Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Cleft palate, Oligodontia, Cubitus valgus, Delayed eruption of teeth, Iris co... |
ORPHA:2712 |
Cofs Syndrome |
|
Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Microphthalmia, Intrauterine gr... |
ORPHA:1466 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos |
OMIM:611638 |
Achondrogenesis Type 2 |
|
Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequence, Lens subluxation, Short ... |
ORPHA:93296 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Cerebral hemorrhage, Moyamoya phenomenon, Short stature, Azoospermia, Bro... |
OMIM:300845 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Cleft palate, Malar flattening, Joint contracture of the hand, Short ribs, Hydrocephalus, Camptod... |
OMIM:224400 |
Marshall Syndrome |
|
Cleft palate, Short stature, Short nose, Malar flattening, Anteverted nares, Hypoplasia of the ma... |
ORPHA:560 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Microphthalmia, Short philtrum, Cloverleaf skull, Large fontanelles, Abnormality of... |
ORPHA:93267 |
Temtamy Syndrome |
|
Micrognathia, Convex nasal ridge, Short 2nd toe, Chorioretinal coloboma, Talipes equinovarus, Ect... |
OMIM:218340 |
Warburg Micro Syndrome 3 |
|
Hypoplastic labia minora, Optic atrophy, Micrognathia, Microcornea, Shallow anterior chamber, Dev... |
OMIM:614222 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
Placental Insufficiency |
|
Eclampsia, Preeclampsia, Intrauterine growth retardation, Maternal hypertension, Proportionate sh... |
ORPHA:439167 |
Marshall Syndrome |
|
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Short stature, Irregula... |
OMIM:154780 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Large beaked nose, Micrognathia, Convex nasal ridge, Developmental cataract, Microphthalmia, Rock... |
OMIM:610756 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Short metatarsal, Broad skull, Hypoplasia of the maxilla, Aortic valve stenosis, U... |
OMIM:608328 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger,... |
ORPHA:163649 |
Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Cleft palate, Pierre-Robin sequence, Abnormal bone structure, ... |
ORPHA:485 |
Trisomy 13 |
|
Cleft palate, Abnormal morphology of female internal genitalia, Malar flattening, Iris coloboma, ... |
ORPHA:3378 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Microphthalmia, Growth delay, Short stature, Brachycephaly, Hypogonadism, Narrow mou... |
ORPHA:2528 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Broad skull, Hypoplasia of the maxilla, Aortic valve stenosis, Broad palm, Depress... |
OMIM:277600 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Metaphyseal irregularity, Cupped ribs, Brachydactyly, Coloboma, Short phalanx o... |
ORPHA:85167 |
Microphthalmia With Limb Anomalies |
|
Cleft palate, Talipes equinovarus, Short nose, Postnatal growth retardation, Toe syndactyly, Tibi... |
OMIM:206920 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Broad nasal tip, Microphthalmia, Wide nasal bridge |
OMIM:615524 |
Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Cleft palate, Hip contracture, Talipes equinovarus, Short stature, Increase... |
ORPHA:800 |
Warburg Micro Syndrome 1 |
|
Microcornea, Optic atrophy, Micrognathia, Developmental cataract, Microphthalmia, Short stature, ... |
OMIM:600118 |
Microspherophakia-Metaphyseal Dysplasia |
|
Irregular epiphyses, Metaphyseal dysplasia, Lens coloboma, Growth delay, Lens subluxation, Short ... |
OMIM:157151 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short stature, Short n... |
ORPHA:363417 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly, Bifid nose |
OMIM:619452 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Micrognathia, Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, ... |
OMIM:616171 |
Contractural Arachnodactyly, Congenital |
|
Distal arthrogryposis, Hip contracture, Talipes equinovarus, Limited elbow extension, Camptodacty... |
OMIM:121050 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Short stature, Fifth finger distal phalanx clinodactyly, Abnormal ... |
OMIM:257850 |
Focal Dermal Hypoplasia |
|
Abnormal dental enamel morphology, Short ribs, Finger syndactyly, Iris coloboma, Camptodactyly of... |
ORPHA:2092 |
Pycnodysostosis |
|
Carious teeth, Prominent nose, Micrognathia, Delayed eruption of permanent teeth, Hypodontia, Sho... |
OMIM:265800 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Cerebral hemorrhage, Hypertension, Moyamoya phenomenon, Short stature, Az... |
ORPHA:280679 |
Non-Distal Trisomy 10Q |
|
Micrognathia, Convex nasal ridge, Depressed nasal bridge, High palate, Short stature, Brachycepha... |
ORPHA:1695 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Keratoconjunctivitis sicca, Hypertension, High, narrow palate, Narrow nose, High palate, Intraute... |
OMIM:616914 |
Focal Dermal Hypoplasia |
|
Cleft palate, Hypoplastic nipples, Oligodontia, Short stature, Short metatarsal, Midclavicular hy... |
OMIM:305600 |
Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
Warburg Micro Syndrome 4 |
|
Microcornea, Optic atrophy, Developmental cataract, Microphthalmia, Severe postnatal growth retar... |
OMIM:615663 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Depressed nasal ridge, Short nose, Microphthalmia |
OMIM:613885 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Malar flattening, Sandal g... |
ORPHA:217340 |
Pierpont Syndrome |
|
Smooth philtrum, Long upper lip, Short stature, Short nose, Malar flattening, Micropenis, Short t... |
OMIM:602342 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short stature, Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circul... |
OMIM:101800 |
Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Developmental cataract, Hypoplasia of the primary teeth, Intrauterin... |
ORPHA:90322 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Short stature, Cubitus valgus, Short nose, Camptodactyly of finger, Short toe, Ant... |
ORPHA:1327 |
Aarskog-Scott Syndrome |
|
Cleft palate, Short stature, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Megal... |
ORPHA:915 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Umbilical hernia, Ectopia lentis, Short stature, Hyperextensibility of the knee, Joint dislocatio... |
OMIM:130000 |
Short Syndrome |
|
Microdontia, Posterior embryotoxon, Hypoplasia of the iris, Malar flattening, Abnormal dental ena... |
ORPHA:3163 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Prominent nose, Micrognathia, Cleft palate, Microphthalmia, Vertebral fusion, Anophthalmia, Super... |
OMIM:221950 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Cleft palate, Talipes equinovarus, Long upper lip, Epiphyseal dysplasia, Malar fla... |
OMIM:271640 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Blue irides, Congenital hypothyroidism, Cone-shaped epiphysis, Depressed nasal bridg... |
OMIM:614613 |
Acrodysostosis |
|
Abnormality of the ulna, Short stature, Epiphyseal stippling, Short metatarsal, Short nose, Hypop... |
ORPHA:950 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, High palate, Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy... |
ORPHA:139471 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Alopecia, Malabsorption, Splen... |
ORPHA:100025 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Microphthalmia, Intrauterine growth retardation, Short stature, Hypogonadotropic hy... |
ORPHA:48431 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Short stature, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Jo... |
