Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
Summitt Syndrome |
|
Oxycephaly, Craniosynostosis |
OMIM:272350 |
Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
Aurocephalosyndactyly |
|
Craniosynostosis |
OMIM:109050 |
Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, Sagittal craniosynostosis |
OMIM:185900 |
Craniosynostosis 3 |
|
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Sagittal craniosyn... |
OMIM:615314 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Symphalangism, Distal |
|
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis |
OMIM:185700 |
Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Carpal bone malsegmentation |
OMIM:600593 |
Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Orbital craniosynostosis, Dolichocephaly |
ORPHA:1538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Non-Syndromic Sagittal Craniosynostosis |
|
Prominent occiput, Frontal bossing, Dolichocephaly |
ORPHA:35093 |
Craniosynostosis 2 |
|
Frontal bossing, Bicoronal synostosis, Wormian bones, Turricephaly, Craniosynostosis, Brachycepha... |
OMIM:604757 |
Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Brachycephaly,... |
OMIM:616602 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:601370 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Premature posterior fontanelle closure, Small anterior fontanelle, Lam... |
OMIM:314320 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis |
OMIM:218650 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility |
OMIM:616721 |
Hypophosphatasia, Childhood |
|
Frontal bossing, Craniosynostosis, Dolichocephaly |
OMIM:241510 |
Lowry-Maclean Syndrome |
|
Craniosynostosis |
OMIM:600252 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Multiple suture cran... |
ORPHA:3369 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Craniosynostosis 4 |
|
Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona... |
OMIM:600775 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Craniosynostosis |
OMIM:201550 |
Summitt Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly |
ORPHA:3210 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Trigonocephaly, Craniosynostosis, Scaphocephaly, Abnormal calvaria morphology, M... |
OMIM:175700 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co... |
OMIM:112240 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Brachycephaly, Lambdoidal craniosynosto... |
OMIM:618736 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Joint hypermobility |
OMIM:618906 |
Jackson-Weiss Syndrome |
|
Coronal craniosynostosis, Calcaneonavicular fusion, Midface retrusion, Craniosynostosis |
OMIM:123150 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Craniosynostosis, Scaphocephaly, Hip dislocation, Joint contracture of the hand |
OMIM:618523 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Joint hypermobility |
OMIM:147060 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis |
ORPHA:1528 |
16P13.11 Microduplication Syndrome |
|
Joint hyperflexibility, Craniosynostosis, Dolichocephaly |
ORPHA:261243 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... |
OMIM:266810 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Trigonocephaly 1 |
|
Metopic synostosis, Trigonocephaly, Craniosynostosis |
OMIM:190440 |
Cranioectodermal Dysplasia |
|
Frontal bossing, Craniosynostosis, Osteoporosis, Prominent occiput, Joint hyperflexibility, Dolic... |
ORPHA:1515 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Dolichocephaly |
ORPHA:1516 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ... |
OMIM:616294 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis |
OMIM:218670 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... |
OMIM:253250 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, Arthrogryposis... |
OMIM:618265 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Endometriosis, Unilateral renal agenesis, Long nose, Micrognathia, Vel... |
OMIM:613680 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Midface retru... |
OMIM:618577 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Capitate-hamate fusion, Radial head subluxation, Genu valgum, Knee dislocation, Patellar dislocat... |
OMIM:614078 |
Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Large fontanelles, Brachycephaly, ... |
OMIM:603116 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:380 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Craniosynostosis, Hip dislocation, Copper beaten skull, Genu varum |
OMIM:619451 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b... |
OMIM:601853 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Craniosynostosis, Large fontanelles, Brachycephaly, Radioulnar synostosis |
ORPHA:171839 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Hypophosphatasia |
|
Large fontanelles, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Craniofrontonasal Dysplasia |
|
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Brachycephaly, Plagiocephaly, Joint h... |
ORPHA:1520 |
Carpenter Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Oxycephaly, Genu valgum |
ORPHA:65759 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Brachycephaly, Craniosynostosis |
ORPHA:2145 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodact... |
ORPHA:83 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Craniosynostosis |
OMIM:614732 |
