| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia, M... |
OMIM:600776 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Broad proximal phalanges of th... |
OMIM:607597 |
| Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Non-midline cleft lip, Aplasia/Hyp... |
ORPHA:1104 |
| Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Postaxial hand polydactyly, Brachycephaly, Facia... |
ORPHA:66625 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Protruding tongue, Sensorineural hearing impairment, Hydrocephalus, Alveolar ridge... |
OMIM:612938 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior... |
OMIM:601357 |
| Acrofacial Dysostosis, Weyers Type |
|
Overlapping fingers, Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Sma... |
ORPHA:952 |
| Frontonasal Dysplasia 3 |
|
Posteriorly rotated ears, Facial cleft, Brachycephaly, Cleft palate, Low-set ears, Microphthalmia |
OMIM:613456 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Non-midline cleft lip, Brachycephaly, Cleft palate, Facial cleft, M... |
ORPHA:1791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Abnormality... |
ORPHA:1786 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Microcephaly, Cleft palate... |
OMIM:613885 |
| Oculomaxillofacial Dysostosis |
|
Median cleft lip, Short stature, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, External ear malformat... |
ORPHA:1647 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia |
OMIM:611638 |
| Down Syndrome |
|
Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the dentition, Conductive he... |
ORPHA:870 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Short stature, Posteriorly rotated ears, Protruding tongue, Diastema, Microcephaly, ... |
OMIM:212066 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Short stature, Posteriorly rotated ears, Protruding tongue, Microcephaly, Submuc... |
OMIM:618106 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, Microcephaly, 2-3 toe syndactyly, Growth delay, Large hands, Thick vermilion b... |
ORPHA:1446 |
| Raine Syndrome |
|
Micromelia, Brachycephaly, Protruding ear, High palate, Microdontia, Long hallux, Short stature, ... |
OMIM:259775 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Cerebellar vermis hypoplasia, Agenesis of cerebell... |
OMIM:613451 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Microcephaly, Cleft upper lip, Facial cleft, Cleft palate, 2-3 toe syndactyly, Microtia, Short 5t... |
OMIM:239800 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Protruding tongue, Microcephaly, Cli... |
OMIM:213300 |
| Mosaic Trisomy 9 |
|
Intestinal malrotation, Spina bifida, Microcephaly, Micromelia, Rocker bottom foot, Camptodactyly... |
ORPHA:99776 |
| 9q subtelomeric deletion syndrome |
|
Microcephaly, Midface retrusion, Protruding tongue |
DECIPHER:52 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia, Dandy-Walker malformation |
OMIM:164180 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Brachydactyly, Abnormal pinna morphology, Persistence of primary teeth, Protruding t... |
OMIM:610253 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth, Low-set ears, Dr... |
OMIM:618797 |
| Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe... |
OMIM:618580 |
| Treacher-Collins Syndrome |
|
Brachycephaly, Glossoptosis, High palate, Conductive hearing impairment, Encephalocele, Branchial... |
ORPHA:861 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Widely-spaced maxillary central incisors, Tapered finger, Diastema, Microtia, Thick vermilion bor... |
OMIM:301040 |
| Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Edema |
OMIM:189800 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... |
OMIM:311895 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High pala... |
OMIM:605627 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyly, Low-... |
ORPHA:93400 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Hydrocephalus, Submucous cleft hard ... |
ORPHA:2189 |
| Trisomy 13 |
|
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Sensorineural ... |
ORPHA:3378 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Overlapping fingers, Short stature, Protruding tongue, Narrow mouth, Sensorin... |
OMIM:608779 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Frontal bossing, Camptodactyly of finger, Lip pit, Microcephaly, Tapered finger, Brachycephaly, F... |
ORPHA:1236 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Posteriorly rotated ears, Protruding tongue, Microcephaly, Prominent crus of ... |
OMIM:617804 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Protruding tongue, Microcephaly, Brachycephaly, Downturned corners of mouth, Macrog... |
ORPHA:96147 |
| Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Median cleft lip, Midline facial cleft, Cleft palate, Dolichocephaly |
ORPHA:3374 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Hypoplasia of the pons, Prominent ear helix, Large earlob... |
ORPHA:411986 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5t... |
OMIM:206920 |
| Icf Syndrome |
|
Communicating hydrocephalus, Short stature, Malabsorption, Protruding tongue, Macroglossia, Low-s... |
ORPHA:2268 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydroc... |
ORPHA:1532 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Cerebellar hy... |
ORPHA:561 |
| Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Redundant skin, High, narrow palate, Brachycephaly, Anteriorly plac... |
OMIM:612289 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Postnatal g... |
OMIM:300963 |
| Angelman Syndrome |
|
Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth, Se... |
OMIM:105830 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Small earlobe, Severe periodontitis, Short stature, Overlapping toe, Protruding tongue, Microceph... |
ORPHA:99843 |
| Angelman Syndrome Due To A Point Mutation |
|
Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secon... |
ORPHA:411511 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Redundant neck skin, Posteriorly rotated ears, Rocker bottom foot, Protruding tongu... |
OMIM:214100 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Microcephaly, Protruding tongue, Gingival overgrowth, Long philtrum, Trigonocephaly |
OMIM:619179 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Parietal foramina, Midline fa... |
OMIM:603671 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Juvenile Sialidosis Type 2 |
|
Protruding tongue, Gingival overgrowth, Low-set ears, Umbilical hernia, Hearing impairment |
ORPHA:93399 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Cutaneous finger syndactyly, Cond... |
OMIM:219000 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Uplifted earlobe, Hearing im... |
ORPHA:487825 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Malabsorption, Protruding tongue, Macroglossia, Low-set ears |
OMIM:242860 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secondary microcephaly |
ORPHA:98795 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secon... |
ORPHA:98794 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Abnormal thumb morphology, Everted lower lip vermilion, Overfolded helix, Macr... |
ORPHA:324410 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Posteriorly rotated ears, Microcephaly, Hydrocephalus, Submucous cleft hard palate,... |
ORPHA:899 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Short stature, Microcephaly, Brachycephaly, Growth delay, High palate, Narrow mouth, Microphthalmia |
ORPHA:2528 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Short stature, Cleft upper lip, Microcephaly, Prominent median palatal raphe, Holop... |
OMIM:147250 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Facial cleft, Tracheoesophageal fistula, Orofacial cleft, Anotia, Microtia, Atresi... |
ORPHA:268249 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Microcephaly, Protruding tongue, Hand clenching, Hearing impairment |
OMIM:619580 |
| Trisomy 1Q |
|
Frontal bossing, Anophthalmia, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Preaxial ... |
ORPHA:261344 |
| Holoprosencephaly 1 |
|
Short stature, Proboscis, Microcephaly, Alobar holoprosencephaly, Facial cleft, Cerebellar hypopl... |
OMIM:236100 |
| 3Mc Syndrome 3 |
|
Short stature, Abnormal pinna morphology, Cleft upper lip, Preaxial polydactyly, Facial cleft, Cl... |
OMIM:248340 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Turricephaly, Micromelia, Protruding tongue, Bowing of th... |
OMIM:200600 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing impairment, Facial... |
ORPHA:306542 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Syndactyly, Short metacarpal, Cleft upper lip, Short thumb, Ulnar bowing... |
OMIM:263650 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Developmental And Epileptic Encephalopathy 31B |
|
Secondary microcephaly, Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:620352 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Sensorineural hearing... |
ORPHA:139471 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Angelman Syndrome |
|
Flat occiput, Microcephaly, Protruding tongue, Wide mouth, Widely spaced teeth, Delayed menarche |
ORPHA:72 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Broad hallux, Microcephaly, Protruding tongue, Cupped ear, High palate,... |
OMIM:617062 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes... |
OMIM:217100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyl... |
ORPHA:93323 |
| Degcags Syndrome |
|
High palate, Pallor, Syndactyly, Hiatus hernia, Short thumb, Thick vermilion border, Low-set ears... |
OMIM:619488 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Short stature, Posterior... |
OMIM:600325 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Intrauterine growth retardat... |
ORPHA:90322 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Conical tooth, Abnormality of the ... |
ORPHA:228390 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal distal phalanx morphology of finger, M... |
ORPHA:1387 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Holoprosencephaly |
|
Flat occiput, Anophthalmia, Deep philtrum, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellu... |
ORPHA:2162 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth |
OMIM:230600 |
| Holoprosencephaly 9 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft upper lip, Microcephaly, Hydrocephalus... |
OMIM:610829 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Brachycephaly, Downturned corners of mouth, High palate, Low-set, posteriorly r... |
ORPHA:1327 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Holopro... |
ORPHA:77298 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Pari... |