OMIM:614819 |
Temtamy Syndrome |
|
Thick lower lip vermilion, Abnormal palate morphology, Micrognathia, Genu varum, Convex nasal rid... |
ORPHA:1777 |
Distal Trisomy 18Q |
|
Carious teeth, Micrognathia, High palate, Large hands, Short nose, Choanal atresia, Arachnodactyl... |
ORPHA:1716 |
Desbuquois Dysplasia 1 |
|
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Talipes equinovarus, Short metatarsal, S... |
OMIM:251450 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Short... |
ORPHA:2788 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short stature, Short nose, Micropenis, Thin upper lip vermilion, Anteverted nares, Triangular mou... |
OMIM:616331 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Long phil... |
OMIM:214150 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Cleft palate, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, ... |
OMIM:616570 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Short stature, Short nose, Thin vermilion border, Abnormality of... |
ORPHA:2370 |
Stickler Syndrome |
|
Cleft palate, Short stature, Short nose, Malar flattening, Abnormal dental enamel morphology, Red... |
ORPHA:828 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Hypogonadotropic hypogonadism, Severe short stature, Central heterochromia,... |
OMIM:275400 |
Ritscher-Schinzel Syndrome 3 |
|
Poorly ossified vertebrae, Micrognathia, Chorioretinal coloboma, Microphthalmia, Epiphyseal stipp... |
OMIM:619135 |
Zika Virus Disease |
|
Wrist swelling, Macular atrophy, Intrauterine growth retardation, Ankle swelling, Lens subluxatio... |
ORPHA:448237 |
Martsolf Syndrome 1 |
|
Slender ulna, Talipes equinovarus, Short stature, Micropenis, Short toe, Hypoplasia of the maxill... |
OMIM:212720 |
Pierpont Syndrome |
|
Microcornea, Widely spaced teeth, Smooth philtrum, Microphthalmia, Long upper lip, Short finger, ... |
ORPHA:487825 |
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis |
|
Femoral bowing, Tibial bowing, High palate, Short stature, Ectopia lentis, Deep philtrum, Pursed ... |
OMIM:245160 |
Ohdo Syndrome |
|
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Short stature, Long p... |
OMIM:249620 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Short stature, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Proteus-Like Syndrome |
|
Limbal dermoid, Communicating hydrocephalus, Thymus hyperplasia, Open bite, Mandibular prognathia... |
ORPHA:2969 |
Carpenter Syndrome 1 |
|
Genu varum, Midface retrusion, Short stature, Malar flattening, Joint contracture of the hand, De... |
OMIM:201000 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Short nose, Malar flattening, Micropenis, Turricephaly, Hydrocephalus, Anteverted na... |
ORPHA:171839 |
Premature Ovarian Failure 12 |
|
Microphthalmia, Primary amenorrhea |
OMIM:616947 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Coloboma, Microphthalmia, Hypoplastic frontal sinuses, Short columella, Bifid na... |
OMIM:136760 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose... |
ORPHA:439822 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Short stature, Abnormality of the philtrum, Midshaft hypospadias, Worm... |
ORPHA:2863 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cleft palate, Microphthalmia, Short philtrum, Growth delay, Abnormality iris morp... |
ORPHA:1617 |
Weill-Marchesani Syndrome |
|
Mitral regurgitation, Ectopia lentis, Short stature, Pulmonic stenosis, Short thumb, Cataract, Li... |
ORPHA:3449 |
Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Short stature, Short metatarsal, Osteoporosis, Delayed eruption of teeth,... |
OMIM:612463 |
Sponastrime Dysplasia |
|
Hypospadias, Congenital aphakia, Metaphyseal irregularity, Short nose, Obtuse angle of mandible, ... |
ORPHA:93357 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Microphthalmia, Microdontia, Oligodontia, Malar flattening, Wide nasal bridge, Ect... |
OMIM:618727 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
|
Cleft palate, Short philtrum, Lens subluxation, Mandibular prognathia, Thick upper lip vermilion,... |
OMIM:226440 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Abnormality of the optic nerve, High, narrow palate, Talipes equinovarus, Mitral r... |
ORPHA:1101 |
Alagille Syndrome |
|
Hypertension, Micrognathia, Intrauterine growth retardation, Short philtrum, Long nose, Brachycep... |
ORPHA:52 |
Walker-Warburg Syndrome |
|
Microcornea, Abnormality of the optic nerve, Optic atrophy, Cleft palate, Microphthalmia, Retinal... |
ORPHA:899 |
Edinburgh Malformation Syndrome |
|
Micrognathia, Ulnar deviation of finger, Long fingers, Short nose, Brushfield spots, Thin vermili... |
ORPHA:1895 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Marfan Syndrome |
|
Cleft palate, Lens subluxation, Protrusio acetabuli, Limited elbow movement, Meningocele, Arthral... |
ORPHA:558 |
Lowry-Maclean Syndrome |
|
Small anterior fontanelle, Hypospadias, Cleft palate, Short nose, Hydrocephalus, Megalocornea, Hy... |
ORPHA:2409 |
Hallermann-Streiff Syndrome |
|
Malar flattening, Iris coloboma, Underdeveloped nasal alae, Micrognathia, Narrow nose, Microphtha... |
OMIM:234100 |
Pyle Disease |
|
Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... |
OMIM:265900 |
Neonatal Marfan Syndrome |
|
High, narrow palate, Micrognathia, Abnormal echocardiogram, Adducted thumb, Mitral regurgitation,... |
ORPHA:284979 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Short philtrum, Ectopia lentis, Mandibular prognathia, Abnormal dental enamel morphology, Delayed... |
ORPHA:2325 |
Baraitser-Winter Syndrome 1 |
|
Chorioretinal coloboma, Microphthalmia, Wide mouth, Long philtrum, Trigonocephaly, Cleft upper li... |
OMIM:243310 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia lentis, Mandibular prognathia, Malar flattening, Cataract, Joint stiffness,... |
ORPHA:1885 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Cleft palate, Talipes equinovarus, Short stature, Finger syndactyly, Synostosis ... |
ORPHA:1106 |
Autosomal Recessive Omodysplasia |
|
Micrognathia, Abnormality of femur morphology, Depressed nasal bridge, Short stature, Long philtr... |
ORPHA:93329 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Micrognathia, Midface retrusion, Brachycephaly, Long philtrum, Short nose, Wide na... |
OMIM:618577 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Prominent nose, Large beaked nose, Convex nasal ridge, Microphthalmia, Ectopia lentis, Wide nose,... |
OMIM:601552 |
Weill-Marchesani Syndrome 4 |
|
Short stature, Ectopia lentis, Iridodonesis, Phakodonesis, Brachydactyly |
OMIM:613195 |
Gapo Syndrome |
|
Oligospermia, Short stature, Delayed eruption of teeth, Abnormal cerebral vascular morphology, An... |
ORPHA:2067 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Carious teeth, Hypospadias, Micrognathia, Microcornea, Depressed nasal bridge, Microphthalmia, Cl... |
OMIM:616734 |
Otodental Syndrome |
|
Carious teeth, Retinal coloboma, Abnormal dental enamel morphology, Delayed eruption of teeth, Ir... |
ORPHA:2791 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Rod-cone dystrophy,... |
ORPHA:168549 |
Hydrolethalus |
|
Micrognathia, Arrhinencephaly, Microphthalmia, Anencephaly, Cleft palate, Anophthalmia, Gingival ... |
ORPHA:2189 |
Marfanoid Hypermobility Syndrome |
|
High, narrow palate, High palate, Mitral regurgitation, Ectopia lentis, Aortic regurgitation, Ara... |
OMIM:154750 |
Mmep Syndrome |
|
Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Oral cleft, Cryptorchidism, Median cl... |
