| Lentiginosis, Inherited Patterned |
|
Hypermelanotic macule |
OMIM:151001 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Hairy Palms And Soles |
|
Hypermelanotic macule |
OMIM:139650 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis, Brachycephaly, Macrocephaly, Thickened calvaria |
ORPHA:178377 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... |
OMIM:206920 |
| Summitt Syndrome |
|
Oxycephaly, Craniosynostosis |
OMIM:272350 |
| Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... |
OMIM:311895 |
| Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Chorioretinal coloboma, Microphthalmia, ... |
OMIM:611638 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis |
ORPHA:1527 |
| Aurocephalosyndactyly |
|
Craniosynostosis |
OMIM:109050 |
| Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
| Cerebrooculonasal Syndrome |
|
Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Brachycep... |
ORPHA:66625 |
| Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
| Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
| Craniosynostosis 6 |
|
Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephaly, Parietal foramina, ... |
OMIM:616602 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate,... |
OMIM:619452 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinodactyly of the 5th finge... |
OMIM:200990 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Orbital craniosynostosis, Dolichocephaly |
ORPHA:1538 |
| Craniosynostosis 3 |
|
Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Sagittal craniosyn... |
OMIM:615314 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Symphalangism, Distal |
|
Distal foot symphalangism, Distal symphalangism of hands, Craniosynostosis |
OMIM:185700 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, Sagittal craniosynostosis |
OMIM:185900 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Microcephaly |
OMIM:218650 |
| Craniosynostosis, Adelaide Type |
|
Craniosynostosis, Carpal bone malsegmentation |
OMIM:600593 |
| Down Syndrome |
|
Epicanthus, Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protru... |
ORPHA:870 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Hip subluxation, Microcephaly, Brachycephaly, Reduced bone mineral density |
OMIM:620200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Flat occiput, Brachycephaly, Microcephaly |
ORPHA:46 |
| Lowry-Maclean Syndrome |
|
Craniosynostosis, Microcephaly |
OMIM:600252 |
| 9q subtelomeric deletion syndrome |
|
Synophrys, Midface retrusion, Protruding tongue |
DECIPHER:52 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Orbital cyst, Cleft palate, Eyel... |
OMIM:164180 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Brachycephaly, Upslanted palpebral fissure, High palate, Narrow mouth, Microphthalmia |
ORPHA:2528 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Delayed closure of the anterior fontanelle, Microcephaly, Brachycephaly, Lambdoidal... |
OMIM:618736 |
| Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones |
ORPHA:2787 |
| Ring Chromosome 22 Syndrome |
|
Epicanthus, Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Dolichoce... |
ORPHA:1446 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... |
ORPHA:1104 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Summitt Syndrome |
|
Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, M... |
ORPHA:3210 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous c... |
OMIM:618106 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly,... |
OMIM:613885 |
| Hartsfield Syndrome |
|
Encephalocele, Ptosis, Telecanthus, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft pa... |
ORPHA:2117 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Skull a... |
OMIM:612938 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Epicanthus, Single transverse palmar crease, Tapered finger, Protruding tongue, Synophrys, Broad ... |
OMIM:617804 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Multiple suture cran... |
ORPHA:3369 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Single transverse palmar crease, Persistence of primary teeth, Protruding tongue, Sy... |
OMIM:610253 |
| Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Craniosynostosis, Microcephaly |
OMIM:201550 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Wormian bones, Craniosynostosis, Unicoronal synostosis, Brachyceph... |
OMIM:604757 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Humeroradial synostosis, Brachycephaly, Craniosynostosis |
OMIM:614416 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Postaxial polydactyly |
OMIM:613094 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Joint hypermobility, Microcephaly |
OMIM:618906 |
| Pierpont Syndrome |
|
Brachycephaly, Widely spaced teeth, Short palm, Prominent fingertip pads, Short toe, Deep palmar ... |
OMIM:602342 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Orbital cyst, Coloboma |
OMIM:251505 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
| Temtamy Syndrome |
|
Brachydactyly, Telecanthus, Short toe, Thick lower lip vermilion, Chorioretinal coloboma, Dolicho... |
ORPHA:1777 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Trigonocephaly, Scaphocephaly, Macrocephaly, Abnormal calvaria... |
OMIM:175700 |
| Hypophosphatasia, Childhood |
|
Frontal bossing, Craniosynostosis, Dolichocephaly |
OMIM:241510 |
| Potocki-Shaffer syndrome |
|
Parietal foramina, Delayed cranial suture closure |
DECIPHER:34 |
| Whistling Face Syndrome, Recessive Form |
|
Ptosis, Inguinal hernia, Epicanthus, Telecanthus, Shoulder flexion contracture, Narrow mouth, Whi... |
OMIM:277720 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Iris coloboma, Encephaloce... |
OMIM:605627 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Anophthalmia, Abnormal spaced incisors, Synophrys, Everted lower lip vermilion, Thic... |
ORPHA:411986 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Proximal placement of thumb, Coxa valga, Diastema, Protruding tongue, Brachycephaly,... |
OMIM:212066 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Cleft palate, Talipes equinovarus, Microphthalmia, Intrauterine growth retard... |
OMIM:616570 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Premature posterior fontanelle closure, Small anterior fontanelle, Lam... |
OMIM:314320 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Craniosynostosis, Microcephaly |
ORPHA:1528 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Pierpont Syndrome |
|
Thin upper lip vermilion, Telecanthus, Short toe, Brachycephaly, Broad philtrum, Narrow palpebral... |
ORPHA:487825 |
| Congenital Disorder Of Glycosylation, Type Iin |
|
Osteopenia, Craniosynostosis, Joint hypermobility |
OMIM:616721 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology, Median cleft palate |
ORPHA:2432 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Small hand, Antecubital pterygium, Anky... |
OMIM:619339 |
| Trisomy 13 |
|
Anophthalmia, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, ... |
ORPHA:3378 |
| Mmep Syndrome |
|
Median cleft lip, Orofacial cleft, Split foot, Triphalangeal thumb, Microphthalmia |
ORPHA:3434 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Macrocephaly, Craniosynostosis, Dolichocephaly |
ORPHA:1516 |
| Raine Syndrome |
|
Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Highly arched eyebrow, Long... |
OMIM:259775 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
| Trigonocephaly 1 |
|
Metopic synostosis, Trigonocephaly, Craniosynostosis, Microcephaly |
OMIM:190440 |
| Grant Syndrome |
|
Joint dislocation, Frontal bossing, Large fontanelles, Brachycephaly, Decreased skull ossificatio... |
ORPHA:2097 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth, Horizontal eyebr... |
OMIM:618797 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Tapered finger, Protruding tongue, Wide mouth, Upslanted palpebral fi... |
OMIM:618580 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Joubert Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Protruding tongue, Postaxial hand polydactyly, Optic disc colo... |
OMIM:213300 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Potocki-Shaffer Syndrome |
|
Turricephaly, 2-5 finger cutaneous syndactyly, Epicanthus, Single transverse palmar crease, Telec... |
OMIM:601224 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f... |
OMIM:601349 |
| Craniosynostosis 4 |
|
Sagittal craniosynostosis, Macrocephaly, Pansynostosis, Lambdoidal craniosynostosis, Metopic syno... |
OMIM:600775 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate, Coloboma, Deep palmar crease, Microphthalmia |
OMIM:600251 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly |
ORPHA:2898 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon |
OMIM:611038 |
| Microphthalmia, Isolated 8 |
|
Entropion, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal... |
OMIM:615113 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa... |
ORPHA:139471 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Protruding tongue, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, ... |
ORPHA:53351 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Frontonasal Dysplasia 1 |
|
Ptosis, Epicanthus, Median cleft lip, Postaxial hand polydactyly, Anterior basal encephalocele, P... |
OMIM:136760 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Epicanthus, Coxa valga, Tapered finger, Diastema, Protruding tongue... |
OMIM:301040 |
| Carpenter Syndrome |
|
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... |
ORPHA:65759 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal pl... |
ORPHA:93267 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Eosinophilia, Craniosynostosis, Scaphocephaly, Hip dislocation, Joint contracture of... |
OMIM:618523 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Flat occiput, Highly arched eyebrow, Protruding tongue, Synophrys, Brachycephaly... |
ORPHA:96147 |
| Non-Distal Duplication 10Q |
|
Joint hyperflexibility, Frontal bossing, Brachycephaly, Microcephaly |
ORPHA:1695 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um... |
OMIM:615297 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Inguinal hernia, Protruding tongue, Gingival overgrowth, Polydactyly, Um... |
ORPHA:93400 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Macrocephaly |
ORPHA:380 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Inguinal... |
OMIM:600325 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Prominent eyelashes, Gingival overgrowth, Upslanted palpebral fissure, Long pa... |
OMIM:619179 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Turricephaly, Recurrent fractures, Lambdoidal ... |
OMIM:616294 |
| Joubert Syndrome 10 |
|
Frontal bossing, Epicanthus, Postaxial polydactyly, Deep philtrum, Thick vermilion border, Downsl... |
OMIM:300804 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ptosis, Broad hallux, Single transverse palmar crease,... |
OMIM:617062 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Postaxial hand polydactyly, Submucous cleft hard palate, Anencephaly, G... |
ORPHA:2189 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Ptosis, Thick eyebrow, Proximal placement of thumb, Limited elbow movem... |
OMIM:300590 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Brachycephaly, Craniosynostosis |
ORPHA:314575 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Frontal bossing, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hypermobi... |
OMIM:147060 |
| Angelman Syndrome |
|
Flat occiput, Protruding tongue, Brachycephaly, Limb tremor, Wide mouth, Macroglossia, Widely spa... |
OMIM:105830 |
| Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Craniosynostosis, Wide anterior fontanel, Brachycephaly, Skull asymmetry, Wormian b... |
OMIM:601853 |
| Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Long philtrum, ... |
OMIM:613792 |
| Jackson-Weiss Syndrome |
|
Coronal craniosynostosis, Calcaneonavicular fusion, Craniosynostosis, Midface retrusion |
OMIM:123150 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| 16P13.11 Microduplication Syndrome |
|
Joint hyperflexibility, Craniosynostosis, Dolichocephaly |
ORPHA:261243 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Muenke Syndrome |
|
Ptosis, Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, C... |
OMIM:602849 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Slender long ... |
ORPHA:561 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Orofacial cleft, Wide mouth, Colobo... |
OMIM:614583 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Synophrys, Brachyce... |
OMIM:615761 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Telecanthus, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft... |
OMIM:607597 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Flat occiput, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bo... |
OMIM:214100 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Epicanthus, Coxa valga, Slender finger, Abnormality of the elbow, Brachycephaly,... |
ORPHA:163649 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Ptosis, Inguinal hernia, Epicanthus, Thick eyebrow, Decreased palmar creases, Highly arched eyebr... |
OMIM:615834 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Midface retru... |
OMIM:618577 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of finger, ... |
ORPHA:1101 |
| Trisomy 1Q |
|
Omphalocele, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalm... |
ORPHA:261344 |
| Cranioectodermal Dysplasia |
|
Frontal bossing, Craniosynostosis, Osteoporosis, Prominent occiput, Joint hyperflexibility, Dolic... |
ORPHA:1515 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Carious teeth, S... |
OMIM:617102 |
| Orofaciodigital Syndrome Iv |
|
Epicanthus, Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, ... |
OMIM:258860 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Recurrent fractures, Reduced bone mineral density, Wormian bones, Co... |
OMIM:112240 |
| Muenke Syndrome |
|
Tarsal synostosis, Brachycephaly, Plagiocephaly, Macrocephaly, Carpal synostosis, Coronal cranios... |
ORPHA:53271 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
| Craniofrontonasal Dysplasia |
|
Frontal bossing, Camptodactyly of finger, Craniosynostosis, Microcephaly, Brachycephaly, Plagioce... |
ORPHA:1520 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Highly arched eyebrow, S... |
ORPHA:2712 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Highly arched eyebrow, B... |
ORPHA:404440 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Craniosynostosis, Abnormality of thumb... |
ORPHA:1553 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
| Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Epicanthus, Sandal gap, Exaggerated cupid's bow, Brachycephaly, Downtur... |
OMIM:617752 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Craniosynostosis, Macrocephaly |
OMIM:614732 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Highly arched eyebrow, Metatarsus valgus, Radial deviation of the 2nd fi... |
ORPHA:1388 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Downslanted palpeb... |
OMIM:619981 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Turricephaly, Hypoplastic scapulae, Micromelia, Bowing of... |
OMIM:200600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Macrocephaly |
OMIM:300699 |
| Larsen-Like Syndrome |
|
Joint laxity, Frontal bossing, Joint dislocation, Wide anterior fontanel, Brachycephaly, Macrocep... |
OMIM:608545 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis |
OMIM:218550 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris colob... |
