Fryns Microphthalmia Syndrome |
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Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia |
OMIM:600776 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Frontal bossing, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht... |
OMIM:607597 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Facial Clefting, Oblique, 1 |
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Microphthalmia, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Anophthalmia Plus Syndrome |
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Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li... |
ORPHA:1104 |
Anencephaly 2 |
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Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
Microphthalmia, Isolated, With Coloboma 5 |
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Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Acalvaria |
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Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Calvarial skull defect |
ORPHA:945 |
Frontonasal Dysplasia 3 |
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Microphthalmia, Facial cleft, Brachycephaly, Cleft palate |
OMIM:613456 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior... |
OMIM:601357 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Cerebrooculonasal Syndrome |
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Anophthalmia, Brachycephaly, Facial cleft, Widely spaced teeth, High palate, Solitary median maxi... |
ORPHA:66625 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Frontofacionasal Dysplasia |
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Encephalocele, Non-midline cleft lip, Brachycephaly, Cleft palate, Facial cleft, Microphthalmia, ... |
ORPHA:1791 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis |
ORPHA:2476 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Frontal Encephalocele |
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Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Acheiropody |
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Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Meckel Syndrome, Type 8 |
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Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Cleft upper lip, Cleft palate... |
OMIM:613885 |
Leri-Weill Dyschondrosteosis |
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Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Schisis Association |
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Encephalocele, Omphalocele, Spina bifida, Microcephaly, Anencephaly, Tracheoesophageal fistula, C... |
ORPHA:63862 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Lethal Faciocardiomelic Dysplasia |
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Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate |
OMIM:164180 |
Gollop-Wolfgang Complex |
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Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Oculomaxillofacial Dysostosis |
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Median cleft lip, Abnormality of the dentition, Facial cleft, Cleft palate, Aplasia/Hypoplasia af... |
ORPHA:1794 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
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Microphthalmia, Abnormal calvaria morphology, Median cleft palate |
ORPHA:2432 |
Mesomelic Dysplasia, Savarirayan Type |
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Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Acrofacial Dysostosis, Catania Type |
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Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth, Microcephaly, Faci... |
ORPHA:1786 |
Unilateral Ocular Duplication |
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Encephalocele, Frontal bossing, Median cleft lip, Midline facial cleft, Cleft palate, Dolichocephaly |
ORPHA:3374 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Microcephaly, Brachycephaly, High palate, Narrow mouth, Microphthalmia |
ORPHA:2528 |
Craniotelencephalic Dysplasia |
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Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal en... |
ORPHA:1528 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
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Microphthalmia, Microcephaly |
OMIM:616335 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Inguinal hernia, Spina bifida, Long philtrum |
OMIM:211960 |
Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft pala... |
ORPHA:2189 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Gombo Syndrome |
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Microphthalmia, Microcephaly |
OMIM:233270 |
Endove Syndrome, Limb-Only Type |
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Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Intrauterine growth retardation, Cleft palate, Microcephaly |
OMIM:616570 |
Central Retinal Vein Occlusion |
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Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Acrofacial Dysostosis, Weyers Type |
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Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... |
ORPHA:952 |
Laurin-Sandrow Syndrome |
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Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
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Microcephaly, Cleft upper lip, Facial cleft, Cleft palate, Narrow mouth |
OMIM:239800 |
Camptodactyly Syndrome, Guadalajara Type 1 |
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Spina bifida, Microcephaly, Open bite, Abnormality of dental eruption, Brachycephaly, Dental malo... |
ORPHA:1327 |
Treacher-Collins Syndrome |
|
Encephalocele, Frontal bossing, Branchial fistula, Abnormal dental morphology, Abnormal dental en... |
ORPHA:861 |
Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Mi... |
ORPHA:2117 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Craniosynostosis, Conical tooth, Parietal foramina... |
OMIM:613451 |
Mosaic Trisomy 9 |
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Intestinal malrotation, Spina bifida, Microcephaly, Facial cleft, Cleft palate, Prominent occiput... |
ORPHA:99776 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Isolated Dandy-Walker Malformation |
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Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia |
ORPHA:217 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Frontal bossing, Lip pit, Microcephaly, Brachycephaly, Facial cleft, Hypodontia, Microphthalmia, ... |
ORPHA:1236 |
Constricting Bands, Congenital |
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Encephalocele, Omphalocele, Cleft upper lip, Facial cleft, Cleft palate, Gastroschisis, Bladder e... |
OMIM:217100 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly |
ORPHA:293 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Maternal Hyperthermia-Induced Birth Defects |
|
Microcephaly, Cleft palate, Intrauterine growth retardation, Aplasia/Hypoplasia affecting the eye... |
ORPHA:2216 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Solitary Median Maxillary Central Incisor |
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Anophthalmia, Cleft upper lip, Microcephaly, Prominent median palatal raphe, Holoprosencephaly, T... |
OMIM:147250 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Mmep Syndrome |
|
Microphthalmia, Median cleft lip, Orofacial cleft, Microcephaly |
ORPHA:3434 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Microphthalmia, Midface retrusion |
ORPHA:1135 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Caudal Duplication |
|
Omphalocele, Spina bifida, Myelomeningocele, Spinal cord lesion, Intestinal duplication |
ORPHA:1756 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Orofacial cleft |
ORPHA:324416 |
Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Cleft palate |
ORPHA:957 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... |
OMIM:605627 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Micro... |
OMIM:603194 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Facial cleft, Orofacial cleft, Wide mouth, Calvarial skull defect |
ORPHA:1647 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Aplasia Cutis Congenita |
|
Calvarial skull defect, Spinal dysraphism |
ORPHA:1114 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Abcd Syndrome |
|
Polycythemia, Hypopigmentation of the fundus |
OMIM:600501 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Trisomy 13 |
|
Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Cleft palate, ... |
ORPHA:3378 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida, Microcephaly |
ORPHA:64754 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor... |
ORPHA:411986 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Wide mou... |
ORPHA:3219 |
Holoprosencephaly 1 |
|
Proboscis, Microcephaly, Alobar holoprosencephaly, Facial cleft, Microphthalmia, Ethmocephaly, Mi... |
OMIM:236100 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Isolated Klippel-Feil Syndrome |
|
Anal atresia, Ectopic anus, Spina bifida, Cleft palate |
ORPHA:2345 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Natal tooth, Selective tooth agenesis, Spina bifida, Microcephaly, High, narrow ... |
OMIM:234100 |
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 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Iniencephaly |
|
Encephalocele, Omphalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, H... |
ORPHA:63259 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-spaced maxillary central inc... |
OMIM:601349 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmi... |
OMIM:611134 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:120433 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia |
OMIM:611561 |
Diabetic Embryopathy |
|
Frontal bossing, Microcephaly, Hydrocephalus, Cleft palate, Spinal dysraphism, Aplasia/Hypoplasia... |
ORPHA:1926 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Conical tooth, Abnormality of the dentition, Brachycephaly, Micro... |
ORPHA:228390 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Microcephaly, Brachycephaly, Everted lower lip vermilion, High palate, Aplasia/H... |
ORPHA:1695 |
Pierpont Syndrome |
|
Thin upper lip vermilion, Brachycephaly, Broad philtrum, Thin vermilion border, Widely spaced tee... |
ORPHA:487825 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Facial cleft, Cleft palate, Cranium bifidum occultum, Microphthalmia, Hypoplasia of the frontal bone |
ORPHA:306542 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Hypoplasia ... |
OMIM:607143 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Pierpont Syndrome |
|
Microcephaly, Brachycephaly, Broad philtrum, Prominent median palatal raphe, Thin vermilion borde... |
OMIM:602342 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Optic nerve hypoplasia, Cleft upper lip, Parietal foramina, Midline facial cleft, ... |
OMIM:603671 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper li... |
OMIM:219000 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Facial cleft, Tracheoesophageal fistula, Orofacial cleft, Microphthalmia |
ORPHA:268249 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Trisomy 1Q |
|
Omphalocele, Frontal bossing, Anophthalmia, Hydrocephalus, Cleft palate, Narrow mouth, Anal atresia |
ORPHA:261344 |
Trisomy 20P |
|
Frontal bossing, Inguinal hernia, Spina bifida, Abnormality of the dentition, Brachycephaly, Plag... |
ORPHA:261318 |
Congenital Varicella Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Microcephaly |
ORPHA:291 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Microcephaly, Non-midline cleft lip, Meningocele, Anencephaly, Hydrocephalus, Clef... |
ORPHA:1908 |
Trisomy 18 |
|
Omphalocele, Spina bifida, Dolichocephaly, Microcephaly, Esophageal atresia, Non-midline cleft li... |
ORPHA:3380 |
Craniorachischisis |
|
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia... |
ORPHA:63260 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microglossia, Cleft palate, Hydranencephal... |
ORPHA:2839 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate |
ORPHA:1617 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microph... |
OMIM:206920 |
Czeizel-Losonci Syndrome |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Thin calva... |
ORPHA:2437 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephal... |
ORPHA:3412 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... |
OMIM:615631 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Anophthalmia, High, narrow palate, Plagiocephaly, Dolichocephaly, Aniridia, Umbi... |
ORPHA:1101 |
Parietal Foramina 1 |
|
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip |
OMIM:168500 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Frontal bossing, Cloverleaf skull, Downturned corners of mouth, Short philtrum, Plat... |
ORPHA:93267 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... |
ORPHA:894 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cleft palate, Plagioc... |
ORPHA:85284 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Microcephaly, Hydrocephalus, Agenesis of i... |
OMIM:610829 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Femoral b... |
OMIM:608940 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... |
ORPHA:77298 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Holoprosencephaly, Parietal bossing, Median cleft palate,... |
OMIM:610828 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Secondary microcephaly, Long philtrum, Tri... |
OMIM:614583 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Chromosome 17P13.1 Deletion Syndrome |
|
Turricephaly, Spina bifida, Microcephaly, High, narrow palate, Hydrocephalus, Brachycephaly, Plag... |
OMIM:613776 |
Poems Syndrome |
|
Papilledema, Diabetes mellitus, Metaphyseal sclerosis, Clubbing of fingers, Thrombocytosis, Polyc... |
ORPHA:2905 |
Walker-Warburg Syndrome |
|
Anophthalmia, Microcephaly, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthal... |
ORPHA:899 |
Braddock-Carey Syndrome 2 |
|
Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia |
OMIM:619981 |
Monosomy 18P |
|
Microcephaly, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth, Short phil... |
ORPHA:1598 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranence... |
ORPHA:1393 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate, Microcephaly |
ORPHA:139471 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Enlargement of the ankles, Abnormal foot morphology, Leukocytosi... |
ORPHA:542643 |
Cofs Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Everted lower lip vermilion, Microcephaly |
ORPHA:1466 |
Holoprosencephaly |
|
Encephalocele, Frontal bossing, Omphalocele, Anophthalmia, Flat occiput, Bilateral cleft lip, Med... |
ORPHA:2162 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium... |
OMIM:136760 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Microceph... |
OMIM:612530 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly, Widely-spaced incisors |
OMIM:300915 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... |
ORPHA:356961 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia, Microcephaly, Anal atresia, Narrow mouth |
ORPHA:3469 |
Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Microcephaly |
OMIM:617255 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Optic nerve hypoplasia, Microcephaly, Brachycephaly, Lambdoidal craniosynostosis, S... |
OMIM:618736 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Facial cleft, Cleft palate, Oral sy... |
OMIM:263650 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... |
ORPHA:90322 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Intrauterine growth retardation, Microcephaly |
OMIM:616171 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Spina bifida, Microcephaly |
ORPHA:99742 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Microcephaly, Cleft palate, High palate, Intrauterine growth retardation |
OMIM:616038 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel... |
ORPHA:1988 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palat... |
ORPHA:2250 |
Temtamy Syndrome |
|
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology, Dolichocephaly |
ORPHA:1777 |
Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... |
OMIM:616602 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia, Hydrocephalus, Microcephaly |
OMIM:613155 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Microcephaly, Non-midline cleft lip, Cleft palate, Biparietal narrowing... |
ORPHA:1915 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Inguinal hernia, Microcephaly, Brachycephaly, Cleft palate, Oligodontia, High pa... |
OMIM:600325 |
Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus... |
OMIM:109400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Microcephaly |
OMIM:274270 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Congenital Toxoplasmosis |
|
Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Microcephaly |
ORPHA:858 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
3Mc Syndrome 3 |
|
Facial cleft, Cleft palate, Cleft upper lip |
OMIM:248340 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Spina bifida, Microcephaly, Submucous cleft hard palate, Cleft palat... |
ORPHA:2671 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Spin... |
ORPHA:2092 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia |
OMIM:248450 |
Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Microc... |
OMIM:619148 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Meckel Syndrome |
|
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Microcephaly, Hydrocephalus, Anenc... |
ORPHA:564 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Long phil... |
ORPHA:163649 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Hydrocephalus, Wide mouth, Short philtrum, Microphthalmia, Intrauterine growth r... |
ORPHA:163966 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Primary microcephaly |
OMIM:615771 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Aganglionic megacolon, Thin vermilion border, Long philtrum, Microphthalmia, Int... |
ORPHA:1438 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Cat-Eye Syndrome |
|
Microphthalmia, Anal atresia, Intrauterine growth retardation |
ORPHA:195 |
Fraser Syndrome |
|
Encephalocele, Omphalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Microc... |
ORPHA:2052 |
Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Tetraploidy |
|
Microcephaly, Cleft palate, Short philtrum, Biparietal narrowing, Intrauterine growth retardation... |
ORPHA:3305 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Retinal dystrophy, Reticulocytosis |
OMIM:300653 |
Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... |
ORPHA:2751 |
Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:614082 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Microcephaly, Orofacial cleft, Wide mouth, Long philtr... |
OMIM:243310 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Microcephaly, Thin vermilion border, Narrow mouth |
OMIM:600118 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Smooth philtrum |
OMIM:602501 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Orofacial cleft, Hypoplastic iris stroma, Smooth philtrum |
OMIM:193500 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Microcephaly, Submucous cleft hard palate, Spinal dysraphism, Bifid uvula |
OMIM:617660 |
Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia, Microcephaly |
OMIM:308350 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
3Q29 Microduplication Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep philtrum, Cleft palate, Ectopi... |
ORPHA:251038 |
Sandestig-Stefanova Syndrome |
|
Orofacial cleft, High palate, Primary microcephaly, Trigonocephaly, Microphthalmia, Intrauterine ... |
OMIM:618804 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Sirenomelia |
|
Spina bifida, Tracheoesophageal fistula, Anal atresia, Sirenomelia |
ORPHA:3169 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Tented upper lip vermilion, Microcephaly, High palate, Short philtrum, Long phil... |
OMIM:614105 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microdontia, Microphthalmia, Widely spaced teeth, Microcephaly |
OMIM:619694 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Triploidy |
|
Omphalocele, Intestinal malrotation, Non-midline cleft lip, Meningocele, Hydrocephalus, Cleft pal... |
ORPHA:3376 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Brachycephaly, Cleft palate, Dow... |
ORPHA:404440 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Exaggerated cupid's bow, Microcephaly, Cleft lip, Deep philtrum, Cleft palate, S... |
OMIM:620098 |
Bartsocas-Papas Syndrome 2 |
|
Prominent occiput, Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate |
OMIM:619339 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Downturned corners of mouth, Macroglossia... |
ORPHA:369891 |
Fanconi Anemia, Complementation Group R |
|
Tethered cord, Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal atr... |
OMIM:617244 |
Nail-Patella Syndrome |
|
Cleft palate, Spina bifida, Microphakia, Cleft upper lip |
OMIM:161200 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Short philtr... |
OMIM:614424 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Syndactyly, Anemia of inadequate production, Anisocytosis, Spl... |
OMIM:224120 |
Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal ... |
ORPHA:2538 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Frontal bossing, Hydrocephalus, Intrauterine growth retardation |
OMIM:300863 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:611490 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Microcephaly, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia |
ORPHA:2505 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia, Bilateral cleft lip and palate |
ORPHA:1473 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Seckel Syndrome 2 |
|
Microdontia, Microphthalmia, Microglossia, Microcephaly |
OMIM:606744 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Tethered cord, Exaggerated cupid's bow, Spina bifida, Narrow mouth, Plagiocephal... |
OMIM:619480 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte... |
OMIM:263520 |
22Q11.2 Deletion Syndrome |
|
Short philtrum, Abnormal dental enamel morphology, Spina bifida, Multiple suture craniosynostosis... |
ORPHA:567 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thin upper lip vermilion, Flat occiput, Microcephaly, Deep philtrum, Thick lower lip vermilion, L... |
OMIM:152950 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Macular edema, Retinal capillary heman... |
ORPHA:892 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Frontal bossing, Duodenal stenosis |
ORPHA:2547 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:609054 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... |
ORPHA:2712 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Aicardi Syndrome |
|
Spina bifida, Microcephaly, Hiatus hernia, Cleft upper lip, Cleft palate, Microphthalmia |
OMIM:304050 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Fanconi Anemia |
|
Frontal bossing, Aganglionic megacolon, Spina bifida, Microcephaly, Aplasia/Hypoplasia of the uvu... |
ORPHA:84 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia |
ORPHA:83628 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Microcephaly, Long philtrum |
OMIM:300887 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, L... |
ORPHA:137634 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Cloacal Exstrophy |
|
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad... |
ORPHA:93929 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Marden-Walker Syndrome |
|
Inguinal hernia, Microcephaly, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, ... |
OMIM:248700 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Exencephaly, Brachycephaly, Long philtrum |
ORPHA:2211 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... |
ORPHA:96334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal sp... |
ORPHA:2369 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Frontorhiny |
|
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid... |
ORPHA:391474 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Narrow mouth, Microphthalmia |
OMIM:611961 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Orofacial cleft, Bifid uvula, Cranium bifidum occultum, Microphth... |
OMIM:229400 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Anophthalmia, Intestinal malrotation, Cl... |
OMIM:305600 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Frontal bossing, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Dolichoceph... |
OMIM:618571 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Intestinal malrotation, Microcephaly, Hydrocephalus, Cleft palate, Or... |
ORPHA:2166 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Microcephaly |
OMIM:251270 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim... |
ORPHA:90321 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Heart And Brain Malformation Syndrome |
|
Microcephaly, Cleft lip, High, narrow palate, Thick lower lip vermilion, Prominent occiput, Evert... |
OMIM:616920 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphthalmia... |
ORPHA:2728 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... |
OMIM:601707 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Cleft upper lip, Swollen lip, Thick lower lip vermilion, Cleft palate, Short umbili... |
OMIM:256520 |
Jacobsen Syndrome |
|
Frontal bossing, Inguinal hernia, Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnorma... |
ORPHA:2308 |
Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Esophag... |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate, Buphthalmos, Macroglos... |
OMIM:613150 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Microcephaly, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip ve... |
OMIM:617883 |
Seckel Syndrome 10 |
|
Microretrognathia, Retinal detachment, Diabetes mellitus, Impaired glucose tolerance, Elevated he... |
OMIM:617253 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Microcephaly, Thin vermilion border, Severe intrauteri... |
OMIM:241410 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:48431 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Macroglossia, Micro... |
ORPHA:370959 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcephaly, Brachycephaly, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum |
OMIM:156610 |
3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Brachycephaly, Cl... |
ORPHA:435638 |
Trichothiodystrophy 3, Photosensitive |
|
Eclabion, Natal tooth, Carious teeth, Pyloric stenosis, Trigonocephaly, Microphthalmia, Meckel di... |
OMIM:616395 |
Fumarase Deficiency |
|
Optic atrophy, Polycythemia |
OMIM:606812 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Microcephaly, Cleft upper lip, Hydrocephalus, Holoprosencephaly, Micr... |
OMIM:264480 |
Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Wide mouth, Long philtrum, Mic... |
ORPHA:1942 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Neurooculocardiogenitourinary Syndrome |
|
Downturned corners of mouth, Microphthalmia, Secondary microcephaly, Smooth philtrum |
OMIM:618652 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Microcephaly, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Proboscis, Agenesis of canine, Orofacial cleft, High palate... |
ORPHA:141099 |
Temtamy Syndrome |
|
Frontal bossing, Dental crowding, Hypoplasia of teeth, Long philtrum, Microphthalmia |
OMIM:218340 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Microcephaly, Carious teeth, Thin vermilion border, Long philtrum, Mic... |
OMIM:214150 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Cleft palate, Microcephaly |
OMIM:257910 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... |
ORPHA:2780 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Microcephaly, Supernumerar... |
OMIM:300166 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, Microcephaly |
OMIM:619318 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Retinal dystrophy, Reticulocytosis |
ORPHA:713 |
Ogden Syndrome |
|
Microretrognathia, Congenital hip dislocation, Sandal gap, Broad hallux, Maternal diabetes, Micro... |
OMIM:300855 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Microcephaly |
ORPHA:290 |
Campomelic Dysplasia |
|
Frontal bossing, Irregular dentition, Spina bifida, Carious teeth, Hydrocephalus, Submucous cleft... |
OMIM:114290 |
Microphthalmia, Syndromic 9 |
|
Intrauterine growth retardation, Inguinal hernia, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Microcephaly, Pierre-... |
ORPHA:364577 |
Von Hippel-Lindau Syndrome |
|
Retinal capillary hemangioma, Polycythemia |
OMIM:193300 |
Warburg Micro Syndrome 4 |
|
Narrow mouth, Brachycephaly, Secondary microcephaly, Long philtrum, Microphthalmia |
OMIM:615663 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Microcephaly, Cleft palate, Furrowed tongue, High pa... |
OMIM:616449 |
Joubert Syndrome 22 |
|
Microphthalmia, Intrauterine growth retardation |
OMIM:615665 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Abnormally large globe, Hydrocephalus, Microphthalmia, Progressive microcephaly |
OMIM:615249 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Abnormally large glo... |
OMIM:239300 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Midface retrusion, Spinal dysraphism |
OMIM:603546 |
Joubert Syndrome 37 |
|
Microphthalmia, Frontal bossing, High palate |
OMIM:619185 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, High, narrow palate, Cleft palate, Anteriorly placed anus, Long philtru... |
OMIM:618494 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Long philtrum |
OMIM:615877 |
Warburg Micro Syndrome 3 |
|
Microcephaly, Brachycephaly, Narrow palate, Downturned corners of mouth, Secondary microcephaly, ... |
OMIM:614222 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Micrognathia |
OMIM:619074 |
Teebi-Shaltout Syndrome |
|
Turricephaly, Microcephaly, High, narrow palate, Scaphocephaly, Cleft palate, Wide mouth, Oligodo... |
OMIM:272950 |
1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Inguinal hernia, Microcephaly, Hydrocephalus, High palate, Long philtrum, Microp... |
ORPHA:250989 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Dental crowding, Hypoplasia of the primary teeth, Den... |
OMIM:257850 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microdontia, Microphthalmia, Inguinal hernia |
ORPHA:3191 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus |
OMIM:613153 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Spina bifida, Microcephaly, Long philtrum, Micr... |
ORPHA:508498 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microcephaly, Brachycephaly, Cleft palate, Plagiocephaly, Bifid uvula, High palate,... |
OMIM:607932 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Secondary microcephaly |
OMIM:613730 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Cranial hyperostosis, Tethered cord, Spinal dysraphism |
OMIM:612918 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Avascular necr... |
ORPHA:247691 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Microcephaly |
OMIM:614219 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Intrauterine growth retardation, Microcephaly |
OMIM:610756 |
14Q22Q23 Microdeletion Syndrome |
|
Downturned corners of mouth, Optic nerve aplasia, Anophthalmia, Brachycephaly |
ORPHA:264200 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Inguinal hernia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Frontal bossing |
ORPHA:2788 |
Pagod Syndrome |
|
Encephalocele, Omphalocele, Spina bifida, Microcephaly, Meningocele |
ORPHA:991 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Nance-Horan Syndrome |
|
Microphthalmia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Microc... |
ORPHA:138 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Inguinal hernia, Deep philtrum, Umbilical hernia, High... |
OMIM:613884 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Frontal bossing, Cleft upper lip, Esophageal atresia, Facial cleft, Ectopic anus, Lo... |
ORPHA:93271 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum |
ORPHA:85194 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Rubinstein-Taybi Syndrome 1 |
|
Frontal bossing, Thin upper lip vermilion, Dental crowding, Spina bifida, Microcephaly, Parietal ... |
OMIM:180849 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Bilateral microphthalmos, Thick lower lip vermilion, ... |
ORPHA:2563 |
Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Hiatus hernia, Microcephaly, High palate, Narrow mouth, Microphthalmia, Midface ... |
OMIM:617729 |
Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... |
ORPHA:2059 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos, Microcephaly |
ORPHA:77299 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Hydrocephalus, High palate, Dolichocephaly, Microphthalmia |
OMIM:608091 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Martsolf Syndrome 1 |
|
Inguinal hernia, Microcephaly, Brachycephaly, High palate, Short philtrum, Long philtrum, Microph... |
OMIM:212720 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Microcepha... |
OMIM:608670 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Brachycephaly |
OMIM:612379 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Malabsorption, Brachycephaly, Gingival overgrowth, Spinal dysraphism, Apla... |
ORPHA:175 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal dental enamel morphology, Microcephaly, Hydrocephalus, Abnormal rectum mor... |
ORPHA:2556 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hydrocephalus, Ankyloglossia |
OMIM:602361 |
Moebius Syndrome |
|
Microphthalmia, High palate, Bifid uvula, Abnormality of the dentition |
OMIM:157900 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Re... |
OMIM:600145 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Dolichocephaly |
OMIM:167730 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Crouzon Syndrome |
|
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, High p... |
OMIM:123500 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Narrow mouth, Hydrocephalus, Orofa... |
ORPHA:77301 |
Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Microcephaly, Hydrocephalus, Cle... |
OMIM:243605 |
Cousin Syndrome |
|
Frontal bossing, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microph... |
OMIM:260660 |
Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Esophageal varix, Microphthalmia, Calvarial skull defect |
ORPHA:974 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia |
ORPHA:3301 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Microcephaly, Orofacial cleft, High palate, Short ... |
ORPHA:65286 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia |
ORPHA:309854 |
Galloway-Mowat Syndrome 1 |
|
Flat occiput, Hiatus hernia, Microcephaly, Hypoplasia of the iris, Wide mouth, High palate, Secon... |
OMIM:251300 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Microcephaly, Meningoencephaloc... |
OMIM:236670 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia, Microphthalmia |
OMIM:201180 |
Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos |
OMIM:615085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate |
OMIM:619053 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Microcephaly, Thick vermilion border, Long philtrum, Microphthalmia |
ORPHA:2526 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal dental morphology, Craniosynostosis, Microcephaly, Spina bifida, Hydrocephalus, Dural ec... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal dental morphology, Craniosynostosis, Microcephaly, Spina bifida, Hydrocephalus, Dural ec... |
ORPHA:363958 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,... |
OMIM:113620 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Microcephaly, High, ... |
ORPHA:193 |
Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia, Frontal bossing, Intrauterine growth retardation |
ORPHA:494344 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Microcephaly, Unilateral microphthalmos, Bilateral cleft lip and palate... |
OMIM:618874 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, ... |
OMIM:603457 |
Curry-Jones Syndrome |
|
Microphthalmia, Intestinal malrotation, Craniosynostosis |
ORPHA:1553 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Microcephaly, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin ver... |
ORPHA:251014 |
Mosaic Trisomy 1 |
|
Omphalocele, Frontal bossing, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upp... |
ORPHA:1692 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Distal Deletion 3P |
|
Inguinal hernia, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin ver... |
ORPHA:1620 |
Jacobsen Syndrome |
|
Flat occiput, Microcephaly, Pyloric stenosis, Hydrocephalus, Macular hypoplasia, Holoprosencephal... |
OMIM:147791 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Oculo-Palato-Cerebral Syndrome |
|
Microcephaly, High, narrow palate, Cleft palate, Microphthalmia, Intrauterine growth retardation |
ORPHA:2714 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Cleft upper lip, Cleft palate, Microphthalmia, Intrauterine growth retard... |
OMIM:244300 |
Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
Holoprosencephaly 3 |
|
Proboscis, Microcephaly, Cleft lip, Cleft palate, Holoprosencephaly, Midface retrusion, Solitary ... |
OMIM:142945 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Microcephaly |
OMIM:617914 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Microcephaly, Bilateral microphthalmos, Dolichocephaly |
ORPHA:2399 |
Micro Syndrome |
|
Microcephaly, High palate, Short philtrum, Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Ulnar Hemimelia |
|
Spinal dysraphism |
ORPHA:93320 |
Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow m... |
OMIM:300895 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, High, narrow ... |
ORPHA:464738 |
Charge Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Cleft upper lip, Microcephaly, Esophageal atresia, Trac... |
OMIM:214800 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microcephaly, Anteriorly placed anus, Microphthalmia, Anal atresia, Intrauterine growth retardation |
ORPHA:1352 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
Holoprosencephaly 2 |
|
Proboscis, Microcephaly, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft l... |
OMIM:157170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia |
OMIM:614643 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Secondary microcephaly, Brachycephaly, Microcephaly |
OMIM:614225 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Anal atresia, Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intest... |
OMIM:249000 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he... |
OMIM:115470 |
8Q21.11 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, High palate, ... |
ORPHA:284160 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Splenomegaly, Choroideremia, Polycythemia, Neonatal hypoglycemia |
ORPHA:116 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Hallermann-Streiff Syndrome |
|
Frontal bossing, Natal tooth, Abnormality of the dentition, Microcephaly, High, narrow palate, Su... |
ORPHA:2108 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Microcephaly, Cleft palate, Taurodontia... |
OMIM:164200 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia |
OMIM:218550 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Short philtrum, ... |
OMIM:614230 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Microcephaly, Carious teeth, Velopharyngeal insuffici... |
OMIM:223370 |
Atelis Syndrome 2 |
|
Frontal bossing, Microcephaly, Diastema, Thick lower lip vermilion, Downturned corners of mouth, ... |
OMIM:620185 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Frontal bossing, Spina bifida, Hydrocephalus, Cleft palate, Narrow mouth, Umbilical ... |
OMIM:304120 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... |
OMIM:618727 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Meckel Syndrome 14 |
|
Holoprosencephaly, Microphthalmia, Decreased calvarial ossification, Occipital encephalocele |
OMIM:619879 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Intestinal malrotation, Orofacial cleft |
ORPHA:2328 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthalmia |
ORPHA:2612 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Microcephaly |
OMIM:609053 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Intrauterine growth retardation, Bilateral microphthalmos, Short philtrum, Microcephaly |
OMIM:610758 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Cleft upper lip, Hydrocephalus, Cleft palate, Wide mouth, ... |
OMIM:164210 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Microcephaly... |
ORPHA:568 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Monosomy 9P |
|
Abnormality of the dentition, Microcephaly, Narrow mouth, Brachycephaly, Cleft palate, High palat... |
ORPHA:261112 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Congenital Fibrinogen Deficiency |
|
Microphthalmia, Volvulus, Gingival bleeding |
ORPHA:335 |
Aicardi Syndrome |
|
Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Microcephaly, Cleft palate, ... |
ORPHA:50 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Microcephaly, Hydrocephalus, Bladder e... |
ORPHA:322 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Frontal bossing |
OMIM:617306 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Frontal bossing, High palate |
ORPHA:35173 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Frontal bossing, Stomach cancer, Microcephaly, Cleft palate, Colon cancer, ... |
ORPHA:1052 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Clubbing, Choriocapillaris atrophy, Polycythemia, Anemia |
OMIM:600376 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Microcephaly, Cleft upper lip, Cleft palate, Microphthalmia, Calvarial skull defect |
OMIM:100300 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Median cleft lip, Microcephaly, Orofacial cleft, Holoprosencephaly, Microphthalmia |
ORPHA:3186 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
Vater/Vacterl Association |
|
Occipital encephalocele, Tethered cord, Spina bifida, Esophageal atresia, Tracheoesophageal fistu... |
OMIM:192350 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
Mend Syndrome |
|
Asymmetry of the mouth, Hydrocephalus, Cleft palate, High palate, Microphthalmia, Midface retrusion |
ORPHA:401973 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Oculocerebrorenal Syndrome Of Lowe |
|
Flat occiput, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel m... |
ORPHA:534 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Microcephaly, Hypoplasia of teeth |
OMIM:234050 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Turricephaly, Craniosynostosis, Protruding tongue, Microcephaly, High, ... |
OMIM:612289 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Long philtrum |
OMIM:615145 |
Branchioskeletogenital Syndrome |
|
Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, Carious teeth, Microceph... |
ORPHA:1299 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Microphthalmia, Anal ... |
OMIM:614083 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Sagittal... |
OMIM:614188 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Gastroschisis, Microphthalmia, Anal atresia |
OMIM:273395 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Narrow philtrum, Thin vermilion border, Thin calvariu... |
OMIM:601812 |
Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... |
OMIM:612109 |
Roberts Syndrome |
|
Craniosynostosis, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, High palate, Severe... |
ORPHA:3103 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Microphtha... |
OMIM:146510 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Monosomy 13Q14 |
|
Microcephaly, Holoprosencephaly, Trigonocephaly, Microphthalmia, Intrauterine growth retardation |
ORPHA:1587 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Aganglionic megacolon, Optic disc hypoplasia, Microphthalmia, Spina bifida occulta... |
OMIM:607323 |
Thoracoabdominal Syndrome |
|
Omphalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:313850 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmi... |
OMIM:309801 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Microcephaly, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Mi... |
OMIM:616975 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Scaphocephaly, Cranial asymmetry, Microcephaly |
OMIM:614886 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, Microcephaly, High, narrow... |
OMIM:309800 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Microcephaly, Scaphocephaly, Thick vermilion border, Microdont... |
OMIM:620005 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Microcephaly, Malabsorption, Microphthalmia, Triangular mouth |
OMIM:601675 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Dolichocephaly, Carious teeth, Downturned ... |
OMIM:620186 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Thin upper lip vermilion |
OMIM:619135 |
Myhre Syndrome |
|
Thin upper lip vermilion, Microcephaly, Cleft lip, Cleft palate, Short philtrum, Narrow mouth, Mi... |
OMIM:139210 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Rothmund-Thomson Syndrome, Type 2 |
|
Delayed eruption of teeth, Frontal bossing, Supernumerary tooth, Hypoplasia of teeth, Anteriorly ... |
OMIM:268400 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Clubbing, Polycythemia, Anemia |
OMIM:187300 |
Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Abnormal occipital bone morphology, Abnormality of dental struct... |
ORPHA:3472 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Refsum Disease |
|
Microphthalmia |
ORPHA:773 |
Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Intrauterine growth retardation, Microcephaly, Duodenal atresia |
OMIM:603467 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microcephaly, Short uvula, Lens coloboma, Submucous cleft hard palate, D... |
OMIM:619539 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Macrodontia, Microcephaly, Brachycephaly, Cleft palate, High palate, Sh... |
OMIM:309500 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Craniosynostosis, Abnormal occipital bone morphology, Microcephaly, Bilat... |
ORPHA:468631 |
Cockayne Syndrome B |
|
Delayed eruption of primary teeth, Microcephaly, Carious teeth, Dental malocclusion, Hypoplasia o... |
OMIM:133540 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:153400 |
Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upp... |
OMIM:229850 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Microcephaly, Oligodontia, Hyp... |
OMIM:308300 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, High palate |
OMIM:110100 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Frontal bossing |
OMIM:302960 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal bossing, Turricephaly, Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion,... |
OMIM:612474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, ... |
OMIM:253280 |
Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
Trichothiodystrophy |
|
Craniosynostosis, Microcephaly, Carious teeth, High, narrow palate, Bilateral microphthalmos, Umb... |
ORPHA:33364 |
Histiocytoid Cardiomyopathy |
|
Microphthalmia, Hydrocephalus, Cleft palate, Congenital aphakia |
ORPHA:137675 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Microcephaly |
OMIM:610651 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Microcephaly |
OMIM:278730 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Microcephaly, Carious teeth, Cleft palate, Narrow mouth, Microdontia, M... |
OMIM:616734 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... |
OMIM:218330 |
Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
Degcags Syndrome |
|
Jejunal atresia, Craniosynostosis, Protruding tongue, Hiatus hernia, Pyloric stenosis, Microcepha... |
OMIM:619488 |
Fanconi Anemia, Complementation Group D2 |
|
Microcephaly, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Microphthalmia |
OMIM:227646 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Delayed eruption of primary teeth |
OMIM:300952 |
Witteveen-Kolk Syndrome |
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Frontal bossing, Thin upper lip vermilion, Branchial fistula, Inguinal hernia, Microcephaly, High... |
OMIM:613406 |
Fanconi Anemia, Complementation Group C |
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Microphthalmia, Intrauterine growth retardation, Microcephaly |
OMIM:227645 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Microphthalmia, High palate, Bifid uvula, Dental malocclusion |
OMIM:601552 |
Fraser Syndrome 2 |
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Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia |
OMIM:617666 |
Pallister-Hall Syndrome |
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Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Scaphocephaly, Cleft palate, Um... |
ORPHA:672 |
Pierson Syndrome |
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Rieger anomaly, Hypoplasia of the ciliary body, Microcephaly, Hypoplasia of the iris, Macular hyp... |
OMIM:609049 |
Persistent Hyperplastic Primary Vitreous |
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Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
Fanconi Anemia, Complementation Group E |
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Microphthalmia, Microcephaly |
OMIM:600901 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor... |
OMIM:154500 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia, Microcephaly |
OMIM:227650 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Cockayne Syndrome |
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Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Abnormal number of ... |
ORPHA:191 |
Roberts-Sc Phocomelia Syndrome |
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Craniosynostosis, Cleft upper lip, Microcephaly, Hydrocephalus, Frontal encephalocele, Brachyceph... |
OMIM:268300 |
Papillorenal Syndrome |
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Microphthalmia |
OMIM:120330 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
8Q24.3 Microdeletion Syndrome |
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Branchial cyst, Thin upper lip vermilion, Inguinal hernia, Optic nerve hypoplasia, Bilateral micr... |
ORPHA:508488 |
Phace Association |
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Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Microphthalmia |
ORPHA:85167 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Abnormality of dental color, Cranial asymmetry |
OMIM:163200 |
Acro-Renal-Ocular Syndrome |
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Aganglionic megacolon, Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
Cockayne Syndrome Type 3 |
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Carious teeth, Microphthalmia, Enamel hypoplasia, Progressive microcephaly |
ORPHA:90324 |
Arthrogryposis, Distal, Type 4 |
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Cranial asymmetry |
OMIM:609128 |
Phace Syndrome |
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Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Microcephaly |
ORPHA:42775 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Submucous cleft... |
OMIM:235730 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Carious teeth, Intrauterine growth retardation, Bilateral microphthalmos, Persistence of primary ... |
ORPHA:93325 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia, Phthisis bulbi, Microcephaly |
OMIM:259770 |
Wiedemann-Rautenstrauch Syndrome |
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Frontal bossing, Natal tooth, Thin upper lip vermilion, Optic disc hypoplasia, Abnormality of the... |
ORPHA:3455 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Mi... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl... |
ORPHA:261537 |
Kenny-Caffey Syndrome, Type 2 |
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Microphthalmia |
OMIM:127000 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Delayed eruption of teeth, Frontal bossing, Dental crowding, Aganglionic megacolon, Abnormal dent... |
ORPHA:261552 |
Norrie Disease |
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Aplasia/Hypoplasia of the lens, Microcephaly, Hypoplasia of the iris, Thin vermilion border, Micr... |
ORPHA:649 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:175780 |
Lowe Oculocerebrorenal Syndrome |
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Microphthalmia, Enamel hypoplasia |
OMIM:309000 |
Townes-Brocks Syndrome |
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Rectoperineal fistula, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Microphthalmia, ... |
ORPHA:857 |
Glycine Encephalopathy 2 |
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OMIM:620398 |