ORPHA:3434 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Thickened calvaria, Depressed nasal bridge, Short... |
OMIM:103580 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Lens subluxation, Ectopia lentis, Osteoporosis, Arachnodactyly, Myocardial infarctio... |
OMIM:236200 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Polydactyly, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism,... |
OMIM:615982 |
Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Convex nasal ridge, Cleft palate, Intrauterine growth retardation, Short stature, B... |
ORPHA:2145 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Jaundice |
OMIM:312500 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cleft palate, Delayed eruption of teeth, Increased bone mineral density, Delayed cranial suture c... |
ORPHA:2780 |
Classic Homocystinuria |
|
Optic atrophy, Abnormality of retinal pigmentation, Hypertension, Intracranial hemorrhage, High p... |
ORPHA:394 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, 2-3 toe syndactyly, Adrenal insufficiency, Talipes equinovarus, Oligodontia, Short s... |
OMIM:300166 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Short stature, Short nose, Syndactyly, Bulbous nose, Camptodactyly, Umbilical hernia, Arthrogrypo... |
ORPHA:369891 |
Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Optic atrophy, Hypertension, Hypoplasia of the pri... |
ORPHA:90321 |
Holoprosencephaly |
|
Iris coloboma, Aplasia/Hypoplasia involving the nose, Brachydactyly, Hydrocephalus, Diabetes mell... |
ORPHA:2162 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Midnasal stenosis, Holoprosencephaly, Anophthalmia, Pyriform aperture stenosis, A... |
OMIM:147250 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology |
ORPHA:1104 |
Fgfr2-Related Bent Bone Dysplasia |
|
Decreased calvarial ossification, Steep acetabular roof, Short clavicles, Micrognathia, Congenita... |
ORPHA:313855 |
Stickler Syndrome Type 1 |
|
Cleft palate, Long philtrum, Abnormality of epiphysis morphology, Short nose, Joint hyperflexibil... |
ORPHA:90653 |
Microphthalmia, Syndromic 5 |
|
Microcornea, Cleft palate, Microphthalmia, Short stature, Anophthalmia, Retinal dystrophy, Optic ... |
OMIM:610125 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hip contracture, Short stature, Delayed eruption of teeth, Bulbous nose, Protr... |
OMIM:259600 |
Scheie Syndrome |
|
Depressed nasal bridge, Retinal degeneration, Mandibular prognathia, Wide nose, Aortic regurgitat... |
OMIM:607016 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Craniometadiaphyseal Dysplasia |
|
Carious teeth, Genu varum, Short stature, Cubitus valgus, Malar flattening, Abnormally large glob... |
OMIM:269300 |
Hao-Fountain Syndrome |
|
Hallux valgus, Large fontanelles, Trigonocephaly, Premature adrenarche, Micropenis, Cryptorchidis... |
OMIM:616863 |
Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Depressed nasal bridge, Myelomeningocele, Intrauterine growth retardation, Epiphys... |
ORPHA:1914 |
Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Short stature, Abnormal dental enamel morphology, Delayed... |
ORPHA:1452 |
Vacterl With Hydrocephalus |
|
Microcornea, Abnormality of the optic nerve, Micrognathia, Arrhinencephaly, Microphthalmia, Intra... |
ORPHA:3412 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Osteogenesis Imperfecta, Type Xii |
|
Brachyturricephaly, Micrognathia, High palate, Depressed nasal bridge, Short stature, Osteoporosi... |
OMIM:613849 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Retinal degeneration, Short stature, Mandibular p... |
OMIM:252600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short stature, Joint contracture of the hand, Delayed eruption of teeth, Moderately short stature... |
OMIM:612350 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
High palate, Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Meckel Syndrome |
|
Cleft palate, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Abnormal chorioretinal morphology,... |
ORPHA:564 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short middle phalanx of finger, Hip osteoarthritis, Short stature, Abnormality of epi... |
ORPHA:63442 |
Cousin Syndrome |
|
2-3 toe syndactyly, Cleft palate, Talipes equinovarus, Prominent protruding coccyx, Microglossia,... |
OMIM:260660 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Short stature, Short meta... |
OMIM:612462 |
3M Syndrome |
|
Hypospadias, Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth, Bulbous... |
ORPHA:2616 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Epiphyseal stippling, Short nose, Hypogonadism, Short dist... |
OMIM:302950 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Cleft palate, Microphthalmia, Mandibular prognathia, Cleft upper lip, Widely-spaced ... |
OMIM:601349 |
Trisomy 1Q |
|
Toe syndactyly, Cleft palate, Depressed nasal bridge, Anophthalmia, Small scrotum, Wide nose, Ara... |
ORPHA:261344 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Broad nasal tip, Short stature, External genital hypoplasia, Short toe, Bulbous nose, Postnatal g... |
OMIM:612947 |
Micro Syndrome |
|
Hypoplastic labia minora, Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Micro... |
ORPHA:2510 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microcornea, Optic atrophy, Micrognathia, Microphthalmia, Septo-optic dysplasia, Missing ribs, Ir... |
ORPHA:3301 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... |
OMIM:614188 |
Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Optic atrophy, Anterior rib cupping, Retinal degenerat... |
OMIM:602271 |
Trisomy 18 |
|
Cleft palate, Abnormal morphology of female internal genitalia, Short stature, Short nose, Iris c... |
ORPHA:3380 |
Nance-Horan Syndrome |
|
Prominent nose, Microphthalmia, Mandibular prognathia, Supernumerary tooth, Prominent nasal bridg... |
ORPHA:627 |
Short Syndrome |
|
Enlarged epiphyses, Micrognathia, Underdeveloped nasal alae, Hypodontia, Intrauterine growth reta... |
OMIM:269880 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Warburg Micro Syndrome 2 |
|
Microcornea, Hypoplastic labia majora, Optic atrophy, Developmental cataract, Microphthalmia, Bra... |
OMIM:614225 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Broad hallux phalanx, Joint contracture of the hand, Hydrocephalus, Broad hallux, De... |
OMIM:175700 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Talipes equinovarus, Retinal coloboma, Prominent protruding coccyx, Short stature, ... |
ORPHA:2839 |
Cohen Syndrome |
|
Short stature, Cubitus valgus, Aplasia/Hypoplasia of the tongue, Finger syndactyly, Iris coloboma... |
ORPHA:193 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Cholestasis, Elevated hepatic transaminase, Biliary tract abnormality, ... |
ORPHA:79168 |
Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teet... |
OMIM:619489 |
48,Xxyy Syndrome |
|
Carious teeth, Cleft palate, Abnormal dental enamel morphology, Broad jaw, Delayed eruption of te... |
ORPHA:10 |
Osteoglophonic Dysplasia |
|
Hypospadias, Pseudoarthrosis, Cloverleaf skull, Short metatarsal, Short nose, Malar flattening, A... |
OMIM:166250 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Short nose,... |
OMIM:601559 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Micrognathia, Underdeveloped nasal alae, Retinal degeneration, Intrauterine growth... |
ORPHA:166035 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
Catifa Syndrome |
|
Developmental cataract, Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth... |