ORPHA:195 |
| Icf Syndrome |
|
Epicanthus, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia |
ORPHA:2268 |
| 3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corner... |
ORPHA:435638 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Deep philtrum, Synophrys, Short philtrum, Joint contracture of t... |
OMIM:620098 |
| Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arched eyebrow, Orofacial clef... |
OMIM:618804 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis |
OMIM:218670 |
| Macrocephaly-Developmental Delay Syndrome |
|
Frontal bossing, Scaphocephaly, Craniosynostosis, Macrocephaly |
ORPHA:397612 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Microcephaly, Multiple prenatal fractures, Platybasia, Decreased calvarial ossification, Bowing o... |
OMIM:259410 |
| Ring Chromosome 10 Syndrome |
|
Frontal bossing, Sandal gap, Aganglionic megacolon, Tapered finger, Thin vermilion border, Long p... |
ORPHA:1438 |
| Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Almond-shaped palpebral fissure, Gingival overgrowth, Opisthotonus, Long palpe... |
OMIM:620352 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Coloboma, Long eyelashes, Long philtrum... |
OMIM:615877 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, Arthrogryposis... |
OMIM:618265 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Brachycephaly, Midface retrusion |
ORPHA:1532 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Frontal bossing, Prominent metopic ridge, Microcephaly, Brachycephaly, Genu valgum,... |
OMIM:619721 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Turricephaly, Craniosynostosis, Microcephaly |
ORPHA:1496 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:601370 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Epicanthus, Abnormality of the dentition, Microphthalmia, Split hand, ... |
OMIM:157900 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Protruding tongue, Upslanted palpebral fissure, Thick vermilion border, Narrow mouth, Overlapping... |
OMIM:608779 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her... |
ORPHA:2538 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Blepharophimosis, Non-midline cleft lip, Brachycephaly, Cleft palate,... |
ORPHA:1791 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Craniosynostosis, Microcephaly |
OMIM:619076 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Epicanthus, Polydactyly, Microphthalmia, Downslanted palpebral fissures, Smooth philtrum |
OMIM:602501 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Brachycephaly, Hypoplasia of the primary teeth, 4-5 finger syndactyly, Hypoplasi... |
OMIM:257850 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Microphthalmia, Midface retrusion |
ORPHA:1135 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Epicanthus, Malabsorption, Protruding tongue |
OMIM:242860 |
| Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Craniosynostosis, Hip dislocation, Copper beaten skull, Genu varum |
OMIM:619451 |
| Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Microphthal... |
OMIM:615665 |
| Meckel Syndrome, Type 10 |
|
Frontal bossing, Occipital encephalocele, Ulnar deviation of the hand, Epicanthus, Postaxial poly... |
OMIM:614175 |
| Potocki-Shaffer Syndrome |
|
Parietal foramina, Decreased skull ossification, Brachycephaly |
ORPHA:52022 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Overlapping toe, Palpebral edema, Protruding tongue, Long upper lip, Deep p... |
ORPHA:99843 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Thin upper lip vermilion, Epicanthus, Single transverse palmar crease, Pierre-Ro... |
OMIM:613604 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Upslanted palpebral fissure, Widely spaced teeth, Long pa... |
OMIM:619694 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal tibia morphology, Deep philtrum, Synophrys, Downturned corners of mouth, Coloboma, Short... |
ORPHA:251014 |
| Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla... |
ORPHA:2717 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal thumb morphology, Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Telecanthus, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Telecanthus, Conical tooth, Abnormality of the dentition, Brachyc... |
ORPHA:228390 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Brachycephaly, Craniosynostosis |
ORPHA:2145 |
| Fontaine Progeroid Syndrome |
|
High, narrow palate, Synophrys, Brachycephaly, Anteriorly placed anus, Oligodontia, Microdontia, ... |
OMIM:612289 |
| Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Flat occiput, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, ... |
OMIM:248450 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Large fontanelles, Brachycephaly, ... |
OMIM:603116 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Brachycephaly, Cleft palate, Upper eyelid coloboma, Microphthalmia |
OMIM:613456 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Flat occiput, Protruding tongue, Tremor, Wide mouth, Widely spaced teeth |
ORPHA:98794 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitar... |
OMIM:147250 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Craniosynostosis, Large fontanelles, Brachycephaly, Radioulnar synostosis |
ORPHA:171839 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly, Coloboma |
ORPHA:141333 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia, Intrauterine growth retardation |
ORPHA:291 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Down Syndrome |
|
Epicanthus, Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tongue... |
OMIM:190685 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Scapular winging, Spina bifid... |
ORPHA:1327 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Bilateral camptod... |
OMIM:619777 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Ptosis, Epicanthus, Brachyc... |
ORPHA:264200 |
| Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... |
OMIM:605282 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Pr... |
ORPHA:284417 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Frontal bossing, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcane... |
ORPHA:163966 |
| Temtamy Syndrome |
|
Frontal bossing, Dental crowding, Highly arched eyebrow, Hip dislocation, Hypoplasia of teeth, Sh... |
OMIM:218340 |
| Monosomy 18P |
|
Ptosis, Epicanthus, Generalized dystonia, Carious teeth, Brachycephaly, Cleft palate, Downturned ... |
ORPHA:1598 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Telecanthus, Aplastic clavic... |
ORPHA:50945 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Frontal bossing, Increased bone mineral density, Flat occiput, Large fontanelles, Brachycephaly, ... |
ORPHA:2780 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Capitate-hamate fusion, Radial head subluxation, Genu valgum, Knee dislocation, Patellar dislocat... |
OMIM:614078 |
| Jackson-Weiss Syndrome |
|
Frontal bossing, Turricephaly, Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe sy... |
ORPHA:1540 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Jo... |
ORPHA:83 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Brachycephaly, Multiple suture craniosynostosis, Midface retrusion |
ORPHA:207 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft... |
OMIM:620107 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Juvenile Sialidosis Type 2 |
|
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Holoprosencephaly |
|
Anophthalmia, Flat occiput, Deep philtrum, Synophrys, Chorioretinal coloboma, Iris coloboma, Ence... |
ORPHA:2162 |
| Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Epicanthus, Thick eyebrow, Single transverse palmar cr... |
OMIM:618950 |
| Hypophosphatasia |
|
Large fontanelles, Recurrent fractures, Craniosynostosis |
ORPHA:436 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Syndactyly, Flat aceta... |
OMIM:614091 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Wormian bones, Brachy... |
OMIM:613849 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Epicanthus, Abnormality of the hand, Bilateral microphthalmos, Brachycephaly, Plagioc... |
ORPHA:369891 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Epicanthus, Tented upper lip vermilion, Broad hallux, Single transverse palmar c... |
OMIM:614105 |
| 1P31P32 Microdeletion Syndrome |
|
Frontal bossing, Craniosynostosis, Macrocephaly |
ORPHA:401986 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Joint hypermobility, Macrocephaly |
OMIM:619056 |
| Fanconi Anemia, Complementation Group S |
|
Epicanthus, Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Upslant... |
OMIM:617883 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Tapered finger... |
OMIM:309580 |
| Angelman Syndrome |
|
Flat occiput, Protruding tongue, Tremor, Wide mouth, Widely spaced teeth, Ptosis |
ORPHA:72 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Microcephaly |
ORPHA:2163 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Cleft upper lip, Duplication of phal... |
OMIM:243310 |
| Menkes Disease |
|
Joint laxity, Microcephaly, Osteoporosis, Brachycephaly, Wormian bones |
OMIM:309400 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali... |
ORPHA:970 |
| Degcags Syndrome |
|
Synophrys, High palate, Syndactyly, Hiatus hernia, Abnormal eyelash morphology, Short thumb, Thic... |
OMIM:619488 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Downslanted palpebral fissures, Postaxial polydactyly |
OMIM:612913 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Microcephaly, Large fontanelles, Brachycephaly, Abnormality of the wrist, Delayed c... |
ORPHA:2511 |
| Stevenson-Carey Syndrome |
|
Narrow mouth, Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Coloboma, Hip dy... |
OMIM:611961 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper li... |
OMIM:612530 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Wide anterior fontanel, Humeroradial synostosis, Flexion contracture, Brachyceph... |
OMIM:207410 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Telecanthus, Highly arch... |
ORPHA:313781 |
| Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... |
OMIM:601707 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Inguinal hernia, Telecanthus, Arachnodactyly, Dental crowding, Narrow mouth, Bra... |
OMIM:615539 |
| Robinow-Sorauf Syndrome |
|
Plagiocephaly, Pansynostosis, Craniosynostosis |
OMIM:180750 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of me... |
OMIM:300863 |
| Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Opisthotonus, Choreoathetosis, Protruding tongue |
OMIM:619580 |
| Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Macrocephaly |
OMIM:613174 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth |
OMIM:230600 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Microcephaly |
OMIM:616943 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Synophrys, Tracheoesophageal fistula, Cleft palate, Microphtha... |
ORPHA:261272 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, ... |
OMIM:259700 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
| Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Orofacial cleft, Eyelid coloboma, High ... |
ORPHA:141099 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Cleft ... |
ORPHA:251038 |
| 2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Narrow mouth, Brachycephaly, Cleft palate,... |
ORPHA:251019 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Orofaciodigital Syndrome V |
|
Unilateral ptosis, Frontal bossing, Thin upper lip vermilion, Median cleft lip, Sandal gap, Agang... |
OMIM:174300 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Dolichocephaly, Wormian bones, Pathologic fracture, Abnormal cortic... |
ORPHA:166277 |
| Cohen Syndrome |
|
Abnormal eyelid morphology, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, ... |
ORPHA:193 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Preaxial polydactyly, Brachycephal... |
OMIM:618142 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Coloboma, Orofacial cleft |
ORPHA:324416 |
| 8Q12 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Narrow mouth, Brachycephaly, Short foot, Everted ... |
ORPHA:228399 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Frontal bossing, Microcephaly, Brachycephaly, Plagiocephaly |
OMIM:616801 |
| Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Frontal bossing, Epicanthus, Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, Thick lowe... |
OMIM:615828 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Frontoocular Syndrome |
|
Trigonocephaly, Coronal craniosynostosis |
OMIM:605321 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis, Microcephaly |
ORPHA:163976 |
| Pseudodiastrophic Dysplasia |
|
Frontal bossing, Phalangeal dislocation, Elbow dislocation, Brachycephaly, Camptodactyly, Midface... |
OMIM:264180 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Brachycephaly, Plagiocephaly, Dolichocephaly |
ORPHA:272 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Brachycephaly, Increased susc... |
OMIM:610968 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Anal atresia, Narrow mouth |
ORPHA:3469 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Mosaic Trisomy 1 |
|
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Congenital bilateral ptosi... |
ORPHA:1692 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Achard Syndrome |
|
Joint laxity, Broad skull, Brachycephaly |
OMIM:100700 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Microcephaly, Wide anterior fontanel, Flexion contracture, Brachycephaly, Decreased skull ossific... |
OMIM:263210 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Cornelia De Lange Syndrome 5 |
|
Telecanthus, Toe syndactyly, Proximal placement of thumb, Highly arched eyebrow, Synophrys, Small... |
OMIM:300882 |
| Acrofrontofacionasal Dysostosis |
|
Ptosis, Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly,... |
ORPHA:1784 |
| Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:123500 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Brachycephaly, ... |
OMIM:619148 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Brachycephaly |
OMIM:309545 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
| Chopra-Amiel-Gordon Syndrome |
|
Microcephaly, Brachycephaly, Macrocephaly, Midface retrusion, Joint hypermobility |
OMIM:619504 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... |
ORPHA:90322 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Ptosis, Epicanthus, Telecanthus, Non-midline cleft lip, Cleft palate, B... |
ORPHA:1915 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Frontal bossing, Brachycephaly |
OMIM:264470 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Cleft... |
ORPHA:2756 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Flexion contracture, Brachycephaly, Progressive microcephaly, Microcephaly |
OMIM:620240 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate, Plagioce... |
ORPHA:85284 |
| Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Oligodontia, Prominent palatine ridges, Cau... |
OMIM:272950 |
| Cofs Syndrome |
|
Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger, Intrauterine growth retarda... |
ORPHA:1466 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Coronal craniosynostosis, Microcephaly |
ORPHA:163971 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Dolichocephaly, Sagittal cra... |
ORPHA:2872 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... |