Robinow-Sorauf Syndrome |
|
Plagiocephaly, Pansynostosis, Craniosynostosis |
OMIM:180750 |
Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Muenke Syndrome |
|
Capitate-hamate fusion, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Midface retrusion |
OMIM:602849 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Unilateral renal agenesis, Endometriosis, Long nose, Abnormality of the dentition, M... |
ORPHA:363444 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Micrognathia, Cleft palate, Hypoplasi... |
OMIM:601076 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion |
ORPHA:207 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Limb joint contracture, Ankle flexion contracture, Knee flexion contracture |
ORPHA:284417 |
Muenke Syndrome |
|
Tarsal synostosis, Brachycephaly, Plagiocephaly, Carpal synostosis, Coronal craniosynostosis |
ORPHA:53271 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Turricephaly, Craniosynostosis |
ORPHA:1496 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Hartsfield Syndrome |
|
Craniosynostosis |
ORPHA:2117 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Craniosynostosis |
OMIM:619076 |
Frontoocular Syndrome |
|
Trigonocephaly, Coronal craniosynostosis |
OMIM:605321 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:123500 |
Macrocephaly-Developmental Delay Syndrome |
|
Frontal bossing, Scaphocephaly, Craniosynostosis |
ORPHA:397612 |
Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, ... |
OMIM:259700 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dolichocephaly, Sagittal cra... |
ORPHA:2872 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... |
ORPHA:2975 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Abnormal bone ossification |
ORPHA:2645 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... |
OMIM:618652 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Elbow contracture, Multiple pterygia, Craniosynostosis, Tarsal... |
OMIM:178110 |
Enlarged Parietal Foramina |
|
Parietal foramina, Craniosynostosis |
ORPHA:60015 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Craniosynostosis |
OMIM:619873 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Wide anterior fontanel, Flexion contracture, Humeroradial synostosis, Brachyceph... |
OMIM:207410 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Metopic depression, Decreased calvarial ossification, Steep acetabular roof, Coronal ... |
ORPHA:313855 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Autosomal Recessive Omodysplasia |
|
Elbow dislocation, Frontal bossing, Pterygium, Craniosynostosis |
ORPHA:93329 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Joint hypermobility |
OMIM:619056 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... |
OMIM:611134 |
Bent Bone Dysplasia Syndrome 1 |
|
Decreased calvarial ossification, Midface retrusion, Coronal craniosynostosis |
OMIM:614592 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Thick vermilion b... |
OMIM:300280 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, Nephrotic syndrome, High palate |
OMIM:269920 |
Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Brachycephaly, Craniosynostosis |
OMIM:613174 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis |
OMIM:241310 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Unossi... |
OMIM:241500 |
Marshall-Smith Syndrome |
|
Increased susceptibility to fractures, Joint hyperflexibility, Craniosynostosis, Reduced bone min... |
ORPHA:561 |
Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Osteoporosis, Small anterior fontanelle, Widely patent coronal sutu... |
ORPHA:2409 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... |
ORPHA:324410 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Calvarial skull defect, Frontal bossing, Coronal craniosynostosis, Brachycephaly |
ORPHA:228390 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis |
OMIM:616943 |
X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis |
ORPHA:163976 |
1P31P32 Microdeletion Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:401986 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Trigonocephaly, Scaphocephaly, Sagittal craniosynostosis |
OMIM:616901 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Thick lower lip vermilion, Wide nasal ... |
OMIM:239850 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Wide nasal bridge, Cleft pala... |
OMIM:616897 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Craniosynostosis |
ORPHA:2163 |
Pycnodysostosis |
|
Joint laxity, Frontal bossing, Persistent open anterior fontanelle, Increased bone mineral densit... |
ORPHA:763 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Frontal bossing, Recurrent fractures, Joint hypermobility, Craniosynostosis, Multiple... |
OMIM:245600 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
X-Linked Intellectual Disability, Cilliers Type |
|
Coronal craniosynostosis |
ORPHA:163971 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Frontal bossing, Craniosynostosis, Skull asymmetry, Limited elbow extension, Carpal b... |
OMIM:616723 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Micrognathia, Wide nasal bridge, Renal hypoplasia, Hypoplasia of the uterus,... |
OMIM:616258 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Hip subluxation, J... |