OMIM:618761 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Carious teeth, Retinal calcification, Congenital hypo... |
ORPHA:93325 |
Marfan Syndrome |
|
Malar flattening, Genu recurvatum, Limited elbow extension, Protrusio acetabuli, Camptodactyly, P... |
OMIM:154700 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Brachycephaly, Metaphyse... |
OMIM:309400 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cleft palate, Microphthalmia, Failure of eruption of permanent teeth, Anophthalmia, Submucous cle... |
ORPHA:2250 |
Moebius Syndrome |
|
Talipes equinovarus, Lower limb undergrowth, Micropenis, Syndactyly, Camptodactyly, Abnormality o... |
OMIM:157900 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Cleft palate, Short stature, Short nose, Wide nasal bridge, Genu valgum, Short foot... |
OMIM:614078 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... |
OMIM:113000 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Prominent occiput, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cleft palate, Abnormality of the knee, Talipes equinovarus, Pierre-Robin sequence, Short nose, Pr... |
ORPHA:251028 |
Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Hydr... |
ORPHA:90652 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Depressed nasal bridg... |
ORPHA:2097 |
Marfanoid Habitus With Situs Inversus |
|
Lens subluxation, Mandibular prognathia, Aortic regurgitation, Arachnodactyly, Genu recurvatum, P... |
OMIM:609008 |
Oculocerebrocutaneous Syndrome |
|
Cleft palate, Microphthalmia, Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Cryptorch... |
OMIM:164180 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Hip dysplasia, Narrow nasal bridge, Cataract, Flexion contracture, Midface retrusion |
OMIM:618379 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Microphthalmia, Hydrocephalus, Hypogonadism |
ORPHA:141333 |
Duane Retraction Syndrome |
|
Cleft palate, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Hypoplas... |
ORPHA:233 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Cleft palate, Smooth philtrum, Short stature, Malar flattening, Delayed eruption o... |
OMIM:607812 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Ectopia lentis |
OMIM:272300 |
Chung-Jansen Syndrome |
|
Micrognathia, High palate, Short philtrum, Tapered finger, Long philtrum, Short nose, Thin vermil... |
OMIM:617991 |
Cerebrooculonasal Syndrome |
|
Cleft palate, High palate, U-Shaped upper lip vermilion, Brachycephaly, Anophthalmia, Solitary me... |
OMIM:605627 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Bifid scrotum, Talipes equinovarus, Short stature, Delayed eruption of teeth, Low ha... |
OMIM:619148 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Laron Syndrome |
|
Depressed nasal ridge, Micrognathia, Hypoplasia of penis, Abnormality of the elbow, Microdontia, ... |
ORPHA:633 |
Autosomal Dominant Omodysplasia |
|
Micrognathia, Bifid scrotum, Depressed nasal bridge, Long philtrum, Rhizomelia, Short nose, Malar... |
ORPHA:93328 |
Microphthalmia, Lenz Type |
|
Hypospadias, Microcornea, Chorioretinal coloboma, Microphthalmia, Short stature, Delayed eruption... |
ORPHA:568 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Micrognathia, Intrauterine growth retardation, Large fontanelles, Median c... |
ORPHA:1832 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Depressed nasal ridge, Microphthalmia, Thin ribs, Intrauterine growth retardation, Hypoplastic il... |
OMIM:300863 |
49,Xxxxy Syndrome |
|
Carious teeth, Arrhinencephaly, Cleft palate, Talipes equinovarus, Short stature, Abnormal dental... |
ORPHA:96264 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Micrognathia, Microphthalmia, Abnormality of the calcaneus, Thin ribs, Hyp... |
ORPHA:163966 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Flat occiput, Optic atrophy, Thick lower lip vermilion, Broad nasal tip, Depressed nasal bridge, ... |
OMIM:152950 |
Charge Syndrome |
|
Cleft palate, Bifid scrotum, Abnormal morphology of female internal genitalia, Short stature, Abn... |
ORPHA:138 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Telangiectasia of the ski... |
ORPHA:3019 |
Codas Syndrome |
|
Depressed nasal bridge, Short stature, Abnormality of epiphysis morphology, Short nose, Abnormal ... |
ORPHA:1458 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Short stature, Low hanging columella, Macular hypoplasia, Postnatal growth retardation, Anteverte... |
OMIM:613792 |
Roberts Syndrome |
|
Cleft palate, Phocomelia, Aplasia/Hypoplasia of the thumb, Malar flattening, Proximal placement o... |
ORPHA:3103 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Hypertrophic cardiomyopathy, Abnormal palate morphology, Thick lower lip vermilion... |
ORPHA:2701 |
Papillorenal Syndrome |
|
Microphthalmia, Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc co... |
OMIM:120330 |
Femoral-Facial Syndrome |
|
Cleft palate, Talipes equinovarus, Short stature, Short nose, Thin upper lip vermilion, Abnormali... |
ORPHA:1988 |
Odontochondrodysplasia |
|
Depressed nasal bridge, Cone-shaped epiphysis, Short stature, Bowing of the long bones, Short nos... |
ORPHA:166272 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Rothmund-Thomson Syndrome, Type 2 |
|
Talipes equinovarus, Short stature, Short nose, Delayed eruption of teeth, Agenesis of permanent ... |
OMIM:268400 |
Hallermann-Streiff Syndrome |
|
Malar flattening, Short ribs, Reduced bone mineral density, Uveitis, Choanal atresia, Underdevelo... |
ORPHA:2108 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous... |
OMIM:275595 |
Wildervanck Syndrome |
|
Meningocele, Pseudopapilledema, Lens subluxation, Fused cervical vertebrae |
ORPHA:3456 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Micrognathia, Mandibular prognathia, Optic nerve hypo... |
ORPHA:496790 |
Faciothoracogenital Syndrome |
|
Micrognathia, Smooth philtrum, Microphthalmia, Long philtrum, Prominent scrotal raphe, Thin upper... |
OMIM:227320 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypospadias, Dilated cardiomyopathy, Retinal dysplasia, Abnormal dental enamel morphology, Hydroc... |
ORPHA:2556 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short stature, Duplication of the distal phalanx of hand, Broad toe, Malar flattening, Short nose... |
OMIM:268310 |
Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Odontogenic neoplasm, Buphthalmos, Short stature, Abnormal dental enamel morpholog... |
ORPHA:534 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Hypospadias, Cleft palate, Short stature, Short metatarsal, Malar f... |
OMIM:304120 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... |
ORPHA:73272 |
Microphthalmia, Syndromic 3 |
|
Hypospadias, Microphthalmia, Vertebral fusion, Short stature, Anophthalmia, Hypogonadotropic hypo... |
OMIM:206900 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Median cleft palate, Abnormality of the fontanelles or cranial sutures, Abnormali... |
ORPHA:2432 |
Trisomy 9P |
|
Dental crowding, Brachycephaly, Abnormal pupil morphology, Bilateral single transverse palmar cre... |
ORPHA:236 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Carious teeth, Cutaneous finger syndactyly, Hypospadias, Bifid scrotum, Short stature, Short nose... |
OMIM:613026 |
Fibrochondrogenesis 1 |
|
Broad ischia, Cleft palate, Short nose, Malar flattening, Joint contracture of the hand, Short ri... |
OMIM:228520 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Microphthalmia, Growth delay, Sclerocornea, Anophthalmia, Holoprosencephaly, Iris co... |
ORPHA:77298 |
