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnorm... |
ORPHA:1532 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
| Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... |
OMIM:614120 |
| Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprose... |
ORPHA:2117 |
| Schisis Association |
|
Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... |
ORPHA:63862 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Cerebellar vermis hypoplasia, Optic nerve hypoplasi... |
OMIM:605627 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot pol... |
OMIM:615665 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Polyhydramnios, Spina bifida, Cleft... |
OMIM:616038 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| 20Q11.2 Microdeletion Syndrome |
|
Frontal bossing, Brachydactyly, Brainstem dysplasia, Finger clinodactyly, Short philtrum, Camptod... |
ORPHA:444051 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, C... |
ORPHA:1528 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Pierpont Syndrome |
|
Thin upper lip vermilion, Short toe, Brachycephaly, Broad philtrum, Deep palmar crease, Thin verm... |
ORPHA:487825 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615938 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Widely spaced teeth, High palate, Solita... |
ORPHA:66625 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology, Median cleft palate |
ORPHA:2432 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Brachycephaly, High palate, Short philtrum, Sho... |
OMIM:613776 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Pierpont Syndrome |
|
Short toe, Brachycephaly, Broad palm, Broad philtrum, Prominent median palatal raphe, Deep palmar... |
OMIM:602342 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar v... |
OMIM:614424 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p... |
ORPHA:2935 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Hypoplasia of the pons, Everted lower lip vermilion, Thic... |
ORPHA:411986 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Non-midline cleft ... |
ORPHA:1908 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Clinodactyly of ... |
ORPHA:1106 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Open mouth, Mesoaxial hand polydactyly |
OMIM:618763 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Cerebellar malformation, Microphthalmia |
ORPHA:324416 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Mmep Syndrome |
|
Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb, Microphthalmia |
ORPHA:3434 |
| Mosaic Trisomy 9 |
|
Intestinal malrotation, Micromelia, Rocker bottom foot, Elbow dislocation, Camptodactyly of finge... |
ORPHA:99776 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... |
OMIM:617127 |
| Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Anteriorly placed anus, Rhombencephalosynap... |
ORPHA:280195 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of... |
ORPHA:163966 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypop... |
OMIM:136760 |
| Trisomy 18 |
|
Holoprosencephaly, Bilateral single transverse palmar creases, Spina bifida, Esophageal atresia, ... |
ORPHA:3380 |
| Lissencephaly 8 |
|
Occipital encephalocele, Retrocerebellar cyst, Hypoplasia of the brainstem, Talipes equinovarus, ... |
OMIM:617255 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Molar tooth sign on MRI, Sh... |
OMIM:616300 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, Brachycephaly, High palate, ... |
OMIM:234100 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Cerebellar hypoplasia, Microphth... |
OMIM:218670 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Conical tooth, Abnormality of the ... |
ORPHA:228390 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa... |
ORPHA:139471 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Encephalocele, Polydactyly, Dandy-Walker malformation |
OMIM:614465 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Cerebellar vermis hypoplasia, Edema of the dorsum of hands, Brachyce... |
OMIM:274000 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia, Dandy-Walker malform... |
ORPHA:217 |
| Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Epiphyseal dysplasia, Tapered finger, Lymphedema, Clinodactyly, Flattened epiphy... |
OMIM:607131 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, High palate, Brachycephaly, Narrow mouth |
ORPHA:2528 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short th... |
OMIM:600325 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Polyhydramnios, Abnormal occipital bone morphology... |
ORPHA:63259 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brainstem dysplasia, Postaxial han... |
OMIM:608091 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Anal atresia |
ORPHA:2345 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f... |
OMIM:601349 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Tibial bowing, Lobulated tongue, High palate, Molar tooth sign on M... |
OMIM:277170 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Hypoplasia of the pons, Talipes equinovarus, Cerebellar hypoplasia, Microphth... |
OMIM:616171 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Macroglossia, Hypoplasia of the brainstem, Cerebella... |
OMIM:613155 |
| Trisomy 20P |
|
Frontal bossing, Finger syndactyly, Camptodactyly of finger, Spina bifida, Abnormality of the den... |
ORPHA:261318 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax... |
ORPHA:380 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Cleft upper lip, H... |
OMIM:607597 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Polyhydramnios, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalu... |
ORPHA:3412 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Cereb... |
OMIM:615181 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Triceps aplasia, Patella... |
OMIM:161200 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Cerebellar hypoplasia, Ab... |
ORPHA:899 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Joubert Syndrome 7 |
|
Encephalocele, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgu... |
OMIM:611560 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Chiari malform... |
OMIM:207950 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Abnormal dental morph... |
ORPHA:2092 |
| Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... |
OMIM:601707 |
| Carpenter Syndrome |
|
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... |
ORPHA:65759 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxi... |
OMIM:175700 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Temtamy Syndrome |
|
Brachydactyly, Short toe, Thick lower lip vermilion, Dolichocephaly, Clinodactyly of the 5th fing... |
ORPHA:1777 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... |
OMIM:147250 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Micromelia, Polyhydramnios, Spina bifida, Submucous cleft hard palat... |
ORPHA:2671 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th... |
ORPHA:93267 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper li... |
OMIM:612530 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormality of the dentition, Clinodactyly, Split hand, Abnormal pelvi... |
OMIM:157900 |
| Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft ... |
OMIM:109400 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Diabetic Embryopathy |
|
Frontal bossing, Hydrocephalus, Cleft palate, Spinal dysraphism, Aplasia/Hypoplasia of the cerebe... |
ORPHA:1926 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy... |
OMIM:225280 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphysea... |
OMIM:300863 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Monosomy 18P |
|
Lymphedema, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth, Short philtr... |
ORPHA:1598 |
| Joubert Syndrome 37 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Postaxial polydactyly, High palate, Molar tooth si... |
OMIM:619185 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Brachycephaly, ... |
OMIM:619148 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Clinodactyly of the 5th fi... |
ORPHA:376 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic ... |
OMIM:616546 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Polyhydramnios, Calcaneovalgus deformity, Dandy-Walker malformation, Fin... |
OMIM:256520 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia |
OMIM:614830 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... |
ORPHA:1120 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Coxa valga, Slender finger, Abnormality of the elbow, Brachycephaly, Cleft palat... |
ORPHA:163649 |
| Caudal Duplication |
|
Myelomeningocele, Intestinal duplication, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Optic ne... |
ORPHA:370959 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Craniosynostosis, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, ... |
OMIM:251230 |
| Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Polyhydramnios, Orofacial cleft, F... |
ORPHA:1692 |
| Joubert Syndrome 32 |
|
Frontal bossing, Abnormal cerebellum morphology, Postaxial hand polydactyly, Postaxial foot polyd... |
OMIM:617757 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem... |
OMIM:613153 |
| Cofs Syndrome |
|
Camptodactyly of finger, Everted lower lip vermilion, Aplasia/Hypoplasia of the cerebellum, Micro... |