ORPHA:356961 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Osteoporosis, Anterior plagiocephaly, Bicoronal synostosis |
OMIM:619718 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Lateral displacement of patellae, Brachycephaly, Genu valgum, Lambdoid... |
OMIM:201000 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:1064 |
Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... |
ORPHA:93323 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Osteoporosis, Brachycephaly, Ankle clonus, Metopic synostosis, Lambdoidal craniosynos... |
OMIM:615398 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, A... |
ORPHA:2237 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... |
ORPHA:289176 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o... |
OMIM:154230 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility |
ORPHA:2314 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation |
OMIM:207950 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Scaphocephaly, Brachycephaly, Camptodactyly, Trigonocephaly |
ORPHA:459061 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Joint hypermobility, Sagittal craniosynostosis |
OMIM:614378 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Pfeiffer Syndrome |
|
Cloverleaf skull, Humeroradial synostosis, Coronal craniosynostosis, Brachyturricephaly, Elbow an... |
OMIM:101600 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Craniosynostosis, Dolichocephaly, Wid... |
OMIM:182212 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Parietal foramina, Wide anterior ... |
ORPHA:85199 |
8Q22.1 Microdeletion Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Craniosynostosis |
ORPHA:178303 |
Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Brachycephaly, Craniosynostosis, Midface retrusion |
ORPHA:1790 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... |
ORPHA:1908 |
X-Linked Hypophosphatemia |
|
Frontal bossing, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Coffin-Siris Syndrome 7 |
|
Trigonocephaly, Sagittal craniosynostosis |
OMIM:618027 |
Tatton-Brown-Rahman Syndrome |
|
Patellar subluxation, Talipes valgus, Sagittal craniosynostosis |
OMIM:615879 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Shallow acetabular fossae, Carpal bone hypoplasia, Craniosynostosis |
OMIM:252600 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... |
ORPHA:3097 |
Choanal Atresia |
|
Tracheomalacia, Craniosynostosis |
ORPHA:137914 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Arthrogryposis multiplex congenita, Craniosynostosis, Midface retrusion, Metopic synostosis |
OMIM:301056 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teet... |
ORPHA:2728 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... |
OMIM:614424 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Progressive flexion contractures, Craniosynostosis, Gener... |
ORPHA:93932 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Brachycephaly, Craniosynostosis |
ORPHA:254346 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Large fontanelles, Biparietal narrowing, Craniosynostosis |
ORPHA:251038 |
Pfeiffer Syndrome Type 1 |
|
Brachycephaly, Bicoronal synostosis, Midface retrusion |
ORPHA:93258 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis |
ORPHA:531151 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis |
OMIM:145420 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Curry-Jones Syndrome |
|
Craniosynostosis |
ORPHA:1553 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Midface retrusion |
ORPHA:1555 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Microdontia, Tetralogy of Fall... |
OMIM:601005 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atrium, Wide nasal brid... |
OMIM:601186 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Chromosome 10Q26 Deletion Syndrome |
|
Frontal bossing, Congenital hip dislocation, Craniosynostosis, Dolichocephaly, Limited elbow exte... |
OMIM:609625 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular acidosis, Uterus dide... |
OMIM:146255 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Pulmonic stenosis, Medullary nephrocalcinosis |
OMIM:613312 |
Acrocraniofacial Dysostosis |
|
Turricephaly, Craniosynostosis, Genu valgum |
ORPHA:949 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation |
OMIM:603194 |
Craniosynostosis And Dental Anomalies |
|
Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Sagittal craniosynostosis, ... |
OMIM:614188 |
Larsen Syndrome |
|
Craniosynostosis, Large joint dislocations, Accessory carpal bones, Joint hyperflexibility, Laryn... |
ORPHA:503 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Frontal bossing, Multiple joint contractures, Recurrent fractures, Large joint disloc... |
ORPHA:536467 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Horseshoe kidney, Cleft palate, Abnormal cardiac septum morphology, Aplasia of the ... |
ORPHA:3320 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Distal Deletion 10Q |
|
Frontal bossing, Prominent metopic ridge, Craniosynostosis, Hip dislocation, Brachycephaly |
ORPHA:96148 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism... |
ORPHA:96097 |
Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... |
ORPHA:83628 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v... |
ORPHA:289 |
Frontonasal Dysplasia 2 |
|
Craniosynostosis, Parietal foramina, Brachycephaly, Anterior plagiocephaly, Calvarial skull defect |