OMIM:616602 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Absent thumb, Short thumb, Hypoplasia of the... |
OMIM:609053 |
| Primary Lateral Sclerosis, Juvenile |
|
Difficulty in tongue movements, Pallor |
OMIM:606353 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Metatarsus valgus, Rad... |
ORPHA:1388 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Short stature,... |
OMIM:309580 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydr... |
ORPHA:3412 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Down Syndrome |
|
Redundant neck skin, Aganglionic megacolon, Short stature, Sandal gap, Protruding tongue, Brachyc... |
OMIM:190685 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism, Calvarial skull defect |
ORPHA:1114 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Protruding tongue, Flared me... |
ORPHA:50945 |
| Meckel Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Bowing of the long bones, Anophthalmia, Aplasia... |
ORPHA:564 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Microglossia, Den... |
OMIM:614669 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Thin upper lip vermilion, Brachydactyly, Short stature, Posteriorly rotated ears... |
OMIM:613604 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ... |
OMIM:618736 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor, Hearing impairment, Microcephaly |
OMIM:500007 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Postaxial polyd... |
OMIM:614815 |
| Bilateral Perisylvian Polymicrogyria |
|
Cerebellar dysplasia, Cerebellar vermis hypoplasia, Microcephaly, Protruding tongue, Intrauterine... |
ORPHA:98889 |
| Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Pallor |
ORPHA:517 |
| Alg3-Cdg |
|
Abnormal pinna morphology, Microcephaly, Hypoplasia of the pons, Metaphyseal chondrodysplasia, Ab... |
ORPHA:79321 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Dolichocephaly, High, narrow palate, Ulnar deviation of fi... |
ORPHA:1101 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Hearing impairment, Microcephaly, Hydrocephalus, P... |
ORPHA:85284 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Bilateral camptodactyly, Small hand, Gingival over... |
OMIM:619777 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Short stature, Toe syndactyly, Micromelia, Microcephal... |
OMIM:241800 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Sensorineural hearing impairment, Pallor |
OMIM:612989 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:1908 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Clinodactyly of ... |
ORPHA:1106 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, P... |
ORPHA:2211 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Pontocerebellar atrophy, Protruding tongue |
ORPHA:258 |
| Monosomy 18P |
|
Short stature, Microcephaly, Carious teeth, Brachycephaly, Cleft palate, Protruding ear, Downturn... |
ORPHA:1598 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Narrow palate, Multiple suture crani... |
ORPHA:207 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormal finger morphology, Microgastria, Hiatus hernia, Abnormality of the humerus... |
ORPHA:2538 |
| Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Turricephaly, Cerebellar vermis hypoplasia, Short stature, ... |
OMIM:601853 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Uplifted earlobe, Brachycephaly, Protruding ear, High palate, Clinodactyly of the 5... |
OMIM:607932 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Short stature, Posteriorly rotated ears, To... |
ORPHA:264200 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... |
ORPHA:54028 |
| Fraser Syndrome |
|
Anophthalmia, Dental crowding, Orofacial cleft, High palate, Conductive hearing impairment, Encep... |
ORPHA:2052 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Brachycephaly... |
ORPHA:93262 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Pyloric stenosis, Hydrocephalus, Brachycephaly, Chiari type I mal... |
OMIM:218350 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Duodenal stenosis, Low-set ears, Microphthalmia, Intrauterine growth retardation |
ORPHA:2470 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Short stature, Pallor |
ORPHA:49827 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Short stature, Craniosynostosis, Micromelia, Split hand, Brachyc... |
ORPHA:2145 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tapered finger, High, narrow palate, Talipes equinovarus, Pallor, Congenital finger flexion contr... |
ORPHA:536516 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Brachycephaly, Anteriorly placed anus, High pala... |
OMIM:619148 |
| Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular cana... |
ORPHA:138 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligodontia, Foot ol... |
OMIM:305600 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contractur... |
OMIM:300166 |
| Seckel Syndrome 2 |
|
Short stature, Microcephaly, Growth delay, Cerebellar hypoplasia, Clinodactyly of the 5th finger,... |
OMIM:606744 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Syndactyly, Short stature, Pallor |
OMIM:615631 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Delayed eruption of primary teeth, Abnormality... |
