| Fryns Microphthalmia Syndrome |
|
Tessier cleft, Macrotia, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmi... |
OMIM:600776 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Low-set ears, Tessier cleft, Broad proximal phalanges of the hand, Brachytur... |
OMIM:607597 |
| Anophthalmia Plus Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Tessier cleft, Deviation of finger, Low-set, posteriorly rota... |
ORPHA:1104 |
| Cerebrooculonasal Syndrome |
|
Tessier cleft, Long philtrum, Widely spaced teeth, Low-set, posteriorly rotated ears, Anophthalmi... |
ORPHA:66625 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Skull asymmetry, Umbilical hernia, Secondary microcephaly, Intrauterine growth retar... |
OMIM:612938 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Low-set ears, Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilatera... |
OMIM:601357 |
| Anencephaly 2 |
|
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... |
OMIM:619452 |
| Frontonasal Dysplasia 3 |
|
Low-set ears, Tessier cleft, Brachycephaly, Microphthalmia, Posteriorly rotated ears, Cleft palate |
OMIM:613456 |
| Acrofacial Dysostosis, Weyers Type |
|
Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Abno... |
ORPHA:952 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Polydactyly,... |
OMIM:613885 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly |
OMIM:611638 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Acrofacial Dysostosis, Catania Type |
|
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ... |
ORPHA:1786 |
| Frontofacionasal Dysplasia |
|
Tessier cleft, Encephalocele, Brachycephaly, Microphthalmia, Short stature, Non-midline cleft of ... |
ORPHA:1791 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Plagiocephaly, Dental crowding, Protruding tongue, Submucous cleft hard palate, Microcephaly, Pos... |
OMIM:618106 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:600251 |
| Oculomaxillofacial Dysostosis |
|
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Median cleft upper lip, Bra... |
ORPHA:1794 |
| Acrocallosal Syndrome |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Hearing im... |
OMIM:200990 |
| Oculocerebrocutaneous Syndrome |
|
Tessier cleft, Short distal phalanx of finger, Hearing impairment, Finger syndactyly, Calvarial s... |
ORPHA:1647 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Long philtrum, Diastema, Macrotia, Postnatal growth retardation, Macrodontia, Gingi... |
OMIM:212066 |
| Frontonasal Dysplasia 2 |
|
Low-set ears, Cerebellar vermis hypoplasia, Conical tooth, Parietal foramina, Widely spaced teeth... |
OMIM:613451 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Microphthalmia, Cleft palate, Dandy-Walker malformation |
OMIM:164180 |
| Raine Syndrome |
|
Low-set ears, Natal tooth, Long hallux, Narrow mouth, Protruding tongue, Bowing of the long bones... |
OMIM:259775 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... |
OMIM:311895 |
| Joubert Syndrome 1 |
|
Low-set ears, Cerebellar vermis hypoplasia, Postaxial foot polydactyly, Dysgenesis of the cerebel... |
OMIM:213300 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Short 5th finger, Tessier cleft, Conductive hearing impairment, Atresia of the external auditory ... |
OMIM:239800 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Mosaic Trisomy 9 |
|
Low-set ears, Tessier cleft, Micromelia, Finger clinodactyly, Camptodactyly of finger, Intestinal... |
ORPHA:99776 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Cerebrooculonasal Syndrome |
|
Low-set ears, Postnatal growth retardation, Encephalocele, Anophthalmia, High palate, U-Shaped up... |
OMIM:605627 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, 2-3 toe syndactyly, Microcephaly, Large hands, Thick vermilion border, Dolicho... |
ORPHA:1446 |
| Hydrolethalus |
|
Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Low-set, posteriorly... |
ORPHA:2189 |
| Gómez-López-Hernández Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Turricephaly, Brachyc... |
ORPHA:1532 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low-set ears, Dry skin, Gingival overgrowth, Protruding tongue, Brachycephaly, Wide mouth, Flat o... |
OMIM:618797 |
| Developmental And Epileptic Encephalopathy 80 |
|
Low-set ears, Short distal phalanx of finger, Hearing impairment, Long philtrum, Wide mouth, Tent... |
OMIM:618580 |
| Trisomy 13 |
|
High, narrow palate, Abnormality of the dentition, Low-set ears, Abnormal helix morphology, Chiar... |
ORPHA:3378 |
| Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
| Congenital Sialidosis Type 2 |
|
Low-set ears, Hearing impairment, Umbilical hernia, Gingival overgrowth, Protruding tongue, Petec... |
ORPHA:93400 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Hearing impairment, Persistence of primary teeth, Protruding tongue, Talipes equinov... |
OMIM:610253 |
| Treacher-Collins Syndrome |
|
Open bite, Narrow mouth, Encephalocele, Microphthalmia, High palate, Rectovaginal fistula, Cleft ... |
ORPHA:861 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Microphthalmia With Limb Anomalies |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anophthal... |
OMIM:206920 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Cerebellar atrophy, Intrauterine growth retardation, Overlapping fingers, Narrow mo... |
OMIM:608779 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Tessier cleft, Hypoplasia of the ear cartilage, Broad thumb, Lip pit, Camptodactyly of finger, La... |