OMIM:613451 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Meningocele, Dandy-Walker malformation, Chiari malformation |
ORPHA:2481 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Hydrom... |
ORPHA:268810 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Craniosynostosis |
ORPHA:457193 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Platybasia, Midface retrusion, Craniosynostosis |
ORPHA:261197 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Frontal bossing, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow di... |
ORPHA:2462 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Long nose, Hypoplasia of the uterus, High palate, Short philtrum, Thic... |
OMIM:615866 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Pediatric-Onset Graves Disease |
|
Small anterior fontanelle, Craniosynostosis |
ORPHA:525731 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:166035 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Abnormality of the knee, Craniosynostosis, Hyperextensible hand join... |
ORPHA:457395 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Spina bifida, Edema, Cerebellar hypoplasia, Intrauterine growth retardation |
OMIM:616038 |
Alg3-Cdg |
|
Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation |
ORPHA:79321 |
Scarf Syndrome |
|
Joint hyperflexibility, Craniosynostosis |
ORPHA:3134 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Brachycephaly |
ORPHA:2095 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Brachycephaly, Plagiocephaly, Delayed cranial ... |
ORPHA:794 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Intrauterine growth retardation, Spina bifida |
ORPHA:1327 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous ge... |
OMIM:619879 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint dislocation, Joint laxity, Genu recurvatum, Recurrent fractures, Phalangeal dis... |
OMIM:130070 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Br... |
ORPHA:309282 |
Hamamy Syndrome |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Neck pterygia, Brachycephaly |
OMIM:611174 |
Triploidy |
|
Polyhydramnios, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation |
ORPHA:3376 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Multicystic kidney dysplasia, Unilateral renal agenesis, Micrognathia, Cry... |
OMIM:614527 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Limitation of joint mobility, Large fontanelles, Brach... |
ORPHA:1272 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Brachycephaly, Abnormality of the wrist, Elbow ankylosis, Wide anterior font... |
ORPHA:95699 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Craniosynostosis, Premature anterior fontanel closure, Hip dislocation, Limitation of... |
OMIM:252500 |
3Mc Syndrome 2 |
|
Craniosynostosis, Limited elbow movement, Hip dislocation, Radioulnar synostosis, Skull asymmetry... |
OMIM:265050 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly |
OMIM:614099 |
Distal Triplication 15Q |
|
Flexion contracture, Craniosynostosis, Camptodactyly |
ORPHA:314588 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Craniosynostosis, Generalized joint laxity, Large fontanelles, Arthr... |
ORPHA:2953 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morphology, Abnormality o... |
ORPHA:247768 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Cloverleaf skull, Flat occiput, Craniosynostosis, Limited elbow extension, Midface retrusion |
OMIM:123790 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation |
ORPHA:2311 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Tracheobronchomalacia, Joint hypermobility, Joint stiffness |
OMIM:619184 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short nose, Deep philtrum, Cardiomegaly |
OMIM:613320 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scaphocephaly, Craniosynostosis |
OMIM:616914 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatospleno... |
OMIM:608013 |
15Q Overgrowth Syndrome |
|
Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostos... |
ORPHA:314585 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Plagiocephaly, Anterior plagiocephaly |
OMIM:614749 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Camptodactyly of finger, Joint hypermobility |
OMIM:619951 |
Baller-Gerold Syndrome |
|
Bicoronal synostosis, Turricephaly, Limited elbow movement, Sagittal craniosynostosis, Craniosyno... |
OMIM:218600 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Craniosynostosis, Dolichocephaly |
OMIM:614114 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive... |
ORPHA:432 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Tented upper lip vermilion,... |
ORPHA:2729 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Wide nasal bridge, Wide mouth, Thick vermilion bor... |
ORPHA:1517 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Frontal bossing, Multiple joint contractures, Subluxation of the s... |
ORPHA:536471 |
Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Limitation of... |
ORPHA:576 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Wid... |
OMIM:617063 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Cleft palate, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Scarf Syndrome |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:312830 |
3Mc Syndrome |
|