ORPHA:90321 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar vermis hypoplasia, Glossoptosis, High palate, Conductive hearing impairment, Short sta... |
OMIM:611209 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Frontal bossing, Dandy-Walker malformation, Micromelia, Cleft upper lip, Esophageal a... |
ORPHA:93271 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... |
OMIM:119580 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of... |
OMIM:617127 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Underfolded helix, Cleft... |
OMIM:620107 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Microcephaly, Growth delay, High palate, Pallor, Delayed puberty |
OMIM:600462 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Leishmaniasis |
|
Pallor, Abnormal oral mucosa morphology, Skin ulcer, Abnormal oral cavity morphology |
ORPHA:507 |
| Isolated Arrhinia |
|
Microphthalmia, Microtia, Facial cleft |
ORPHA:1134 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Tongue atrophy, Talipes equinovarus |
ORPHA:496689 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Cerebellar hypoplasia, Secondary microcephaly, Pallor |
OMIM:613839 |
| Fg Syndrome Type 1 |
|
Dental crowding, Fused teeth, High palate, Finger syndactyly, Short stature, Malrotation of colon... |
ORPHA:93932 |
| Microphthalmia, Syndromic 5 |
|
Anophthalmia, Short stature, Optic nerve hypoplasia, Cleft palate, Microphthalmia |
OMIM:610125 |
| Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Short stature, Optic nerve hypoplasia, Microc... |
OMIM:206900 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Short stature, Hamartoma of tongue, Cleft upper lip, S... |
OMIM:311200 |
| Hartnup Disorder |
|
Glossitis, Short stature |
OMIM:234500 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Short stature, Craniosynostosis, Pyloric stenosis, Bra... |
ORPHA:314575 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Short stature, Abnormal pinna morphology, Spina bifida, Mesomelic/rhizomelic limb sho... |
ORPHA:2839 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Proximal placement of thumb, Conductive hearing impairment, Clinodactyly of the 5th... |
OMIM:113620 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of ca... |
OMIM:620269 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth... |
ORPHA:2919 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, 2-3 toe syndactyly, Downturned corners of mou... |
OMIM:613443 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Dandy-Walker malformation, Rhizomelia, Hamartoma of tongue, Postaxial... |
OMIM:616300 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Sensorineural he... |
ORPHA:440354 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, Short stature, 2-3 toe synd... |
OMIM:614701 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Cupped ear, Denta... |
OMIM:602483 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing im... |
OMIM:277170 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Severe short stature, Posteriorly rotat... |
ORPHA:2780 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, Brachycephaly, High palate, ... |
OMIM:234100 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Brachycephaly, Coxa vara, Glossoptosis, Clinodactyly of the 5th finger, Spin... |
ORPHA:1452 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Short stature, Uplifted earlobe, Abnormality of the dentition, Microcephaly, Tapered... |
ORPHA:261652 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor |
ORPHA:163596 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Elongated... |
OMIM:615636 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Cerebellar atrophy, Tongue atrophy, Growth delay, Tongue fasciculations, Progressive microcephaly... |
OMIM:614678 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Severe short stature, Microcephaly, Skin ulcer, Protruding ear, Thick vermilion bor... |
ORPHA:2526 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Holoprosencephaly, Parietal bossing, Median cleft palate,... |
OMIM:610828 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Conductive hearing imp... |
OMIM:252100 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Severe short stature, Abnormal dental enamel morphology, Hearing impairment, Microc... |
ORPHA:2556 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal bones, Encephal... |
ORPHA:90652 |
| Cerebrocostomandibular Syndrome |
|
Short stature, Spina bifida, Microcephaly, Conductive hearing impairment, Myelomeningocele, Menin... |
ORPHA:1393 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, L... |
ORPHA:137634 |
| Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Non-midline cleft lip, Myelomeningoce... |
ORPHA:1752 |
| Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Turricephaly, Aplasia/Hypoplasia of the tongue, Abnormal morph... |
ORPHA:2167 |
| Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Pallor |
ORPHA:94080 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Anophthalmia, Short stature, Bilateral microphthalmos, Low-set ears, Intrau... |
OMIM:601186 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyl... |
OMIM:258860 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, Microcephaly, Tapered finger, High, narrow palate, Short ... |
ORPHA:3201 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Meningocele, Protruding ear, Glossoptosis, Bipa... |