ORPHA:1236 |
| Pierpont Syndrome |
|
Chiari malformation, Hearing impairment, Prominent fingertip pads, Widely spaced teeth, Short toe... |
ORPHA:487825 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
| Unilateral Ocular Duplication |
|
Frontal bossing, Encephalocele, Median cleft upper lip, Dolichocephaly, Midline facial cleft, Cle... |
ORPHA:3374 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Low-set ears, Broad thumb, Cerebellar atrophy, Prominent fingertip pads, Prominent crus of helix,... |
OMIM:617804 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Prominent ear helix, Large earlobe, Anophthalmia, Everted lower lip vermi... |
ORPHA:411986 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth |
OMIM:618732 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Widely-spaced maxillary central incisors, Diastema, Umbilical hernia, Thick lower l... |
OMIM:301040 |
| Marshall-Smith Syndrome |
|
Conductive hearing impairment, Gingival overgrowth, Open mouth, Protruding tongue, Cerebellar hyp... |
ORPHA:561 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Narrow mouth, Microcephaly, Brachycephaly, Microphthalmia, Short stature, High palate, Growth delay |
ORPHA:2528 |
| Icf Syndrome |
|
Low-set ears, Umbilical hernia, Protruding tongue, Short stature, Macroglossia, Communicating hyd... |
ORPHA:2268 |
| Down Syndrome |
|
Open mouth, Narrow mouth, Protruding tongue, Round ear, Celiac disease, Anal atresia, Duodenal at... |
ORPHA:870 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Hearing impairment, Protruding tongue, Microcephaly, Brachycephaly, ... |
ORPHA:96147 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Small earlobe, Conductive hearing impairment, Umbilical hernia, Recurrent otitis media, Intrauter... |
ORPHA:99843 |
| Angelman Syndrome |
|
Widely spaced teeth, Secondary microcephaly, Protruding tongue, Brachycephaly, Macroglossia, Wide... |
OMIM:105830 |
| Fontaine Progeroid Syndrome |
|
Low-set ears, Narrow mouth, Protruding tongue, Everted lower lip vermilion, Microphthalmia, Synda... |
OMIM:612289 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Anophthalmia, Cleft palate, Microphthalmia |
OMIM:615524 |
| Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Microcephaly, Brachycephaly, Everted lower lip vermilion, Shor... |
ORPHA:1695 |
| Adenylosuccinate Lyase Deficiency |
|
Low-set ears, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microcepha... |
ORPHA:46 |
| Aminopterin Syndrome Sine Aminopterin |
|
Low-set ears, Clinodactyly, Short thumb, Umbilical hernia, Frontal bossing, Intrauterine growth r... |
OMIM:600325 |
| Angelman Syndrome Due To A Point Mutation |
|
Cessation of head growth, Widely spaced teeth, Secondary microcephaly, Protruding tongue, Wide mo... |
ORPHA:411511 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Low-set ears, Abnormal helix morphology, Hearing impairment, Brachyturriceph... |
OMIM:214100 |
| 9q subtelomeric deletion syndrome |
|
Microcephaly, Protruding tongue |
DECIPHER:52 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Trigonocephaly, Gingival overgrowth, Protruding tongue, Microcephaly, Short stature |
OMIM:619179 |
| Pierpont Syndrome |
|
Chiari malformation, Hearing impairment, Prominent fingertip pads, Widely spaced teeth, Large fle... |
OMIM:602342 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Juvenile Sialidosis Type 2 |
|
Low-set ears, Hearing impairment, Umbilical hernia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Fraser Syndrome 1 |
|
Low-set ears, Atresia of the external auditory canal, Abnormal middle ear morphology, Cutaneous f... |
OMIM:219000 |
| Walker-Warburg Syndrome |
|
Low-set ears, Bifid uvula, Anophthalmia, Submucous cleft hard palate, Metatarsus valgus, Protrudi... |
ORPHA:899 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Cessation of head growth, Widely spaced teeth, Secondary microcephaly, Protruding tongue, Wide mouth |
ORPHA:98795 |
| Pontocerebellar Hypoplasia, Type 3 |
|
High, narrow palate, Low-set ears, Cerebellar atrophy, Downturned corners of mouth, Long philtrum... |
OMIM:608027 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Low-set ears, Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Agenesis of ... |
ORPHA:228390 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Cessation of head growth, Widely spaced teeth, Secondary microcephaly, Protruding tongue, Wide mo... |
ORPHA:98794 |
| Trisomy 1Q |
|
Low-set ears, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Narrow mouth, A... |
ORPHA:261344 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Abnormal thumb morphology, Smooth philtrum, Everted lower lip vermilion, Overf... |
ORPHA:324410 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Macroglossia, Low-set ears, Protruding tongue |
OMIM:242860 |
| Craniosynostosis 6 |
|
Plagiocephaly, Cerebellar atrophy, Parietal foramina, Right unilambdoid synostosis, Bicoronal syn... |
OMIM:616602 |
| Mycophenolate Mofetil Embryopathy |
|
Tessier cleft, Atresia of the external auditory canal, Hearing impairment, Anotia, Orofacial clef... |
ORPHA:268249 |
| Clark-Baraitser Syndrome |
|
Low-set ears, Downturned corners of mouth, Long philtrum, Clinodactyly, Large earlobe, Sandal gap... |
OMIM:617752 |
| Acromelic Frontonasal Dysostosis |
|
Low-set ears, Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preax... |