Radioulnar synostosis, Hip dislocation, Craniosynostosis, Limited pronation/supination of forearm |
ORPHA:293843 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Narrow palate, Macroglos... |
OMIM:617022 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Plagiocephaly, Craniosynostosis |
ORPHA:453499 |
Microcephaly-Micromelia Syndrome |
|
Humeroradial synostosis, Craniosynostosis |
OMIM:251230 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Retrognathia, Hepatosplenomegaly, Hydroc... |
ORPHA:79330 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
ORPHA:42 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Craniosynostosis |
OMIM:250410 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
Slc39A8-Cdg |
|
Osteopenia, Elbow flexion contracture, Craniosynostosis, Knee flexion contracture |
ORPHA:468699 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Craniosynostosis, Midface re... |
OMIM:618050 |
Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Spina bifida |
ORPHA:1120 |
Lateral Meningocele Syndrome |
|
Hydrocephalus, Meningocele, Patent ductus arteriosus, Chiari type I malformation, Umbilical hernia |
OMIM:130720 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... |
OMIM:616546 |
Curry-Jones Syndrome |
|
Wormian bones, Bicoronal synostosis, Unicoronal synostosis |
OMIM:601707 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Cloverleaf skull, Limited elbow movement, Craniosynostosis, Elbow flexion contra... |
ORPHA:508533 |
Pontocerebellar Hypoplasia Type 7 |
|
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Wide nasal bridge, Gonadal dysgenesis, H... |
ORPHA:284339 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, M... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, M... |
ORPHA:352665 |
Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... |
ORPHA:33364 |
Marshall-Smith Syndrome |
|
Frontal bossing, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures... |
OMIM:602535 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Craniosynostosis, Tracheomalacia |
ORPHA:412069 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Seckel Syndrome |
|
Joint hyperflexibility, Craniosynostosis |
ORPHA:808 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter... |
ORPHA:90793 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Sagittal craniosynostosis, Plagiocephaly, Dolichocephaly |
OMIM:616580 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida |
ORPHA:99742 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Chiari malformation |
ORPHA:2789 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Long nose, Cryptorchidism, Deep philtrum, Gingival overgrowth, Macrog... |
OMIM:618143 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Brachycephaly, Joint hypermobility |
ORPHA:369837 |
Osteoglophonic Dysplasia |
|
Osteopenia, Frontal bossing, Cloverleaf skull, Camptodactyly of finger, Craniosynostosis, Increas... |
OMIM:166250 |
Mosaic Trisomy 9 |
|
Polyhydramnios, Spina bifida, Asplenia, Patent ductus arteriosus, Hydrops fetalis, Intrauterine g... |
ORPHA:99776 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
Lathosterolosis |
|
Meningocele, Anisopoikilocytosis, Abnormal platelet morphology, Chiari malformation, Intrauterine... |
ORPHA:46059 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
3Mc Syndrome 1 |
|
Wide anterior fontanel, Radioulnar synostosis, Skull asymmetry, Lambdoidal craniosynostosis, Coro... |
OMIM:257920 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Scaphocephaly, Elbow flexion contracture, Knee flexion contracture, Camptodacty... |
OMIM:600920 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Noonan Syndrome 3 |
|
Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Left unilambdoid synos... |
OMIM:609942 |
Acrocephalopolydactylous Dysplasia |
|
Oxycephaly, Craniosynostosis |
OMIM:200995 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Pier... |
OMIM:614921 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly |
ORPHA:391428 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent metopic ridge, Multiple joint contractures, Camptodactyly of finger, Ankle flexion cont... |
ORPHA:468631 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:168558 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Brachycephaly, Coronal craniosynostosis, Axillary pterygium |
OMIM:304110 |
7Q11.23 Microduplication Syndrome |
|
Craniosynostosis, Brachycephaly, Dolichocephaly, Tracheomalacia, Cubitus valgus, Joint hypermobility |
ORPHA:96121 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio... |
OMIM:300967 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-... |
ORPHA:228308 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Natal tooth, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel... |
ORPHA:397715 |
Cerebrooculonasal Syndrome |
|
Frontal bossing, Craniosynostosis, Brachycephaly, Proboscis |
OMIM:605627 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Iniencephaly |
|
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... |
ORPHA:63259 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary... |
ORPHA:289548 |
Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Joint contracture of the hand, Craniosynostosis, Camptodactyly |
OMIM:608156 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Oeis Complex |
|
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto... |