ORPHA:2791 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Broad hallux phalanx, Toe syndactyly, Inguinal hernia, Epicanthus, Short foot, H... |
ORPHA:250989 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cleft upper lip, Blepharophimosis, Brachycephaly, Orofacial cleft, Ankyloblepharon, ... |
OMIM:229400 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Sagittal craniosynostosis, Scaphocephaly, Brachycephaly, Camptodactyly, Tr... |
ORPHA:459061 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Long eyelashes, Intention tremor, Microphthalmia, Intrauterine growth re... |
ORPHA:48431 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Brachycephaly, Ulnar devia... |
ORPHA:1387 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Brachycephaly, Microcephaly |
ORPHA:320385 |
| Parenti-Mignot Neurodevelopmental Syndrome |
|
Frontal bossing, Craniosynostosis |
OMIM:619873 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duod... |
ORPHA:2547 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Triangular mouth, Flatten... |
OMIM:607131 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia |
OMIM:278780 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Lacrimal punctal at... |
ORPHA:2399 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Plagiocephaly, Sho... |
OMIM:618089 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Frontal bossing, Epicanthus, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned ... |
OMIM:618571 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb... |
OMIM:618821 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Enlarged Parietal Foramina |
|
Parietal foramina, Craniosynostosis |
ORPHA:60015 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx, Iris coloboma, Dislocated radial h... |
ORPHA:2839 |
| Joubert Syndrome 40 |
|
Almond-shaped palpebral fissure, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Syndactyly, Mesoaxial polydactyly, Epicanthus, Hamartoma of tongue, Highly arche... |
ORPHA:2754 |
| Martsolf Syndrome 1 |
|
Osteopathia striata, Brachycephaly, High palate, Short philtrum, Finger joint hypermobility, Shor... |
OMIM:212720 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Brachycephaly, Microcephaly |
OMIM:615031 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Laterally curved eyebrow, C... |
OMIM:300166 |
| Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... |
ORPHA:2919 |
| Clark-Baraitser syndrome |
|
Frontal bossing, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Bro... |
OMIM:300602 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Elbow contracture, Craniosynostosis, Tarsal synostosis, Multip... |
OMIM:178110 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia ... |
ORPHA:364577 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Frontal bossing, Wide cranial sutures, Interphalangeal joint contrac... |
OMIM:259600 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Acrofrontofacionasal Dysostosis 1 |
|
Ptosis, Short metacarpal, Long eyebrows, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth... |
OMIM:201180 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Prominent metopic ridge, Brachycephaly, Microcephaly |
OMIM:618862 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly, Microcephaly |
OMIM:309541 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Brachycephaly, Coloboma, High palate, Clinodactyly... |
OMIM:607932 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
ORPHA:1473 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Brachycephaly, Talipes equinovarus, Long philtrum, Ptosis |
OMIM:619972 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p... |
OMIM:614815 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Thin vermilion border, Narrow mouth, Microphthalmia, Ptosis |
OMIM:600118 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Microphthalmia, Downslanted palpebral fissures, Broad thum... |
OMIM:614526 |
| Marden-Walker Syndrome |
|
Ptosis, Inguinal hernia, Epicanthus, Arachnodactyly, High, narrow palate, Narrow mouth, Pyloric s... |
OMIM:248700 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Joint contracture, Brachycephaly, Microcephaly |
OMIM:615419 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus, Intrauterine growth retardation |
OMIM:616171 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Proximal placement of thumb, Brachycephaly, Plagiocephaly, High palate, Short philtru... |
OMIM:615433 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Brachycephaly,... |
OMIM:618828 |
| Cebalid Syndrome |
|
Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion |
OMIM:618774 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Wide anterior fontanel, Thin calvarium, Macrocephaly,... |
ORPHA:85184 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Coloboma, Microphthalmia |
OMIM:610125 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microm... |
ORPHA:440354 |
| Osteoglosphonic Dysplasia |
|
Craniosynostosis, Abnormal bone ossification |
ORPHA:2645 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Frontal bossing, Tarsal synostosis, Parietal foramina, Wide anterior ... |
ORPHA:85199 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| 6Q25 Microdeletion Syndrome |
|
Epicanthus, Rocker bottom foot, Camptodactyly of finger, Cleft palate, Plagiocephaly, Upslanted p... |
ORPHA:251056 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Long fingers, Brachycephaly, Cleft palate, Upslanted palpebral fissure, High palate, ... |
OMIM:156610 |
| Autosomal Recessive Omodysplasia |
|
Elbow dislocation, Frontal bossing, Pterygium, Craniosynostosis |
ORPHA:93329 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Craniosynostosis, Microcephaly, Osteoporosis, Small anterior fontanelle, Widely paten... |
ORPHA:2409 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Telecanthus, Sparse eyelashes, Craniosynostosis, Conical tooth, Parietal foramina,... |
OMIM:613451 |
| German Syndrome |
|
Camptodactyly of finger, Limitation of joint mobility, Brachycephaly, Dolichocephaly, Arthrogrypo... |
ORPHA:2077 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate,... |
OMIM:251230 |
| Bent Bone Dysplasia Syndrome 1 |
|
Decreased calvarial ossification, Midface retrusion, Coronal craniosynostosis |
OMIM:614592 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Microglossia, Microdontia |
OMIM:606744 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Epicanthus, Bilateral microphthalmos, Thick lower lip... |
ORPHA:2563 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Tapered finger, Small hand, Brachycephaly, Prominent occiput, Plagiocephaly, Hip dysplasia, Downt... |
OMIM:618672 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microphthalmia, Iris ... |
ORPHA:899 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Brachycephaly, High palate, Clinodactyly of th... |
OMIM:201000 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Camptodactyly of finger, Blepharophimosis, Adducted thumb, Flared metaphysis,... |
OMIM:610758 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, Brachycephaly, Choreoathetos... |
OMIM:234100 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Frontal bossing, Craniosynostosis, Microcephaly, Skull asymmetry, Limited elbow exten... |
OMIM:616723 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place... |
OMIM:305600 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Microcephaly,... |
ORPHA:1798 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... |
OMIM:608670 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma |
OMIM:274270 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Osteoporosis, Brachycephaly, Macrocephaly, Ankle clonus, Metopic synostosis, Lambdoid... |
OMIM:615398 |
| Frontorhiny |
|
Encephalocele, Ptosis, Epicanthus, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Ba... |
ORPHA:391474 |
| Lujan-Fryns Syndrome |
|
Joint hyperflexibility, Brachycephaly, Camptodactyly of finger, Macrocephaly |
ORPHA:776 |
| Ohdo Syndrome, X-Linked |
|
High palate, Widely spaced teeth, Microdontia, Hiatus hernia, Sparse eyebrow, Short thumb, Narrow... |
OMIM:300895 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Frontal bossing, Dolichocephaly, Limited elbow extension, Elbow flex... |
OMIM:121050 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... |
OMIM:620269 |
| Pentasomy X |
|
Camptodactyly of finger, Small hand, Plagiocephaly, Short foot, Radioulnar synostosis, Hip dyspla... |
ORPHA:11 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Conical tooth, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, Microdontia, Exag... |
OMIM:619293 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... |
OMIM:617895 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Large fontanelles, Brachycepha... |
OMIM:219150 |
| Joubert Syndrome 14 |
|
Encephalocele, Epicanthus, Tented upper lip vermilion, Postaxial polydactyly, Highly arched eyebr... |
OMIM:614424 |
| Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Microcephaly, Multiple prenatal fractures, Flexion contracture, Bra... |
OMIM:616897 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Coloboma, Triphalangeal thumb, Chorioretinal coloboma, Iris coloboma, Hypo... |
ORPHA:959 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo... |
OMIM:618727 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Brachycephaly, Microcephaly |
ORPHA:93950 |
| 8Q22.1 Microdeletion Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Craniosynostosis, Microcephaly |
ORPHA:178303 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Hyperext... |
OMIM:610967 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Metopic depression, Decreased calvarial ossification, Steep acetabular roof, Coronal ... |
ORPHA:313855 |
| Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Secondary microcephaly, Camptodactyly, Joint contracture of the hand, Midface retr... |
OMIM:179613 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Blepharophimosis, Absent radius, Aplasia... |
ORPHA:1352 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Brachycephaly, Microcephaly |
OMIM:618603 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypo... |
OMIM:603671 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Trigonocephaly, Scaphocephaly, Sagittal craniosynostosis |
OMIM:616901 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Malformed lacrimal duct, Cutaneou... |
OMIM:219000 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Highly arched eyebro... |
OMIM:239300 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Hip dysplasia, Polydac... |
ORPHA:531151 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of t... |
ORPHA:284160 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Frontal bossing, Genu recurvatum, Craniosynostosis, Dolichocephaly, Mic... |
OMIM:182212 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Acrofrontofacionasal Dysostosis 2 |
|
Wide anterior fontanel, Brachycephaly, Microcephaly |
OMIM:239710 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Abnormality ... |
ORPHA:2988 |
| Parietal Foramina 1 |
|
Parietal foramina, Wormian bones, Macrocephaly |
OMIM:168500 |
| Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Wormian bones, Recurrent fractures, Severe generalized osteoporosis, Protrusio a... |
OMIM:259420 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Cooper-Jabs Syndrome |
|
Frontal bossing, Camptodactyly of finger, Brachycephaly, Reduced bone mineral density, Joint hype... |
ORPHA:1488 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Tremor, Wide mouth, Thin vermilion border, Hig... |
ORPHA:544254 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Absent eyebrow, Epicanthus, Flat occiput, Arachnodactyly, Telecanthus, Blepharophimosis, High, na... |
ORPHA:2707 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Sandal gap, Highly arched eyebrow, Long philtrum |
OMIM:300887 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Coloboma, Everted lower ... |
OMIM:616789 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Iris coloboma |
ORPHA:77298 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia,... |
OMIM:617866 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, High, narrow palate, Short philtrum,... |
ORPHA:464738 |
| Tatton-Brown-Rahman Syndrome |
|
Patellar subluxation, Talipes valgus, Sagittal craniosynostosis, Macrocephaly |
OMIM:615879 |
| Pelger-Huet Anomaly |
|
Frontal bossing, Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polyd... |
OMIM:169400 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Brachycephaly, Microcephaly |
ORPHA:352530 |
| Arthrogryposis, Distal, Type 5D |
|
Ptosis, Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Highly arched eyebrow... |
OMIM:615065 |
| Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
| Fraser Syndrome |
|
Anophthalmia, Dental crowding, Orofacial cleft, Malformed lacrimal duct, High palate, Cryptophtha... |
ORPHA:2052 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palat... |
ORPHA:2250 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Epicanthus, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Al Kaissi Syndrome |
|
Thin upper lip vermilion, Torticollis, Epicanthus, Macrodontia, Telecanthus, High, narrow palate,... |
OMIM:617694 |
| Joubert Syndrome 37 |
|
Frontal bossing, Postaxial polydactyly, High palate, Microphthalmia, Ptosis |
OMIM:619185 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Hypophosphatasia, Infantile |
|
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Unossi... |
OMIM:241500 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Thin upper lip vermilion, Epicanthus, Flat occiput, Deep philtrum, Thick lower lip vermilion, Ups... |
OMIM:152950 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Brachycephaly, Coxa vara, Clinodactyly of the 5th fin... |
OMIM:614701 |
| Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
| Kury-Isidor Syndrome |
|
Frontal bossing, Finger syndactyly, Tented upper lip vermilion, Ptosis, Rocker bottom foot, Proxi... |
OMIM:619762 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Epicanthus, Microdontia, Microphthalmia, Synostosis of carpal bones, Bilateral s... |
ORPHA:3191 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Brachycephaly |
OMIM:618859 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Umbilical ... |
OMIM:618914 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Postaxial hand polydactyly, Agenesis of in... |
OMIM:610829 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Frontal bossing, Syndactyly, Inguinal hernia, Cleft palate, Short 5th finger, Polydactyly, Ectrod... |
ORPHA:397590 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Spina bifida, Esophageal atresia, Hypoplasia of the radius, Hip di... |
ORPHA:3412 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Ulnar bowing, Shortening... |
OMIM:619135 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Carious teeth, Elbow flexion contractu... |
OMIM:214150 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Brachycephaly, Short philtrum, Bilateral coxa valga, Short phalanx of finger, B... |
ORPHA:439822 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Frontal bossing, Brachycephaly, Microcephaly |
OMIM:617364 |
| Hypomandibular Faciocranial Dysostosis |
|
Trigonocephaly, Brachycephaly, Craniosynostosis, Midface retrusion |
ORPHA:1790 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis |
OMIM:241310 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia, Choreoathetosis, Dystonia |
OMIM:308350 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Osteogenesis Imperfecta, Type Xx |
|