OMIM:603671 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Anophthalmia, Solitary median maxillary central ... |
OMIM:147250 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Cerebellar atrophy, Hearing impairment, Protruding tongue, Microcephaly |
OMIM:619580 |
| 2Q32Q33 Microdeletion Syndrome |
|
Low-set ears, Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Narrow mouth, Oligod... |
ORPHA:251019 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Low-set ears, Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Microcephaly, Brac... |
OMIM:615834 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Downturned corners of mouth,... |
ORPHA:1327 |
| Achondrogenesis, Type Ia |
|
Low-set ears, Severe limb shortening, Abnormal femoral metaphysis morphology, Micromelia, Bowing ... |
OMIM:200600 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Postnatal growth retardation, Overlapping toe, Anal atresia, Hi... |
OMIM:613792 |
| Craniofacial Microsomia 2 |
|
Bifid uvula, Microtia, first degree, Microtia, second degree, Microtia, third degree, Submucous c... |
OMIM:620444 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the frontal bone, Conductive hearing impai... |
ORPHA:306542 |
| 3Mc Syndrome 3 |
|
Tessier cleft, Hearing impairment, Cleft upper lip, Clinodactyly, Auricular pit, Preaxial polydac... |
OMIM:248340 |
| Bresek Syndrome |
|
Low-set ears, Plagiocephaly, Hearing impairment, Intrauterine growth retardation, Protruding ear,... |
ORPHA:85284 |
| Bartsocas-Papas Syndrome 1 |
|
Low-set ears, Dry skin, Talipes equinovarus, Absent radius, Microphthalmia, Anal atresia, Short m... |
OMIM:263650 |
| Holoprosencephaly 1 |
|
Tessier cleft, Alobar holoprosencephaly, Proboscis, Median cleft palate, Cerebellar hypoplasia, M... |
OMIM:236100 |
| Supernumerary Nostril |
|
Tessier cleft |
ORPHA:141096 |
| Developmental And Epileptic Encephalopathy 31B |
|
Low-set ears, Secondary microcephaly, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Catel-Manzke Syndrome |
|
Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Radial deviation of th... |
ORPHA:1388 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Flat occiput, Hypoplasia of the pons, Bicoronal synostosis, Microcep... |
OMIM:618736 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Anophthalmi... |
ORPHA:139471 |
| Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
| Angelman Syndrome |
|
Widely spaced teeth, Delayed menarche, Protruding tongue, Microcephaly, Wide mouth, Flat occiput |
ORPHA:72 |
| Cornelia De Lange Syndrome 2 |
|
Small hand, Downturned corners of mouth, Clinodactyly, Postnatal growth retardation, Intrauterine... |
OMIM:300590 |
| Degcags Syndrome |
|
Low-set ears, Toe syndactyly, Hearing impairment, Genu valgum, Protruding tongue, Unilateral cond... |
OMIM:619488 |
| Constricting Bands, Congenital |
|
Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palat... |
OMIM:217100 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Tooth malposition, Ulnar deviation of finger, Low-set, posteriorly rotated ears, Furrowed tongue,... |
ORPHA:1387 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip... |
ORPHA:93323 |
| Monosomy 18P |
|
Tooth malposition, Carious teeth, Downturned corners of mouth, Macrotia, Abnormal antihelix morph... |
ORPHA:1598 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Low-set ears, Bifid uvula, Small hand, Cleft lip, Plagiocephaly, Downturned corners of mouth, Lon... |
OMIM:618089 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Abnormal antihelix morphology, Microphthalmia, Holoprosencephaly, Ab... |
ORPHA:2162 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Cupped ear, Broad hallux, Umbilical hernia, Clinodactyly of the 5th finger, Protrud... |
OMIM:617062 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Low-set ears, Toe syndactyly, Chiari malformation, Long philtrum, Umbilical hernia, Turricephaly,... |
ORPHA:171839 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Brachycephaly... |
OMIM:309545 |
| Cockayne Syndrome Type 2 |
|
Hearing impairment, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of t... |
ORPHA:90322 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Intrauterine growth retardation, Abnormal antihelix morphology, Tu... |
ORPHA:2145 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, U... |
OMIM:617751 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Hearing impairment, Clinodactyly, Sho... |
OMIM:602849 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Gm1-Gangliosidosis, Type Ii |
|
Gingival overgrowth, Narrow mouth, Protruding tongue, Limb undergrowth, Coxa valga |
OMIM:230600 |
| 6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Long philtrum, Camptodactyly of finger, Low-set, posteriorly rotated ears, Sensori... |
ORPHA:251056 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea... |
OMIM:614669 |
| Cleidocranial Dysplasia, Recessive Form |
|
Severe short stature, Brachycephaly |
OMIM:216330 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hearing impairment, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, M... |
ORPHA:77298 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Chiari malformation, Absent thumb, Short 1st metacarpal, Short thu... |
OMIM:609053 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Intrauterine growth retardation, Bowing of the long bones, Talipes equin... |
OMIM:614815 |