OMIM:258040 |
Dubowitz Syndrome |
|
Wide anterior fontanel, Delayed cranial suture closure, Craniosynostosis, Joint hyperflexibility |
ORPHA:235 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Wide anterior fontanel, Sagittal craniosynostosis |
OMIM:610199 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Retrocerebellar cyst |
ORPHA:1827 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Joint contracture of the hand, Camptodactyly |
OMIM:235510 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Frontal bossing, Prominent metopic ridge, Craniosynostosis, Wide anterior fontanel, S... |
OMIM:266920 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios |
OMIM:613776 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Hip dislocation, Elbow flexion contracture, Patellar hypoplasia, Knee flexion c... |
ORPHA:3132 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis |
OMIM:601374 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus |
OMIM:617914 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Craniosynostosis, Brachycephaly, Joint... |
OMIM:213980 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Cleft palate, Aplasia of ... |
ORPHA:2879 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip... |
OMIM:603457 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Cardio... |
OMIM:608836 |
Saethre-Chotzen Syndrome |
|
Parietal foramina, Oxycephaly, Brachycephaly, Plagiocephaly, Radioulnar synostosis, Skull asymmet... |
OMIM:101400 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small p... |
OMIM:256520 |
Arterial Tortuosity Syndrome |
|
Joint hyperflexibility, Hip dislocation, Craniosynostosis |
ORPHA:3342 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Frontal bossing, Cloverleaf skull, Craniosynostosis, Plagiocephaly, Metopic synosto... |
OMIM:613610 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t... |
ORPHA:322 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Frontal bossing, Craniosynostosis, Joint hypermobility |
OMIM:617506 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Patellar aplasia, Brachycephaly, Knee flexion... |
ORPHA:3103 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul... |
ORPHA:465508 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Cleft palate, Hypoplasia of ... |
OMIM:309801 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micrognathia, Wide nasal bridge, Renal hypoplasia, Cleft palate, Aplas... |
OMIM:614083 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, Diffi... |
ORPHA:308552 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia |
OMIM:268800 |
Opitz Gbbb Syndrome |
|
Tracheomalacia, Prominent metopic ridge, Large fontanelles, Craniosynostosis |
ORPHA:2745 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Parietal foramina, Hip dislocation, Antecubital pterygium, Patellar hypoplasia,... |
OMIM:609945 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Pseudoaminopterin Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Limited elbow movement, Dolichocephaly, Patchy reduct... |
ORPHA:221120 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Hyperlysinemia |
|
Craniosynostosis |
ORPHA:2203 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Scaphocephaly, Delayed cranial suture closure, Craniosynostosis |
OMIM:620005 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... |
OMIM:243910 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Craniosynostosis |
ORPHA:1521 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ... |
OMIM:300855 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Neu-Laxova Syndrome |
|
Polyhydramnios, Spina bifida, Cerebellar hypoplasia, Intrauterine growth retardation, Abnormal ce... |
ORPHA:2671 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema |
ORPHA:2874 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Osteoporosis, Dolichocep... |
OMIM:218330 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Craniosynostosis |
OMIM:300707 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Patellar aplasia, Joint hyperflexib... |
ORPHA:2554 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation |
ORPHA:1393 |
Yunis-Varon Syndrome |
|
Cardiomegaly, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... |
ORPHA:3472 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Flat acetabular roof, Midface retrusion, Unicoronal synostosis |
OMIM:616300 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Arboleda-Tham Syndrome |
|
Frontal bossing, Craniosynostosis, Enlarged proximal interphalangeal joints, Genu valgum, Plagioc... |
OMIM:616268 |
Trisomy 18 |
|
Spina bifida, Anencephaly, Chiari malformation, Holoprosencephaly, Intrauterine growth retardatio... |
ORPHA:3380 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Micrognathia, Nephrocalcinosis, Vesicou... |
ORPHA:904 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Eosinophilia, Spina bifida, Edema of t... |
OMIM:274000 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Aplasia of the uterus, Aplasia of the ova... |
ORPHA:69085 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Bohring-Opitz Syndrome |
|
Micrognathia, Cardiomegaly, Cleft lip, Wide nasal bridge, Cleft palate, Abnormal cardiac septum m... |
ORPHA:97297 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Craniosynostosis, Flexion contracture, Brachycephaly, Camptodactyly, Trigonocephaly |