ORPHA:1466 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Microphthalmia, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia |
OMIM:615771 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... |
ORPHA:220497 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her... |
ORPHA:2538 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Micro... |
ORPHA:261272 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Oligoh... |
OMIM:236500 |
| Cranioectodermal Dysplasia |
|
Frontal bossing, Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology,... |
ORPHA:1515 |
| Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Pat... |
OMIM:114290 |
| Alkuraya-Kucinskas Syndrome |
|
Cerebellar dysplasia, Overlapping toe, Edema, Pericardial effusion, Hydrocephalus, Cutaneous synd... |
OMIM:617822 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Camptodactyly of finger, Craniosynostosis, Abnormality of the hand, Metatarsu... |
ORPHA:356961 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology, Polyhydramnios, Supernumerary tooth, Abnormality of ... |
ORPHA:314621 |
| Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Cloverleaf skull, Dental crowding, Broad hallux, Shortening of all... |
OMIM:101600 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Elongated super... |
OMIM:213300 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Holoprosencephaly |
|
Anophthalmia, Flat occiput, Deep philtrum, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellu... |
ORPHA:2162 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Preaxial... |
ORPHA:564 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... |
ORPHA:220493 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly, Microphthalmia, Smooth philtrum |
OMIM:602501 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Polyhydramnios, Narrow mouth, Microphthalmia, Anal atresia |
ORPHA:3469 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Hamartoma of to... |
ORPHA:2754 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Craniosynostosis, Thick lower lip vermilion, Hip dislocation, Cutis la... |
OMIM:619451 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly |
OMIM:610023 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Frontal bossing, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Plagioceph... |
ORPHA:1101 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Difficulty in tongue movements, Pallor |
OMIM:606353 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormally large globe, Widely-spaced maxillary central incisors, Oligo... |
ORPHA:363417 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap... |
OMIM:602849 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cleft p... |
ORPHA:85284 |
| Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... |
ORPHA:894 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Postaxial hand polydactyly, Agenesis of in... |
OMIM:610829 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
| Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Tapered finger, High, narrow palate, Elbow flexion contracture, Con... |
ORPHA:536516 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Hypoplasia of the pons, Brachyce... |
OMIM:618736 |
| Fanconi Anemia |
|
Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Fing... |
ORPHA:84 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Cleft p... |
ORPHA:2145 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Cloverleaf skull, Toe syndactyly, Intestinal malrotation... |
ORPHA:93259 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly place... |
OMIM:305600 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Charlie M Syndrome |
|
Finger syndactyly, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilion border, Shor... |
ORPHA:1406 |
| Craniofrontonasal Dysplasia |
|
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Cr... |
ORPHA:1520 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Polyhydramnios, Symphalangism affecting the phalanges o... |
ORPHA:2547 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Cerebellar vermis hypoplasia, Proximal femoral meta... |
ORPHA:397715 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrocephalus, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
| Summitt Syndrome |
|
Syndactyly, Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Bilateral cleft lip and pal... |
OMIM:619339 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Triploidy |
|
Finger syndactyly, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Meningocele, Hy... |
ORPHA:3376 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Clinoda... |
ORPHA:1393 |
| Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... |
ORPHA:2369 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... |
ORPHA:77298 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... |
OMIM:119580 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Cleft palate, Tooth agenesis, High palate, Microphthalmia, Midface retrusion |
ORPHA:1135 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan... |
DECIPHER:46 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Hand polydacty... |
ORPHA:2318 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Molar tooth sign on MRI, Dandy-Walker malformation, Sy... |
OMIM:249000 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Clinodactyly, Bilateral microphthalmos, Brachycephaly, Plagi... |
ORPHA:369891 |
| Marden-Walker Syndrome |
|
Dandy-Walker malformation, Arachnodactyly, High, narrow palate, Pyloric stenosis, Cleft palate, R... |
OMIM:248700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Postaxial hand polydactyly, Molar tooth sign on MRI, Superior cerebellar dysp... |
OMIM:617622 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Chiari malformation,... |
OMIM:609053 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Microdontia, Synda... |
OMIM:614091 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Overlapping toe, Thin vermilion border, Cerebellar hypoplasia, Narr... |
OMIM:600118 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, Brachycep... |
ORPHA:404440 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... |
ORPHA:3265 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cerebellar atrophy, Rocker bottom foot, Coxa valga, Carious teeth, Elb... |
OMIM:214150 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cup... |
OMIM:619306 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
| Congenital Heart Block |
|
Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth retardation,... |
ORPHA:60041 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Broad hallux phalanx, Finger syndactyly, Flat occiput, Preaxial hand polydactyly, ... |
ORPHA:2211 |
| Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Hypoplasia of the brainstem, Holoprosencephaly, Parietal ... |
OMIM:610828 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Tethered cord, Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Chiari typ... |
OMIM:617244 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Cerebellar vermis hypoplasia, Hig... |
OMIM:618494 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Retrocerebellar cyst, Absent distal phalanges, Sh... |
OMIM:614219 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly |
OMIM:619981 |
| Ring Chromosome 10 Syndrome |
|
Frontal bossing, Aganglionic megacolon, Sandal gap, Tapered finger, Thin vermilion border, Long p... |
ORPHA:1438 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Brachycephaly, High palate, Clinodactyly of the 5t... |
OMIM:607932 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida |
ORPHA:99742 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Single transverse pa... |
OMIM:614701 |
| White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Dolichocephaly, Clinodactyly of the 5th finger, Spina bifida oc... |
ORPHA:2475 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Chiari type I malformatio... |
OMIM:101200 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Brachycephaly, Downturned c... |
ORPHA:264200 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent... |
ORPHA:974 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Toe syndactyly, Micromelia, Postaxial hand polydactyly... |
OMIM:241800 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb... |
ORPHA:1553 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Chiari malformation, Abnormal metaca... |
ORPHA:93262 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Con... |
OMIM:613451 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Redundant skin, Hydrocephalus, Clinodactyly, Abnormal palate morphology |
ORPHA:251046 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger |
OMIM:618725 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Brachycephaly, Tibial bowing, Short palm, Rhizomelia, G... |
ORPHA:175 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
| Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Polyhydramnios, Preaxial polydactyly, Tibial bowing,... |
OMIM:612651 |
| Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Hip dysplasia, Cerebellar hypo... |
OMIM:611961 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Frontal bossing, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the d... |
ORPHA:2994 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Hydrocephalus, Partial absence of cerebellar vermis, Cleft palate... |
OMIM:613150 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... |
ORPHA:63260 |
| Achondrogenesis, Type Ii |