ORPHA:2031 |
| Orofaciodigital Syndrome V |
|
Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, H... |
OMIM:174300 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Sensorineural hearing impairment, Cleft palate, Glossoptosis, Abnormal metacarpal morphology, Lon... |
ORPHA:166100 |
| Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Dental crowding, Abnormal pinna morphology, Hamartoma of tongu... |
ORPHA:137888 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami |
OMIM:141300 |
| Frontorhiny |
|
Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft palate, Finger c... |
ORPHA:391474 |
| Cousin Syndrome |
|
Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelia, Humeroradial synostosis, 2-3 ... |
OMIM:260660 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Cleft upper lip, Parietal foramina, Microcephaly, Short thumb, Absent thumb, Parti... |
OMIM:105650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, ... |
OMIM:253280 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Osteogenesis Imperfecta, Type Xx |
|
Crumpled ear, Tented upper lip vermilion, Posteriorly rotated ears, Microcephaly, Brachycephaly, ... |
OMIM:618644 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, B... |
ORPHA:2928 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, High palate, Pallor, Hearing impairment |
OMIM:617675 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly... |
OMIM:311900 |
| Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Preaxial polydactyly, Finger clinodactyly, Lobulated tongue, High p... |
ORPHA:2754 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypoplasia of the fovea, Short stature, Conical tooth, Microcephaly, E... |
OMIM:308300 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Finger syndactyly, Short sta... |
ORPHA:193 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure of eruption of p... |
ORPHA:2250 |
| Dominant Beta-Thalassemia |
|
Frontal bossing, Bowing of the long bones, Abnormality of the dentition, Skin ulcer, Genu valgum,... |
ORPHA:231226 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Broad hallux phalanx, Toe syndactyly, Short stature, Microcephaly, Sensorineural... |
ORPHA:250989 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Microcephaly, Pierre-Robin sequence, Cleft palat... |
ORPHA:1358 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis |
OMIM:614876 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
| Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Microcephaly |
OMIM:246450 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Cleft upper lip, Conductive hearing impairment, Sensorineu... |
OMIM:164210 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Sensorineural hearing impairment, Pallor |
ORPHA:3226 |
| Apert Syndrome |
|
Brachycephaly, Chiari type I malformation, Cutaneous finger syndactyly, Broad distal phalanx of t... |
OMIM:101200 |
| Charge Syndrome |
|
Anophthalmia, Hand monodactyly, Holoprosencephaly, Hypoplasia of the ulna, Cleft upper lip, Aplas... |
OMIM:214800 |
| Hereditary Folate Malabsorption |
|
Pallor, Glossitis, Cheilitis |
ORPHA:90045 |
| Baller-Gerold Syndrome |
|
Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Conductive hearing impai... |
OMIM:218600 |
| Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Hearing impair... |
ORPHA:364577 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Proboscis, Agenesis of canine, Orofacial cleft, High palate... |
ORPHA:141099 |
| Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone morphology, ... |
ORPHA:63259 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... |
OMIM:604757 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Beta-Thalassemia Major |
|
Frontal bossing, Bowing of the long bones, Abnormality of the dentition, Skin ulcer, Genu valgum,... |
ORPHA:231214 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short metacarpal, Posteriorly rotated ears, Sandal gap, Sensorineural hearing impairment, Disprop... |
ORPHA:1427 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Microcephaly, Cleft palate, Glossopt... |
OMIM:618356 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... |
ORPHA:1507 |
| Distal Deletion 3P |
|
Low-set, posteriorly rotated ears, Short stature, Hearing impairment, Microcephaly, Postaxial han... |
ORPHA:1620 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, High pa... |
OMIM:608670 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Fanconi Anemia, Complementation Group C |
|
Short stature, Anemic pallor, Hearing impairment, Microcephaly, Absent thumb, Short thumb, Absent... |
OMIM:227645 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Anemic pallor, Microcephaly, Absent thumb, Esophageal atresia, Hydrocephalus, Shor... |
OMIM:227646 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Cleft palate, Pallor, Cerebellar malformation, Microphthalmia, Congenital aphakia |
ORPHA:137675 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor, Short stature, Gingival bleeding |
ORPHA:98870 |
| Deafness-Craniofacial Syndrome |
|
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impa... |
ORPHA:3241 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Abnormal occipital bone morphol... |
ORPHA:3472 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Sensorineural hearing impairment |
OMIM:158900 |
| Craniosynostosis And Dental Anomalies |