Jacobsen Syndrome |
|
Hypospadias, Short nose, Iris coloboma, Macular hypoplasia, Hydrocephalus, Anteverted nares, Micr... |
OMIM:147791 |
Kapur-Toriello Syndrome |
|
Hypoplastic labia majora, Cleft palate, Microphthalmia, Intrauterine growth retardation, Retinal ... |
OMIM:244300 |
Chromosome 16Q22 Deletion Syndrome |
|
Hypospadias, Micrognathia, High palate, Depressed nasal bridge, Growth delay, Wormian bones, Wide... |
OMIM:614541 |
3C Syndrome |
|
Hypospadias, Cleft palate, Short stature, Short nose, Finger syndactyly, Iris coloboma, Adrenal h... |
ORPHA:7 |
Sandestig-Stefanova Syndrome |
|
Developmental cataract, Convex nasal ridge, Microphthalmia, High palate, Rocker bottom foot, Intr... |
OMIM:618804 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Rhizomelia, Craniosynostosis, Multiple unerupted teeth, Severe short stature, Antev... |
ORPHA:2645 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Optic atrophy, Micrognathia, Chorioretinal coloboma, Microphthalmia, Intrauterine gr... |
ORPHA:494344 |
Dysosteosclerosis |
|
Oligodontia, Short ribs, Delayed eruption of teeth, Absent frontal sinuses, Progressive bowing of... |
OMIM:224300 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Short stature, Lateral femoral bowing... |
OMIM:311300 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Iris hypopigmentation, Camptodactyly of finger, Abnormality of the sense of sm... |
ORPHA:284160 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Narrow nose, Midface retrusion, Thin vermilion border, Wormian bones, Delayed erupt... |
OMIM:601812 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Cleft palate, Short nose, Multiple prenatal fractures, Short ribs, Micropenis, Antev... |
OMIM:616897 |
Cornelia De Lange Syndrome 5 |
|
Cleft palate, Short stature, Proximal placement of thumb, Micropenis, Postnatal growth retardatio... |
OMIM:300882 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of teeth, Femoral ... |
OMIM:264700 |
Pycnodysostosis |
|
Carious teeth, Midface retrusion, Decreased serum insulin-like growth factor 1, Obtuse angle of m... |
ORPHA:763 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Megaepiphyseal Dwarfism |
|
Inferior lens subluxation, Cleft palate, Short stature, Severe short stature |
OMIM:249230 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Genu recurvatum, Hip dislocation, Cataract, Bilateral microphthalmos, Joint laxity |
OMIM:608763 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Morm Syndrome |
|
Retinal dystrophy, Micropenis, Cataract, Retinal atrophy |
ORPHA:75858 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short nose |
ORPHA:2015 |
Coffin-Lowry Syndrome |
|
Short stature, Delayed eruption of teeth, Anteverted nares, Hypoplasia of the maxilla, Thick nasa... |
ORPHA:192 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... |
OMIM:277440 |
Mental Retardation, X-Linked 91 |
|
High palate, Cubitus valgus, Small hand, Short nose, Short 5th finger, Short foot, Clinodactyly, ... |
OMIM:300577 |
Microphthalmia, Syndromic 6 |
|
Hypospadias, Short middle phalanx of finger, Bifid scrotum, Cleft palate, Microglossia, Malar fla... |
OMIM:607932 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Smooth philtrum, Short stature, Short nose, Proximal placement of thumb, Iris colobo... |
OMIM:613406 |
Achondrogenesis Type 1B |
|
Disproportionate short stature, Micrognathia, Talipes equinovarus, Long philtrum, Short nose, Sev... |
ORPHA:93298 |
2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Cleft palate, Short stature, Abnormality of the hy... |
ORPHA:251014 |
Teebi Hypertelorism Syndrome 1 |
|
Broad palm, Depressed nasal bridge, Short stature, Long philtrum, Craniosynostosis, Small hand, S... |
OMIM:145420 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Optic atrophy, Hypodontia, Intrauterine growth retardation, Microdonti... |
OMIM:272440 |
Smith-Magenis Syndrome |
|
Cleft palate, Short stature, Short nose, Hand polydactyly, Anteverted nares, Toe syndactyly, Micr... |
ORPHA:819 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Rhizomelia, Cataract, Coloboma, Microcor... |
OMIM:615877 |
Holoprosencephaly 9 |
|
Cleft palate, Short stature, Malar flattening, Hypoplasia of the premaxilla, Micropenis, Anterior... |
OMIM:610829 |
Acrocallosal Syndrome |
|
Hypospadias, Cleft palate, Smooth philtrum, Short nose, Finger syndactyly, Micropenis, Postnatal ... |
OMIM:200990 |
Distal Monosomy 6P |
|
Smooth philtrum, Talipes equinovarus, Malar flattening, Anteverted nares, Underdeveloped nasal al... |
ORPHA:96125 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Long philtrum, Thick vermilion border, Ectopia lentis |
ORPHA:833 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Anophthalmia, Prominent nasal bridge, Bulbous nose, Anteverted nares |
ORPHA:411986 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Anteverted nares, Depressed nasal ridge, Short nose |
ORPHA:1355 |
Cenani-Lenz Syndrome |
|
Short nose, Malar flattening, Abnormal dental enamel morphology, Hypoplasia of the radius, Finger... |
ORPHA:3258 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Optic atrophy, Micrognathia, Abnormal palate morphology, Intrauterine growth retardation, Growth ... |
ORPHA:1495 |
Bresek Syndrome |
|
Plagiocephaly, Convex nasal ridge, Microphthalmia, Cleft palate, Intrauterine growth retardation,... |
ORPHA:85284 |
Achondrogenesis Type 1A |
|
Micrognathia, Long philtrum, Multiple rib fractures, Short nose, Severe short stature, Frontal bo... |
ORPHA:93299 |
14Q22Q23 Microdeletion Syndrome |
|
Short 5th metacarpal, Short stature, Malar flattening, Abnormality of the hypothalamus-pituitary ... |
ORPHA:264200 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Microphthalmia, Symphalangism affecting the phalanges of the hand, Short nose, Fron... |
ORPHA:2547 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Cleft palate, Talipes equinovarus, Short nose, Micropenis, Thin upper lip vermilion, Anteverted n... |
OMIM:300209 |
4H Leukodystrophy |
|
Optic atrophy, Hypodontia, Short stature, Hypogonadotropic hypogonadism, Abnormality of thyroid p... |
ORPHA:289494 |
Eiken Syndrome |
|
Short middle phalanx of finger, Oligodontia, Short stature, Pseudoepiphyses, Long hallux, Type A1... |
OMIM:600002 |
Odontochondrodysplasia 1 |
|
Genu varum, Short stature, Delayed eruption of teeth, Genu recurvatum, Short phalanx of finger, S... |
OMIM:184260 |
Congenital Contractural Arachnodactyly |
|
High palate, Ectopia lentis, Arthrogryposis multiplex congenita, Arachnodactyly, Flexion contract... |
ORPHA:115 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Microphthalmia, Retinal degeneration |
OMIM:251700 |
Non-Distal Trisomy 13Q |
|
Micrognathia, High palate, Long philtrum, Trigonocephaly, Short nose, Thin vermilion border, Arac... |
ORPHA:1702 |
Momo Syndrome |
|
Thick lower lip vermilion, Femoral bowing, Smooth philtrum, Chorioretinal coloboma, High palate, ... |
ORPHA:2563 |
Three M Syndrome 1 |
|
Hypospadias, Short stature, Malar flattening, Short ribs, Postnatal growth retardation, Anteverte... |
OMIM:273750 |
Bartsocas-Papas Syndrome 2 |
|
Bilateral cleft lip and palate, Popliteal pterygium, Micrognathia, Microphthalmia, Accessory oral... |
OMIM:619339 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Short philtrum, Brachycephaly, Short nose, Wormian bones, Wide nasal b... |
OMIM:601224 |
Gorlin Syndrome |
|
Carious teeth, Vertebral fusion, Brachycephaly, Mandibular prognathia, Palmar pits, Hypogonadotro... |