| Meckel Syndrome |
|
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Low-set,... |
ORPHA:564 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Downturned corners of mouth, Large fleshy ears, Thin upper lip vermilion, Cerebellar hypoplasia, ... |
ORPHA:352530 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... |
ORPHA:3104 |
| Cornelia De Lange Syndrome 5 |
|
Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Hear... |
OMIM:300882 |
| Primary Lateral Sclerosis, Juvenile |
|
Difficulty in tongue movements, Pallor |
OMIM:606353 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Chiari malformation, Conductive hearing impairment, Abnormal palate morphology, Turricephaly, Bra... |
ORPHA:93262 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Anotia, Intrauterine growth retardation, Anophthalmia, Tracheoesophageal ... |
ORPHA:3412 |
| Down Syndrome |
|
Conductive hearing impairment, Clinodactyly, Sandal gap, Duodenal stenosis, Protruding tongue, Re... |
OMIM:190685 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Low-set ears, Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, High palate, Dolichocephaly... |
OMIM:615433 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Brachydactyly, Hearing impairment, Metacarpal synostosis |
ORPHA:35099 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Dental crowding, Cerebellar atrophy, Microcephaly, Brachycephaly, Short stature |
ORPHA:320385 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Low-set ears, Postnatal growth retardation, Intrauterine growth retardation, Thin upper lip vermi... |
OMIM:615419 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
2-3 toe cutaneous syndactyly, Broad thumb, Widely spaced teeth, Dry skin, Premature loss of prima... |
OMIM:617364 |
| Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Underdeveloped tragus, Anophthalmia, Bilateral cleft palate, Short hard... |
OMIM:610829 |
| Craniofrontonasal Dysplasia |
|
Abnormality of the dentition, Plagiocephaly, Finger syndactyly, Sandal gap, Camptodactyly of fing... |
ORPHA:1520 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Low-set ears, Hearing impairment, Clinodactyly, Frontal bossing, Recurrent otitis media, Intraute... |
OMIM:613604 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hearing impairment, Overlapping toe, Open mouth, Irregular dentition, Encephalocele, Talipes equi... |
OMIM:619148 |
| Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Rhizomelia, Neonatal short-limb short stature, Natal tooth, Metaphyseal cupping, Lo... |
ORPHA:50945 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Low-set ears, Clinodactyly, Genu valgum, Open mouth, Protruding tongue, Sensorineural hearing imp... |
OMIM:309580 |
| Crouzon Syndrome |
|
Chiari malformation, Conductive hearing impairment, Hearing impairment, Multiple suture craniosyn... |
ORPHA:207 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Low-set, posteriorly rotated ears, I... |
ORPHA:1908 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Plagiocephaly, Downturned corners of mouth, Bilateral microphthalmos, Umbilical her... |
ORPHA:369891 |
| Pallister-Hall-Like Syndrome |
|
Microglossia, Occipital encephalocele, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Me... |
OMIM:241800 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Ulnar deviation of finger, Plagiocephaly, Long philtrum, Umbilical hernia, C... |
ORPHA:1101 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Low-set ears, Plagiocephaly, Intestinal malrotation, Microcephaly, Orofacial cleft, Deep philtrum... |
ORPHA:77300 |
| Cyclic Vomiting Syndrome |
|
Microcephaly, Growth delay, Hearing impairment, Pallor |
OMIM:500007 |
| Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Skull asymmetry, Agenesis of cerebellar vermis, Fusio... |
OMIM:601853 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Low-set ears, Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Open mouth, Thin u... |
OMIM:616801 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Hearing impairment, Cleft upper lip, Abnormal digit morphology, Palmoplantar cutis laxa, Brachyce... |
OMIM:268850 |
| Bilateral Perisylvian Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hearing impairment, Cerebellar dysplasia, Intrauterine growth retar... |
ORPHA:98889 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr... |
OMIM:614416 |
| Alg3-Cdg |
|
Hearing impairment, Hypoplasia of the pons, Metaphyseal chondrodysplasia, Abnormal pinna morpholo... |
ORPHA:79321 |
| Potocki-Shaffer Syndrome |
|
Downturned corners of mouth, Parietal foramina, Turricephaly, Brachycephaly, 2-5 finger cutaneous... |
OMIM:601224 |
| Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Pallor |
ORPHA:517 |
| Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Bowing of the long... |
OMIM:611134 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda... |
ORPHA:1106 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Chiari type I malformation, Brachycephaly, Hydrocephalus, Abnormal location o... |
OMIM:218350 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Low-set ears, Clinodactyly, Thick upper lip vermilion, Narrow mouth, Short lingual frenulum, Plag... |
OMIM:617360 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
| Chopra-Amiel-Gordon Syndrome |
|
Cleft lip, Postnatal growth retardation, Thin upper lip vermilion, Smooth philtrum, Brachycephaly... |
OMIM:619504 |