|
Frontal bossing, Broad long bones, Edema, Abnormally large globe, Short tubular bones of the hand... |
OMIM:200610 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Hydrocephalus, Ascites, Intrauterine growth retardation |
ORPHA:858 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... |
ORPHA:90322 |
| Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Polyhydramnios, Cleft lip, High, narrow pa... |
OMIM:616920 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Turricephaly, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Hydrocephal... |
ORPHA:171839 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, Short p... |
ORPHA:3210 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly... |
OMIM:618577 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Orofacial cleft, Intrauterine growth retardation, High palate, Camptodactyly,... |
OMIM:618804 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... |
OMIM:304120 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Broad long bones, Dental crowding, Fifth finger dista... |
OMIM:257850 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t... |
ORPHA:90650 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Jacobsen Syndrome |
|
Frontal bossing, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation,... |
ORPHA:2308 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Alg3-Cdg |
|
Hypoplasia of the pons, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia... |
ORPHA:79321 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Broad hallux, Optic nerve hypoplasia, Abnormality of the hand, Overlapp... |
ORPHA:508498 |
| Filippi Syndrome |
|
Cerebellar atrophy, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Fi... |
OMIM:272440 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Brachycephaly, High... |
ORPHA:3103 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... |
OMIM:216360 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... |
ORPHA:370010 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Turricephaly, Dandy-Walker malformation, Craniosynostosis, Parietal foramina,... |
OMIM:616602 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Encephalocele |
OMIM:612285 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Exaggerated cupid's bow, Single transverse palmar crease, Cleft lip, Deep philtr... |
OMIM:620098 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal... |
OMIM:300166 |
| Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Pallor |
ORPHA:517 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia |
OMIM:619111 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Non-midline cleft lip, Brachycephaly, Cleft palate, Microphthalmia, Midface retrusion |
ORPHA:1791 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Cleft ... |
ORPHA:251038 |
| Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Anophthalmia... |
OMIM:219000 |
| Monosomy 5P |
|
Finger syndactyly, Intrauterine growth retardation, High palate, Small hand |
ORPHA:281 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Sirenomelia |
|
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia |
ORPHA:3169 |
| Seckel Syndrome 2 |
|
Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
| Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Abnormal midbrain morphology, Tapered finger, Hypoplasia of the ... |
ORPHA:444072 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Carious teeth, Talon cusp, Dental malocclusion,... |
OMIM:613684 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Brachycephaly |
ORPHA:1514 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| 2Q31.1 Microdeletion Syndrome |
|
Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, Clinodactyly o... |
ORPHA:251014 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Brachycephaly, High palate, Clinodactyly of th... |
OMIM:201000 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Widely spaced teeth, Camptodactyly, Microdontia, Micropht... |
OMIM:619694 |
| Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C... |
ORPHA:391474 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of t... |
ORPHA:3152 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Trigonocephaly, Microphthalmia |
OMIM:614583 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo... |
ORPHA:1825 |
| Bohring-Opitz Syndrome |
|
Polyhydramnios, Hypoplasia of the brainstem, Dandy-Walker malformation, Dislocated radial head, S... |
OMIM:605039 |
| Tetraploidy |
|
Radial club hand, Cleft palate, Chiari malformation, Short philtrum, Biparietal narrowing, Intrau... |
ORPHA:3305 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Hip dis... |
OMIM:610758 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Polyhydramnios, High, narrow palate, High palat... |
OMIM:180849 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Anal stenosis, Anophthalmia, Dental crowding, Toe syndactyly, C... |
ORPHA:2052 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Ankyloglo... |
OMIM:602361 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Fused teeth, High palate, Finger syndactyly, Ma... |
ORPHA:93932 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Palmoplantar... |
ORPHA:2251 |
| 22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Spina bifida, ... |
ORPHA:567 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Turricephaly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bo... |
OMIM:272950 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia, Anal atresia, Intrauterine growth retardation |
ORPHA:195 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Finger syndactyly, Single transverse palmar crease, Campto... |
ORPHA:915 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Brachycephaly, Coxa vara, Glossoptosis, Hypoplastic inferior ilia, Clinodact... |
ORPHA:1452 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyl... |
ORPHA:250989 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Frontal bossing, Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Small pla... |
ORPHA:397590 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Spina ... |
OMIM:304050 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hydrocephalus, Brachycephaly, Cleft palate, Prominent occiput, Intrauterine growth re... |
OMIM:220210 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Redundant skin, Deep philtrum, Large hand... |
ORPHA:3447 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Postaxial polydactyly, Joint contracture o... |
OMIM:619562 |
| Atelosteogenesis Type Ii |
|
Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... |
ORPHA:56304 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Frontal bossing, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of m... |
OMIM:618571 |
| Temtamy Syndrome |
|
Frontal bossing, Dental crowding, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes eq... |
OMIM:218340 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Tethered cord, Exaggerated cupid's bow, Spina bifida, Tapered finger, Narrow mou... |
OMIM:619480 |
| Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Polyhydramnios, Cl... |
ORPHA:138 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, High, narrow palate, Supernumerary tooth, Small hand, Oligodontia, Unilateral ... |
ORPHA:1787 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, High ... |
OMIM:614105 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly, Abnormality of the dentition |
OMIM:615982 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Brachydactyly, Hip subluxation, Spinal cord compression, Squared iliac bones, F... |
OMIM:618853 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, A... |
ORPHA:59315 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Abnormal cerebellum morphology, Downturned corners of mouth, Microphthalmia,... |
OMIM:618652 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... |
OMIM:305450 |
| Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro... |
ORPHA:1942 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Oligodontia, Cleft soft palate, Gingival overgrowth, Mesomelia, Umbilical hernia... |
OMIM:616331 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Pallor |
OMIM:615631 |
| Cloacal Exstrophy |
|
Intestinal malrotation, Spina bifida, Abnormal tibia morphology, Myelomeningocele, Hip dislocatio... |
ORPHA:93929 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Abno... |
ORPHA:163961 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Martsolf Syndrome 1 |
|
Short palm, Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, ... |
OMIM:212720 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degenerati... |
ORPHA:77299 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Duplication of phalanx of hallux, Orofacial cleft, Wid... |
OMIM:243310 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Hypoplasia of the brainstem, Elongated supe... |
OMIM:615636 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Cranial hyperostosis, Spinal dysraphism |
OMIM:612918 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia... |
OMIM:113000 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Parietal foramina, Preaxial p... |
OMIM:603671 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... |
OMIM:607323 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Muenke Syndrome |
|
Tarsal synostosis, High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Cone-shaped ... |
