| 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 |
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Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Hand clenching, Opisthotonus, Choreoathetosis, Protruding tongue |
OMIM:619580 |
| Chromosome 5P13 Duplication Syndrome |
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Frontal bossing, Turricephaly, Craniosynostosis, Brachycephaly, Macrocephaly |
OMIM:613174 |
| Gm1-Gangliosidosis, Type Ii |
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Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth |
OMIM:230600 |
| Trichothiodystrophy 6, Nonphotosensitive |
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Coronal craniosynostosis, Microcephaly |
OMIM:616943 |
| 17Q12 Microduplication Syndrome |
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Finger syndactyly, Toe syndactyly, Synophrys, Tracheoesophageal fistula, Cleft palate, Microphtha... |
ORPHA:261272 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
| Osteopetrosis, Autosomal Recessive 1 |
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Frontal bossing, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, ... |
OMIM:259700 |
| Microphthalmia, Isolated, With Coloboma 3 |
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Microphthalmia, Iris coloboma |
OMIM:610092 |
| Proboscis Lateralis |
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Anophthalmia, Abnormal morphology of bony orbit of skull, Orofacial cleft, Eyelid coloboma, High ... |
ORPHA:141099 |
| 3Q29 Microduplication Syndrome |
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Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Cleft ... |
ORPHA:251038 |
| 2Q32Q33 Microdeletion Syndrome |
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Broad hallux phalanx, Arachnodactyly, Dental crowding, Narrow mouth, Brachycephaly, Cleft palate,... |
ORPHA:251019 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
| Premature Ovarian Failure 12 |
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Microphthalmia |
OMIM:616947 |
| Orofaciodigital Syndrome V |
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Unilateral ptosis, Frontal bossing, Thin upper lip vermilion, Median cleft lip, Sandal gap, Agang... |
OMIM:174300 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Limitation of joint mobility, Dolichocephaly, Wormian bones, Pathologic fracture, Abnormal cortic... |
ORPHA:166277 |
| Cohen Syndrome |
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Abnormal eyelid morphology, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, ... |
ORPHA:193 |
| Isolated Pierre Robin Syndrome |
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Glossoptosis, Cleft palate |
ORPHA:718 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Preaxial polydactyly, Brachycephal... |
OMIM:618142 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Microphthalmia, Occipital encephalocele, Coloboma, Orofacial cleft |
ORPHA:324416 |
| 8Q12 Microduplication Syndrome |
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Epicanthus, Telecanthus, Highly arched eyebrow, Narrow mouth, Brachycephaly, Short foot, Everted ... |
ORPHA:228399 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
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Osteopenia, Hip contracture, Frontal bossing, Microcephaly, Brachycephaly, Plagiocephaly |
OMIM:616801 |
| Mohr Syndrome |
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Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
| Vulto-Van Silfhout-De Vries Syndrome |
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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 |
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Spina bifida, Mitral valve prolapse |
OMIM:211960 |
| Frontoocular Syndrome |
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Trigonocephaly, Coronal craniosynostosis |
OMIM:605321 |
| X-Linked Intellectual Disability, Van Esch Type |
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Coronal craniosynostosis, Microcephaly |
ORPHA:163976 |
| Pseudodiastrophic Dysplasia |
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Frontal bossing, Phalangeal dislocation, Elbow dislocation, Brachycephaly, Camptodactyly, Midface... |
OMIM:264180 |
| Congenital Muscular Dystrophy, Fukuyama Type |
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Camptodactyly of finger, Flexion contracture, Brachycephaly, Plagiocephaly, Dolichocephaly |
ORPHA:272 |
| Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Brachycephaly, Increased susc... |
OMIM:610968 |
| Xk Aprosencephaly Syndrome |
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Microphthalmia, Abnormal morphology of the radius, Anal atresia, Narrow mouth |
ORPHA:3469 |
| Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
| Mosaic Trisomy 1 |
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Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Congenital bilateral ptosi... |
ORPHA:1692 |
| Nanophthalmos |
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Microphthalmia |
ORPHA:35612 |
| Achard Syndrome |
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Joint laxity, Broad skull, Brachycephaly |
OMIM:100700 |
| Gillessen-Kaesbach-Nishimura Syndrome |
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Microcephaly, Wide anterior fontanel, Flexion contracture, Brachycephaly, Decreased skull ossific... |
OMIM:263210 |
| Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Short stature |
OMIM:615925 |
| Cornelia De Lange Syndrome 5 |
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Telecanthus, Toe syndactyly, Proximal placement of thumb, Highly arched eyebrow, Synophrys, Small... |
OMIM:300882 |
| Acrofrontofacionasal Dysostosis |
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Ptosis, Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly,... |
ORPHA:1784 |
| Crouzon Syndrome |
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Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:123500 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
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Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Brachycephaly, ... |
OMIM:619148 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
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Brachycephaly |
OMIM:309545 |
| Bardet-Biedl Syndrome 4 |
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Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
| Chopra-Amiel-Gordon Syndrome |
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Microcephaly, Brachycephaly, Macrocephaly, Midface retrusion, Joint hypermobility |
OMIM:619504 |
| Cockayne Syndrome Type 2 |
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Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... |
ORPHA:90322 |
| Fetal Alcohol Syndrome |
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Thin upper lip vermilion, Ptosis, Epicanthus, Telecanthus, Non-midline cleft lip, Cleft palate, B... |
ORPHA:1915 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
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