Microcephaly, Multiple prenatal fractures, Brachycephaly, Plagiocephaly, Wormian bones, Midface r... |
OMIM:618644 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... |
OMIM:607323 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Microcephaly, Hip ... |
ORPHA:356961 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Frontal bossing, Telecanthus, Camptodactyly of finger, Lip pit, Tapered finger, Brachycephaly, Hy... |
ORPHA:1236 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... |
ORPHA:1507 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
| Coffin-Siris Syndrome 6 |
|
Frontal bossing, Epicanthus, High, narrow palate, Deep philtrum, Cleft palate, Plagiocephaly, Nar... |
OMIM:617808 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Brachycephaly, Progressive microcephaly |
OMIM:608027 |
| Pfeiffer Syndrome |
|
Cloverleaf skull, Humeroradial synostosis, Coronal craniosynostosis, Brachyturricephaly, Elbow an... |
OMIM:101600 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
| Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, High, narrow palate, Synophrys, Brachycephaly, High palate, Short ph... |
OMIM:613776 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, L... |
ORPHA:137634 |
| Cleidocranial Dysplasia |
|
Frontal bossing, Recurrent fractures, Osteoporosis, Brachycephaly, Large fontanelles, Genu valgum... |
ORPHA:1452 |
| Acrocraniofacial Dysostosis |
|
Turricephaly, Craniosynostosis, Microcephaly, Genu valgum, Spina bifida occulta |
ORPHA:949 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Brachycephaly |
ORPHA:1514 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, De... |
OMIM:616362 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Preaxial... |
ORPHA:564 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Brachycephaly, Joint hypermobility, Microcephaly |
ORPHA:3306 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis... |
ORPHA:90652 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Craniosynostosis, Microcephaly, Metopic synostosis, Macrocephaly, Arthrogryposis multiplex congen... |
OMIM:301056 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Flat occiput, Arachnodactyly, ... |
ORPHA:505237 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Cl... |
OMIM:611134 |
| Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic iliac wing, Pterygium, Short phalanx of f... |
OMIM:263650 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Brachycephaly, Abnormal shape of the occiput, Brachyturricephaly, Midface retrusion |
OMIM:218350 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Epicanthus, Overlapping toe, High, narrow palate, Cleft palate, Anterio... |
OMIM:618494 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Blepharophimosis... |
OMIM:141300 |
| Pycnodysostosis |
|
Joint laxity, Frontal bossing, Increased bone mineral density, Persistent open anterior fontanell... |
ORPHA:763 |
| Kapur-Toriello Syndrome |
|
Single transverse palmar crease, Camptodactyly of finger, Cleft upper lip, Intestinal malrotation... |
OMIM:244300 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue,... |
ORPHA:989 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Epicanthus, Single transverse palmar crease, 2-3 toe... |
OMIM:616449 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:1064 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Frontal bossing, Crumpled long bones, Metaphyseal widening, Microphthalmia, Abnormal femoral neck... |
ORPHA:2788 |
| 2Q23.1 Microdeletion Syndrome |
|
Tented upper lip vermilion, Sandal gap, Macrodontia, Highly arched eyebrow, Synophrys, Brachyceph... |
ORPHA:228402 |
| Cranioectodermal Dysplasia 4 |
|
Frontal bossing, Joint hypermobility, Sagittal craniosynostosis |
OMIM:614378 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Brachycephaly, Craniosynostosis, Microcephaly |
ORPHA:254346 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... |
OMIM:259440 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Spina bifida oc... |
OMIM:617360 |
| Distal Deletion 3P |
|
Ptosis, Inguinal hernia, Epicanthus, Telecanthus, Blepharophimosis, Postaxial hand polydactyly, B... |
ORPHA:1620 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Epicanthus, Exaggerated cupid's bow, Cleft palate, Downturned corne... |
OMIM:614230 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners... |
OMIM:613443 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Inguinal hernia, Epicanthus, Brachycephaly, Symphalangism affecting the phalange... |
ORPHA:1292 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Plagiocephaly, Craniosynostosis, Microcephaly |
ORPHA:457193 |
| 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 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Tented upper lip vermilion, Single transverse palmar crease, Deep philtrum, Downturned corners of... |
OMIM:619720 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Platybasia, Midface retrusion, Craniosynostosis, Macrocephaly |
ORPHA:261197 |
| Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Downturned corners of mouth, Coloboma, Microphthalmia, Abnormality of the palmar crea... |
OMIM:618652 |
| Joubert Syndrome 27 |
|
Frontal bossing, Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Overlapping toe, Down-sloping shoulders, Highly arched ey... |
OMIM:617452 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, High palate, Clinoda... |
ORPHA:3103 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hyperflexib... |
ORPHA:2314 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Ptosis, Abnormal palmar dermatoglyphics, Blepharophimosis, Cleft palate, Hypoplasia of teeth, Wid... |
ORPHA:2728 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Microcephaly, Achilles tendon contracture, Flexion contracture, Hip dislocation,... |
OMIM:301041 |
| Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Ptosis, Epicanthus, Hip dysplasia, Chorioretinal coloboma, Blepharophimosis, Mic... |
ORPHA:494344 |
| Trisomy 18 |
|
Iris coloboma, Bilateral single transverse palmar creases, Spina bifida, Esophageal atresia, Devi... |
ORPHA:3380 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Single transverse palmar crease, Limited elbow movement, Proximal placement of thu... |
OMIM:610759 |
| Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
| Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Tremor, Widely spa... |
ORPHA:90321 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Brachycephaly, Plagiocephaly, Macrocephaly, Midface retrusion |
OMIM:618430 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Thin upper lip vermilion, Tremor, Thick lower lip vermilion, Wide mouth, Long philtru... |
ORPHA:1942 |
| Hamamy Syndrome |
|
Brachycephaly, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tapered finger,... |
OMIM:611174 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Orofaciodigital Syndrome Type 1 |
|
Tremor, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnorma... |
ORPHA:2750 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Progressive flexion contractures, Craniosynostosis, Gener... |
ORPHA:93932 |
| Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Bilateral cleft lip and palate, Upslanted palpebral fissure... |
ORPHA:2001 |
| Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Inguinal hernia, Overlapping toe, Single transverse pa... |
OMIM:613884 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Pierre-Robin s... |
OMIM:192445 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Osteoporosis, Anterior plagiocephaly, Bicoronal synostosis |
OMIM:619718 |
| Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Polydactyly |
OMIM:614465 |
| Fetal Trimethadione Syndrome |
|
Microcephaly, Brachycephaly, Midface retrusion |
ORPHA:1913 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Xq28 (MECP2) duplication |
|
Brachycephaly, Microcephaly |
DECIPHER:45 |
| Desanto-Shinawi Syndrome |
|
Brachycephaly, Midface retrusion |
OMIM:616708 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Hip dislocation, Brachycephaly, Microcephaly |
OMIM:608776 |
| Coffin-Siris Syndrome 7 |
|
Trigonocephaly, Sagittal craniosynostosis |
OMIM:618027 |
| Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus |
OMIM:617255 |
| Trisomy 20P |
|
Brachycephaly, Downturned corners of mouth, Short philtrum, Microdontia, Finger syndactyly, Spina... |
ORPHA:261318 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Ptosis, Epicanthus, Arachnodactyly, Optic nerve hypoplasia, Telecanthus... |
OMIM:612513 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
| Anauxetic Dysplasia 3 |
|
Broad eyebrow, Short metacarpal, Brachydactyly, Hip subluxation, Squared iliac bones, Femoral bow... |
OMIM:618853 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
| Monosomy 9P |
|
Epicanthus, Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal ... |
ORPHA:261112 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Bilateral ... |
OMIM:618874 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Small hand, Short foot, Thin vermilion border, Severe ... |
OMIM:241410 |
| Choanal Atresia |
|
Tracheomalacia, Craniosynostosis |
ORPHA:137914 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Crowded maxillary incisors, Abnormal femur morphology, Upper limb asymmetry, Abn... |
ORPHA:2063 |
| Chromosome 10Q26 Deletion Syndrome |
|
Frontal bossing, Congenital hip dislocation, Craniosynostosis, Microcephaly, Dolichocephaly, Limi... |
OMIM:609625 |
| Gracile Bone Dysplasia |
|
Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ankyloglossia, Brachydactyly |
OMIM:602361 |
| Cranioectodermal Dysplasia 3 |
|
Frontal bossing, Telecanthus, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polyda... |
OMIM:614099 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Epicanthus, Hemidystonia, Tapered finger, Tremor, Submucou... |
OMIM:619680 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
| Distal Deletion 10Q |
|
Frontal bossing, Prominent metopic ridge, Craniosynostosis, Microcephaly, Hip dislocation, Brachy... |
ORPHA:96148 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... |
OMIM:268310 |
| Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Fused teeth, High palate, Widely spaced teeth, Microdontia, Syndactyly, Clover... |
OMIM:613610 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Downturned corners of mouth, W... |
OMIM:619539 |
| Trichothiodystrophy 3, Photosensitive |
|
Eclabion, Natal tooth, Ectropion, Carious teeth, Pyloric stenosis, Trigonocephaly, Microphthalmia... |
OMIM:616395 |
| Galloway-Mowat Syndrome 1 |
|
Ptosis, Epicanthus, Flat occiput, Dystonia, Hiatus hernia, Slender finger, Hypoplasia of the iris... |
OMIM:251300 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy |
ORPHA:496689 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Cleft l... |
OMIM:616894 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick lower lip vermilion, Dental maloccl... |
OMIM:157980 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Midface retrusion |
ORPHA:1555 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Plagiocephaly, Anterior plagiocephaly, Microcephaly |
OMIM:614749 |
| Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Tremor, Focal dystonia, Limb dystonia, Oromandibular dystonia |
ORPHA:216873 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Ptosis, Abnormal morphology of... |
ORPHA:570 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Clinodactyly of the 5th fi... |
OMIM:616580 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Protruding tongue |
ORPHA:258 |
| Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Epicanthus, Arachnodactyly, Hiatus hernia, Narrow mouth, Hip dislocation, High p... |
OMIM:617729 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Macrocephaly |
OMIM:601356 |
| Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Shallow acetabular fossae, Carpal bone hypoplasia, Craniosynostosis |
OMIM:252600 |
| Beck-Fahrner Syndrome |
|
Microcephaly, Brachycephaly, Joint hypermobility, Macrocephaly |
OMIM:618798 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Postaxial polydactyly, Abnormally large globe, Long palpebral fissure, Ptosis |
OMIM:603387 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology |
ORPHA:166100 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Torticollis, Single transverse palmar crease, Cranial asymmetry,... |
OMIM:609128 |
| Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Ankyloblepharon, Tibial bowing... |
OMIM:612651 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Cleft palate, Fing... |
ORPHA:306542 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
| Treacher-Collins Syndrome |
|
Brachycephaly, Glossoptosis, Eyelid coloboma, High palate, Iris coloboma, Encephalocele, Branchia... |
ORPHA:861 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... |
ORPHA:2092 |
| Holzgreve Syndrome |
|
Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand p... |
ORPHA:2167 |
| 20Q11.2 Microduplication Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Epicanthus, Palpebral edema, Tented philtrum, Brachy... |
ORPHA:363659 |
| Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft ... |
OMIM:109400 |
| Craniosynostosis And Dental Anomalies |
|
Frontal bossing, Prominent metopic ridge, Flat occiput, Turricephaly, Sagittal craniosynostosis, ... |
OMIM:614188 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresia |
OMIM:619318 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... |
OMIM:164200 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Wormian bones, Th... |
OMIM:619795 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Brachycephaly |
ORPHA:2095 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Brachycephaly, Cleft palate, Eyelid coloboma, Downslanted palpebral fissures, Pa... |
OMIM:268850 |
| Jacobsen Syndrome |
|
Ptosis, Epicanthus, Flat occiput, Telecanthus, Abnormal eyelash morphology, Pyloric stenosis, Nas... |
OMIM:147791 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Microcephaly |
OMIM:300958 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow ... |
ORPHA:436003 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormally large globe, Posterior plagiocephaly, Rhizomelic arm shortening, Abnormal fibular epip... |
ORPHA:96190 |
| Ritscher-Schinzel Syndrome 4 |
|
Premature anterior fontanel closure, Hip dislocation, Brachycephaly, Plagiocephaly, Limited knee ... |
OMIM:619435 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou... |
ORPHA:3107 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Single transverse palmar crease, Glossoptosis, High palate, Rhizomelia, Squared iliac bones, Ulna... |
OMIM:611209 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Anteriorly placed anus, High palate, Short palm, Microdontia, Absent ... |
OMIM:268400 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
| Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
| Gorlin Syndrome |
|
Vertebral fusion, Frontal bossing, Brachycephaly |
ORPHA:377 |
| Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Coronal craniosynostosis, Sagittal craniosynostosis |
OMIM:145420 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Posterior plagiocephaly, Oligodontia, Eyelid col... |
OMIM:615873 |
| Holoprosencephaly 7 |
|
Flat occiput, Synophrys, Shallow orbits, Parietal bossing, Median cleft palate, Iris coloboma, Bi... |
OMIM:610828 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Inguinal hernia, Omphalocel... |
OMIM:247200 |
| Nance-Horan Syndrome |
|
Supernumerary tooth, Microphthalmia, Short metacarpal, Abnormality of the dentition |