ORPHA:377 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Micrognathia, High palate, Hypodontia, Tapered finger, Short nose, Thick verm... |
OMIM:617061 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Metaphyseal dysplasia, Cleft palate, Talipes equinovarus, Long upper lip, Short st... |
ORPHA:536471 |
Ruvalcaba Syndrome |
|
Underdeveloped nasal alae, Narrow nose, Dental crowding, Short stature, Short metatarsal, Retinal... |
OMIM:180870 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Polydactyly, Postaxial polydactyly, Bone spicule pigmentation of the retina... |
OMIM:615986 |
Perlman Syndrome |
|
High, narrow palate, Micrognathia, Smooth philtrum, Short nose, Wide nasal bridge, Anteverted nar... |
ORPHA:2849 |
Frank-Ter Haar Syndrome |
|
Premature loss of teeth, Depressed nasal bridge, Wide mouth, Short philtrum, Mandibular prognathi... |
ORPHA:137834 |
Apert Syndrome |
|
Brachyturricephaly, Ovarian neoplasm, Cleft palate, Corneal erosion, Cloverleaf skull, Aplasia/Hy... |
ORPHA:87 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
Aarskog-Scott Syndrome |
|
Cleft palate, Elevated circulating follicle stimulating hormone level, Short stature, Short nose,... |
OMIM:305400 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cleft palate, Microphthalmia, Short stature, Retinal coloboma, Long philtrum, Short nose, Wide na... |
OMIM:618571 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Talipes equinovarus, Short nose, Malar flattening, Joint contracture of the hand... |
OMIM:193700 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Absent tibia, Bifid scrotum, Talipes equinovarus, Short metatarsal, Short nose, Prox... |
OMIM:609945 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Diastema, Patchy atrophy of the retinal pigment epitheli... |
ORPHA:436245 |
Distal Trisomy 5Q |
|
Carious teeth, Hypospadias, Micrognathia, Chorioretinal coloboma, Short stature, Long philtrum, A... |
ORPHA:96097 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cleft palate, Thin anteverted nares, Palmoplantar keratoderma, Abnormal dental ena... |
ORPHA:2710 |
Bartsocas-Papas Syndrome |
|
Toe syndactyly, Micrognathia, Popliteal pterygium, Underdeveloped nasal alae, Cleft palate, Short... |
ORPHA:1234 |
Lowry-Maclean Syndrome |
|
Cleft palate, Convex nasal ridge, Intrauterine growth retardation, Craniosynostosis, Delayed erup... |
OMIM:600252 |
Hurler Syndrome |
|
C1-C2 subluxation, Short stature, Hydrocephalus, Anteverted nares, Calvarial hyperostosis, Opacif... |
OMIM:607014 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Micrognathia, Cleft palate, Depressed nasal bridge, Pierre-Robin sequence, L... |
OMIM:604841 |
Cerebrooculonasal Syndrome |
|
Widely spaced teeth, High palate, Microdontia, U-Shaped upper lip vermilion, Brachycephaly, Anoph... |
ORPHA:66625 |
Knobloch Syndrome |
|
Depressed nasal bridge, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Joint hyperflexi... |
ORPHA:1571 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Micrognathia, High palate, Intrauterine growth retardation, Growth delay, Short stature, Short no... |
OMIM:613604 |
Mend Syndrome |
|
2-3 toe syndactyly, High palate, Polydactyly, Short stature, Long fingers, Prominent nasal bridge... |
OMIM:300960 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Microphthalmia, Metopic synostosis, Polydactyly, Palmar pits,... |
ORPHA:77301 |
Saul-Wilson Syndrome |
|
Micrognathia, Convex nasal ridge, Intrauterine growth retardation, Talipes equinovarus, Short sta... |
OMIM:618150 |
Basal Cell Nevus Syndrome |
|
Cleft palate, Short ribs, Iris coloboma, Hydrocephalus, Short 4th metacarpal, Odontogenic keratoc... |
OMIM:109400 |
Trisomy 12P |
|
Micrognathia, Cleft palate, Short stature, Large hands, Short nose, Malar flattening, Wide nasal ... |
ORPHA:1699 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma, Smooth philtrum, High palate, Short stature, Brachycephaly, ... |
OMIM:601853 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Micrognathia, Smooth philtrum, Wide mouth, Brachycephaly, Short nose, Slender nose... |
OMIM:615419 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Cleft palate, Depressed nasal bridge, Short nose, Microglossia, Short ribs, Hip dis... |
OMIM:241800 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Microphthalmia, Severe postnatal growth retardation, Wide nose, Clinodact... |
ORPHA:2399 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Retinal coloboma, Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Cataract, Cryp... |
OMIM:601794 |
Yunis-Varon Syndrome |
|
Hypospadias, Arrhinencephaly, Short middle phalanx of finger, Short stature, Short ribs, Micropen... |
ORPHA:3472 |
Marden-Walker Syndrome |
|
Hypospadias, High, narrow palate, Micrognathia, Cleft palate, Radioulnar synostosis, Microphthalm... |
OMIM:248700 |
Seckel Syndrome 1 |
|
Small anterior fontanelle, Hypospadias, Cleft palate, Abnormally large globe, 11 pairs of ribs, P... |
OMIM:210600 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Short stature, Ectopia lentis |
ORPHA:2084 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Bilateral choanal atresia, Short nose, Wide nasal bridge |
ORPHA:1200 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Abnormal palate morphology, Depressed nasal bridge, Microdontia, Ocular albinism, Choroideremia, ... |
ORPHA:2719 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Short stature, Peters anomaly, Iris coloboma, Brachydactyly, Syndactyly, Coloboma... |
OMIM:610023 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Long philtrum, Short nose, Dee... |
ORPHA:261120 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short lower limbs, Lower limb undergrowth, Disproportionate short-limb short stature, Severe shor... |
OMIM:127200 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibular prognathia, Mal... |
ORPHA:2511 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Micrognathia, Broad nasal tip, Midface retrusion, Short stature, Long philtrum, Short nose, Absen... |
OMIM:618529 |
Bardet-Biedl Syndrome 1 |
|
Rod-cone dystrophy, Foot polydactyly, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Dia... |
OMIM:209900 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Retinal degeneration, Se... |
OMIM:225755 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:79302 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Syncope, Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinoda... |
OMIM:170390 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
Maxillonasal Dysplasia |
|
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Midface retrusion, Microdontia, Open... |
ORPHA:1248 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Large fontanelles, Short stature, Delayed eruption... |
ORPHA:181393 |
Trichothiodystrophy |
|
Carious teeth, Increased bone mineral density, Umbilical hernia, Conjunctivitis, Intrauterine gro... |
ORPHA:33364 |
Mosaic Trisomy 9 |
|
Cleft palate, Talipes equinovarus, Bulbous nose, Camptodactyly of finger, Finger clinodactyly, Mi... |
ORPHA:99776 |
Mosaic Trisomy 1 |
|
Small anterior fontanelle, Cleft palate, Deviation of the 5th toe, Broad toe, Complete duplicatio... |
ORPHA:1692 |
Acromicric Dysplasia |
|
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... |
ORPHA:969 |
Temple-Baraitser Syndrome |
|
Short stature, Malar flattening, Delayed eruption of teeth, Long hallux, Anteverted nares, Thick ... |
ORPHA:420561 |
Dubowitz Syndrome |
|
Hypospadias, Short stature, Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Delaye... |