|
Flat occiput, Dental crowding, Clinodactyly, Brachycephaly, High palate, Conductive hearing impai... |
OMIM:614188 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Dandy-Walker malformation, Syndactyly, Cleft upper lip... |
OMIM:249000 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... |
OMIM:268310 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Posteriorly rotated ears, Arachnod... |
ORPHA:2759 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Anemic pallor, Microcephaly, Absent thumb, Short thumb, Absent radius, Microphthal... |
OMIM:600901 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Pallor |
ORPHA:3386 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Narrow mouth, Brachycephaly, Cleft palate, Lo... |
ORPHA:1790 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Microcephaly, Cleft palate, Furrowed tongue, Plagiocephaly, Downturned corners ... |
ORPHA:453499 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor, Glossitis, Angular cheilitis |
ORPHA:35858 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cupped ear, Cleft palate, Protruding ear, Glo... |
OMIM:616367 |
| Au-Kline Syndrome |
|
Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ... |
OMIM:616580 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Hamartoma of tongue, Short t... |
OMIM:269860 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Prolonged brainstem auditory evoked potentials, Tongue atrophy, Hammertoe, Tongue fasciculations,... |
OMIM:601596 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Fumarase Deficiency |
|
Frontal bossing, Necrotizing enterocolitis, Microcephaly, High palate, Pallor |
OMIM:606812 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Premature loss of primary teeth, Craniosynos... |
ORPHA:667 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Anemic pallor, Microcephaly, Absent thumb, Short thumb, Absent radius, Microphthal... |
OMIM:227650 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto... |
OMIM:602535 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Anteriorly placed anus, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Short s... |
OMIM:616894 |
| Hallermann-Streiff Syndrome |
|
Frontal bossing, Natal tooth, Proportionate short stature, Abnormality of the dentition, Microcep... |
ORPHA:2108 |
| Orofaciodigital Syndrome Type 2 |
|
Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Short tibia, Fin... |
ORPHA:2751 |
| Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Dandy-Walker malformation, Finger ... |
ORPHA:2750 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Dental crowding, Short lingual frenulum, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Waldenström Macroglobulinemia |
|
Hearing impairment, Malabsorption, Pallor, Gingival bleeding, Purpura |
ORPHA:33226 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short thumb, Abnormal ... |
ORPHA:436003 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Uplifted earlobe, Microcephaly, 2-3 toe syndactyly, Cleft palate, Fur... |
OMIM:616449 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Biparietal narrowing, Holoprosencephaly, Advanced eruption of teeth,... |
ORPHA:818 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anteriorly placed anus, Cutaneous finger syndactyly, Spi... |
OMIM:151050 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Hearing impairment, Cleft lip, Pyloric stenosis, Trach... |
ORPHA:1199 |
| Neurofaciodigitorenal Syndrome |
|
Abnormality of the philtrum, Abnormal oral mucosa morphology, Short stature, Abnormal distal phal... |
ORPHA:2673 |
| Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Brachydactyly, Short stature, Microcephaly, Diastema, Furrowed tongue, ... |
OMIM:300534 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... |
ORPHA:2752 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of... |
ORPHA:531151 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Syndactyly, Cerebellar vermis hypoplasia, Short stature, Posteriorly rotated ear... |
OMIM:616975 |
| Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Syndactyly, Short stature, Persistence of primary teeth, Mesome... |
ORPHA:97360 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Preaxial polydactyly, Aplasia of the epigl... |
OMIM:615948 |
| Gracile Bone Dysplasia |
|
Short stature, Hydrocephalus, Flared metaphysis, Aniridia, Microphthalmia, Ankyloglossia, Brachyd... |
OMIM:602361 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
| Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, ... |
ORPHA:2886 |
| Letterer-Siwe Disease |
|
Stomatitis, Pallor |
OMIM:246400 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Pallor |
ORPHA:276621 |
| Diamond-Blackfan Anemia |
|
Short stature, Cleft soft palate, Microcephaly, Absent thumb, Cleft lip, Short thumb, Partial dup... |
ORPHA:124 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou... |
ORPHA:3107 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate... |
OMIM:309800 |
| Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Downturned corners of mouth, W... |
ORPHA:79500 |
| Branchioskeletogenital Syndrome |
|
Attached earlobe, Upper limb peromelia, Brachycephaly, Anteriorly placed anus, Downturned corners... |
ORPHA:1299 |
| Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Question mark ear, Bifid uvula, Bilateral conductive hearing impairment |