ORPHA:627 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Brachycephaly |
ORPHA:93262 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Frontal bossing, Broad toe, Tented upper lip vermilion, Dental crowding, Rocker bottom foot, Epic... |
OMIM:612582 |
| Laurence-Moon Syndrome |
|
Brachycephaly |
ORPHA:2377 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Clinodactyly of the 5... |
OMIM:113620 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po... |
OMIM:607361 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower lip vermilion, Prominent occ... |
OMIM:616920 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Frontal bossing, Prominent metopic ridge, Brachycephaly |
OMIM:608688 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Turricephaly, Torticollis, Broad hallux, Telecanthus, Tapered finger, Short thumb, Plagiocephaly,... |
OMIM:620224 |
| Pediatric-Onset Graves Disease |
|
Small anterior fontanelle, Craniosynostosis, Microcephaly |
ORPHA:525731 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly... |
OMIM:241800 |
| Adnp Syndrome |
|
Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Advanced eruption of ... |
ORPHA:404448 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hip dislocation, Brachycephaly, Macrocephaly |
OMIM:109120 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Sparse eyelashes, Sparse eyebrow, Neonatal epiphyseal stippling, Hip dislocation... |
ORPHA:35173 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arthrogryposis multiplex conge... |
ORPHA:2771 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Sparse... |
ORPHA:2108 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Frontal bossing, Coloboma, Shallow orbits, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:617306 |
| Deafness-Craniofacial Syndrome |
|
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Upslanted palpebral fissur... |
ORPHA:3241 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis |
OMIM:614876 |
| Humeroradial Synostosis |
|
Humeroradial synostosis, Brachycephaly |
OMIM:236400 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal varix, Absent... |
ORPHA:974 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal occipital ... |
ORPHA:3472 |
| Carey-Fineman-Ziter Syndrome |
|
Ptosis, Epicanthus, Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pie... |
ORPHA:1358 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Frontal bossing, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow di... |
ORPHA:2462 |
| 48,Xxxy Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Epicanthus, Down-sloping shoulders, Abnormal dental e... |
ORPHA:96263 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Microphthalmia |
OMIM:613155 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ili... |
ORPHA:1427 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal ... |
OMIM:302960 |
| 3Mc Syndrome 1 |
|
Microcephaly, Wide anterior fontanel, Radioulnar synostosis, Skull asymmetry, Lambdoidal craniosy... |
OMIM:257920 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Genu recurvatum, Recurrent fractures, Craniosynostos... |
OMIM:130070 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Microcephaly, Flexion contracture, Brachycephaly, Macrocephaly, Camptodactyly, Arthrogryposis mul... |
ORPHA:562528 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Advanced eruption of teeth, Long philtrum, Finger syndactyly, Arachn... |
ORPHA:2215 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Craniosynostosis, Macrocephaly |
OMIM:250410 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Inguinal hernia, Epicanthus, Cleft palate, Upper limb asymmetry, Umbilical hernia, Long philtrum,... |
ORPHA:2505 |
| Dubowitz Syndrome |
|
Single transverse palmar crease, Hypoplasia of the iris, High palate, Clinodactyly of the 5th fin... |
OMIM:223370 |
| X-Linked Hypophosphatemia |
|
Frontal bossing, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Palmar pits, Narrow mo... |
ORPHA:77301 |
| Larsen Syndrome |
|
Large joint dislocations, Craniosynostosis, Accessory carpal bones, Joint hyperflexibility, Laryn... |
ORPHA:503 |
| Charge Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Anophthalmia, Highly arched eyebrow, Cleft upper l... |
ORPHA:138 |
| Developmental And Epileptic Encephalopathy 84 |
|
Epicanthus, Synophrys, Thick lower lip vermilion, Opisthotonus, Plagiocephaly, Dystonia, Blepharo... |
OMIM:618792 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Genu recurvatum, Brachycephaly, Macrocephaly |
ORPHA:364028 |
| Seckel Syndrome |
|
Joint hyperflexibility, Craniosynostosis, Microcephaly |
ORPHA:808 |
| 19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Sandal gap, Optic nerve hypoplasia, Long fingers, Narrow mo... |
ORPHA:357001 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Orofacial cleft, High palate, Short phil... |
ORPHA:221120 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Craniosynostosis, Brachycephaly, Plagiocephaly, Delayed cranial ... |
ORPHA:794 |
| Even-Plus Syndrome |
|
Brachycephaly, Midface retrusion |
OMIM:616854 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Craniosynostosis, Joint stiffness, Cranial hyperostosis, Osteolysis, Br... |
ORPHA:309282 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri... |
OMIM:302350 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Ectropion of lower eyelids, Preaxial polyda... |
OMIM:614976 |
| Mend Syndrome |
|
Telecanthus, Broad hallux, Overlapping toe, Asymmetry of the mouth, Long fingers, 2-3 toe syndact... |
ORPHA:401973 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Narrow palpebral fissure, Long philtrum, Microphthalmia, Iris coloboma, Ptosis |
OMIM:615145 |
| Warburg Micro Syndrome 3 |
|
Blepharophimosis, Brachycephaly, Narrow palate, Downturned corners of mouth, Clinodactyly of the ... |
OMIM:614222 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Brachycephaly |
ORPHA:70472 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Cleft upper lip, Postaxial hand polydactyly, 2-3 toe syndactyly, Post... |
OMIM:264480 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Epicanthus, Long palm, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of the philt... |
ORPHA:2759 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Flexion contracture, Brachycephaly |
OMIM:218000 |
| Achondrogenesis, Type Ii |
|
Frontal bossing, Broad long bones, Short tubular bones of the hand, Abnormally large globe, Brach... |
OMIM:200610 |
| Atelis Syndrome 2 |
|
Frontal bossing, Epicanthus, Remnants of the hyaloid vascular system, Single transverse palmar cr... |
OMIM:620185 |
| Joubert Syndrome 23 |
|
Coloboma, Polydactyly |
OMIM:616490 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Wide anterior fontanel, Genu valgum, Sclerosis of skull base, Macrocephaly, Wormian b... |
OMIM:269300 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Ptosis |
OMIM:254300 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Narrow palpebral fissure, Absent distal phalanges, Short middle ... |
OMIM:614219 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Joint hypermobility, Microcephaly, Joint stiffness, Tracheobronchomalacia, Bicoronal synostosis |
OMIM:619184 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Bilateral microphthalmos, Blepharophimosis, Intrauterine growth re... |
OMIM:601186 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation |
OMIM:610756 |
| Distal Duplication 5Q |
|
Craniosynostosis, Microcephaly |
ORPHA:96097 |
| Meier-Gorlin Syndrome 7 |
|
Joint laxity, Craniosynostosis, Sagittal craniosynostosis, Aplasia/Hypoplasia of the patella, Wid... |
OMIM:617063 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Orofacial cleft, Cleft palate, ... |
ORPHA:1752 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Microcephaly, Brachycephaly, Plagiocephaly, Tracheomalacia, Midface retrusion |
ORPHA:261652 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Intestinal malrotatio... |
ORPHA:99776 |
| 2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, High palate, Bilateral single transverse palmar creases, Tapered finger, Sparse ey... |
ORPHA:261349 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scaphocephaly, Craniosynostosis, Macrocephaly |
OMIM:616914 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Ab... |
ORPHA:2526 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
| Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, C... |
OMIM:206900 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Lelis Syndrome |
|
Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Absent lower eyelashes, Upslanted pa... |
ORPHA:140936 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Microcephaly, Contracture of the proximal interphalangeal joint of the 4th fing... |
OMIM:618050 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Wide anterior fontanel, Camptodactyly, Joint contracture of the hand, Delayed c... |
OMIM:113000 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... |
ORPHA:231736 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Abnormality of the knee, Craniosynostosis, Microcephaly, Hyperextens... |
ORPHA:457395 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Frontal bossing, Microcephaly, Craniosynostosis, Dolichocephaly |
OMIM:614114 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum... |
OMIM:617925 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Genu valgum, Ptosis |
OMIM:611560 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Brachycephaly, Wide mouth, Upslanted palpebral fissure, Ptosis |
OMIM:616083 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Frontal bossing, Craniosynostosis |
ORPHA:166035 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Shallow orbits, Clino... |
OMIM:101400 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Ptosis, Furrowed tongue |
ORPHA:2743 |
| Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Brachycephaly, Microcephaly |
OMIM:103050 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow... |
ORPHA:290 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
| Scarf Syndrome |
|
Joint hyperflexibility, Craniosynostosis |
ORPHA:3134 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Brachyturricephaly, Camptodactyly, Camptodact... |
OMIM:300280 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, High palate, Shor... |
ORPHA:65286 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Wide cranial sutures, Recurrent fractures, Brachycephaly, Subperiost... |
OMIM:618188 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Microcephaly, Brachycephaly, Genu valgum, Posterior plagiocephaly, Macrocephaly, Joint hypermobility |
OMIM:617798 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... |
OMIM:309800 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Brachydactyly, Narrow philtrum, Palmoplantar hyperker... |
OMIM:601812 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... |
OMIM:305450 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Frontal bossing, Multiple joint contractures, Recurrent fractures, Craniosynostosis, ... |
ORPHA:536467 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti... |
OMIM:259100 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum... |
ORPHA:85194 |
| Warburg Micro Syndrome 4 |
|
Narrow mouth, Brachycephaly, Long philtrum, Microphthalmia, Ptosis |
OMIM:615663 |
| Williams-Beuren Region Duplication Syndrome |
|
Brachycephaly, Macrocephaly |
OMIM:609757 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Epicanthus, Tapered finger, Microdontia, Long fingers, Narrow mouth, Ca... |
OMIM:616734 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi... |
ORPHA:1307 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesoph... |
ORPHA:59315 |
| 15Q Overgrowth Syndrome |
|
Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostos... |
ORPHA:314585 |
| X-Linked Intellectual Disability, Wilson Type |
|
Brachycephaly, Microcephaly |
ORPHA:85290 |
| Smith-Magenis Syndrome |
|
Frontal bossing, Microcephaly, Joint stiffness, Brachycephaly, Midface retrusion |
ORPHA:819 |
| Pallister-Hall Syndrome |
|
Syndactyly, Anal atresia, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly,... |
OMIM:146510 |
| 3Mc Syndrome |
|
Craniosynostosis, Hip dislocation, Radioulnar synostosis, Spina bifida occulta, Limited pronation... |
ORPHA:293843 |
| Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Limitation of joint mobility, Large fontanelles, Brach... |
ORPHA:1272 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Craniosynostosis |
ORPHA:251004 |
| Catel-Manzke Syndrome |
|
Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid... |
OMIM:616145 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Intrauterine growth retardation |
ORPHA:858 |
| Myhre Syndrome |
|
Short philtrum, Hypoplastic iliac wing, Cleft lip, Short toe, 2-3 toe syndactyly, Cone-shaped epi... |
OMIM:139210 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Frontal bossing, Thin upper lip vermilion, Ptosis, Sandal gap, Broad hallux, Dental crowding, Syn... |
OMIM:616078 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Brachycephaly, Knee flexion contracture, Pathologic fracture |
OMIM:156400 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Meningocele, Glossoptosis, Biparietal narrowing, Chorioretinal coloboma, Clinod... |
ORPHA:2031 |
| Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Epicanthus, Clinodactyly of the 5th f... |
ORPHA:1587 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Congenital Fibrinogen Deficiency |
|
Opisthotonus, Clubbing of fingers, Gingival bleeding, Microphthalmia, Volvulus |
ORPHA:335 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Telecanthus, Tented upper lip vermilion, Deep philtrum, High palate, Polydactyly, Downslanted pal... |
ORPHA:314655 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Single transverse palmar crease, Tremor, Synophrys, Brachycephaly, Widely spaced teeth, High pala... |
OMIM:612474 |
| Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Hand monodactyly, Coloboma, Iris coloboma, Hypopla... |
OMIM:214800 |
| Baller-Gerold Syndrome |
|
Carpal bone aplasia, Turricephaly, Limited elbow movement, Sagittal craniosynostosis, Craniosynos... |
OMIM:218600 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Macrocephaly, Microcephaly, Brachycephaly, Midface retrusion |
OMIM:300260 |
| Neurofaciodigitorenal Syndrome |
|
Epicanthus, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphology, Abnorm... |
ORPHA:2673 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Epicanthus inversus, Lobulated tongue, Iris coloboma, Syndactyly, Cleft ... |
OMIM:249000 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Midface retrusion |
OMIM:182290 |
| Aica-Ribosiduria |
|
Brachycephaly |
ORPHA:250977 |
| Trisomy 9P |
|
Dental crowding, Bilateral single transverse palmar creases, Non-midline cleft lip, Brachycephaly... |
ORPHA:236 |
| Baller-Gerold Syndrome |
|
Frontal bossing, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Epicanthus, Aplasia/H... |
ORPHA:1225 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Brachycephaly, Abnormality of the wrist, Elbow ankylosis, Wide anterior font... |
ORPHA:95699 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Microphthalmia, Anal atresia |
OMIM:617244 |
| Sweeney-Cox Syndrome |
|
Prominent metopic ridge, Flat occiput, Wide anterior fontanel, Brachycephaly, Midface retrusion |
OMIM:617746 |
| Mend Syndrome |
|
Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Upslanted palpebral fissure, Nar... |
OMIM:300960 |
| 3Mc Syndrome 2 |
|