ORPHA:53271 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Frontal bossing, Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology... |
ORPHA:2788 |
| Apert Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Aplasia/Hypoplasia of the thumb, Cloverleaf skull, Fi... |
ORPHA:87 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Flat occiput, Hiatus hernia, Slender finger, Hypoplasia of the iris, Wide mou... |
OMIM:251300 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormally large glo... |
OMIM:239300 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Po... |
OMIM:264480 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Brachycephaly, Cutis laxa, Microphthalmia, Dry skin |
OMIM:612379 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical hernia, Joint con... |
OMIM:618914 |
| Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Frontal bossing, Arachnodactyly, Edema, Hiatus hernia, Hip dislocation, High ... |
OMIM:617729 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Frontal bossing, Finger syndactyly, Toe syndactyly, Hydrocephalus, Wide mouth, Hand polydactyly, ... |
ORPHA:60040 |
| Kury-Isidor Syndrome |
|
Frontal bossing, Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal plac... |
OMIM:619762 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe, Midface retrusion |
OMIM:612581 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Cleft palate, Everted lower lip ... |
OMIM:619736 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Hypomelanosis Of Ito |
|
Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati... |
OMIM:300337 |
| Cohen Syndrome |
|
Finger syndactyly, Macrodontia, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of ... |
ORPHA:193 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Cerebellar vermis atrophy, Brachycephaly, Cleft palate, High palate, Narrow mouth, ... |
OMIM:156610 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Skin ulcer, Thick vermilion border, Scaling skin, Chylothorax, L... |
ORPHA:2526 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Redundant neck skin, Single transverse palmar crease, Polyhydramnios,... |
ORPHA:96334 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Orofacial cleft, Hypoplastic iris stroma, Smooth philtrum |
OMIM:193500 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... |
ORPHA:2780 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly, Cleft palate |
OMIM:613456 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the brainste... |
OMIM:614643 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, Hydrocephalus,... |
ORPHA:2166 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail... |
OMIM:269250 |
| Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp... |
ORPHA:1897 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thin upper lip vermilion, Flat occiput, Lymphedema, Deep philtrum, Thick lower lip vermilion, Lon... |
OMIM:152950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Microp... |
OMIM:615249 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr... |
OMIM:224400 |
| Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth, S... |
ORPHA:1786 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in... |
ORPHA:88630 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Widely-spaced incisors |
OMIM:300915 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Hemiatrophy, Lymphedema |
ORPHA:2874 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Joubert Syndrome 3 |
|
Molar tooth sign on MRI, Open mouth, Cerebellar vermis hypoplasia, Elongated superior cerebellar ... |
OMIM:608629 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Biparietal narrowing, Microdontia,... |
ORPHA:1915 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Hydroceph... |
OMIM:236670 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation |
ORPHA:48431 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Cerebellar vermis hypoplasia, Broad hallux, Hamartoma of to... |
OMIM:615948 |
| Joubert Syndrome 35 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Si... |
OMIM:618161 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Redundant neck skin, Broad hallux, Brachycephaly, Hand polydactyly, High palate, Broa... |
OMIM:239710 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Meningocele, Brachycephaly, Patellar hypoplasia, Wide mouth, Ret... |
ORPHA:1827 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... |
ORPHA:2250 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polyhydramnios, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, ... |
OMIM:225790 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Fanconi Anemia, Complementation Group S |
|
Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Microphthalmia, Cli... |
OMIM:617883 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Cleft palate, Clubbing of toes... |
ORPHA:1318 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Scaphocephaly, Small hand... |
ORPHA:459061 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... |
OMIM:608670 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Frontal bossing, Thin upper lip vermilion, Small hand, Short foot, Thin vermilion bor... |
OMIM:241410 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap, Long philtrum |
OMIM:300887 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Brachycephaly, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Abno... |
OMIM:268850 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... |
OMIM:618727 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Microphthalmia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Hypoplasia of the brainstem, Everted lower ... |
OMIM:253280 |
| Mend Syndrome |
|
Overlapping fingers, Broad hallux, Overlapping toe, Asymmetry of the mouth, Long fingers, Hydroce... |
ORPHA:401973 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Kapur-Toriello Syndrome |
|
Overlapping fingers, Single transverse palmar crease, Intestinal malrotation, Cleft upper lip, Ca... |
OMIM:244300 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Turricephaly, Brachydactyly, Symphalangism affecting the phalanges of the hand... |
ORPHA:710 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Plagiocephaly, Slender long bone, Decr... |
OMIM:618265 |
| Diamond-Blackfan Anemia 1 |
|
Cleft upper lip, Parietal foramina, Short thumb, Absent thumb, Hypoplastic ilia, Partial duplicat... |
OMIM:105650 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Dolichocephaly, Hypoplastic ilia, Postaxial polydactyly, Hypoplasia of th... |
OMIM:617895 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Syndactyly, Lymphedema, Narrow mouth, Camptodactyly, Intestinal lymphangiect... |
OMIM:616006 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Encephal... |
ORPHA:90652 |
| Leishmaniasis |
|
Pallor, Abnormal oral mucosa morphology, Skin ulcer, Abnormal oral cavity morphology |
ORPHA:507 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... |
ORPHA:2879 |
| Pallister-Hall Syndrome |
|
Anteriorly placed anus, Holoprosencephaly, Distal shortening of limbs, Syndactyly, Mesoaxial foot... |
OMIM:146510 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Frontal bossing, Trident pelvis, Short humerus, Short lingual frenulum, Bowed humerus, Short long... |
OMIM:619479 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ... |
OMIM:615777 |
| Cenani-Lenz Syndrome |
|
Frontal bossing, Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental ename... |
ORPHA:3258 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ... |
OMIM:607361 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Arachnodactyly, Long palm, Tapered finger, Camptodact... |
ORPHA:2215 |
| Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft p... |
ORPHA:1784 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Abnorma... |
ORPHA:79139 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Dolichocephaly, Long fingers, Incre... |
ORPHA:357001 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Pyloric stenosis, Hydrocephalus, Brachycephaly, Chiari type I malformation, Abno... |
OMIM:218350 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Brachydactyly, Narrow philtrum, Palmoplantar hyperker... |
OMIM:601812 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Flat occiput, Polyhydramnios, Long finger... |
OMIM:617746 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Absent mesenc... |
OMIM:601374 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Single transverse palmar ... |
ORPHA:464738 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:251270 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Edema, Upper limb asymmetry, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia |
ORPHA:2505 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormally large globe, Brachycephaly, Shoulder dislocation, Microdontia, Dislocated radial head,... |
OMIM:245600 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Tapered finger, Hypoplasia of the pons, Dental malocclusion, Sho... |
OMIM:616202 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cleft palate, Pallor, Cerebellar malformation, Microphthalmia, Congenital aphakia,... |
ORPHA:137675 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... |
ORPHA:54028 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal calvaria morphology, Bipariet... |
ORPHA:1323 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty... |
OMIM:300963 |
| Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim... |