| Developmental And Epileptic Encephalopathy 100 |
|
Small hand, Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Microdontia, Bila... |
OMIM:619777 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Downturned corners of mouth, Ectopic anus, Aplasia/Hypoplasia of the distal phalan... |
ORPHA:94066 |
| Auriculocondylar Syndrome 4 |
|
Hearing impairment, Question mark ear, Narrow mouth, Glossoptosis, Cleft palate |
OMIM:620457 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Small hand, Mild hearing impairment, Widely spaced te... |
ORPHA:459061 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Low-set ears, Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Encephalo... |
ORPHA:2211 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Plagiocephaly, Microcephaly, Everted lower lip vermilion, Growth delay |
OMIM:617768 |
| Coffin-Siris Syndrome 6 |
|
High, narrow palate, Low-set ears, Plagiocephaly, Conductive hearing impairment, Clinodactyly, Fr... |
OMIM:617808 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Chiari type I malformation, Brachycephaly, Deep philtrum, Downturned corners of mouth |
OMIM:618859 |
| Pentasomy X |
|
Small hand, Plagiocephaly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Radioulnar... |
ORPHA:11 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Sensorineural hearing impairment |
OMIM:612989 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Downturned corners of mouth, Tooth agenesis, Macrodontia, Protruding ear, Cerebell... |
OMIM:618731 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Cerebellar atrophy, Protruding ear, Talipes equinovarus, Microcephaly, Narrow pala... |
OMIM:617481 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Low-set ears, Small hand, Plagiocephaly, Conductive hearing impairment, Downturned corners of mou... |
OMIM:618672 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Thickened calvaria, Craniosynostosis, Brachycephaly, Hearing impairment |
ORPHA:178377 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Clinodactyly of the 2nd finger, Facial wrinkling, Open mouth, Sensorineural he... |
ORPHA:93932 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Low-set ears, Thin upper lip vermilion, Brachycephaly, Short stature, Craniosynostosis, High pala... |
ORPHA:314575 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Lobar holoprosencephaly, Synda... |
OMIM:614701 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Recombinant Chromosome 8 Syndrome |
|
Low-set ears, Abnormality of the dentition, Downturned corners of mouth, Hearing impairment, Thic... |
OMIM:179613 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Low-set ears, Broad thumb, Flat occiput, Hearing impairment, Long philtrum, Intrauterine growth r... |
OMIM:617452 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Camptodactyly of finger, Intrauterine growth retardation, Brachycephaly, Hydroceph... |
ORPHA:272 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Clinodactyly, Long philtrum, Unilambdoid synostosis, Brachycephaly, Hydrocephalus,... |
OMIM:618577 |
| Seckel Syndrome 2 |
|
Microglossia, Microdontia, Cerebellar hypoplasia, Microcephaly, Cerebellar calcifications, Primar... |
OMIM:606744 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Protruding tongue, Pontocerebellar atrophy |
ORPHA:258 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Esophagitis, Anophthalmia, Perineal fistula, Abnormal metacarpal morphology, Rectal atresia, Abno... |
ORPHA:2538 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Severe short stature, High, narrow palate, Bifid uvula, Low-set ears, Conductive hearing impairme... |
ORPHA:2780 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microc... |
OMIM:620688 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Microcephaly, Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
| Al Kaissi Syndrome |
|
High, narrow palate, Low-set ears, Small hand, Clinodactyly, Long philtrum, Postnatal growth reta... |
OMIM:617694 |
| Cebalid Syndrome |
|
Low-set ears, Plagiocephaly, Platystencephaly, Hearing impairment, Turricephaly, Brachycephaly, D... |
OMIM:618774 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Plagiocephaly, Abnormal earlobe morphology, Umbilical hernia, Recurrent otitis ... |
ORPHA:500159 |
| Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Intrauterine growth retardation, Prominent occiput, Brachycephaly, Hydrocephalus, A... |
OMIM:220210 |
| Orofaciodigital Syndrome Xix |
|
Low-set ears, Carious teeth, Toe syndactyly, Postaxial foot polydactyly, Cleft soft palate, Narro... |
OMIM:620107 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Long philtrum, Aplasia/Hypoplasia ... |
ORPHA:505237 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Low-set ears, Toe syndactyly, Broad thumb, Open mouth, Narrow mouth, Everted lower lip vermilion,... |
OMIM:619720 |
| Fraser Syndrome |
|
Toe syndactyly, Atresia of the external auditory canal, Finger syndactyly, Encephalocele, Anophth... |
ORPHA:2052 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Microphthalmia, Syndromic 6 |
|
Low-set ears, Lambdoidal craniosynostosis, Inferior cerebellar vermis hypoplasia, Toe syndactyly,... |
OMIM:607932 |
| Microphthalmia, Syndromic 2 |
|
Hand clenching, Anophthalmia, Sensorineural hearing impairment, Contracture of the proximal inter... |