OMIM:615706 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Short stature, Calcaneovalgus deformity, Cleft palate, Furrowed tongue, Talipes e... |
OMIM:615065 |
| Sepsis In Premature Infants |
|
Pallor, Enterocolitis, Petechiae, Purpura |
ORPHA:90051 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Turricephaly, Short stature, Camptodactyly of finger, Premature loss of primar... |
ORPHA:2907 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Conductive hearing impairment, Pulsatile tinnitus, Pallor |
ORPHA:29072 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Abnormally large globe, Postnatal growth retardation, Abnormal tongue morphology... |
ORPHA:2457 |
| Acrodermatitis Enteropathica |
|
Short stature, Malabsorption, Erythema, Cheilitis, Abnormality of the tongue, Furrowed tongue, Sk... |
ORPHA:37 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Brachydactyly, Short stature, Intestinal malrotation, Hamartoma of tongue... |
OMIM:613091 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Growth delay |
OMIM:614886 |
| Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia ... |
ORPHA:958 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Low-... |
OMIM:258850 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Overlapping fingers, Over... |
ORPHA:464738 |
| Ayme-Gripp Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Short stature, Posteriorly rotated ears, Hearing impairm... |
OMIM:601088 |
| Hereditary Spherocytosis |
|
Growth delay, Pallor, Skin ulcer |
ORPHA:822 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Chiari malformation, Occipi... |
ORPHA:268810 |
| Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short phalanx of finger, Pursed lips, ... |
OMIM:601559 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... |
ORPHA:329971 |
| Ring Chromosome 7 Syndrome |
|
Brachycephaly, Short philtrum, Holoprosencephaly, Clinodactyly of the 5th finger, Small earlobe, ... |
ORPHA:1449 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Chiari type I malformation, Sh... |
ORPHA:798 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Anal atresia |
ORPHA:63260 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Microcephaly, Tapered finger, Sensorineural hearing impairment, Pierre-Robin sequence, Cleft pala... |
OMIM:254940 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th fin... |
ORPHA:2001 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Flared metaphysis, Glossoptosis, Delayed ossification of carpal bones, Aplasia/hyp... |
ORPHA:93346 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Microcephaly |
ORPHA:20 |
| X-Linked Agammaglobulinemia |
|
Short stature, Malabsorption, Sensorineural hearing impairment, Skin ulcer, Glossoptosis |
ORPHA:47 |
| Adenohypophysitis |
|
Sensorineural hearing impairment, Pallor |
ORPHA:95512 |
| Rabson-Mendenhall Syndrome |
|
Dental crowding, Short stature, Abnormality of the dentition, Macrotia, Gingival overgrowth, Furr... |
ORPHA:769 |
| Catel-Manzke Syndrome |
|
Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metacarpal, Cleft u... |
OMIM:616145 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Downturned corners of mouth, Severe sensorineural hearing impairment, Conductive ... |
OMIM:620186 |
| Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
| Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Talipes equ... |
OMIM:609128 |
| Panhypophysitis |
|
Sensorineural hearing impairment, Pallor |
ORPHA:95513 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... |
OMIM:192445 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tong... |
ORPHA:570 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Loss of Purkinje cells in the cerebellar vermis, Hearing i... |
ORPHA:276198 |
| Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Tongue atrophy, Tongue fasciculations, Hearing impairment |
OMIM:614153 |
| Sheehan Syndrome |
|
Sensorineural hearing impairment, Dry skin, Pallor |
ORPHA:91355 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Flat occiput, Short stature, Abnormality of the dentition, Microcephaly... |
ORPHA:1596 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Cranium bifidum occultum, Mic... |
OMIM:229400 |
| Alternating Hemiplegia Of Childhood |
|
Downturned corners of mouth, Exaggerated cupid's bow, Pallor |
ORPHA:2131 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Peptic ulcer |
ORPHA:98849 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Tapered finger,... |
OMIM:619480 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Midface retrusion, Furrowed tongue |
ORPHA:140936 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodactyly of the 5... |
OMIM:101400 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Ramos-Arroyo Syndrome |
|
Frontal bossing, Severe short stature, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth t... |
ORPHA:1051 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Short stature, Tracheoesophageal fistula, Microtia, High palate, Talipe... |
OMIM:277380 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Erythema, Pallor, Steatorrhea |
OMIM:557000 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Abnormal cerebellum morphology, Sensorineural hearing impairment, Tongue fascicul... |
OMIM:211530 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Pallor, Ganglioneuroma... |