Craniosynostosis, Limited elbow movement, Hip dislocation, Radioulnar synostosis, Skull asymmetry... |
OMIM:265050 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Optic disc hypoplasia, Aniridia, Triphalangeal thumb, Chorioreti... |
ORPHA:233 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Postaxial hand polydactyly, Optic disc coloboma, Postaxial foot p... |
OMIM:608091 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Cloverleaf skull, Flat occiput, Craniosynostosis, Limited elbow extension, Midface retrusion |
OMIM:123790 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Congenital hip dislocation, Microcephaly, Large fontanelles, Wormian... |
OMIM:612940 |
| Hypoglossia-Hypodactylia |
|
Epicanthus, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
| Chromosome 2Q37 Deletion Syndrome |
|
Brachycephaly, Midface retrusion |
OMIM:600430 |
| Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodac... |
ORPHA:84 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Brachycephaly, Coloboma |
OMIM:612379 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Delayed cranial suture closure, Wide anterior fontanel, Osteoporosis, B... |
OMIM:249420 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Microcephaly, Cortical thickening of long bone diaphyses, Decreased skull ossification, Calvarial... |
ORPHA:93324 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Br... |
OMIM:614800 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Syndactyly, Broad eyebrow, Epicanthus, Blepharophimosis, Cleft lip, Furrowed ton... |
OMIM:616975 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Microcephaly, Patellar aplasia, Brachycephaly, Patellar hypoplasia, Plag... |
ORPHA:495818 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Telecanthus, Median cleft lip, Meningocele, Brachycephaly, Patellar hypoplasia, Wi... |
ORPHA:1827 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Microcephaly, Plagiocephaly |
ORPHA:453499 |
| Bilateral Perisylvian Polymicrogyria |
|
Intrauterine growth retardation, Protruding tongue |
ORPHA:98889 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Iris coloboma, Retinal coloboma, Chorioretinal coloboma |
ORPHA:2921 |
| 9P13 Microdeletion Syndrome |
|
Brachycephaly, Metopic synostosis, Joint stiffness |
ORPHA:324313 |
| Cat Eye Syndrome |
|
Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia,... |
OMIM:115470 |
| Tarp Syndrome |
|
Finger syndactyly, Thick eyebrow, Single transverse palmar crease, Rocker bottom foot, Postaxial ... |
ORPHA:2886 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Epicanthus, Macrodontia, Abnormal dental enamel morphology, Elbow dislocation, Postaxial hand pol... |
ORPHA:2916 |
| Kinsship Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Short palpebral fissure, Coxa valga, S... |
OMIM:619297 |
| Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
| Distal Triplication 15Q |
|
Flexion contracture, Craniosynostosis, Camptodactyly |
ORPHA:314588 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... |
ORPHA:352665 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Abnormali... |
ORPHA:3186 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, High palate, Blepharophimosis, Microphthalmia, Epicanthus inv... |
OMIM:110100 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Dental crowd... |
OMIM:309583 |
| Kbg Syndrome |
|
Syndactyly, Ptosis, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Tel... |
OMIM:148050 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Coloboma, Short palm, Clinodactyly of the 5th finger, Iris coloboma, Broad hal... |
ORPHA:508498 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac... |
OMIM:166220 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Camptodactyly of finger, Joint hypermobility |
OMIM:619951 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Short tibia, Short... |
OMIM:601559 |
| De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Generalized j... |
ORPHA:2962 |
| Warburg Micro Syndrome 2 |
|
Flexion contracture, Secondary microcephaly, Brachycephaly, Microcephaly |
OMIM:614225 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Thin upper lip vermilion, Inguinal hernia, Blepharophimosis, Metatarsus add... |
OMIM:611962 |
| Choreoacanthocytosis |
|
Resting tremor, Protruding tongue, Head titubation, Blepharospasm, Limb dystonia, Oromandibular d... |
ORPHA:2388 |
| Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Telecanthus, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthal... |
ORPHA:2612 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Biparietal narrowing, Advanced eruption of teeth, Iris coloboma, Fin... |
ORPHA:818 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Hip dislocation, Small hand,... |
OMIM:300968 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent joint dislocation, Craniosynostosis, Generalized joint laxity, Large fontanelles, Arthr... |
ORPHA:2953 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Refsum Disease |
|
Short metacarpal, Hammertoe, Abnormal epiphysis morphology, Microphthalmia, Ptosis |
ORPHA:773 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Retinal coloboma |
OMIM:601794 |
| Fryns Syndrome |
|
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... |
ORPHA:2059 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
| Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, High, narrow palate, Small hand, Cleft palate, Short foo... |
ORPHA:2714 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Frontal bossing, Finger syndactyly, Telecanthus, Down-sloping shoulders, Open bite, Deep philtrum... |
ORPHA:1974 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Retinal coloboma |
ORPHA:363741 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Frontal bossing, Midface retrusion, Thin calvarium |
ORPHA:1129 |
| Dubowitz Syndrome |
|
Craniosynostosis, Microcephaly, Wide anterior fontanel, Joint hyperflexibility, Spina bifida occu... |
ORPHA:235 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Frontal bossing, Cloverleaf skull, Craniosynostosis, Limited elbow movement, Microcephaly, Elbow ... |
ORPHA:508533 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Epicanthus, Postaxial polydactyly, Synophrys, Upslanted palpebral fissure, Intrauterine growth re... |
OMIM:615824 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Microcephaly, Flexion contracture, Brachycephaly, Plagiocephaly |
ORPHA:500055 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Brachycephaly, High palate, Bilateral coxa valga, Bifid uvula, Scapul... |
OMIM:615582 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Craniosynostosis, Hip subluxation, Limitation of joint mobility, Premature anterior f... |
OMIM:252500 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Brachy... |
OMIM:601701 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... |
ORPHA:261330 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
| 3Mc Syndrome 3 |
|
Highly arched eyebrow, Cleft upper lip, Epicanthus inversus, Preaxial polydactyly, Cleft palate, ... |
OMIM:248340 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Frontal bossing, Prominent metopic ridge, Congenital hip dislocation, Microcephaly, Large fontane... |
OMIM:619512 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Cleft lip, Synophrys, Dental malocclusion, Lacrimal duct atresia, Cleft palate, ... |
OMIM:603457 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Cleft palate, Plagiocepha... |
ORPHA:2021 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly |
OMIM:619910 |
| Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Craniosynostosis, Secondary microcephaly, Camptodactyly, Joint contracture of th... |
OMIM:608156 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial sutures, Osteomalacia, Del... |
ORPHA:289157 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Macroglossia, Coloboma, Microphthalmia |
ORPHA:370959 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Retinal colobo... |
OMIM:184705 |
| Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Craniosynostosis, Tracheomalacia |
ORPHA:412069 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Hypoplastic pubic bone, Flared metaphysis, Glossoptosis, Short long bone, Small ep... |
ORPHA:93346 |
| Scarf Syndrome |
|
Coronal craniosynostosis, Lambdoidal craniosynostosis |
OMIM:312830 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Craniosynostosis, Microcephaly, Brachy... |
OMIM:213980 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Foot joint contracture, Achilles tendon contracture, Brachycephaly, S... |
ORPHA:456312 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Epicanthus, Long hallux, Neonatal epi... |
OMIM:101800 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Chorioretinal co... |
OMIM:280000 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Single transverse palmar crease, Downturned corners of mouth, Iris coloboma, Bifi... |
OMIM:620186 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy |
OMIM:158900 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Wide anterior fontanel, Sagittal craniosynostosis |
OMIM:610199 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Coloboma |
OMIM:613153 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Sy... |
OMIM:122470 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
| White-Sutton Syndrome |
|
Joint laxity, Wormian bones, Brachycephaly, Microcephaly |
OMIM:616364 |
| Ritscher-Schinzel Syndrome 1 |
|
Prominent occiput, Brachycephaly |
OMIM:220210 |
| Craniofrontonasal Syndrome |
|
Joint laxity, Frontal bossing, Brachycephaly, Coronal craniosynostosis, Axillary pterygium |
OMIM:304110 |
| 7Q11.23 Microduplication Syndrome |
|
Craniosynostosis, Brachycephaly, Macrocephaly, Dolichocephaly, Tracheomalacia, Cubitus valgus, Jo... |
ORPHA:96121 |
| Slc39A8-Cdg |
|
Osteopenia, Elbow flexion contracture, Craniosynostosis, Knee flexion contracture |
ORPHA:468699 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly |
ORPHA:1173 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Arachnodactyly, Dental crowding, Highly arched eyebrow, Coxa valga, Elbow dislocation, Open bite,... |
OMIM:620083 |
| Apert Syndrome |
|
Frontal bossing, Cloverleaf skull, Large fontanelles, Cervical C5/C6 vertebrae fusion, Acrobrachy... |
ORPHA:87 |
| Pycnodysostosis |
|
Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle, Prominent o... |
OMIM:265800 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Wormian bones, Recurrent fractures, Multiple prenatal fractures, Wide a... |
OMIM:610915 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor... |
OMIM:609053 |
| Branchioskeletogenital Syndrome |
|
Upper limb peromelia, Synophrys, Brachycephaly, Anteriorly placed anus, Downturned corners of mou... |
ORPHA:1299 |
| Triploidy |
|
Abnormal cardiac septum morphology, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology, Abnorma... |
ORPHA:2556 |
| Mucolipidosis Type Ii |
|
Hip contracture, Prominent metopic ridge, Craniosynostosis, Limited wrist movement, Limitation of... |
ORPHA:576 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Frontal bossing, Prominent metopic ridge, Craniosynostosis, Microcephaly, Wide anteri... |
OMIM:266920 |
| Acrocephalopolydactylous Dysplasia |
|
Oxycephaly, Craniosynostosis |
OMIM:200995 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Oro... |
ORPHA:2166 |
| Lig4 Syndrome |
|
Brachycephaly, Biparietal narrowing, Microcephaly |
ORPHA:99812 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Prominent metopic ridge, Multiple joint contractures, Camptodactyly of finger, Craniosynostosis, ... |
ORPHA:468631 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Synophrys, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus... |
OMIM:602535 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, High, narrow palate, Coloboma, High palate, Hyp... |
OMIM:180849 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Decreased head circumference, Brachycephaly, Plagiocephaly, Increased head circumference, Abnorma... |
ORPHA:247262 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula, Ectropion |
OMIM:615706 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Brachycephaly |
OMIM:620073 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Orofacial cleft, Eyelid coloboma, Foot polydactyly, Chorioretinal colo... |
ORPHA:268249 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Wormian bones, Generalized osteoporosis, Joi... |
OMIM:617952 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Cree Mental Retardation Syndrome |
|
Rocker bottom foot, Cleft soft palate, Brachycephaly, Coloboma, Cutaneous finger syndactyly, Down... |
OMIM:606851 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Hamartoma of tongue, Short toe, Bowing of the a... |
OMIM:269860 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, High palate, Single transverse palmar crease |
OMIM:619053 |
| 49,Xxxxy Syndrome |
|
Elbow dislocation, Hip dislocation, Brachycephaly, Joint hyperflexibility, Radioulnar synostosis |
ORPHA:96264 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Calcaneovalgus deformity, Pterygium, Finger syndactyly, Spina bifida, Cl... |
OMIM:256520 |
| Marshall Syndrome |
|
Frontal bossing, Osteoarthritis, Brachycephaly, Genu valgum, Thickened calvaria |
ORPHA:560 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
| Say-Barber-Miller Syndrome |
|
Craniosynostosis, Microcephaly, Elbow flexion contracture, Hip dislocation, Patellar hypoplasia, ... |
ORPHA:3132 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Microcephaly, Hip dislocation, Wormian bones, Delayed cranial suture cl... |
OMIM:616603 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Finger join... |
OMIM:166200 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Relative macrocephaly, Frontal bossing, Craniosynostosis, Macrocephaly, Joint hypermobility |
OMIM:617506 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Glossoptosis, Cleft palate, Intention tremor |
OMIM:618356 |
| Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... |
ORPHA:33364 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of teeth, High pa... |
ORPHA:2457 |
| Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption of primary teeth, Supernu... |
OMIM:620099 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Frontal bossing, Cloverleaf skull, Camptodactyly of finger, Craniosynostosis, Increas... |
OMIM:166250 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Brachycephaly, Joint hypermobility |
ORPHA:369837 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Deep philtrum, Dental m... |
OMIM:227330 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Septo-optic dysplasia, Hooded eyelid, Single transverse palmar crease, S... |
OMIM:619841 |
| Noonan Syndrome 3 |
|
Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Dolichocephaly, Left unilambdoid synos... |
OMIM:609942 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Stromme Syndrome |
|
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Preaxial polydactyly, Cleft pala... |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Upper eyelid entrop... |
ORPHA:457284 |
| Chime Syndrome |
|
Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clav... |
ORPHA:3474 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Ptosis |
OMIM:615636 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion |
OMIM:278730 |
| Aicardi Syndrome |
|
Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Optic disc coloboma, Small h... |
ORPHA:50 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Frontal bossing, Multiple joint contractures, Subluxation of the s... |