OMIM:309590 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, High palate, Narrow mouth, Malar flattening, Broad philtrum |
ORPHA:2463 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis |
ORPHA:79396 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Thick lower lip v... |
OMIM:230000 |
Zttk Syndrome |
|
Frontal bossing, Craniosynostosis, Flexion contracture, Midface retrusion, Joint hypermobility |
OMIM:617140 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, High palate, Wide nasal bridge |
OMIM:110100 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Joint laxity, Craniosynostosis, Tracheomalacia, Joint hypermobility |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Joint laxity, Craniosynostosis, Tracheomalacia, Joint hypermobility |
ORPHA:363958 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Conical tooth, Short philtrum, High palate, Atrial septal defect, Microdontia, Hy... |
OMIM:135900 |
Limb Body Wall Complex |
|
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... |
ORPHA:2369 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
Fontaine Progeroid Syndrome |
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Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Coronal craniosynostosis, ... |
OMIM:612289 |
Estrogen Resistance |
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Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Carpenter Syndrome 2 |
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Frontal bossing, Craniosynostosis, Oxycephaly, Brachycephaly, Knee flexion contracture, Camptodac... |
OMIM:614976 |
Hennekam Syndrome |
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Camptodactyly of finger, Craniosynostosis |
ORPHA:2136 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate |
ORPHA:137675 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis... |
OMIM:618419 |
Branchioskeletogenital Syndrome |
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Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:1299 |
Focal Dermal Hypoplasia |
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Umbilical hernia, Patent ductus arteriosus, Spina bifida |
ORPHA:2092 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... |
ORPHA:581 |
Wolf-Hirschhorn Syndrome |
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Ventricular septal defect, Hypospadias, Cleft upper lip, Precocious puberty, Cryptorchidism, Micr... |
OMIM:194190 |
15q26 overgrowth syndrome |
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Craniosynostosis, Abnormal joint morphology, Camptodactyly of finger, Joint hypermobility |
DECIPHER:81 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... |
OMIM:137920 |
Hydrolethalus Syndrome 1 |
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Median cleft lip, Ventricular septal defect, Hypospadias, Bifid uterus, Micrognathia, Complete at... |
OMIM:236680 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Spina bifida, Patent ductus arteriosus, Hydrocephalus... |
ORPHA:84 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Macroglossia |
OMIM:232300 |
Gabriele-De Vries Syndrome |
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Craniosynostosis, Patellar subluxation, Distal arthrogryposis, Finger joint hypermobility, Dolich... |
ORPHA:506358 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita... |
ORPHA:90794 |
Degcags Syndrome |
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Osteopenia, Craniosynostosis, Genu valgum, Plagiocephaly, Tracheomalacia |
OMIM:619488 |
Hartsfield Syndrome |
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Craniosynostosis, Hypoplasia of the frontal bone |
OMIM:615465 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
22Q11.2 Deletion Syndrome |
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Turricephaly, Multiple suture craniosynostosis, Joint hyperflexibility, Arthritis, Patellar dislo... |
ORPHA:567 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Open mouth, Aplasia of the vagina, Unilateral renal agenesis |
ORPHA:457284 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchi... |
ORPHA:116 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Loeys-Dietz Syndrome |
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Joint dislocation, Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis |
ORPHA:60030 |
Orofaciodigital Syndrome Vi |
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Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia |
OMIM:277170 |
Ctcf-Related Neurodevelopmental Disorder |
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Osteopenia, Joint contracture of the 5th finger, Craniosynostosis, Midface retrusion |
ORPHA:363611 |
Woodhouse-Sakati Syndrome |
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Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Craniosynostosis, Camptodactyly |
OMIM:609192 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contractu... |
OMIM:610168 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Frontal bossing, Cloverleaf skull, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, ... |
OMIM:201750 |
Nail-Patella Syndrome |
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Spina bifida |
OMIM:161200 |
Waardenburg Syndrome, Type 1 |
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Myelomeningocele, Spina bifida |
OMIM:193500 |
Peters Plus Syndrome |