ORPHA:653 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
| Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Dilated fourth ventricle, Broad hallux, Deviation of the hallu... |
ORPHA:434179 |
| Idiopathic Hypereosinophilic Syndrome |
|
Swelling of proximal interphalangeal joints, Malabsorption, Clubbing, Colitis, Pallor |
ORPHA:3260 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Sensorineural hearing impairment, Penetrating foot ulcers, Buphthalmos, Difficult... |
ORPHA:99956 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Hydro... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Hydro... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Hydro... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Short stature, Proboscis, Microcephaly, Sensorineural hearing impairment, Hydro... |
ORPHA:93924 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Short femur, Disproportionate short-trunk short stature, Upper limb undergrowth, Cleft palate, Ge... |
ORPHA:94068 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Short stature, Abnormal toe morphology, Abnormal finger morphology, ... |
OMIM:163200 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Odontoonychodermal Dysplasia |
|
Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spac... |
OMIM:257980 |
| Psoriasis 14, Pustular |
|
Erythema, Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Microcephaly, Carious ... |
OMIM:117650 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Downturned corners of mouth, Chiari type I malformation, Short philtrum, P... |
ORPHA:3455 |
| Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Glossitis |
ORPHA:79284 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing... |
OMIM:175500 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess, B... |
OMIM:600145 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Furrowed tongue, Hamartomatous p... |
OMIM:158350 |
| Hartnup Disease |
|
Short stature, Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Mixed hearing impairment, Brachydact... |
ORPHA:444077 |
| Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Cleft palate, Glossoptosis, Low-set ears, Ankyloglossia |
OMIM:618021 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Hearing... |
OMIM:615108 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Intestinal perforation, Pallor, Intussusception, Acute colitis |
ORPHA:544482 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Microcephaly, Hydrocephalus, Growth delay, Low-set ears, Stomatitis, Intrauterine growth retardat... |
ORPHA:79282 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor, Delayed puberty |
ORPHA:91347 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth, Hearing... |
OMIM:615109 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Sensorineural hearin... |
ORPHA:101085 |
| Agel Amyloidosis |
|
Tongue atrophy, Xerostomia, Cutis laxa, Dry skin, Hearing impairment |
ORPHA:85448 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| Von Hippel-Lindau Disease |
|
Pallor, Cerebellar hemangioblastoma |
ORPHA:892 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Talipes equinovarus |
OMIM:617114 |
| Stickler Syndrome |
|
Short stature, Abnormal dental enamel morphology, Arachnodactyly, Cleft upper lip, Open bite, Sen... |
ORPHA:828 |
| Giant Cell Arteritis |
|
Conductive hearing impairment, Glossitis, Skin ulcer, Hearing impairment |
ORPHA:397 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the dentition, Carious tee... |
ORPHA:158668 |
| Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Dry skin, Abnormal oral frenul... |
ORPHA:1401 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Tongue atrophy, Sensorineural hearing impairment, Hammertoe, Tongue fascicula... |
ORPHA:99949 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Oral mucosal blisters, Erythema, Growth delay, Smooth tongue, Enamel hypoplasia |
ORPHA:79396 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Brachycephaly, High palate, Broad uvula, Bifid uvula, Lon... |
OMIM:619472 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Microdontia, Sensorineural hearing impairment, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Tongue atrophy, Microcephaly, Congenital finger flexion contractures, Flexion... |
ORPHA:466768 |
| Cowden Syndrome |
|
Brachydactyly, Short stature, Abnormal cerebellum morphology, Furrowed tongue, Hamartomatous poly... |
ORPHA:201 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Abnormality of the ... |
ORPHA:3206 |
| Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Hearing impairment, Furrowed tongue |
OMIM:158310 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Glucagonoma |
|
Intestinal obstruction, Necrolytic migratory erythema, Steatorrhea, Stomatitis, Glossitis |
ORPHA:97280 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Kawasaki Disease |
|
Palmoplantar erythema, Glossitis, Cheilitis |
ORPHA:2331 |
| Plague |
|
Chapped lip, Enterocolitis, Skin ulcer, Inflammation of the large intestine, Dry skin, Glossitis,... |
ORPHA:707 |
| Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
| Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Irritability |
OMIM:615182 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Polyhydramnios |
ORPHA:98914 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
|
OMIM:618197 |