ORPHA:536471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Thick eyebrow, Diastema, Furrowed tongue, Short foot, Upslanted palpebr... |
OMIM:300534 |
| Weill-Marchesani Syndrome 1 |
|
Broad skull, Brachycephaly, Thin bony cortex, Joint stiffness |
OMIM:277600 |
| Arterial Tortuosity Syndrome |
|
Joint hyperflexibility, Hip dislocation, Craniosynostosis, Macrocephaly |
ORPHA:3342 |
| Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Narrow mouth, Brachycephaly, Clef... |
OMIM:309500 |
| Hyperlysinemia |
|
Craniosynostosis, Microcephaly |
ORPHA:2203 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology |
ORPHA:2221 |
| Kapur-Toriello Syndrome |
|
Intestinal malrotation, Orofacial cleft, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2328 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Epicanthus, Tapered finger, Lagophthalmos, Pierre-Robin sequence, Cleft palate, Plagiocephaly, Gl... |
OMIM:254940 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Craniosynostosis |
ORPHA:1521 |
| Spinocerebellar Ataxia Type 36 |
|
Ptosis, Tongue atrophy, Hand tremor, Tongue fasciculations, Head tremor, Intention tremor |
ORPHA:276198 |
| Alg9-Cdg |
|
Frontal bossing, Prominent metopic ridge, Wide anterior fontanel, Brachycephaly, Progressive micr... |
ORPHA:79328 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Promine... |
OMIM:229850 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Hypoplasia of teeth, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:234050 |
| Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Ptosis, Broad eyebrow, Tapered finger, Abnormality of the dentition, Na... |
OMIM:601088 |
| Pallister-Hall Syndrome |
|
Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cleft lip, Trigonocep... |
ORPHA:672 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper... |
ORPHA:99956 |
| Cole-Carpenter Syndrome |
|
Frontal bossing, Turricephaly, Recurrent fractures, Joint hyperflexibility, Wormian bones, Midfac... |
ORPHA:2050 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe synd... |
ORPHA:488642 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Microcephaly, Brachycephaly, Secondary microcephaly, Midface retrusion, Joint hypermobility |
OMIM:619229 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:212550 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
| Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones, Osteoporosis, Recurrent fractures, Joint hypermobility |
OMIM:619131 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Frontal bossing, Microcephaly, Brachycephaly, Secondary microcephaly, Midface retrusion |
OMIM:156200 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Joint contracture of the hand, Spina bifida occulta, Camptodactyly |
OMIM:235510 |
| Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Craniosynostosis, Microcephaly |
OMIM:615465 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Orofacial cleft, Aplasia/Hypoplasia involving the pelvis, Narrow mouth, Mi... |
ORPHA:3301 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Brachycephaly, Microcephaly |
OMIM:618885 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mic... |
OMIM:601552 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Frontal bossing, Craniosynostosis, Microcephaly, Scaphocephaly, Delayed cranial suture closure |
OMIM:620005 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod... |
OMIM:613406 |
| Van Den Ende-Gupta Syndrome |
|
Craniosynostosis, Scaphocephaly, Elbow flexion contracture, Knee flexion contracture, Camptodacty... |
OMIM:600920 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Brachycephaly |
OMIM:619995 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Lower eyelid coloboma, Clef... |
OMIM:616367 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:617296 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos |
OMIM:615085 |
| Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Postaxial polydactyly, Highly arched eyebrow, Trichi... |
OMIM:618460 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Macrocephaly |
ORPHA:667 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... |
ORPHA:2334 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Craniosynostosis, Microcephaly, Flexion contracture, Brachycephaly, Macrocephaly, Camptodactyly, ... |
OMIM:309590 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Rocker bottom foot, Tapered finger, Narrow mouth, Brachycephaly, Cleft ... |
OMIM:601353 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Rieger anomaly, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus deformit... |
ORPHA:521445 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Frontal bossing, Turricephaly, Epicanthus, Aganglionic megacolon, Tapered finger, Plagiocephaly, ... |
OMIM:613603 |
| Opitz Gbbb Syndrome |
|
Prominent metopic ridge, Craniosynostosis, Microcephaly, Large fontanelles, Tracheomalacia |
ORPHA:2745 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnorm... |
ORPHA:2907 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the large int... |
OMIM:614576 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoc... |
OMIM:274000 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia |
OMIM:613730 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Achilles tendon contracture, Hip dislocation, Brachycephaly, Secondary microcephaly, Midface retr... |
OMIM:616263 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, Microcephaly |
OMIM:619244 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Broad skull, Microspherophakia, Short metatarsal, Brachycephaly, Broad palm, El... |
OMIM:608328 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Spina bifida occulta, Craniosynostosis |
OMIM:300707 |
| Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure of the anterior fo... |
OMIM:614008 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Short philtrum, Arachnodactyly, Abnormal dental enamel morphology, Sp... |
ORPHA:567 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Telecanthus, Broad hallux, Hamartoma of tongue, Cleft lip, ... |
OMIM:615948 |
| Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Microcephaly, Hip dislocation, Brachycephaly, Plagiocephaly, Distal arthrogryposis,... |
OMIM:618268 |
| Lig4 Syndrome |
|
Brachycephaly, Microcephaly |
OMIM:606593 |
| Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Microcephaly, Elbow dislocation, Patellar aplasia, Joi... |
ORPHA:2554 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Recurrent fractures, Decreased calvarial ossification, Wormian bones, Joint hypermobi... |
OMIM:616229 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Thin upper lip vermilion, Highly arched eyebrow, Tapered finger, Short thumb, Sy... |
OMIM:616728 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ptosis, Highly arched eyebrow, Short toe, Brachycephaly, Orofacia... |
ORPHA:1519 |
| Cerebrofaciothoracic Dysplasia |
|
Macrocephaly, Brachycephaly, Midface retrusion |
ORPHA:1394 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, ... |
OMIM:614643 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia |
OMIM:618805 |
| Zttk Syndrome |
|
Relative macrocephaly, Frontal bossing, Craniosynostosis, Flexion contracture, Macrocephaly, Midf... |
OMIM:617140 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Upslant... |
OMIM:614083 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Coloboma, Abnormally large globe |
OMIM:615249 |
| Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti... |
ORPHA:2729 |
| Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... |
OMIM:120200 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Microcephaly, Osteoporo... |
OMIM:231070 |
| Osteogenesis Imperfecta |
|
Osteopenia, Relative macrocephaly, Recurrent fractures, Protrusio acetabuli, Fractures of the lon... |
ORPHA:666 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Flat occiput, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel m... |
ORPHA:534 |
| Kleefstra Syndrome |
|
Tracheomalacia, Limitation of joint mobility, Brachycephaly, Microcephaly |
ORPHA:261494 |
| Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
| White-Sutton Syndrome |
|
Joint laxity, Microcephaly, Brachycephaly, Midface retrusion |
ORPHA:468678 |
| Orofaciodigital Syndrome Type 14 |
|
Telecanthus, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of tongue,... |
ORPHA:434179 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta, Anomalous pulmonary venous return |
ORPHA:2311 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Limited elbow extension, Brachycephaly, Joint hypermobility |
OMIM:250250 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Cleft upper lip, Cleft palate, Conjunctivitis, Microphthalmia, Distichiasis, Ptosis |
OMIM:153400 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| 15q26 overgrowth syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormal joint morphology, Macrocephaly, Joint hypermo... |
DECIPHER:81 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Bilateral microphthalmos, Uppe... |
OMIM:154500 |
| Culler-Jones Syndrome |
|
Cleft palate, Midface retrusion, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis |
OMIM:601374 |
| Alagille Syndrome |
|
Frontal bossing, Spina bifida occulta, Brachycephaly |
ORPHA:52 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia, Intra... |
OMIM:603467 |
| Mullegama-Klein-Martinez Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Curly eyelashes, Cleft lip, Cleft palate, Submucous cl... |
OMIM:301022 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, O... |
ORPHA:101085 |
| Micro Syndrome |
|
High palate, Short philtrum, Retinal coloboma, Microphthalmia, Intrauterine growth retardation |
ORPHA:2510 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
| Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Syndactyly, Persistence of primary teeth, Mesomelic arm shorten... |
ORPHA:97360 |
| Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Single transverse palmar crease, Brachycephaly, Short philtrum, Clinodactyly o... |
ORPHA:1449 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Frontal bossing, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Lacrimal d... |
OMIM:151050 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Brachycephaly, Joint stiffness |
ORPHA:2062 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Tented upper lip vermilion, Rocker bottom foot, Single transverse p... |
OMIM:617527 |
| Faciocardiomelic Syndrome |
|
Telecanthus, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis,... |
OMIM:612731 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Cleft upper lip, Blepharophimosis, Limbal dermoid, Partial... |
OMIM:164210 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:464 |
| Turnpenny-Fry Syndrome |
|
Dental crowding, Brachycephaly, Prominent interphalangeal joints, Downturned corners of mouth, Hi... |
OMIM:618371 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi... |
OMIM:263520 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Frontal bossing, Occipital encephalocele, Abnormal acetabulum morphology, Epicanthus, Postaxial p... |
ORPHA:397715 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Frontal bossing, Epicanthus, Stomach cancer, Cleft palate, Abnormality of t... |
ORPHA:1052 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu... |
OMIM:616546 |
| Arboleda-Tham Syndrome |
|
Frontal bossing, Craniosynostosis, Microcephaly, Enlarged proximal interphalangeal joints, Genu v... |
OMIM:616268 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
| Distal Deletion 12Q |
|
Frontal bossing, Microcephaly, Wide anterior fontanel, Elbow flexion contracture, Brachycephaly, ... |
ORPHA:96149 |
| Elsahy-Waters Syndrome |
|
Synophrys, Brachycephaly, Anteriorly placed anus, Cutaneous finger syndactyly, High palate, Bifid... |
OMIM:211380 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Keratoconjunctivitis sicca, Abnormality of the dentition |
ORPHA:1806 |
| Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Downturned corners of mouth, W... |
ORPHA:79500 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Frontal bossing, Joint stiffness, Flexion contracture, Brachycephaly, Osteolytic defe... |
OMIM:619127 |
| Roberts-Sc Phocomelia Syndrome |
|
Brachycephaly, Tetraphocomelia, Coloboma, Eyelid coloboma, High palate, Shallow orbits, Phocomeli... |
OMIM:268300 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Microcephaly, Flexion contracture, Brachycephaly, Plagiocephaly |
OMIM:301072 |
| Congenital Myopathy 13 |
|
Telecanthus, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Bilateral tal... |
OMIM:255995 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Narrow mouth, Microphthalmia, Crypt... |
OMIM:617666 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Flat occiput, Single transverse palmar crease, Abnormality of the denti... |
ORPHA:1596 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly ossified vertebrae, Scle... |
ORPHA:3003 |
| Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Malabsorption, Abnormal eyelid morphology, Cheilitis, Abnormality of... |
ORPHA:37 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia |
OMIM:613150 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Frontal bossing, Sagittal craniosynostosis, Scaphocephaly, Osteoporosis, Dolichocep... |
OMIM:218330 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Brachycephaly, Posterior plagiocephaly, High palate, Bifid uvula, Long philtrum, Dolichocephaly, ... |
OMIM:620330 |
| Fanconi Anemia, Complementation Group C |
|
Epicanthus, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thu... |
OMIM:227645 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft ma... |
ORPHA:508488 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb... |
OMIM:227646 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Fountain Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:3219 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Protrusio acetabuli, Multiple prenatal fra... |
OMIM:610682 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis |
ORPHA:79396 |
| X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Epicanthus, Abnormality of the elbow, Small hand, Brachycephaly, Cleft palate, S... |
ORPHA:85276 |
| Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy |
OMIM:620285 |
| Oculoauricular Syndrome |
|
Short mandibular rami, Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Retinal... |
OMIM:612109 |
| Duplication Of The Pituitary Gland |
|
Microcephaly, Brachyturricephaly, Abnormality of joint mobility, Midface retrusion |
ORPHA:314621 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe... |
ORPHA:90153 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Brachycephaly, Abnormal periodontium morphology, High palate, Tapered... |
ORPHA:480880 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Brachycephaly, Joint hyperflexibility, Abnormal bone ossification,... |
ORPHA:175 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation |
OMIM:617914 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Limited elbow movement, Upper limb undergrowth, Flat acetabular roof, Genu valgum, C... |
ORPHA:94068 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Mening... |
OMIM:130720 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... |
OMIM:175500 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Joint dislocation, Craniosynostosis, Microcephaly, Macrocephaly, Tracheomalacia, Jo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Joint dislocation, Craniosynostosis, Microcephaly, Macrocephaly, Tracheomalacia, Jo... |