ORPHA:90321 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Tethered cord, Bifid uvula, Spinal dysraphism |
OMIM:617660 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Aplasia/Hypoplasia... |
ORPHA:254346 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Cleft palate... |
OMIM:258860 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hy... |
OMIM:243605 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto... |
ORPHA:1788 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Camptodactyly of finger, Meningocele, Cleft palate, Prominent occiput, Long ph... |
ORPHA:2311 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Hydroce... |
ORPHA:77301 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia |
OMIM:308350 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ... |
OMIM:302960 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Tethered cord, Spina bifida, Absent radius, Esophageal atres... |
OMIM:192350 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Talipes cavus equinovarus, Myelomeningocele, Penetrating fo... |
ORPHA:573278 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Bilateral microphthalmos, Thick lower lip vermilion, ... |
ORPHA:2563 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Poly... |
ORPHA:2059 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of taste sensation, Abnormal medulla oblongata morphology, Abnormal midbrain morpholo... |
ORPHA:68 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Brachycephaly, Hand polydactyly, B... |
ORPHA:2377 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly |
ORPHA:1445 |
| Achondroplasia |
|
Frontal bossing, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Polyhydramnios, Bowing of... |
OMIM:100800 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, High palate, Pallor |
OMIM:600462 |
| Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
| Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Ulnar bowing, Sho... |
OMIM:619135 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, ... |
OMIM:218600 |
| 3C Syndrome |
|
Frontal bossing, Finger syndactyly, Intestinal malrotation, High, narrow palate, Hydrocephalus, O... |
ORPHA:7 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Frontal bossing, Finger syndactyly, Hypoplasia of the ulna, Polyhydramnios, Aplasia/Hypoplasia of... |
ORPHA:2256 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachycephaly,... |
OMIM:614800 |
| American Trypanosomiasis |
|
Periorbital edema, Aganglionic megacolon, Pallor, Edema |
ORPHA:3386 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
| Schizophrenia 1 |
|
Frontal bossing, Flat occiput, Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Redundant skin, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long phil... |
ORPHA:1252 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Orofacial cleft, Aplasia/Hypoplasia involvi... |
ORPHA:3301 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Agenesis of cerebellar vermis, Single transverse palmar crease, Proximal placement ... |
OMIM:113620 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, ... |
ORPHA:1752 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Oculodentodigital Dysplasia |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the cerebellum, Finger syndactyly, Abnormal... |
ORPHA:2710 |
| Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Branchial fistula, Abnormal dental morphology, Abnormal dental en... |
ORPHA:861 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia, Micropht... |
OMIM:201180 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition... |
ORPHA:284160 |
| Atelosteogenesis, Type I |
|
Polyhydramnios, Short metatarsal, Tibial bowing, Encephalocele, Short metacarpal, Radial bowing, ... |
OMIM:108720 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Frontal bossing, Aplasia/Hypoplasia of the cerebellum, Stomach cancer, Poly... |
ORPHA:1052 |
| 2Q37 Microdeletion Syndrome |
|
Frontal bossing, Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Pyloric sten... |
ORPHA:1001 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Brachycephaly, Hypodontia, Mic... |
ORPHA:1236 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... |
ORPHA:1507 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cubitus valgus, Clinodactyly, 4-5 finge... |
OMIM:164200 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow... |
ORPHA:290 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Cerebellar hypoplasia, Pallor |
OMIM:613839 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Redundant skin, High, narrow palate, Brachycephaly, Anteriorly plac... |
OMIM:612289 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Re... |
OMIM:600145 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal... |
ORPHA:35173 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... |
ORPHA:2751 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Abnormal dental morphology, Arachnodactyly,... |
ORPHA:363958 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Proboscis, Agenesis of canine, Orofacial cleft, High palate... |
ORPHA:141099 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper... |
OMIM:305400 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, L... |
ORPHA:137634 |
| Fumarase Deficiency |
|
Frontal bossing, Necrotizing enterocolitis, Polyhydramnios, Hypoplasia of the brainstem, High pal... |
OMIM:606812 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema |
ORPHA:3226 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing... |
ORPHA:2980 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad hallux, Sandal gap, Short 2nd finger,... |
OMIM:600987 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate, Single transverse palmar crease, Oligohydramnios |
OMIM:619053 |
| Kbg Syndrome |
|
Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Cleft palate, Cutaneous s... |
ORPHA:2332 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth,... |
OMIM:614230 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation |
OMIM:610756 |
| Silver-Russell Syndrome 1 |
|
Frontal bossing, Syndactyly, Short distal phalanx of the 5th finger, Downturned corners of mouth,... |
OMIM:180860 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
| Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Overlapping toe, Single transverse palmar crease, Deep... |
OMIM:613884 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
| Hamamy Syndrome |
|
Long toe, Thin upper lip vermilion, Syndactyly, Down-sloping shoulders, Craniosynostosis, Tapered... |
OMIM:611174 |
| Trichothiodystrophy 3, Photosensitive |
|
Eclabion, Natal tooth, Carious teeth, Pyloric stenosis, Trigonocephaly, Microphthalmia, Meckel di... |
OMIM:616395 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... |
ORPHA:3429 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Frontal bossing, Hyperextensibility of the finger joints, Syndactyly, Abnormality of the dentitio... |
OMIM:151050 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Accessory o... |
ORPHA:434179 |
| Craniosynostosis And Dental Anomalies |
|
Flat occiput, Dental crowding, Brachycephaly, Coronal craniosynostosis, High palate, Short phalan... |
OMIM:614188 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Dolichocephaly |
OMIM:167730 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Short finger |
OMIM:300049 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Dandy-Walker malformation, Finger ... |
ORPHA:2750 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Aganglionic megacolon, Optic dis... |
ORPHA:959 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Narrow mouth, Brachycephaly, Long philtrum, Microphthalmia |
OMIM:615663 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu... |
OMIM:616449 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Orofacial cleft, Bifid uvula, Cranium bifidum occultum, Microphth... |
OMIM:229400 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydro... |
OMIM:207410 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Long thumb, Hip dysplas... |
OMIM:300895 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
| Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
| Myhre Syndrome |
|
Short philtrum, Hypoplastic iliac wing, Pericardial effusion, Cleft lip, Short toe, 2-3 toe synda... |
OMIM:139210 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Clinodactyly, Syndactyly, Arachnodactyly, Widely spaced teeth |
OMIM:619092 |
| Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Hand monodactyly, Holoprosencephal... |
OMIM:214800 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl... |
OMIM:609128 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microdontia, Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Postaxial polydactyly... |
OMIM:617925 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
| Degcags Syndrome |
|
Polyhydramnios, High palate, Pallor, Syndactyly, Hiatus hernia, Short thumb, Thick vermilion bord... |
OMIM:619488 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Abnormal finger morphology, Brachycephaly, Downturned cor... |
ORPHA:79500 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Warburg Micro Syndrome 3 |
|
Brachycephaly, Narrow palate, Downturned corners of mouth, Clinodactyly of the 5th finger, Microp... |
OMIM:614222 |
| Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Cerebellar vermis hypoplasia, Hip dysplasia, Microphthalmia, Intrauterine growth... |
ORPHA:494344 |
| Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele |
OMIM:612291 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Hypoplasia of the brainstem, Holoprosencephaly, Cerebellar hypoplas... |
OMIM:253800 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio... |
OMIM:605432 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Redundant skin, High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phal... |
ORPHA:2658 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Cerebellar hypopla... |
ORPHA:3224 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Molar tooth sign on MRI, Hamartoma of tongue |
OMIM:617563 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Overlapping ... |
OMIM:618316 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
| Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, M... |
OMIM:206900 |
| Lumbar Syndrome |
|
Myelomeningocele, Ectopic anus, Spina bifida, Anal atresia |
ORPHA:83628 |
| Blepharocheilodontic Syndrome 2 |
|
Tooth agenesis, Cleft lip, Cutaneous syndactyly, Conical tooth |
OMIM:617681 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Holoprosencephaly, Cli... |
ORPHA:2163 |
| Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Hypoplasia of the ulna, Syndactyly, Broad hallux, Hypoplasia o... |
OMIM:212780 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... |
OMIM:302350 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:613730 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdon... |
ORPHA:2728 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
| Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Holoprosenceph... |
OMIM:184705 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Polyhydramnios, Preaxial hand polydactyly, Non-midlin... |
ORPHA:887 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Syndactyly, Cleft lip, Clinodactyly, Dental malocclusion, Gingival overgrowth, C... |
OMIM:616894 |
| Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malfo... |
ORPHA:268810 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Pierre-Robin sequence, Cleft palate... |
OMIM:217980 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft ... |
OMIM:614083 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preaxial hand polyda... |
OMIM:227646 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Finger syndactyly, Dental crowding, Single transverse p... |
ORPHA:435938 |
| Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum |
OMIM:162200 |
| Pili Torti-Onychodysplasia Syndrome |
|
Cleft lip, Cleft palate, Cutaneous syndactyly, Palmoplantar keratoderma, Dry skin |
ORPHA:2890 |
| Filippi Syndrome |
|
Frontal bossing, Enlarged epiphyses, Finger syndactyly, Thin vermilion border, Short philtrum, Cl... |
ORPHA:3255 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Hydrocephalus, Abnormal brainstem morphology, High palate, Abnormal hip bone morp... |
ORPHA:2720 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal dental enamel morphology, Hydrocephalus, Erythema, Abnormal rectum morphol... |
ORPHA:2556 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Thick lower l... |
OMIM:123450 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cleft palate, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, C... |
ORPHA:306542 |
| Refsum Disease |
|
Short metacarpal, Hammertoe, Abnormal epiphysis morphology, Microphthalmia, Dry skin |
ORPHA:773 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Polyhydramnios, Biparietal narrowing, Holoprosencephaly, Advanced er... |
ORPHA:818 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary to... |
ORPHA:2108 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, 2-5 finger syndactyly, Optic nerve hypoplasia, Craniosynostosis, Abnormal occ... |
ORPHA:468631 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Tapered finger, Orofacial cleft, High palate, Shor... |
ORPHA:65286 |
| Waldenström Macroglobulinemia |
|
Malabsorption, Periorbital edema, Pedal edema, Pallor, Gingival bleeding, Pleural effusion, Purpura |
ORPHA:33226 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Holoprosencep... |
ORPHA:1587 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Cerebellar hypoplasia |
OMIM:618805 |
| Dominant Beta-Thalassemia |
|
Frontal bossing, Bowing of the long bones, Abnormality of the dentition, Skin ulcer, Genu valgum,... |
ORPHA:231226 |
| Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
| Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Microdontia, Synd... |
OMIM:613610 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Anal atresia |
ORPHA:1997 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Calvarial skull defect, Brachydactyly |
OMIM:616589 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... |
OMIM:613091 |
| Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Hydrops fetalis, Foot polydactyly, Sho... |
ORPHA:268249 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Turricephaly, Brachydactyly, Abnormal dental enamel morphology, Abnormality of... |
ORPHA:1005 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Wide mouth, Thin vermilion border,... |
ORPHA:217346 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicat... |
OMIM:236680 |
| Jacobsen Syndrome |
|
Flat occiput, Pyloric stenosis, Hydrocephalus, Intrauterine growth retardation, Macular hypoplasi... |
OMIM:147791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Buphthalmos, Microphthalmia, Cerebellar cyst |
OMIM:616538 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tong... |
ORPHA:570 |
| Silver-Russell Syndrome 3 |
|
Frontal bossing, Syndactyly, Small hand, Clinodactyly of the 5th finger, Oligohydramnios |
OMIM:616489 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Erythema, Oligodontia, Hypodon... |
OMIM:308300 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short metacarpal, Cleft upper lip, S... |
OMIM:263650 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... |
OMIM:309800 |
| 20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Polyhydram... |
ORPHA:783 |
| Baller-Gerold Syndrome |
|
Frontal bossing, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasi... |
ORPHA:1225 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Striae distensae, Broad skull, Microspherophakia, Short metatarsal, Brachycepha... |
OMIM:608328 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Hydrops fetalis, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radia... |
OMIM:265000 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro... |
OMIM:154400 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Lymphedema |
ORPHA:79279 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum |
ORPHA:85194 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Syndactyly, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cleft lip, Fur... |
OMIM:616975 |
| Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Hydrocephalus, Hypoplasia of the brainstem, Intrauterine growth retardation, Clinodac... |
ORPHA:2169 |
| Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Frontal bossing, Syndactyly, Narrow joint spaces of the elbow, Dental crowding, High, narrow pala... |
ORPHA:96182 |
| Joubert Syndrome 38 |
|
Frontal bossing, Cerebellar vermis hypoplasia, Downturned corners of mouth, Molar tooth sign on M... |
OMIM:619476 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl... |
ORPHA:672 |
| Au-Kline Syndrome |
|
Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ... |
OMIM:616580 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Brachycephaly, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the ... |
OMIM:614225 |
| Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Micro... |
OMIM:603467 |
| Micro Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, High palate, Short philtrum, Microp... |
ORPHA:2510 |
| Raine Syndrome |
|
Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Long hallux, Hydrocephalus,... |
OMIM:259775 |
| Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Polyhydramnios, Cleft lip, Pyloric stenosis, Tracheoes... |
ORPHA:1199 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges o... |
ORPHA:1234 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Abnormality of the dentition, Broad palm, Wide mouth, Thick vermilion border, Dolicho... |
OMIM:618505 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ... |
OMIM:600901 |
| Frank-Ter Haar Syndrome |
|
Flat occiput, Redundant neck skin, Abnormally large globe, Brachycephaly, High palate, Short palm... |
OMIM:249420 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Pyloric stenosis, Enamel hypoplasia, Syndactyly |
OMIM:226700 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Polyhyd... |
OMIM:229850 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Microphthalmia... |
OMIM:100300 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Intestinal malrotation |
OMIM:601163 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormality of the hum... |
ORPHA:3186 |
| Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Flat occiput, Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Abnormal de... |
ORPHA:534 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Absent radius, Preaxial hand polydactyly,... |
ORPHA:233 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
| Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Prominent occiput, Plagiocephaly, Biparietal narrowing, Aplasia/Hypoplasia of th... |
ORPHA:2612 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Volvulus, Clubbing of fingers, Gingival bleeding |