OMIM:300166 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Low-set ears, Preaxial polydactyly, Overlapping toe, Intrauterine growth retardation, Overlapping... |
OMIM:618142 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Tooth malposition, Plagiocephaly, Microcephaly, Brachycephaly, High palate, Cleft palate |
OMIM:618603 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Severe short stature, Unilateral cleft lip, Abnormal thumb morphology, Microcephaly, Brachycephal... |
ORPHA:2511 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Low-set ears, Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, Long ... |
OMIM:615761 |
| 14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Cupped ear, Downturned corners of mouth, Hearing impairment, Atresia of the exter... |
ORPHA:264200 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Hypoplasia of the pons, Postnatal growth retardation, Sensorine... |
OMIM:612513 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor, Sensorineural hearing impairment |
ORPHA:49827 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Postnatal grow... |
ORPHA:138 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Broad thumb, Plagiocephaly, Hearing impairment, Long philtrum, Prominent fingertip pads, Genu val... |
OMIM:619721 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Toe syndactyly, Chiari malformation, Anophthalmia, Microphthalmia, Foot polydactyly... |
OMIM:305600 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Plummer-Vinson Syndrome |
|
Narrow mouth, Pallor, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue ... |
ORPHA:54028 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Plagiocephaly, Clinodactyly, Frontal bossing, Open mouth, Talipes equinovarus, Brac... |
OMIM:616789 |
| Potocki-Shaffer Syndrome |
|
Downturned corners of mouth, Parietal foramina, Brachycephaly, Delayed puberty, Short philtrum |
ORPHA:52022 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Hearing impairment, Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Aplasia/H... |
ORPHA:137634 |
| Hallermann-Streiff Syndrome |
|
Low-set ears, Natal tooth, Dry skin, Narrow mouth, Everted lower lip vermilion, Microphthalmia, H... |
OMIM:234100 |
| Matthew-Wood Syndrome |
|
Low-set ears, Duodenal stenosis, Intrauterine growth retardation, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Brachycephaly |
OMIM:620200 |
| Myopathic Ehlers-Danlos Syndrome |
|
High, narrow palate, Pallor, Talipes equinovarus, Adducted thumb, Congenital finger flexion contr... |
ORPHA:536516 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Frontal bo... |
ORPHA:163649 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Low-set ears, Plagiocephaly, Oligodontia, Thin upper lip vermilion, Short stature, Frontal bossing |
OMIM:618330 |
| 19P13.12 Microdeletion Syndrome |
|
Low-set ears, Toe clinodactyly, Conductive hearing impairment, Finger syndactyly, Long philtrum, ... |
ORPHA:254346 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Bilateral cleft palate, Microphthalmia, Holoprosencephaly, Lobar holopr... |
OMIM:610828 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Diastema, Short philtrum, Brachycephaly, Hydrocephalus, Short statu... |
OMIM:609757 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Microcephaly, Brachycephaly, Dental crowding |
OMIM:615031 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Microphthalmia, Short stature, Cleft palate, Optic nerve hypoplasia |
OMIM:610125 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Low-set ears, Brachycephaly, Frontal bossing, Bilateral sensorineural hearing impairment |
OMIM:264470 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Fractured radius, Unilateral cleft lip, Flared metaphysis, Large fleshy ears, Decre... |
OMIM:616897 |
| Acrofrontofacionasal Dysostosis 2 |
|
Low-set ears, Broad thumb, Broad hallux, Redundant neck skin, Microcephaly, Hand polydactyly, Bra... |
OMIM:239710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Brachycephaly |
OMIM:300699 |
| Prune1-Related Neurological Syndrome |
|
Low-set ears, Tongue fasciculations, Plagiocephaly, Cerebellar atrophy, Microcephaly, Bilateral t... |
ORPHA:544469 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Dee... |
OMIM:605282 |
| Fetal Trimethadione Syndrome |
|
Low-set ears, Abnormal helix morphology, Intrauterine growth retardation, Microcephaly, Brachycep... |
ORPHA:1913 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Long philtrum, Narrow mouth, Protruding ear, Arachnodactyly, Talipes equinovarus... |
OMIM:615539 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Low-set ears, Plagiocephaly, Cupped ear, Prominent fingertip pads, Thin upper lip vermilion, Smoo... |
OMIM:619188 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Pallor, Syndactyly |
OMIM:615631 |
| Kury-Isidor Syndrome |
|
Low-set ears, Finger syndactyly, Long philtrum, Widely spaced teeth, Recurrent otitis media, Fron... |
OMIM:619762 |
| Distal Deletion 10Q |
|
Low-set ears, Inferior cerebellar vermis hypoplasia, Clinodactyly, Postnatal growth retardation, ... |
ORPHA:96148 |
| Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Spina bifida occulta, Brachycephaly, Finger syndactyly |
ORPHA:1514 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Low-set ears, Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Talipes equinovaru... |
OMIM:219150 |
| Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Hearing impairment, Widely spaced primary teeth, Postnatal growth r... |