ORPHA:235 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Oligohydramnios, Postnatal growth retardation, Intrauterine growth retardation, Small placenta |
ORPHA:397590 |
Osteogenesis Imperfecta |
|
Carious teeth, Short stature, Abnormal dental enamel morphology, Noncommunicating hydrocephalus, ... |
ORPHA:666 |
Incontinentia Pigmenti |
|
Short stature, Abnormal dental enamel morphology, Cerebral ischemia, Delayed eruption of teeth, F... |
ORPHA:464 |
Sanjad-Sakati Syndrome |
|
Severe intrauterine growth retardation, Micrognathia, Congenital hypoparathyroidism, Hypoparathyr... |
ORPHA:2323 |
Norrie Disease |
|
Malar flattening, Diabetes mellitus, Remnants of the hyaloid vascular system, Abnormal chorioreti... |
ORPHA:649 |
Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Micrognathia, Toe syndactyly, Intrauterine growth retardation, Abnormality of ... |
ORPHA:1556 |
Acrocraniofacial Dysostosis |
|
Cleft palate, Triphalangeal thumb, Short stature, Short 1st metacarpal, Turricephaly, Anteverted ... |
ORPHA:949 |
Emanuel Syndrome |
|
Cleft palate, Broad jaw, Delayed eruption of teeth, Low hanging columella, Micropenis, Hydrocepha... |
ORPHA:96170 |
C Syndrome |
|
Short stature, Short nose, Fused sternal ossification centers, Accessory oral frenulum, Anteverte... |
OMIM:211750 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Elevated circulating parathyroid hormone level, Depre... |
ORPHA:94089 |
Achondrogenesis |
|
Micrognathia, Long philtrum, Abnormality of bone mineral density, Short nose, Severe short statur... |
ORPHA:932 |
Triploidy |
|
Hypospadias, Meningocele, Micrognathia, Cleft palate, Intrauterine growth retardation, Wide mouth... |
ORPHA:3376 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Short nose, Depressed nasal bridge |
OMIM:614069 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... |
ORPHA:891 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
48,Xxxy Syndrome |
|
Carious teeth, Cleft palate, Talipes equinovarus, Abnormal dental enamel morphology, Delayed erup... |
ORPHA:96263 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Short stature, Rickets, Enlargement of the wrists, Delayed eruption of teeth, Postnat... |
ORPHA:289157 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
Proboscis Lateralis |
|
Proboscis, Iris coloboma, Cyclopia, Choanal atresia, Abnormal paranasal sinus morphology, Abnorma... |
ORPHA:141099 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Long fingers, Short nose, Malar flattening, Proximal placement of thumb, Hip disl... |
OMIM:613458 |
Subaortic Stenosis--Short Stature Syndrome |
|
Opacification of the corneal stroma, Diastema, Microphthalmia, Midface retrusion, Growth delay, B... |
OMIM:271960 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal... |
ORPHA:2787 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, A... |
ORPHA:49042 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... |
OMIM:619079 |
Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, High palate, Depressed nasal bridge, Adducted thumb, Talipes equinovarus, Hand cle... |
OMIM:617822 |
Codas Syndrome |
|
Metaphyseal dysplasia, Short stature, Proximal placement of thumb, Delayed eruption of teeth, Bro... |
OMIM:600373 |
Hutchinson-Gilford Progeria Syndrome |
|
Narrow nasal tip, Mitral stenosis, Delayed eruption of teeth, Reduced bone mineral density, Rayna... |
ORPHA:740 |
Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Short lower limbs, Intracranial hemorrhage, Bowing of the legs,... |
OMIM:241500 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic sinusitis, Nasal polyposis, Ectopia lentis, Recurrent bronchitis |
OMIM:604571 |
Branchiooculofacial Syndrome |
|
Hypospadias, Cleft palate, Retinal coloboma, Malar flattening, Proximal placement of thumb, Iris ... |
OMIM:113620 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Fraser Syndrome 1 |
|
Hypospadias, Cutaneous finger syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Midline ... |
OMIM:219000 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Smooth philtrum, Depressed nasal bridge, Growth delay, Short stature, Long philtrum, Juvenile cat... |
ORPHA:438178 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Carious teeth, Congenital hypoparathyroidism, Intraut... |
ORPHA:93324 |
Chromosome 3Q29 Duplication Syndrome |
|
Abnormally large globe, Short nose, Bulbous nose, Wide nasal bridge |
OMIM:611936 |
Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Genu varum, Cleft palate, Short stature, Abnormal dental enamel morphology, Delaye... |
ORPHA:221016 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, Retina... |
OMIM:212550 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Cutaneous finger syndactyly, Bifid scrotum, Talipes equinovarus, Malar flattening, M... |
OMIM:615546 |
Donnai-Barrow Syndrome |
|
Broad nasal tip, Depressed nasal bridge, Hypoplasia of the iris, Retinal dystrophy, Short nose, M... |
OMIM:222448 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Microphthalmia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina,... |
OMIM:611040 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Corneal erosion, Short stature, Abnormal dental enamel morph... |
ORPHA:816 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia, Intrauterine growth retardation, Short statu... |
ORPHA:290 |
Cat-Eye Syndrome |
|
Microphthalmia, Chorioretinal coloboma, Intrauterine growth retardation, Short stature, Iris colo... |
ORPHA:195 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Microphthalmia, Retinal dysplasia, Hydrocephalus, Coloboma, Ocular anteri... |
ORPHA:324416 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft palate, Pierre-Robin sequence, Oligodontia, Long upper lip, Short nose, Microglossia, Bulbo... |
ORPHA:364577 |
Werner Syndrome |
|
Convex nasal ridge, Retinal degeneration, Short stature, Osteoporosis, Hypogonadism, Diabetes mel... |
OMIM:277700 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Hypospadias, Microcornea, Micrognathia, Cleft palate, Microphthalmia, Short stature, Long philtru... |
ORPHA:2505 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Short statu... |
OMIM:251270 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Pr... |
OMIM:602579 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Hypospadias, Abnormal palate morphology, Smooth philtrum, Intrauterine growth reta... |
ORPHA:1786 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Aplasia of the uterus, Cleft palate, Talipes equinovarus, Short stature, Iris colobo... |
OMIM:194190 |
Nablus Mask-Like Facial Syndrome |
|
Smooth philtrum, Hypoplastic nipples, Short nose, Joint contracture of the hand, Micropenis, Thin... |
OMIM:608156 |
Smith-Kingsmore Syndrome |
|
Smooth philtrum, Depressed nasal bridge, Wide mouth, Long philtrum, Rhizomelia, Short nose, Front... |
OMIM:616638 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Mend Syndrome |
|
2-3 toe syndactyly, Micrognathia, Microphthalmia, Cleft palate, High palate, Short stature, Long ... |
ORPHA:401973 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Adams-Oliver Syndrome 2 |
|
Optic atrophy, Micrognathia, Developmental cataract, Depressed nasal bridge, Microphthalmia, Bulb... |
OMIM:614219 |
Cockayne Syndrome B |
|
Carious teeth, Micropenis, Postnatal growth retardation, Opacification of the corneal stroma, Hyp... |
OMIM:133540 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Short stature, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shape... |
OMIM:190350 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Optic atrophy, Club-shaped distal femur, Metaphyseal dysplasia, Delayed eruption of permanent tee... |