ORPHA:335 |
| Beta-Thalassemia Major |
|
Frontal bossing, Bowing of the long bones, Abnormality of the dentition, Skin ulcer, Genu valgum,... |
ORPHA:231214 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormality of the tongue, Cleft palate, Orofacial cl... |
ORPHA:2990 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnorm... |
ORPHA:2907 |
| Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ... |
OMIM:227645 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... |
ORPHA:158687 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Buphthalmos, Abnormal pons morpholog... |
ORPHA:370997 |
| Sclerosteosis 1 |
|
Frontal bossing, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secondary t... |
OMIM:269500 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Cerebellar vermis atrophy |
OMIM:618087 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ... |
OMIM:227650 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Diamond-Blackfan Anemia |
|
Cleft soft palate, Nonimmune hydrops fetalis, Absent thumb, Cleft lip, Short thumb, Partial dupli... |
ORPHA:124 |
| Sepsis In Premature Infants |
|
Edema, Enterocolitis, Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Frontal bossing, Congenital hip dislocation, Short thumb, Supernumerar... |
OMIM:268400 |
| Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro... |
ORPHA:261112 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft upper lip, Clef... |
OMIM:153400 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Frontal bossing, Clinodactyly of the 5th finger |
OMIM:617306 |
| Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Premature loss of primary teeth, Craniosynos... |
ORPHA:667 |
| 47,Xyy Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Finger clinodactyly, Dysgenesis of the cerebellar v... |
ORPHA:8 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia, Intrauterine growth re... |
ORPHA:2714 |
| Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Syndactyly, Persistence of primary teeth, Mesomelic arm shorten... |
ORPHA:97360 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Single transverse palmar crease, Brachycephaly, Widely spaced teeth, High palate, Microdontia, Pr... |
OMIM:612474 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Non-midline cleft lip, Hypopl... |
ORPHA:246 |
| Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Brachycephaly, Tetraphocomelia, High palate, Phocomelia, Wrist flexion contractur... |
OMIM:268300 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou... |
ORPHA:3107 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Cleft upper lip, Partial duplication of thumb phalanx, Hyd... |
OMIM:164210 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,... |
OMIM:618874 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... |
OMIM:609638 |
| Hereditary Folate Malabsorption |
|
Pallor, Glossitis, Cheilitis |
ORPHA:90045 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Intestinal pseudo-obstruction, Short palm, Int... |
ORPHA:73246 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| Myopathy, Mitochondrial, And Ataxia |
|
High palate, Pallor |
OMIM:617675 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos, Dolichocephaly |
ORPHA:2399 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... |
ORPHA:329971 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
| Prader-Willi Syndrome |
|
Short palm, Thin upper lip vermilion, Syndactyly, Polyhydramnios, Carious teeth, Acromicria, Smal... |
OMIM:176270 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia |
OMIM:619318 |
| Aicardi Syndrome |
|
Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Pl... |
ORPHA:50 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Split... |
ORPHA:2008 |
| Atelis Syndrome 2 |
|
Frontal bossing, Single transverse palmar crease, Diastema, Thick lower lip vermilion, Downturned... |
OMIM:620185 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Carious teeth, Velopharyn... |
OMIM:223370 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia, Cleft palat... |
OMIM:115470 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Cerebellar vermis hypoplasia, Intestinal malrotation, Hamartoma of tongue, Prea... |
OMIM:263520 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar cre... |
OMIM:620186 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Frontal bossing, Anal stenosis, Thin upper lip vermilion, Optic nerve hypoplasia, 2-3 toe cutaneo... |
OMIM:620029 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
| Ring Chromosome 7 Syndrome |
|
Single transverse palmar crease, Slender finger, Abnormal cerebellum morphology, Small hand, Brac... |
ORPHA:1449 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malfor... |
OMIM:613001 |
| Cockayne Syndrome B |
|
Cerebellar calcifications, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion,... |
OMIM:133540 |
| Beta-Thalassemia Intermedia |
|
Spinal cord compression, Pallor, Skin ulcer |
ORPHA:231222 |
| Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Accessory carpal bones, Cleft palate, Abnorma... |
ORPHA:503 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa v... |
OMIM:614976 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, High, narrow palate, Abnormality of the gingiva, Oro... |
ORPHA:2753 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Hydrocephalus, Anencephaly,... |
OMIM:612284 |
| Holoprosencephaly 2 |
|
Proboscis, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate,... |
OMIM:157170 |
| Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida |
ORPHA:991 |
| Yunis-Varon Syndrome |
|
Flat occiput, Congenital hip dislocation, Single transverse palmar crease, Redundant neck skin, P... |
OMIM:216340 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Syringomyelia, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
| Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Craniosynostosis, Cleft upper lip, Alobar holoprosencephaly, Cleft ... |
OMIM:615465 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Cerebellar atrophy, Syndactyly, Hypoplasia of the pons, Long philtrum, Smooth philtrum |
OMIM:616430 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi... |
ORPHA:2886 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Dental malocclusion, Brac... |
OMIM:227330 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Polyhydramnios, High, narrow palate, Short philtrum, High palate, Sh... |
OMIM:613406 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle... |
ORPHA:85199 |
| Kbg Syndrome |
|
Short palm, Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease,... |
OMIM:148050 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Edema, Dehydration |
ORPHA:20 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Frontal bossing, Finger syndactyly, Down-sloping shoulders, Open bite, Deep philtrum, Brachycepha... |
ORPHA:1974 |
| Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Coxa valga, Supernu... |
OMIM:620099 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Syndactyly, Cerebellar vermis hypoplasia, Lymphedema, Anterio... |
ORPHA:314679 |
| Mosaic Trisomy 16 |
|
Syndactyly, Single transverse palmar crease, Short thumb, Clinodactyly, Large placenta, Anteriorl... |
ORPHA:1708 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosis, Abnormality of the d... |
ORPHA:1299 |
| Holoprosencephaly 1 |
|
Proboscis, Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Midface... |
OMIM:236100 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Wide mouth, Thick vermilion bo... |
ORPHA:1517 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Gingival bleeding |
ORPHA:98870 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Polyhydramnios |
OMIM:263630 |
| Letterer-Siwe Disease |
|
Stomatitis, Pallor |
OMIM:246400 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Cleft palate, Talipes... |
ORPHA:1512 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Skin ulcer, Abnormality of the dentition |
ORPHA:1806 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos |
OMIM:615085 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor, Glossitis, Angular cheilitis |
ORPHA:35858 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Olivopontocerebellar hypoplasia, Hyd... |
ORPHA:457284 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, M... |
OMIM:263750 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration o... |
OMIM:610168 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Hydrocephalus, Umbilical hernia, High palate, Cubitus valgus |
OMIM:104350 |
| Idiopathic Hypereosinophilic Syndrome |
|
Swelling of proximal interphalangeal joints, Malabsorption, Angioedema, Clubbing, Joint swelling,... |
ORPHA:3260 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... |
ORPHA:2136 |
| Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Umbilical hernia, High palate |
OMIM:614520 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Pallor, Steatorrhea |
OMIM:557000 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... |
OMIM:615503 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
| X Small Rings |
|
Thin upper lip vermilion, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergro... |
ORPHA:96201 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Alternating Hemiplegia Of Childhood |
|
Downturned corners of mouth, Exaggerated cupid's bow, Pallor, Dehydration |