ORPHA:90321 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Plagiocephaly, Natal tooth, Hearing impairment, Umbilical hernia, T... |
ORPHA:261652 |
| Larsen-Like Syndrome |
|
Low-set ears, Dental malocclusion, Conductive hearing impairment, Recurrent otitis media, Radial ... |
OMIM:608545 |
| 2Q23.1 Microdeletion Syndrome |
|
Sandal gap, Macrodontia, Open mouth, Tented upper lip vermilion, Microcephaly, Brachycephaly, Eve... |
ORPHA:228402 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Low-set ears, Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned... |
ORPHA:404440 |
| Sporadic Fetal Brain Disruption Sequence |
|
Microcephaly, Plagiocephaly, Prominent occiput |
ORPHA:1665 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Microcephaly, Brachycephaly, Short stature, Anal atresia, Macrotia |
ORPHA:93950 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Retrocerebellar cyst, Patellar hypoplasia, Preaxial foot polydac... |
ORPHA:1827 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Abnormally large globe, Plagiocephaly, Downturned corners of mout... |
OMIM:239300 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Tessier cleft, Disproportionate short-limb short stature, Micromelia, Long philtrum, Cleft upper ... |
ORPHA:93271 |
| Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, Anal atresia, Neu... |
OMIM:119580 |
| 8Q12 Microduplication Syndrome |
|
Long philtrum, Narrow mouth, Sensorineural hearing impairment, Brachycephaly, Everted lower lip v... |
ORPHA:228399 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Low-set ears, Dental crowding, Cleft upper lip, Umbilical hernia, Frontal bossing, Abnormal denta... |
OMIM:612582 |
| Cleidocranial Dysplasia |
|
Carious teeth, Hearing impairment, Open bite, Genu valgum, Abnormal metacarpal morphology, Chroni... |
ORPHA:1452 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Short distal phalanx of finger, Plagiocephaly, Dental malocclusion, Chiari malforma... |
OMIM:619293 |
| Orofaciodigital Syndrome I |
|
Low-set ears, Carious teeth, Hearing impairment, Clinodactyly, Ankyloglossia, High palate, Syndac... |
OMIM:311200 |
| German Syndrome |
|
Camptodactyly of finger, Open mouth, Orofacial cleft, Brachycephaly, Everted lower lip vermilion,... |
ORPHA:2077 |
| Stevenson-Carey Syndrome |
|
Low-set ears, Downturned corners of mouth, Narrow mouth, Cerebellar hypoplasia, Brachycephaly, Mi... |
OMIM:611961 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Plagiocephaly, Hearing impairment, Intrauterine growth retardation, Tented upper lip vermilion, E... |
OMIM:619833 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
| Lessel-Kreienkamp Syndrome |
|
Hypoplastic helices, Plagiocephaly, Dental malocclusion, Hearing impairment, Scaphocephaly, Clino... |
OMIM:619149 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra... |
OMIM:604757 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Small hand, Plagiocephaly, Frontal bossing, Low-set, posteriorly rotated ears, Intrauterine growt... |
ORPHA:371364 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Coxa valga, Adducted thumb, Short stature, Advanced ossification of carpal bo... |
OMIM:620269 |
| Developmental And Epileptic Encephalopathy 65 |
|
Microcephaly, Plagiocephaly, Tented upper lip vermilion, Cerebellar atrophy |
OMIM:618008 |
| Orofaciodigital Syndrome Xv |
|
Low-set ears, Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Broad hallux, ... |
OMIM:617127 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Microcephaly, Delayed puberty, High palate, Growth delay |
OMIM:600462 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
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Cerebellar vermis hypoplasia, Plagiocephaly, Microcephaly, Short foot, Short palm |
OMIM:614563 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
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Low-set ears, Long philtrum, Cerebellar vermis atrophy, Narrow mouth, Microcephaly, Brachycephaly... |
OMIM:156610 |
| Orofaciodigital Syndrome Type 5 |
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Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef... |
ORPHA:2919 |
| Carpenter Syndrome 1 |
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Low-set ears, Lambdoidal craniosynostosis, Toe syndactyly, Genu valgum, Sensorineural hearing imp... |
OMIM:201000 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft... |
OMIM:602483 |
| Pelvis-Shoulder Dysplasia |
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Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Bilateral microphthalmos... |
ORPHA:2839 |
| Pde4D Haploinsufficiency Syndrome |
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Hearing impairment, Postnatal growth retardation, Broad phalanx, Bilateral coxa valga, Short meta... |
ORPHA:439822 |
| X-Linked Sideroblastic Anemia |
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Pallor |
ORPHA:75563 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Long philtrum, Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Microcephaly, ... |
ORPHA:1292 |
| Lymphatic Malformation 7 |
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Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Trisomy 8Q |
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Camptodactyly of finger, Myelomeningocele, Low-set, posteriorly rotated ears, Protruding ear, Abn... |