ORPHA:363958 |
| Ramos-Arroyo Syndrome |
|
Frontal bossing, Aganglionic megacolon, Carious teeth, Dacryocystitis, Xerostomia, Nasolacrimal d... |
ORPHA:1051 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Abnormal toe morphology, Abnormal finger morphology, Cranial asymmet... |
OMIM:163200 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Brachycephaly |
OMIM:619859 |
| Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Gingival overgrowth, ... |
OMIM:312870 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Torticollis, Epicanthus, Exaggerated cupid's bow, Spina bifida, Tapered finger, ... |
OMIM:619480 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Microcephaly, Brachycephaly, Midface retrusion |
OMIM:257300 |
| Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ... |
OMIM:135900 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... |
ORPHA:284984 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Frontal bossing, Cloverleaf skull, Tarsal synostosis, Craniosynostosis, Microcephaly, Humeroradia... |
OMIM:201750 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication... |
OMIM:236680 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Eyelid coloboma, Limbal dermoid |
OMIM:613001 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Craniosynostosis, Microcephaly, Joint contracture of the 5th finger, Midface retrusion |
ORPHA:363611 |
| Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
| Congenital Disorder Of Deglycosylation 1 |
|
Microcephaly, Osteoporosis, Brachycephaly, Midface retrusion |
OMIM:615273 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... |
ORPHA:63259 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Microcephaly, Brachycephaly, Advanced ossification of carpal bones, Flat acetabular... |
OMIM:610442 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand poly... |
OMIM:617088 |
| Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Limitation of joint mobility, Brachyturricephaly, Midface retrusion |
ORPHA:93260 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Furrowed tongue, Keratoc... |
OMIM:148210 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Microcephaly, Contracture of the distal interphalangeal joint of the fingers, Fused cervical vert... |
ORPHA:83617 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Brachycephaly, Microcephaly |
OMIM:244450 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Craniosynostosis |
ORPHA:2136 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Cleft upper lip, Cleft palate, Talipes equinovarus, Microphthalmia... |
OMIM:100300 |
| Fucosidosis |
|
Brachycephaly |
ORPHA:349 |
| Townes-Brocks Syndrome |
|
Anteriorly placed anus, Triphalangeal thumb, Chorioretinal coloboma, Limbal dermoid, Clinodactyly... |
ORPHA:857 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... |
OMIM:117650 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Keratoconjunctivitis sicca, Microphthalmia, Triangular mouth |
OMIM:601675 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Cleft pal... |
OMIM:236670 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis |
ORPHA:60030 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Joint dislocation, Generalized joint laxity, Large fontanelles, Brachycephaly, Dist... |
OMIM:601776 |
| Cockayne Syndrome B |
|
Delayed eruption of primary teeth, Carious teeth, Tremor, Dental malocclusion, Ivory epiphyses of... |
OMIM:133540 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Ptosis |
OMIM:614153 |
| X-Linked Intellectual Disability, Snyder Type |
|
Brachycephaly, Osteoporosis, Recurrent fractures, Camptodactyly |
ORPHA:3063 |
| Gabriele-De Vries Syndrome |
|
Craniosynostosis, Patellar subluxation, Distal arthrogryposis, Finger joint hypermobility, Dolich... |
ORPHA:506358 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Coloboma, High palate, Syndactyly, Broad hallux, Highly arched eyebrow, Supernum... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Coloboma, High palate, Syndactyly, Broad hallux, Highly arched eyebrow, Supernum... |
ORPHA:353277 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:600901 |
| Aicardi Syndrome |
|
Proximal placement of thumb, Hiatus hernia, Cleft upper lip, Spina bifida, Optic disc coloboma, C... |
OMIM:304050 |
| Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart |
ORPHA:991 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Brachycephaly, Plagiocephaly, Osteopetrosis, Thickened calvaria |
ORPHA:2785 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Lacrimal duct atresia, Delayed eruption of primary teeth |
OMIM:300952 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Ptosis, Highly arched eyebrow, Synophrys, Small hand, Fibular hypoplasi... |
ORPHA:444077 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx |
OMIM:227650 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Epicanthus, Tracheoesophageal fistula, High palate, Talipes equinovarus... |
OMIM:277380 |
| Noonan Syndrome With Multiple Lentigines |
|
Spina bifida occulta, Brachycephaly |
ORPHA:500 |
| Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Proboscis, Submucous cleft hard palate, Bilate... |
OMIM:157170 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Craniosynostosis, Camptodactyly |
OMIM:609192 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Exaggerated startle response |
OMIM:253800 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Brachycephaly, Contracture o... |
OMIM:618223 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Orofacial cleft, Choreoathetosis, Polydactyly, Dystonia, Ptosis |
ORPHA:17 |
| Stickler Syndrome |
|
Epicanthus, Telecanthus, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ... |
ORPHA:828 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615108 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| Proteus Syndrome |
|
Craniosynostosis, Joint stiffness, Hip dislocation, Macrocephaly, Hyperostosis, Dolichocephaly, C... |
ORPHA:744 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Inguinal hernia, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pylor... |
ORPHA:268261 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615109 |
| Peters-Plus Syndrome |
|
Joint laxity, Frontal bossing, Craniosynostosis, Limited elbow movement, Microcephaly, Wide anter... |
OMIM:261540 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:221900 |
| Myopathy, Myofibrillar, 7 |
|
Talipes equinovarus, Tongue atrophy, Elbow flexion contracture, Shoulder flexion contracture |
OMIM:617114 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| 1P36 Deletion Syndrome |
|
Frontal bossing, Camptodactyly of finger, Joint stiffness, Microcephaly, Brachycephaly, Midface r... |
ORPHA:1606 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Tongue atrophy, Tongue fasciculations, Ptosis |
OMIM:211530 |
| Papillorenal Syndrome |
|
Orbital cyst, Microphthalmia, Optic disc coloboma, Retinal coloboma |
OMIM:120330 |
| Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnormal oral... |
ORPHA:1401 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contractu... |
OMIM:610168 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia |
ORPHA:891 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Frontal bossing, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Microcephal... |
OMIM:607872 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Pyloric stenosis, Polydactyly, Acromesomelia, Clin... |
ORPHA:464306 |
| Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Downslanted palpebral fissures, Preaxial polydactyly |
ORPHA:163681 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Frontal bossing, Sagittal craniosynostosis, Hyperextensible hand joints, M... |
ORPHA:500150 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida |
OMIM:616038 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Sparse eyebrow, Narrow palpebral fissure, Thin vermilion border, High palate, Polydac... |
OMIM:619869 |
| X-Linked Agammaglobulinemia |
|
Glossoptosis, Conjunctivitis, Malabsorption |
ORPHA:47 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Single transverse palmar crease, Cleft palate, Anteriorly placed anus, Colonic atresia, Microphth... |
OMIM:309801 |
| Wiedemann-Rautenstrauch Syndrome |
|
Frontal bossing, Delayed closure of the anterior fontanelle, Flexion contracture, Brachycephaly, ... |
OMIM:264090 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Brachycephaly, Joint hypermobility, Microcephaly |
OMIM:619950 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Frontal bossing, Epicanthus, Micromelia, Cleft upper lip, Preaxial hand polydactyly,... |
ORPHA:93271 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Tremor, Synophrys, Downturned corners of mouth, Short philtrum, Premature ... |
ORPHA:3455 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Delayed cranial suture closure, Delayed closure of the an... |
OMIM:278250 |
| Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Osteoarthritis, Knee osteoar... |
OMIM:613795 |
| Tetraamelia Syndrome 1 |
|
Cleft upper lip, Cleft palate, Hypoplastic pelvis, Gastroschisis, Microphthalmia, Anal atresia |
OMIM:273395 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
| Holoprosencephaly 1 |
|
Proboscis, Microphthalmia, Cyclopia, Midface retrusion, Median cleft lip and palate |
OMIM:236100 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... |
ORPHA:261537 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of permanent ... |
OMIM:257980 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro... |
OMIM:308300 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Brachycephaly |
OMIM:608980 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:158350 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
| Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely spaced teeth, Bifid uvula, I... |
ORPHA:2152 |
| Cockayne Syndrome |
|
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion... |
ORPHA:191 |
| Primrose Syndrome |
|
Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Brachycephaly, Knee flex... |
OMIM:259050 |
| Legius Syndrome |
|
Dystonia, Diaphyseal dysplasia, Xanthelasma, Polydactyly, Lisch nodules, Clinodactyly of the 5th ... |
ORPHA:137605 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Brachyturricephaly, Progressive flexion contractures |
ORPHA:522077 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Hammertoe, Hip dysplasia, Tongue fasciculations, Head tremor, Difficulty in tongu... |
ORPHA:99949 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Bifid uvula, Long h... |
ORPHA:261552 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Frontal bossing, Flexion ... |
OMIM:619503 |
| Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma |
ORPHA:1134 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Meta... |
ORPHA:3206 |
| Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas... |
OMIM:609049 |
| Aspartylglucosaminuria |
|
Joint laxity, Microcephaly, Brachycephaly, Pathologic fracture, Thickened calvaria |
OMIM:208400 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Flexion contracture of finger, Tongue atrophy, Hand musc... |
ORPHA:466768 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Cubitus valgus, Frontal bossing, Brachycephaly, Microcephaly |
OMIM:617157 |
| Sotos Syndrome |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Craniosynostosis, Bilateral camptodacty... |
ORPHA:821 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Coloboma, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia, Mid... |
OMIM:253280 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Iris co... |
ORPHA:42775 |
| Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Esophageal atresia... |
OMIM:192350 |
| Agel Amyloidosis |
|
Tongue atrophy, Bilateral ptosis, Xerostomia, Keratoconjunctivitis sicca, Blepharochalasis |
ORPHA:85448 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Intrauterine growth retardation, Glossitis, Cleft palate |
ORPHA:79284 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Brachycephaly, High palate, Broad uvula, Bifid uvula, Lon... |
OMIM:619472 |
| Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
| Common Variable Immunodeficiency |
|
Brachycephaly |
ORPHA:1572 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Cornelia De Lange Syndrome |
|
Joint stiffness, Elbow dislocation, Microcephaly, Hip dislocation, Brachycephaly, Radioulnar syno... |
ORPHA:199 |
| Neu-Laxova Syndrome |
|
Spina bifida |
ORPHA:2671 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Keratoconjunctivitis sicca, Microphthalmia, Enamel hypoplasia, Intention tremor |
ORPHA:90324 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l... |
OMIM:615726 |
| Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Osteomyelitis, Microcephaly |
ORPHA:2968 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Spina bifida |
ORPHA:2308 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing |
OMIM:259770 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth... |
OMIM:309000 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Cleft palate, Congenital aphakia |
ORPHA:137675 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Giant Cell Arteritis |
|
Glossitis, Ptosis |
ORPHA:397 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly |
OMIM:219730 |
| Peters Plus Syndrome |
|
Frontal bossing, Spina bifida occulta, Brachycephaly, Microcephaly |
ORPHA:709 |
| Campomelic Dysplasia |
|
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism |
OMIM:114290 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
| Phocomelia, Schinzel Type |
|
Meningocele |
ORPHA:2879 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
| Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue |
OMIM:158310 |
| Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co... |
ORPHA:201 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Brachycephaly |
OMIM:265380 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Brachycephaly |
ORPHA:2072 |
| Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus |
ORPHA:573278 |
| Marfan Syndrome |
|
Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
| Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Stomatitis, Intrauterine growth retardation, Glossitis, Smooth philtrum |
ORPHA:79282 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontal bossing, Syndactyly, Inguinal hernia, Postaxial polydactyly, Broad first metatarsal, Esop... |
OMIM:619534 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Abnormal digit morphology, Median cle... |
ORPHA:95494 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
| Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
| Arima Syndrome |
|
Occipital meningocele |
OMIM:243910 |
| Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Hypoplasia of the iris, ... |
ORPHA:649 |
| Kawasaki Disease |
|
Conjunctivitis, Glossitis, Cheilitis, Ptosis |
ORPHA:2331 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Dystonia, Limb dystonia |
OMIM:175780 |
| Microsporidiosis |
|
Glossitis, Keratoconjunctivitis |
ORPHA:2552 |
| Glucagonoma |
|
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
| Plague |
|
Chapped lip, Abnormality of the elbow, Enterocolitis, Inflammation of the large intestine, Conjun... |
ORPHA:707 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele |
OMIM:276820 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Absent eyebrow, Adenomatous colonic polyposis, Oligodontia, Colon cancer, Short eyelashes, Fundic... |
OMIM:608615 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