ORPHA:2131 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Tapered finger, Scaphocephaly, Small hand, Hip dysplasia, Thic... |
OMIM:620005 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palm, Thin upper lip vermilion, Tapered finger, Carious teeth, Long fingers, 2-3 toe syndac... |
OMIM:616734 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Microphthalmia, Anal ... |
OMIM:617666 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Chiari type I malformation, Sh... |
ORPHA:798 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Intestinal malrotation, Orofacial cleft |
ORPHA:2328 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Clubbing, Prominent occiput, Joint swelling, ... |
ORPHA:96123 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Pallor |
ORPHA:29072 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme... |
OMIM:261540 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly |
OMIM:149000 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Frontal bossing, Syndactyly, Brachydactyly, Proximal placement of thumb, Talipes equinovarus, Sho... |
OMIM:615789 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor, Pedal edema |
ORPHA:86839 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft ma... |
ORPHA:508488 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Non-midline cleft lip, Fibr... |
ORPHA:1300 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic... |
OMIM:601552 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Short lingual frenulum, Craniosynostosis, Unilateral brachydactyly, Plagiocephaly, Wi... |
ORPHA:1521 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Microphthalmia, Triangular mouth, Dry skin |
OMIM:601675 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate |
OMIM:257910 |
| Trichothiodystrophy |
|
Craniosynostosis, Carious teeth, High, narrow palate, Diffuse cerebellar atrophy, Bilateral micro... |
ORPHA:33364 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
| Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Macrodontia, Brachycephaly, Cleft palate, Camptodactyly, High palate, S... |
OMIM:309500 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Skin... |
ORPHA:978 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia, M... |
OMIM:603457 |
| Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... |
OMIM:612109 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Edema, Intestinal perforation, Pleural empyema, Pallor, Intussusception, Acute colitis, Generaliz... |
ORPHA:544482 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Frontal bossing, Thin upper lip vermilion, Toe clinodactyly, Sandal gap, Optic nerve hypoplasia, ... |
OMIM:620330 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Wilson Disease |
|
Edema, Esophageal varix, Pedal edema, Face of the giant panda sign, Ascites |
OMIM:277900 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Single transverse palmar crease, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colonic atr... |
OMIM:309801 |
| Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Cleft... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Cleft... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Cleft... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Proboscis, Hydrocephalus, Hip dislocation, Abnormal brainstem morphology, Cleft... |
ORPHA:220386 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd... |
ORPHA:373 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Umbilical hernia, Esophageal varix, Brachydactyly |
OMIM:616028 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Peptic ulcer |
ORPHA:98849 |
| Fraser Syndrome 3 |
|
Nonimmune hydrops fetalis, Short toe, Hydrocephalus, Cutaneous syndactyly, Ascites, Oligohydramnios |
OMIM:617667 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, N... |
ORPHA:1071 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Turricephaly, Abnormal dental enamel morphology, Premature loss of primary tee... |
ORPHA:2908 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... |
ORPHA:2473 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Orofacial cleft, Abnormality of the upper limb, Intrauterine g... |
ORPHA:1556 |
| Papillorenal Syndrome |
|
Chiari type I malformation, Microphthalmia, Edema |
OMIM:120330 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Symphalangism of the thumb, Clin... |
ORPHA:1439 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Hypoplasia of teeth |
OMIM:234050 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Tetraamelia Syndrome 1 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Hypoplastic pelvis, Microphthalmia, Anal atresia |
OMIM:273395 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Duplication of ... |
ORPHA:2363 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Cerebral edema |
ORPHA:88619 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Bloom Syndrome |
|
Syndactyly, Agenesis of maxillary lateral incisor, Facial erythema, Hand polydactyly, Dolichoceph... |
OMIM:210900 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Brachycephaly, Orofacial cleft, Thin vermilion border, Everted lowe... |
ORPHA:1519 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Downturned corners of mouth, Chiari type I malformation, Short philtrum, P... |
ORPHA:3455 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Polyhydramnios, Chiari type I malformation, High palate, Cervical cord compressi... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Polyhydramnios, Chiari type I malformation, High palate, Cervical cord compressi... |
ORPHA:353277 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Gangliocytoma |
|
Abnormal cerebellum morphology, Syringomyelia, Abnormal brainstem morphology, Spinal cord tumor |
ORPHA:251937 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, Tethered cord, 2... |
OMIM:107480 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Chiar... |
ORPHA:261537 |
| Timothy Syndrome |
|
Microdontia, Thin upper lip vermilion, Cutaneous syndactyly |
OMIM:601005 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Abnormality of dental color, Cranial asymmetry |
OMIM:163200 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Celiac disease, Everted lower lip vermilion, Abnormal midbrain morphology, Brachydactyly |
ORPHA:293987 |
| Scalp-Ear-Nipple Syndrome |
|
Frontal bossing, Finger syndactyly, Palpebral edema, Calvarial skull defect, 3-4 finger cutaneous... |
OMIM:181270 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d... |
ORPHA:857 |
| Coffin-Siris Syndrome 12 |
|
Frontal bossing, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard ... |
OMIM:619325 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Spina bifida, Hydrocephalus, Anal atresia |
ORPHA:322 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Edema,... |
OMIM:236700 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Thin upper lip vermilion, Syndactyly, Scapular winging, Single transverse palm... |
OMIM:150230 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Pallor, Ganglioneuroma... |
ORPHA:653 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widel... |
ORPHA:2152 |
| Von Hippel-Lindau Disease |
|
Cerebellar hemangioblastoma, Pallor, Macular edema |
ORPHA:892 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth,... |
ORPHA:191 |
| Phace Association |
|
Cerebellar hypoplasia, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:606519 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Tapered finger, Short toe, Abnormal brainstem morphology, Oligohydramnios, Short ... |
ORPHA:464311 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Microphthalmia |
OMIM:610651 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Chiar... |
ORPHA:261552 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, High palate |
OMIM:110100 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Jejunal atresia, Acrania, Ileal atresia, Chiari malformation, Holoprosencephaly, Long... |
OMIM:618820 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Craniosynostosis, Macrodacty... |
ORPHA:744 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Delayed eruption of primary teeth |
OMIM:300952 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hydrops fetalis |
OMIM:224120 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Thin vermilion border, High p... |
OMIM:619869 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly |
ORPHA:110 |
| Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Microphthalmia, Enamel hypoplasia, Dense calcifications in the cerebellar dentate ... |
ORPHA:90324 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor... |
OMIM:154500 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Cerebellar hypoplasia, Microphthalmia, Dandy-Walker malfor... |
ORPHA:42775 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... |
OMIM:309000 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Optic nerve hypoplasia, Polyhydramnios, 2-3 toe syndactyly, Talipes equinovaru... |
OMIM:620025 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Syndactyly, Postaxial polydactyly, Edema, Aqueductal stenosis, Polyhydramnios, H... |
OMIM:619534 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short hard palate, Genu varum |
ORPHA:1969 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Cerebellar atrophy |
OMIM:175780 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Thin vermilion border, Aplasia/Hypoplasia... |
ORPHA:649 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