ORPHA:1752 |
| Muenke Syndrome |
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High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Carpal synostosis, Sensorineural he... |
ORPHA:53271 |
| Leishmaniasis |
|
Abnormal oral mucosa morphology, Abnormal oral cavity morphology, Pallor, Skin ulcer |
ORPHA:507 |
| Microphthalmia, Isolated 8 |
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True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Congenital Heart Block |
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Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Laurence-Moon Syndrome |
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Finger syndactyly, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormal ... |
ORPHA:2377 |
| Congenital Disorder Of Glycosylation, Type Iig |
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Low-set ears, Small hand, Postnatal growth retardation, Narrow mouth, Talipes equinovarus, High p... |
OMIM:611209 |
| Trisomy 20P |
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Finger syndactyly, Abnormal antihelix morphology, Everted lower lip vermilion, Macrotia, Plagioce... |
ORPHA:261318 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
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Short 5th finger, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Long philtrum, Short thumb... |
OMIM:618821 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Bifid uvula, Hearing impairment, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate |
OMIM:300958 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Cerebellar hypoplasia, Secondary microcephaly, Pallor |
OMIM:613839 |
| Pseudodiastrophic Dysplasia |
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Severe short stature, Rhizomelia, Smooth philtrum, Phalangeal dislocation, Talipes equinovarus, B... |
OMIM:264180 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
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Chiari type I malformation, Plagiocephaly |
ORPHA:459074 |
| Lymphangiectasia, Pulmonary, Congenital |
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Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Mild postnatal growth retardation, Pleural... |
OMIM:265300 |
| Isolated Arrhinia |
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Tessier cleft, Microtia, Microphthalmia |
ORPHA:1134 |
| Congenital Disorder Of Glycosylation, Type Iq |
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Low-set ears, Cerebellar vermis hypoplasia, Dry skin, Brachycephaly, Cutis laxa, Microphthalmia |
OMIM:612379 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
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Pulmonary edema, Edema |
OMIM:178400 |
| Pfeiffer Syndrome Type 1 |
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Low-set ears, Toe syndactyly, Broad thumb, Hearing impairment, Finger syndactyly, Bicoronal synos... |
ORPHA:93258 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
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Low-set ears, Plagiocephaly, Umbilical hernia, Open mouth, Tented upper lip vermilion, Thin upper... |
OMIM:616579 |
| Branchiooculofacial Syndrome |
|
Low-set ears, Hearing impairment, Postnatal growth retardation, Anophthalmia, Sensorineural heari... |
OMIM:113620 |
| 3P25.3 Microdeletion Syndrome |
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High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Overlapping toe, Sen... |
ORPHA:435638 |
| Inverted Duplicated Chromosome 15 Syndrome |
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Low-set, posteriorly rotated ears, 2-3 toe syndactyly, Talipes equinovarus, Brachycephaly, Microc... |
ORPHA:3306 |
| Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Sensorineural hearing impairment... |
OMIM:206900 |
| Lujan-Fryns Syndrome |
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Low-set ears, Abnormality of the dentition, Dental crowding, Camptodactyly of finger, Protruding ... |
ORPHA:776 |
| Chromosome 17P13.1 Deletion Syndrome |
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High, narrow palate, Plagiocephaly, Broad hallux, Umbilical hernia, Long hallux, Turricephaly, Sh... |
OMIM:613776 |
| Wieacker-Wolff Syndrome, Female-Restricted |
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Low-set ears, Radial deviation of the hand, Downturned corners of mouth, Long philtrum, Talipes e... |
OMIM:301041 |
| Opitz-Kaveggia Syndrome |
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Broad thumb, Clinodactyly, Facial wrinkling, Sensorineural hearing impairment, Anal atresia, Synd... |
OMIM:305450 |
| Smith-Magenis Syndrome |
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Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insufficiency, Hearing ... |
OMIM:182290 |
| Retinitis Pigmentosa 51 |
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Pallor, Polydactyly |
OMIM:613464 |
| Grant Syndrome |
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Open bite, Abnormal palate morphology, Bowing of the long bones, Brachycephaly, Short stature, Fr... |
ORPHA:2097 |
| Ritscher-Schinzel Syndrome 4 |
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Plagiocephaly, Thick vermilion border, Short philtrum, Cerebellar hypoplasia, Brachycephaly, Ulna... |
OMIM:619435 |
| Holzgreve Syndrome |
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