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Ureteral duplication, Multicystic kidney dysplasia, Thin upper lip vermilion, Hypospadias, Exagge... |
ORPHA:709 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Fused cervical vertebrae, Coronal craniosynostosis, Brachyturricephaly, Contracture of the distal... |
ORPHA:83617 |
Pagod Syndrome |
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Encephalocele, Abnormality of the spleen, Meningocele, Spina bifida |
ORPHA:991 |
Proteus Syndrome |
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Craniosynostosis, Joint stiffness, Hip dislocation, Hyperostosis, Dolichocephaly, Calvarial hyper... |
ORPHA:744 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypoplasia of the vagina, Short lingual frenulum, Micrognathia, Hypoplasia ... |
OMIM:261540 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... |
OMIM:182250 |
Vascular Ehlers-Danlos Syndrome |
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High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr... |
ORPHA:286 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari... |
ORPHA:573278 |
Cloacal Exstrophy |
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Myelomeningocele, Spina bifida |
ORPHA:93929 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthritis, Knee osteoar... |
OMIM:613795 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Thin vermilion border, ... |
OMIM:130050 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Aicardi Syndrome |
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Dandy-Walker malformation, Cerebellar vermis hypoplasia, Spina bifida, Chiari malformation |
OMIM:304050 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Doors Syndrome |
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Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Prominent occiput, Anterior plagiocephaly |
ORPHA:79500 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Frontal bossing, Sagittal craniosynostosis, Hyperextensible hand joints, Metopic synostosis, Hype... |
ORPHA:500150 |
Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida |
OMIM:109400 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Hallermann-Streiff Syndrome |
|
Spina bifida |
OMIM:234100 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, Diffi... |
ORPHA:365 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo... |
OMIM:107480 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Hypoplasia of the brainstem, Ho... |
OMIM:610828 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Knobloch Syndrome 1 |
|
Cerebellar atrophy, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spi... |
OMIM:267750 |
Vater/Vacterl Association |
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Occipital encephalocele, Spina bifida, Patent ductus arteriosus, Patent urachus, Intrauterine gro... |
OMIM:192350 |
Jacobsen Syndrome |
|
Intrauterine growth retardation, Thrombocytopenia, Spina bifida |
ORPHA:2308 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Pallister-Killian Syndrome |
|
Small scrotum, Tented upper lip vermilion, Micrognathia, Renal cyst, Atrial septal defect, Bifid ... |
OMIM:601803 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Truncus arteriosus, Spina bifida |
ORPHA:508498 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Spina bifida |
OMIM:619480 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Micr... |
OMIM:619991 |
Campomelic Dysplasia |
|
Hydrocephalus, Polyhydramnios, Spina bifida, Spinal dysraphism |
OMIM:114290 |
Microphthalmia, Syndromic 6 |
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Plagiocephaly, Brachycephaly, Lambdoidal craniosynostosis, Midface retrusion |
OMIM:607932 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Thick lower lip vermilion, Macroglossia, ... |
OMIM:256040 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly |
ORPHA:51 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Polyhydramnios, Spina bifida, Patent ductus arteriosus, Leukemia, Spina bifida ... |
OMIM:180849 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Wide nasal bridge, Polycystic ovaries, Hypoplasia o... |
ORPHA:572333 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Craniosynostosis, Bilateral camptodacty... |
ORPHA:821 |
Roberts-Sc Phocomelia Syndrome |
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Craniosynostosis, Ankle flexion contracture, Elbow flexion contracture, Brachycephaly, Knee flexi... |
OMIM:268300 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Narrow palate, Anteriorly displace... |
OMIM:276820 |
Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Otopalatodigital Syndrome, Type Ii |
|
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida |
OMIM:304120 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Osteomyelitis |
ORPHA:2968 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif... |
ORPHA:51608 |
Norrie Disease |
|
Cryptorchidism, Thin vermilion border, Malar flattening, Uterine rupture |
ORPHA:649 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Right unicoronal synostosis, Flexion contracture, Genu valgum, Camptodactyly |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Frontal bossing, Flexion contracture, Genu valgum, Camptodactyly, Right unicoronal synostosis |
ORPHA:261552 |
Chitayat Syndrome |
|
Polyhydramnios |
OMIM:617180 |