OMIM:218400 |
Wt Limb-Blood Syndrome |
|
Micrognathia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Short thumb, Absent thumb... |
OMIM:194350 |
Mietens Syndrome |
|
Short nose, Hypoplasia of the radius, Coxa vara, Hip dislocation, Abnormality of fibula morpholog... |
ORPHA:2557 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short stature, Abnormal cortical bone morphology, Wormian bones, Patholog... |
ORPHA:166277 |
Pfeiffer Syndrome |
|
Brachyturricephaly, High palate, Elbow ankylosis, Depressed nasal bridge, Cloverleaf skull, Choan... |
OMIM:101600 |
De Barsy Syndrome |
|
Abnormal fundus fluorescein angiography, Talipes equinovarus, Short stature, Delayed eruption of ... |
ORPHA:2962 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Hypoplasia of the zygomatic bone, Short nose, Genu ... |
ORPHA:1295 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, ... |
ORPHA:363741 |
Joubert Syndrome 37 |
|
High palate, Microphthalmia, Short stature, Postaxial polydactyly, Wide nose, Wide nasal bridge, ... |
OMIM:619185 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Anteverted nares, Short nose, Depressed nasal bridge, Wide nasal bridge |
OMIM:616430 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypospadias, Depressed nasal ridge, Hypodontia, Short stature, Palmoplantar keratoderma, Delayed ... |
ORPHA:1816 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure, Abnormality of the male genitalia, Parietal foramina |
DECIPHER:34 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Epiphyseal stippling, Short distal phalanx of toe, Short nose, Postnatal growt... |
ORPHA:79345 |
Seckel Syndrome 2 |
|
Hypospadias, Prominent nose, Micrognathia, Microphthalmia, Microdontia, Growth delay, Short statu... |
OMIM:606744 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Metaphyseal irregularity, Malar flattening, Short nose, Short dental root, Bulbous no... |
OMIM:271510 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cleft palate, Malar flattening, Micropenis, Syndactyly, Adrenal hypoplasia, Hydrocep... |
OMIM:612651 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy |
OMIM:268010 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hy... |
OMIM:615981 |
Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Genu varum, Short stature, Abnormal dental enamel morphology, Delayed eruption of ... |
ORPHA:221008 |
Frank-Ter Haar Syndrome |
|
Buphthalmos, Talipes equinovarus, Abnormally large globe, Megalocornea, Thin upper lip vermilion,... |
OMIM:249420 |
Maxillonasal Dysplasia, Binder Type |
|
Short columella, Short nose, Depressed nasal bridge |
OMIM:155050 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Deviation of the 5th toe, Oligodontia, Short nose, Slender finger, Diabetes mellitus, Thin upper ... |
ORPHA:391408 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Micrognathia, Intrauterine growth retardation, Short stature, Bowing... |
ORPHA:2050 |
Craniolenticulosutural Dysplasia |
|
Carious teeth, Smooth philtrum, High palate, Microdontia, Large fontanelles, Long philtrum, Wide ... |
ORPHA:50814 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Short philtrum, Short stature, Osteoporosis, Prominent nasal bridge, Delay... |
ORPHA:71267 |
Hec Syndrome |
|
Communicating hydrocephalus, Developmental cataract, Vaginal hydrocele, Cardiomyopathy, Abnormal ... |
ORPHA:2119 |
Uveal Melanoma |
|
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... |
ORPHA:39044 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Polydactyly, Bone spicule pigmentation of the retina, Rod-... |
OMIM:615994 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Cleft palate, Bifid scrotum, Short stature, Short nose, Malar flattening, Micropenis... |
OMIM:257300 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Short nose, Micropenis, Limited elbow extension, Anteverted nares, Severe intraute... |
ORPHA:363659 |
Melnick-Needles Syndrome |
|
Micrognathia, Short clavicles, Short stature, Bowing of the long bones, Tooth malposition, Abnorm... |
ORPHA:2484 |
Distal Monosomy 10Q |
|
Cleft palate, Smooth philtrum, Short stature, Short metatarsal, Short nose, Postnatal growth reta... |
ORPHA:96148 |
Aniridia 1 |
|
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... |
OMIM:106210 |
Aymé-Gripp Syndrome |
|
Cleft palate, Oligodontia, Short stature, Short nose, Postnatal growth retardation, Hydrocephalus... |
ORPHA:1272 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Weakness of the intrinsic hand muscles, Flexion contracture |
OMIM:160565 |
Osteogenesis Imperfecta, Type Iii |
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Decreased calvarial ossification, Micrognathia, Tibial bowing, Thin ribs, Neonatal short-limb sho... |
OMIM:259420 |
Donnai-Barrow Syndrome |
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Depressed nasal bridge, Retinal dystrophy, Short nose, Iris coloboma, Abnormality of the uterus, ... |
ORPHA:2143 |
Dubowitz Syndrome |
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Carious teeth, Hypospadias, Micrognathia, Broad nasal tip, Microphthalmia, High palate, Hypoplasi... |
OMIM:223370 |
Trichorhinophalangeal Syndrome, Type Iii |
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Cone-shaped epiphyses of the middle phalanges of the hand, Underdeveloped nasal alae, Smooth phil... |
OMIM:190351 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Short stature, Retinal thinning, Epiphyseal dysplasia, Genu valgum, Narrow mouth, Cataract, Coxa ... |
OMIM:132450 |
Cleidocranial Dysplasia |
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Cleft palate, Aplastic clavicle, Malar flattening, Absent frontal sinuses, Short ribs, Moderately... |
OMIM:119600 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
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Macular atrophy, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Cystoid macular ... |
OMIM:267760 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Hypospadias, Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, ... |
OMIM:210720 |
Trisomy 17P |
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Cleft palate, Smooth philtrum, Short stature, Malar flattening, Hydrocephalus, Thick nasal alae, ... |
ORPHA:261290 |
Treacher-Collins Syndrome |
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Cleft palate, Abnormality of bone mineral density, Thyroid hypoplasia, Hypoplasia of the thymus, ... |
ORPHA:861 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Intrauterine growth retardation, Decreased palmar creases, Talipes equinovarus, Long philtrum, Sh... |
OMIM:612394 |
Miller-Dieker Lissencephaly Syndrome |
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Micrognathia, Cleft palate, Intrauterine growth retardation, Polydactyly, Short nose, Thick upper... |
OMIM:247200 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Micrognathia, Delayed eruption of permanent teeth, Microdontia, Short distal phalanx of toe, Shor... |
OMIM:619356 |
Craniofacial-Deafness-Hand Syndrome |
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Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Abnormality... |
ORPHA:1529 |
Nanophthalmos |
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Microphthalmia |
ORPHA:35612 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
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Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... |
ORPHA:2972 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |