| Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa... |
OMIM:610828 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Abnormal midface morphology, Median cleft lip, Cleft upper lip, Diastema, Ab... |
ORPHA:401942 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Open bite, Macrocephaly, High palate, Dolichocephaly, Trigonocephaly, Midf... |
ORPHA:168624 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
| Holoprosencephaly 5 |
|
Anteverted nares, Depressed nasal bridge, Syntelencephaly, Alobar holoprosencephaly, Microcephaly... |
OMIM:609637 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Macrocephaly, Everted ... |
OMIM:614753 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Diabetes insipidus, Proboscis, Adrenal hypo... |
OMIM:157170 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Holoprosencephaly, Orofacial cleft, Chorioretinal coloboma |
OMIM:611638 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... |
ORPHA:1248 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Narrow ... |
ORPHA:2412 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
| Chromosome 16P11.2 Deletion Syndrome, 593-Kb |
|
Macrocephaly, Midface retrusion, Micrognathia |
OMIM:611913 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subependymal cysts, Progressiv... |
OMIM:618737 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Microcephaly, Wide anterior fontanel, Hydrocephalus... |
OMIM:614886 |
| Distal Monosomy 7Q36 |
|
Micrognathia, Microcephaly, Cryptorchidism, Non-midline cleft lip, Bulbous nose, Cleft palate, Fu... |
ORPHA:1636 |
| Holoprosencephaly 11 |
|
Microcephaly, Cleft lip, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum |
OMIM:614226 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion, Abnormality of the dentition |
ORPHA:2776 |
| Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Microcephaly, Ventriculomegaly, Hyperplasia of the maxilla |
OMIM:618383 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem... |
OMIM:142946 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Anteverted nares, Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid syno... |
OMIM:618577 |
| Whistling Face Syndrome, Recessive Form |
|
Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Whistling appearance, Trismus, H... |
OMIM:277720 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Coloboma, Agenesis of corpus callosum |
OMIM:274270 |
| Rubinstein-Taybi Syndrome 2 |
|
Intestinal malrotation, Micrognathia, Carious teeth, Prominent nose, Microcephaly, Talon cusp, De... |
OMIM:613684 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater... |
ORPHA:2003 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... |
OMIM:617542 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Microcephaly, Depressed nasal ridge, Gingival fibromatosis, Gingi... |
ORPHA:1832 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Abnormal midface morphology, Mandibular osteomyelitis, Supernumerary tooth, Dental ... |
ORPHA:83451 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
| 20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Full cheeks, ... |
ORPHA:261295 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Bifid nasal tip, Wide nasal bridge, High palate, Trigonocephaly, Retrognathia |
OMIM:300983 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
| Seckel Syndrome 4 |
|
Microcephaly, Retrognathia, Underdeveloped nasal alae |
OMIM:613676 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Frontal bossing, Broad nasal tip, Scaphocephaly, Macrocephaly, High palate... |
OMIM:615637 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
| Stickler Syndrome, Type Ii |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Pierre-Robin sequenc... |
OMIM:604841 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Hypogonadotropic hypogonadism, Micrognathia, Microcephaly, Cryptorchidism... |
ORPHA:1387 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Coloboma, Retinal dysplasia, Type II lis... |
ORPHA:324416 |
| Clark-Baraitser syndrome |
|
Frontal bossing, Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower... |
OMIM:300602 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Absent septum pellucidum, Cleft upper lip, Anterior ... |
OMIM:601357 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Brachycephaly, Hypogonadism, High palate, Narrow mouth, Retrognathia |
ORPHA:2528 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Anteverted nares, Depressed nasal bridge, Pierre-Robin sequence, Cleft palate, Malar flattening, ... |
OMIM:184840 |
| Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Retrognathia, Wide nasal bridge |
OMIM:619844 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Cleft lip, Single naris... |
OMIM:142945 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Agenesis of corpus callosum, Death in infancy |
ORPHA:85334 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
| Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic fronta... |
OMIM:136760 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Microcephaly |
OMIM:618302 |
| Atkin-Flaitz Syndrome |
|
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... |
ORPHA:1193 |
| Filippi Syndrome |
|
Underdeveloped nasal alae, Microcephaly, Cryptorchidism, Low hanging columella, Wide nasal bridge... |
OMIM:272440 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Microcephaly, Narrow mouth, Optic atrophy, Thin vermilion border, Death in chil... |
OMIM:618766 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons,... |
OMIM:613153 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a... |
OMIM:619941 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Median cleft lip, Microcephaly, Cleft palate, Holoprosencephaly, Cyclopia, Abnormality of the die... |
ORPHA:2165 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... |
ORPHA:1528 |
| Intellectual Disability, Birk-Barel Type |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Broad nasal tip, High, narrow pala... |
ORPHA:166108 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Cyclopia, Holoprosencephaly, Narrow mouth, Mandibular aplasia, Microglossia, Agenesis of corpus c... |
ORPHA:990 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Macrocephaly, Malar flattening, Open mouth, Retrognathia, Short nose |
OMIM:613670 |
| Monosomy 18P |
|
Micrognathia, Carious teeth, Microcephaly, Brachycephaly, Cleft palate, Wide nasal bridge, Downtu... |
ORPHA:1598 |
| Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Cleft upper lip, Microcephaly, Prominent m... |
OMIM:147250 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Cerebral cortical atrophy, Holoprosencephaly, Microcephaly |
ORPHA:2523 |
| Lowry-Maclean Syndrome |
|
Short nasal bridge, Choanal atresia, Craniosynostosis, Delayed eruption of primary teeth, Microgn... |
ORPHA:2409 |
| Distal Deletion 13Q |
|
Encephalocele, Microcephaly, Anencephaly, Optic atrophy, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:1590 |
| Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
| Skraban-Deardorff Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Full ch... |
OMIM:617616 |
| Peho-Like Syndrome |
|
Short nose, Full cheeks, Progressive microcephaly, Open mouth, Retrognathia, Ventriculomegaly |
OMIM:617507 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Malar flattening, Midface retrusion, Cleft palate |
OMIM:300261 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypoplasia of the maxilla, Hy... |
ORPHA:207 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge, Prominent na... |
OMIM:620370 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Microcephaly, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormalit... |
ORPHA:314621 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis |
OMIM:311895 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Bulbous nose, Wide mouth, M... |
OMIM:617228 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate |
ORPHA:945 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... |
OMIM:619302 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... |
OMIM:600638 |
| Microcephaly 8, Primary, Autosomal Recessive |
|
Retrognathia, Primary microcephaly |
OMIM:614673 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia o... |
ORPHA:776 |
| 17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Microcephaly, Thin vermilion border, Bifid nose, Macroorchidis... |
ORPHA:139474 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Brachyc... |
ORPHA:93262 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... |
ORPHA:2791 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Cleft palate, Micrognathia |
OMIM:249710 |
| Perlman Syndrome |
|
Anteverted nares, Micrognathia, High, narrow palate, Cryptorchidism, Short nose, Hyperinsulinemia... |
ORPHA:2849 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly, Microcephaly |
OMIM:306990 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Micrognathia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydrane... |
ORPHA:2570 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum |
OMIM:613162 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simplified gyral p... |
ORPHA:300570 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, High palate, Macrocephaly |
OMIM:300676 |
| Cornelia De Lange Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Broad nasal tip, ... |
OMIM:300882 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, High... |
OMIM:304100 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Cryptorchidism, High palate, Mac... |
ORPHA:85279 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex... |
OMIM:156510 |
| Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Malar flattening, Midface retrusion |
OMIM:122430 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose |
ORPHA:2015 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hydrocephalus, M... |
OMIM:620157 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Decreased testicul... |
ORPHA:93950 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Encephalocele, Micrognathia, Microcephaly, Non-midline cleft lip, Meningoc... |
ORPHA:1908 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, D... |
OMIM:614744 |
| Zechi-Ceide Syndrome |
|
Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Oligodont... |
OMIM:612916 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Convex nasal ridge, Hypoplasia of the maxil... |
ORPHA:1540 |
| Pontocerebellar Hypoplasia Type 4 |
|
Primary microcephaly, Midface retrusion, Micrognathia |
ORPHA:166063 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Cleft upper lip, Cryptorc... |
OMIM:265050 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Partial agenesis of the corpus callosum, Cort... |
OMIM:615771 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Ventriculomegaly, Microcephaly, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border... |
OMIM:615502 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:172880 |
| Atelosteogenesis, Type Iii |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, P... |
OMIM:108721 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Ventriculomegaly, Dental crowding, Anteverted nares, Persistence of primary teeth, Micrognathia, ... |
OMIM:618342 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Spina bifida, Microcephaly, Open... |
ORPHA:1327 |
| Jawad Syndrome |
|
Primary microcephaly, Retrognathia, Prominent nose |
OMIM:251255 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Ck Syndrome |
|
Dental crowding, Prominent nasal bridge, Micrognathia, Microcephaly, High palate, Malar flattenin... |
OMIM:300831 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Midface retrusion |
OMIM:165800 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Neurogenic bladder, Optic nerve hypoplasia, Pachygyria, T... |
ORPHA:572013 |
| Bamforth-Lazarus Syndrome |
|
Choanal atresia, Thyroid agenesis, Cleft palate, Congenital hypothyroidism, Retrognathia |
ORPHA:1226 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Mandibular apla... |
OMIM:202650 |
| Cardioacrofacial Dysplasia 1 |
|
Overhanging nasal tip, Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxill... |
OMIM:619142 |
| Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Cryptorchidism, Wide nasal bridge, High palate, Retrognathia |
OMIM:618393 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Congestive heart f... |
OMIM:604765 |
| Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Cryptorchidism, Wide nasal bridge,... |
OMIM:619595 |
| Lowry-Maclean Syndrome |
|
Preauricular pit, Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Convex... |
OMIM:600252 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe... |
ORPHA:782 |
| Lambotte Syndrome |
|
Microcephaly, Narrow mouth, Retrognathia, Convex nasal ridge, Semilobar holoprosencephaly |
OMIM:245552 |
| Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Microcephaly, Cryptorchidism, Short nose, Brachycephaly, Full cheeks,... |
OMIM:602342 |
| Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto... |
ORPHA:563612 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition,... |
OMIM:179613 |
| Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Agenesis of corpus... |
OMIM:619111 |
| Microform Holoprosencephaly |
|
Tented upper lip vermilion, Microcephaly, Panhypopituitarism, Cleft palate, Orofacial cleft, Shor... |
ORPHA:280200 |
| Triploidy |
|
Intestinal malrotation, Micrognathia, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft pa... |
ORPHA:3376 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Deep philtrum, High palate, Short philtrum, Widely spaced teeth, Holo... |
OMIM:612530 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Dentinogenesis imperfecta, High ... |
OMIM:613849 |
| Lissencephaly, X-Linked, 1 |
|
Death in infancy, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
| German Syndrome |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Brachycephaly, Orofacial cleft, Wide nasal ... |
ORPHA:2077 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Long philtru... |
OMIM:613792 |
| Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Postauricular skin tag, Cleft lip, Wide nasal bridge, Cleft pal... |
ORPHA:217017 |
| Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Anteverted nares, Decreased response to growth hormone stimulation test, Craniosyno... |
OMIM:601853 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Microcephaly, Decreased thalamic volume, High palate, Long philtrum, Retrognathia |
OMIM:619072 |
| Trisomy 18P |
|
Micrognathia, Underdeveloped nasal alae, High, narrow palate, Pyloric stenosis, Bilateral cryptor... |
ORPHA:1715 |
| Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
|
Microcephaly, Midface retrusion, Trigonocephaly, Convex nasal ridge, Abnormal palate morphology |
ORPHA:2261 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Microcephaly, Hypoplastic nasa... |
ORPHA:40366 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, Frontal bossing, Relative macrocephaly, Bulbous nose, Midface retrusion |
ORPHA:2324 |
| Hartsfield Syndrome |
|
Encephalocele, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Lo... |
ORPHA:2117 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of... |
OMIM:618729 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
| Pontocerebellar Hypoplasia, Type 1F |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Thick vermilion border, Long philtrum, Re... |
OMIM:619304 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Full cheeks, Everted lower lip vermilion, Narrow mouth, Oral synechia |
ORPHA:2016 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H... |
OMIM:611603 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Cleft lip, Cryptorchidism, Cleft palate, Thin vermilion border, High palate, Narrow ... |
OMIM:619110 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal bridge, Cleft p... |
OMIM:615524 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventriculomegaly, Anteverted nares, Intestinal malrotation, Microcephal... |
OMIM:614701 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Cleft palate, Microcephaly |
OMIM:616570 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the... |
OMIM:616171 |
| Snijders Blok-Campeau Syndrome |
|
Frontal bossing, Prominent nose, Wide nasal bridge, Taurodontia, Widely spaced teeth, High palate... |
OMIM:618205 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Anteverted nares, Hydrocephalus, Brachycephaly, Thin vermilion border, Midface retr... |
ORPHA:1532 |
| Cohen Syndrome |
|
Prominent nasal bridge, Decreased response to growth hormone stimulation test, Micrognathia, Hypo... |
OMIM:216550 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Cloverleaf skull, Dental crowding, Depressed nasal bridge, Choanal atresia... |
OMIM:101600 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, High palate, Short nose, Midfa... |
ORPHA:1913 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Anteverted nares, Depressed nasal bridge, High, narrow palate, Bulbous nose, Thick lower lip verm... |
OMIM:617268 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia |
OMIM:619981 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth |
OMIM:246560 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Downturned corner... |
OMIM:619720 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Prominent nasal bridge, Microcephaly, Wide nasal bridge, Everted lower lip vermilion, Short philt... |
OMIM:619556 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Microcephaly, Cryptorchidism, Wide n... |
OMIM:243310 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Microcephaly, Optic atrophy, Cleft palate, Periventricular white matter hyperintensities, Retinal... |
OMIM:618768 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi... |
OMIM:257850 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof... |
OMIM:616331 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Decreased response to growth... |
OMIM:615866 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Thick vermilion border... |
OMIM:617090 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Alobar holoprosenc... |
OMIM:301043 |
| Apert Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Mandibular prognathia, Cloverleaf skull, Depressed na... |
ORPHA:87 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum |
ORPHA:93945 |
| Intellectual Developmental Disorder, Autosomal Recessive 27 |
|
Depressed nasal bridge, Midface retrusion, Microcephaly |
OMIM:614340 |
| Keipert Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Prominent nasal brid... |
ORPHA:2662 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism, Abnormal number of incisors, Retrognathia, Prominent nose |
ORPHA:2958 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Convex nasal ridge, Abnormality of the de... |
ORPHA:1798 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Adrenal hypopl... |
ORPHA:2166 |
| 49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Abnormal den... |
ORPHA:96264 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Birk-Aharoni Syndrome |
|
Micrognathia, Dolichocephaly, Cryptorchidism, Microcephaly, Long nasal bridge, Midface retrusion |
OMIM:620071 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Abnormality of ... |
OMIM:182290 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Long philtrum |
OMIM:618286 |
| Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central i... |
OMIM:619719 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy, Agenesis of corpus callosum, Periventricular leukomalacia |
OMIM:618324 |
| 6Q16 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Full cheeks, Macrocephaly, ... |
ORPHA:171829 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Ventriculomegaly, Thick nasal alae, Micrognathia, Hydrocephalus, Retrognathia, S... |
ORPHA:163961 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Broad na... |
ORPHA:438216 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... |
OMIM:602535 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin... |
OMIM:241310 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Secondary microce... |
ORPHA:79113 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Cryptorchidism, Hydrocephalus, Alveolar ridge overgrowth, Cl... |
OMIM:612938 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Thick nasal alae, Cleft soft palate, Prominent nose, Bulbous nose, Choroid plexus cyst, Full chee... |
ORPHA:293725 |
| Delayed Membranous Cranial Ossification |
|
Prominent occiput, Frontal bossing, Depressed nasal ridge, Midface retrusion |
ORPHA:3034 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, High palate, Short philtrum, Alobar holoprosencephaly |
OMIM:615433 |
| Raynaud-Claes Syndrome |
|
Mandibular prognathia, Midface retrusion, Microcephaly |
OMIM:300114 |
| 8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Cryptorchidism, Microc... |
ORPHA:178303 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum |
ORPHA:90653 |
| Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Flared nostrils, Brachy... |
OMIM:619504 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Tongue fasciculations, Motor axonal neuropathy, Microcephaly |
OMIM:618276 |
| 1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Hypergonadotropic hypogonadism, Broad nasal tip, Underde... |
ORPHA:250999 |
| Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer |
OMIM:619101 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Cleft lip, Bifid nasal tip, Mi... |
ORPHA:398156 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Midface retrusion, Cleft palate, Microcephaly |
ORPHA:2216 |
| Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Open ... |
ORPHA:950 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... |
OMIM:618492 |
| Pseudodiastrophic Dysplasia |
|
Frontal bossing, Anteverted nares, Micrognathia, Brachycephaly, Malar flattening, Midface retrusi... |
OMIM:264180 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Preau... |
ORPHA:1555 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Exaggerated cupid's bow, Depressed nasal bridge, Supernumerary nipple, Microceph... |
OMIM:620098 |
| Seckel Syndrome 5 |
|
Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Cle... |
OMIM:613823 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Frontal bossing, Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Pachygyria, Orofacial cleft, Wide mouth, Coloboma, Lissencephaly, Secon... |
OMIM:614583 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Ret... |
ORPHA:2521 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... |
ORPHA:324575 |
| Orofaciodigital Syndrome Xix |
|
Frontal bossing, Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nas... |
OMIM:620107 |
| Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Thick vermilion border, Retrognathia |
OMIM:615979 |
| Developmental And Epileptic Encephalopathy 87 |
|
Prominent nose, Bulbous nose, Wide mouth, Widely spaced teeth, High palate, U-Shaped upper lip ve... |
OMIM:618916 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Cleft pala... |
ORPHA:1135 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypoplasia, Agyria, Microcephaly... |
ORPHA:171680 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
| Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... |
OMIM:252100 |
| Prieto Syndrome |
|
Cryptorchidism, Retrognathia, Prominent nose, Abnormality of the dentition |
OMIM:309610 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia, Microcephaly, Hydrocephalus,... |
ORPHA:370959 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Short philtrum, H... |
ORPHA:819 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Decreased thyroid-stimulating hormone level, Hypopituitarism, Anteverted nares, ... |
OMIM:613038 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Anteverted nares, Microcephaly, Carious teeth, Wide anterior fontanel, High pala... |
OMIM:219200 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Malar flattening, Secondary microcephaly, Midface retrusion, Amelogenesis imperfecta |
OMIM:614727 |
| Glass Syndrome |
|
Dental crowding, Conical tooth, Micrognathia, Long nose, Oligodontia, High palate, Anteverted nar... |
OMIM:612313 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly, Wide ... |
ORPHA:369891 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... |
OMIM:619301 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
| Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Diabetes insipidus, Craniosynostosis, Cleft upper lip, Alobar holopr... |
OMIM:615465 |
| Coffin-Siris Syndrome 6 |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow palate, Deep... |
OMIM:617808 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Hydrocephalus, W... |
OMIM:601499 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal external nose morpholo... |
ORPHA:556955 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Frontal bossing, Anteverted nares, Cleft soft palate, Abnormality of the d... |
OMIM:618529 |
| Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachycephaly, Cleft palate... |
ORPHA:1790 |
| Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Frontal bossing, Thin upper lip vermilion, Dental crowding, Prominent nasal ... |
OMIM:309520 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Everted lower lip vermilion, Inf... |
OMIM:618959 |
| Muenke Syndrome |
|
Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Macrocephaly, Malar flattening, C... |
OMIM:602849 |
| Developmental And Epileptic Encephalopathy 63 |
|
Thin upper lip vermilion, Bulbous nose, Cleft palate, Long philtrum, Midface retrusion |
OMIM:617976 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Periauricular ... |
ORPHA:352490 |
| Treacher Collins Syndrome 4 |
|
Microcephaly, Micrognathia, Cleft palate, Choanal stenosis, Malar flattening |
OMIM:618939 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Microcephaly, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Progre... |
OMIM:615249 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Anteverted nares, Prominent... |
OMIM:607812 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of the nose, Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology |
ORPHA:1390 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
| Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... |
ORPHA:300573 |
| Acrofacial Dysostosis, Palagonia Type |
|
Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, Oligodontia, Unilateral cle... |
ORPHA:1787 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, Cleft upper lip, Pre... |
OMIM:304050 |
| Propionic Acidemia |
|
Cardiomyopathy, Arrhythmia, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Parc Syndrome |
|
Microretrognathia, Cleft palate |
OMIM:600331 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Macrocephaly, Malar flattening, Agenesis... |
OMIM:109120 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft upper lip, Abnormality of the dentition, Hypop... |
ORPHA:915 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, La... |
OMIM:600775 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia, Macrocephaly |
ORPHA:397973 |
| Bosch-Boonstra-Schaaf Optic Atrophy Syndrome |
|
Anteverted nares, Prominent nasal bridge, Wide mouth, High palate, Retrognathia |
OMIM:615722 |
| Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Everted lower lip vermili... |
OMIM:617101 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, High palate, Primary microcephaly |
OMIM:618010 |
| Cebalid Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Platystencephaly, Brachycephaly, Depresse... |
OMIM:618774 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Open mouth, Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly |
OMIM:616681 |
| Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary... |
ORPHA:54595 |
| Atelosteogenesis, Type Ii |
|
Depressed nasal bridge, Micrognathia, Lacunar halos around chondrocytes, Cleft palate, Malar flat... |
OMIM:256050 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo... |
ORPHA:363417 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Wide nasal bridge, Brachycephaly, High palate, Short nose, Agenesis of... |
OMIM:218000 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
High palate, Agenesis of corpus callosum |
OMIM:619548 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, Cleft palat... |
ORPHA:1307 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Bulbous... |
OMIM:616788 |
| Catel-Manzke Syndrome |
|
Ventriculomegaly, Micrognathia, Cleft palate, Full cheeks, Glossoptosis, Malar flattening, Oral s... |
ORPHA:1388 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Biparieta... |
ORPHA:228396 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Microcephaly, Low hanging columella, Brachycephaly, Macro... |
OMIM:619721 |
| Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Retrognathia, Wide nasal bridge, Microcephaly |
OMIM:618402 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Micrognathia, Microcephaly, Hy... |
OMIM:241800 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Prominent occi... |
OMIM:619122 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Brachycephaly, Oligodontia, Aplasia/Hypo... |
ORPHA:2095 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High pal... |
OMIM:620156 |
| Marshall Syndrome |
|
Frontal bossing, Thick upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality... |
ORPHA:560 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
| Tetrasomy 5P |
|
Preauricular pit, Anteverted nares, Micrognathia, Wide anterior fontanel, Hydrocephalus, Wide nas... |
ORPHA:3309 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Flat occiput, Prominent nasal bridge, Microcephaly, High palate, Hypoplasia of the zygomatic bone... |
ORPHA:319171 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, Microc... |
OMIM:619833 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Hypoplasia of ... |
ORPHA:861 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Mild microcephaly, Increase... |
OMIM:618761 |
| Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
| Halperin-Birk Syndrome |
|
Micrognathia, Optic atrophy, Colpocephaly, Thick vermilion border, High palate, Death in childhoo... |
OMIM:618651 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares, Long philtrum |
ORPHA:324422 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Micrognathia, Partial agenesis of the corpus callosum, Wide nasal bridge, Narrow... |
OMIM:620250 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
| Monosomy 5P |
|
Microretrognathia, Microcephaly, Wide nasal bridge, High palate, Preauricular skin tag |
ORPHA:281 |
| Joubert Syndrome 26 |
|
Frontal bossing, Anteverted nares, Decreased response to growth hormone stimulation test, Cleft l... |
OMIM:616784 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Optic atrophy, Cerebral a... |
OMIM:600118 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Adrenal hypoplasia, Micrognathia, Cryptorchid... |
OMIM:612651 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
| Walker-Warburg Syndrome |
|
Chorioretinal dysplasia, Abnormal optic nerve morphology, Retinal dysplasia, Pachygyria, Agenesis... |
ORPHA:899 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Triangular mouth, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy |
ORPHA:166024 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Micrognathia, Microcephaly, Esophageal atresia, Deep philtrum,... |
OMIM:610536 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Bulbous nose, Brachycephaly, Nar... |
OMIM:618644 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Diabetes mellitus, Prominent nose, Micrognathia, Microcephaly, High palate, Preauricular skin tag... |
OMIM:620194 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... |
ORPHA:521308 |
| 6Q25 Microdeletion Syndrome |
|
Micrognathia, Microcephaly, Wide nasal bridge, Cleft palate, Plagiocephaly, High palate, Long phi... |
ORPHA:251056 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Cryptorchidis... |
OMIM:614613 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Agenesis of cerebellar v... |
OMIM:614424 |
| Sweeney-Cox Syndrome |
|
Flat occiput, Choanal atresia, Micrognathia, Broad nasal tip, Wide anterior fontanel, Velopharyng... |
OMIM:617746 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Micrognathia, High, narrow palate, Subm... |
ORPHA:2780 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Microcephaly, Cleft palate, W... |
ORPHA:261236 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Interhypothalamic adhesion, High palate, Short philtrum, Long philtrum,... |
OMIM:618929 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:620200 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Retrognathi... |
OMIM:616462 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Agenesis of corpus callosum,... |
OMIM:123790 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Notched primary central incisor, Macrocephaly, Microcephaly |
OMIM:620062 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Mandibular prognathia, Sinusitis, Depressed nasal bri... |
ORPHA:1452 |
| Pycnodysostosis |
|
Frontal bossing, Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Convex n... |
ORPHA:763 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hypoglycemia |
OMIM:609016 |
| Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Abnormal globus pallidus morphology, Abnormal caudate nucleus morph... |
ORPHA:397725 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Primary microcephaly, Lateral ventricle dilatation, Micrognathia |
OMIM:618266 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Brachycephaly, Abnormal shape o... |
OMIM:218350 |
| Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus |
ORPHA:141333 |
| Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Retinal dystrophy, Dandy-Walker malformation |
OMIM:614465 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Hydrocephalus, Dentinogenesis imperfecta, High ... |
OMIM:616294 |
| Mosaic Trisomy 14 |
|
Frontal bossing, Anteverted nares, Prominent nasal bridge, Micrognathia, Cryptorchidism, Wide nas... |
ORPHA:1703 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Broad... |
OMIM:101800 |
| Glycogen Storage Disease Iii |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Thin vermilion border, Malar f... |
OMIM:232400 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Carious teeth, Hyp... |
ORPHA:50814 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple,... |
ORPHA:1812 |
| Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... |
ORPHA:83450 |
| 3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Long philtrum |
ORPHA:1621 |
| Frontorhiny |
|
Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Midline nasa... |
ORPHA:391474 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Opti... |
OMIM:253800 |
| Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption... |
ORPHA:50 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Microcephaly, Wide n... |
OMIM:615583 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, High palate, Retrognathia, Age... |
OMIM:618142 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Depressed nasal bridge, Micrognathia, Microcephaly, Bu... |
OMIM:617061 |
| Temple Syndrome |
|
Decreased testicular size, Frontal bossing, Wide nose, Relative macrocephaly, Anteverted nares, D... |
OMIM:616222 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cryptorchidism, Wide nasal bridge, Downturned corners of mouth, Wide mo... |
OMIM:618067 |
| 22Q11.2 Duplication Syndrome |
|
Wide nose, Micrognathia, Microcephaly, Depressed nasal ridge, Cleft palate, Aplasia/Hypoplasia of... |
ORPHA:1727 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Macrodontia, Anteverted nares, Microcephaly, Plagiocephaly, Tooth agenesis, Downturned corners of... |
OMIM:618731 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Frontal bossing, Depressed nasal bridge, Short nose, Retrognathia, Den... |
ORPHA:166272 |
| Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Micrognathia, Malar flattening, Short nose, Midface retrusion |
OMIM:614524 |
| Basilicata-Akhtar Syndrome |
|
Ventriculomegaly, Tented upper lip vermilion, Anteverted nares, Wide nasal ridge, Precocious pube... |
OMIM:301032 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Micrognathia, Partial agenesis of the corpus callosum, Cleft palate, Short philtrum, Midface retr... |
OMIM:619074 |
| Hydrolethalus |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft pala... |
ORPHA:2189 |
| Auriculocondylar Syndrome 3 |
|
Micrognathia, Full cheeks, Glossoptosis, Retrognathia, Bifid uvula |
OMIM:615706 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:85179 |
| X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Microcephaly, Brachycephaly, Wide mouth, Hydrocele testis, Lateral ventric... |
ORPHA:85290 |
| Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Orofacial cleft, High palate, Primary microcephaly, Trigonocephaly, Retrognath... |
OMIM:618804 |
| Kleefstra Syndrome 2 |
|
Microcephaly, Plagiocephaly, Everted lower lip vermilion, Midface retrusion, Bifid uvula |
OMIM:617768 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
| Holoprosencephaly |
|
Flat occiput, Deep philtrum, Depressed nasal ridge, Panhypopituitarism, Absent nares, Holoprosenc... |
ORPHA:2162 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Prominent nose, High, narrow palate, Retrognathia, Ventriculomegaly |
OMIM:617926 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Pierre-Robin sequence, Anterior open... |
OMIM:617877 |
| Even-Plus Syndrome |
|
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Brachycephaly, High palate, H... |
OMIM:616854 |
| Tricho-Dento-Osseous Syndrome |
|
Frontal bossing, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesi... |
ORPHA:3352 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Malar fl... |
ORPHA:93946 |
| Raine Syndrome |
|
Mandibular prognathia, Micrognathia, Brachycephaly, High palate, Choanal stenosis, Microdontia, D... |
OMIM:259775 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma |
OMIM:610023 |
| Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Non-midline cleft lip, Cleft ... |
ORPHA:245 |
| Joubert Syndrome 15 |
|
Retinopathy, Coloboma, Retinal dystrophy, Exencephaly |
OMIM:614464 |
| 2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathi... |
ORPHA:251019 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Cryptorchidism, Brachycephaly, Narrow palate, Short upper lip, Macrodontia... |
ORPHA:364028 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Thin vermilion border, Retrognathia, Cleft palate |
ORPHA:2631 |
| Oculoskeletodental Syndrome |
|
Thick nasal alae, Depressed nasal bridge, Abnormality of the dentition, Dysplastic corpus callosu... |
ORPHA:557003 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Microcephaly, Micrognathia, Cryptorchidism, High palate, Retrognathia |
OMIM:611890 |
| Keipert Syndrome |
|
Wide nose, Exaggerated cupid's bow, Prominent nose, Downturned corners of mouth, Macrocephaly, Th... |
OMIM:301026 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
| Dystonia 30 |
|
Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility-weighted imaging, Hypot... |
OMIM:619291 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Submucous cleft hard palate... |
OMIM:222765 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl... |
OMIM:614669 |
| Diastrophic Dysplasia |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Cleft palate, Full cheeks, Macrocephaly, Mi... |
ORPHA:628 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Broad nasal tip, Recurrent upper respiratory tract infe... |
ORPHA:391372 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Partial agenesis of the corpus callosum, Simplified gyral ... |
OMIM:615948 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Ventriculomegaly, Exaggerated cupid's bow, Prominent nasal bridge, Micrognathia, Cryptorchidism, ... |
OMIM:618659 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft palate |
OMIM:614120 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, M... |
ORPHA:293939 |
| Smith-Kingsmore Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Ventriculomegaly, Depressed nasal bridge, Wide anterio... |
OMIM:616638 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... |
OMIM:619736 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Depressed nasal bridge, Carious teeth, Wide nasal bridge, Full cheeks, Thick vermilion border, Wi... |
OMIM:617102 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Congenital Hydrocephalus |
|
Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Macrocephaly, Ventriculomegaly |
ORPHA:2185 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Brachycephaly, Short philtrum, Holoprosencephaly, Median cleft palate, Bif... |
ORPHA:1449 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Frontal bossing, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal bridge, High palate, Mala... |
ORPHA:98791 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Retinal pigment epithelial mo... |
OMIM:619517 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Carious teeth, Trismus, Full c... |
OMIM:272430 |
| Marshall Syndrome |
|
Thickened calvaria, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent frontal sinuse... |
OMIM:154780 |
| Isotretinoin Syndrome |
|
Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bifida occulta |
ORPHA:2305 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Convex nasal ridge,... |
OMIM:618870 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Frontal bossing, Dilated fourth ventricle, Depressed nasal bridge, Hydrocephal... |
OMIM:220220 |
| Gaba-Transaminase Deficiency |
|
Retrognathia, Agenesis of corpus callosum |
OMIM:613163 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Downturned corners of mouth, Lissencephaly, Cerebellar hypoplasia... |
OMIM:616342 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... |
OMIM:618736 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding to... |
OMIM:610253 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Prominent nasal bridge, Microcephaly, Cryptorchidism, Bra... |
OMIM:617452 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Underdeveloped nasal alae, Brachycephaly, Orofacial cleft, Bifid uvula, Midline ... |
OMIM:229400 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Midface retrusion, Microcephaly |
OMIM:618379 |
| Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor... |
OMIM:302350 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Holopros... |
ORPHA:93274 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Frontal bossing, Thin upper lip vermilion, Prominent nasal tip, Depressed ... |
ORPHA:439822 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Preauricular pit, Frontal bossing, Tented upper lip vermilion, Dental crowding, Depressed nasal b... |
OMIM:612582 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Microcephaly, Brachycephaly, Ret... |
OMIM:263210 |
| 2Q24 Microdeletion Syndrome |
|
Coloboma, Abnormal oral frenulum morphology, Short philtrum, Cleft palate |
ORPHA:1617 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Cleft palate, Plagiocephaly, Microdontia |
OMIM:605282 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Anteverted nares, Microcephaly, High palate, Long philtrum, Retrognathia |
OMIM:619026 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Holoprosencephaly 14 |
|
Median cleft lip, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Cleft ... |
OMIM:619895 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Coloboma |
OMIM:616490 |
| Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Supernumerary nipple, Cleft upper lip, Conical tooth, Carious teeth, Velo... |
OMIM:129400 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, High pala... |
OMIM:614069 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Frontal bossing, Prominent nasal bridge, Underdeveloped nasal alae, Precocious puberty, Thin verm... |
OMIM:300801 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Microcephaly, Cryptor... |
ORPHA:163976 |
| Anauxetic Dysplasia 3 |
|
Depressed nasal bridge, Wide anterior fontanel, Plagiocephaly, Oligodontia, Retrognathia, Midface... |
OMIM:618853 |
| Abruzzo-Erickson Syndrome |
|
Cleft palate, Coloboma, Chorioretinal coloboma, Malar flattening, Iris coloboma, Abnormal palate ... |
ORPHA:921 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Micrognathia, Thin calvarium, Short nose, Midface retrusion |
ORPHA:1129 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Frontal bossing, Narrow nasal ridge, Microcephaly, Bulbous nose, Hydrocephalus, Premature sagging... |
OMIM:612940 |
| Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition |
OMIM:183400 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Microcephaly, Hypoplasia of the pons, Coloboma, Cerebellar hypoplasia, Hypoplasia of the corpus c... |
OMIM:617695 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Agenesis of corp... |
ORPHA:77298 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dow... |
OMIM:613443 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| 16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Ventriculomegaly, Anteverted nares, Micrognathia, Cryptorchidism, Wide mouth, Co... |
ORPHA:261250 |
| Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Absent septum pellucidum, Micrognathia, Deep philtrum, Everted lower li... |
OMIM:613884 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... |
ORPHA:2673 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge |
OMIM:614564 |
| Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia... |
OMIM:158170 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Mic... |
OMIM:300260 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... |
OMIM:615219 |
| Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Hydrocephalus, Lateral ventricl... |
OMIM:614219 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Wide nose, Abnormal dental... |
ORPHA:192 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Craniosynostosis, Micrognathia, Lateral ventricle dilatation, Primary mic... |
ORPHA:284417 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermilio... |
ORPHA:363444 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Wide nose, Prominent nose, Thick vermilion border, Brachyturricephaly, Everted lower lip vermilio... |
OMIM:300280 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Malar flattening, Cleft palate, Micrognathia |
OMIM:183700 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Supernumerary nipple, Microcephaly, Bulbous nose, Narrow palate, Depressed nasal tip, Prominent o... |
OMIM:604314 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Hypoketotic hyp... |
ORPHA:276580 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Anteverted nares, Microcephaly, Abnormality of the endocrine system, Cryptorchidism, Depressed na... |
ORPHA:464288 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Preauricular pit, Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular ra... |
OMIM:170390 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Wide nose, Hypergonadotropic hypogonadism, Decreased response to growt... |
ORPHA:280679 |
| Miller-Dieker syndrome (MDS) |
|
Frontal bossing, Midface retrusion, Microcephaly |
DECIPHER:21 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Abnormal substantia nigra morphology, Peripheral axonal neuropathy, Hypo... |
ORPHA:2822 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, Convex nasal ri... |
OMIM:210740 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Downtu... |
OMIM:156200 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... |
ORPHA:3253 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Microcephaly, Wide nasal b... |
OMIM:615716 |
| Cog7-Cdg |
|
Micrognathia, Narrow mouth, Primary microcephaly, Retrognathia, Progressive microcephaly |
ORPHA:79333 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Aplasia of the nasal bone, Prominent nasal bridge, Co... |
OMIM:601812 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Microcephaly, Abnormal globus pallidus morphology, Cleft palate, High palate, Hypoplasia of the c... |
OMIM:618603 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cleft upper lip, Microcephaly, Hydrocephalus, Holoprosencephaly, Cyclopia, Polymic... |
OMIM:264480 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin... |
ORPHA:364577 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Op... |
ORPHA:99742 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Wide nose, Flat occiput, Prominent nasal bridge, Microcephaly, Cryptorc... |
ORPHA:505237 |
| Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Optic atrophy, High palate, Microcephaly |
OMIM:245349 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly... |
OMIM:257300 |
| Trichodentoosseous Syndrome |
|
Frontal bossing, Taurodontia, Widely spaced teeth, Dolichocephaly, Microdontia |
OMIM:190320 |
| Peho Syndrome |
|
Ventriculomegaly, Anteverted nares, Microcephaly, Hydrocephalus, Short nose, Gingival overgrowth,... |
ORPHA:2836 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Trigonocephaly, Cleft palate, Micrognathia |
ORPHA:1779 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid ... |
ORPHA:276556 |
| Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Mi... |
OMIM:243605 |
| Myopathy, Centronuclear, 5 |
|
Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula |
OMIM:615959 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Micrognathia, Underdeveloped nasal alae, Wide mouth, Thick vermilion border, High palate, Short p... |
OMIM:300986 |
| Radio-Tartaglia Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bri... |
OMIM:619312 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Unilateral cryptorchidism, Midface retrusion, Cleft palate, Micrognathia |
OMIM:300946 |
| Peho Syndrome |
|
Tented upper lip vermilion, Full cheeks, Progressive microcephaly, Open mouth, Retrognathia, Shor... |
OMIM:260565 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge, Dolichocephaly |
OMIM:167730 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteini... |
ORPHA:3044 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Microcephaly, Protruding tongue, Short nose, Midface retrusion |
DECIPHER:52 |
| Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Retrognathia |
OMIM:617194 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Micrognathia, Carious teeth, Alveolar ridge overgrowth, Wide nasal bridge, Downturned corners of ... |
OMIM:620070 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
| Carpenter Syndrome 1 |
|
Preauricular pit, Depressed nasal bridge, Sagittal craniosynostosis, Persistence of primary teeth... |
OMIM:201000 |
| Larsen-Like Syndrome |
|
Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Cleft palate, Absent... |
OMIM:608545 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft palate, Hypoplasia of the corpus callosum, Agenesis of corpus callos... |
OMIM:164180 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Micrognathia, Hydrocephalus, Dentinogenesis imperfe... |
OMIM:112240 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Decreased response ... |
OMIM:616835 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Agenesis of corpus callosum |
OMIM:618238 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Prominent nasal bridge, Micrognathia, Microcephaly, Dysplastic corpus callosum, Wide mouth, Retro... |
OMIM:604273 |
| Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Cryptorchidism, Wide nasal bridge, Cleft palate, High p... |
OMIM:618388 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Co... |
OMIM:619955 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Tented upper lip vermilion, Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy,... |
OMIM:618346 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Hurthle cell thyroid adenoma, Thyr... |
ORPHA:210548 |
| Aarskog-Scott Syndrome |
|
Decreased serum testosterone concentration, Anteverted nares, Elevated circulating luteinizing ho... |
OMIM:305400 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachycephaly, Anteri... |
OMIM:211380 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Bulbous nose, Pierre-Robin sequence, Clef... |
OMIM:215150 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Narrow mouth, Po... |
OMIM:614833 |
| Glycine Encephalopathy 1 |
|
Death in infancy, Agenesis of corpus callosum |
OMIM:605899 |
| Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Bilateral cryptorchidism, Depressed nas... |
OMIM:613451 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an... |
OMIM:601390 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Hydrocephalus, ... |
OMIM:207410 |
| Mucolipidosis Iv |
|
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Optic atrophy, Retinal degener... |
OMIM:252650 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Ventriculomegaly, Flat occiput, Micrognathia, Thyroid lymphangiectasia,... |
OMIM:235255 |
| 16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... |
ORPHA:485405 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Supernumerary nipple, Pyloric stenosis, Wide anterior ... |
ORPHA:457279 |
| Trisomy 18 |
|
Microretrognathia, Abnormality of retinal pigmentation, Spina bifida, Microcephaly, Esophageal at... |
ORPHA:3380 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Cleft palate, Short nose, Progressive microcephaly |
OMIM:614261 |
| Stickler Syndrome, Type I |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Submucous cleft hard palate, Pierre-Robin... |
OMIM:108300 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... |
OMIM:614188 |
| Apert Syndrome |
|
Mandibular prognathia, Brachycephaly, Choanal stenosis, Agenesis of corpus callosum, Bifid uvula,... |
OMIM:101200 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Sh... |
ORPHA:94066 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Wide nose, Choanal atresia, Microcephaly, Esophageal atresia, Submucous cleft h... |
OMIM:619227 |
| Tetraploidy |
|
Micrognathia, Microcephaly, Cleft palate, Aplasia/Hypoplasia of the thymus, Short philtrum, Bipar... |
ORPHA:3305 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Depressed nasal bridge, Thyroid lymphangiectasia, Cryptorchidism, Rect... |
OMIM:235510 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... |
OMIM:608572 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... |
OMIM:615546 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Coloboma, Hypoplasia of the brainstem, Retinal dysplasia, Pachygyria, Ag... |
OMIM:236670 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Cleft palat... |
OMIM:619493 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal... |
OMIM:604360 |
| Hypotonia-Cystinuria Syndrome |
|
Frontal bossing, Retrognathia, Dolichocephaly |
ORPHA:163690 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Long philtrum, Agenesis of co... |
OMIM:300887 |
| Marbach-Rustad Progeroid Syndrome |
|
Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Eruption failu... |
OMIM:619322 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Tr... |
OMIM:618265 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Death in infancy, Agyria, Remnants of the hyaloid vascular sys... |
OMIM:614643 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diastema, ... |
OMIM:300534 |
| Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Absent nasal bridge, Midface retrusion |
ORPHA:171866 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Lateral ventricle dilatation, Macrocephaly, Spina bifida occulta, Midface retrusion... |
OMIM:618291 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, High palate, Choanal stenosis, Anteverted nares, Depressed nasal b... |
OMIM:615485 |
| Jacobsen Syndrome |
|
Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Pyloric steno... |
OMIM:147791 |
| Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Preauricular pit, Turricephaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long nose... |
OMIM:620224 |
| Malan Overgrowth Syndrome |
|
Frontal bossing, Depressed nasal bridge, Scaphocephaly, Macrocephaly, Plagiocephaly, Lateral vent... |
ORPHA:420179 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Microcephaly |
ORPHA:1445 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Frontal bossing, Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia of... |
ORPHA:313892 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
| Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Decreased response to gr... |
OMIM:601808 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Cleft palate, Lobulated tongue, Retrognathia, Agenesis of corpus callosum |
OMIM:614815 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Prominent nasal bridge, Choanal atresia, Cleft palate, High palate, Macrocephaly, Retrognathia, A... |
ORPHA:52055 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, H... |
OMIM:614437 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level... |
ORPHA:276575 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Optic disc pallor, Dysplastic corpus callosum, Retrobulbar optic neuritis, Thi... |
OMIM:619737 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Frontal bossing, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microcepha... |
OMIM:614105 |
| Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Frontal bossing, Microretrognathia, Craniosynostosis, Scaphocephaly, Wide ... |
ORPHA:397612 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth, Hypoplasia of the... |
OMIM:106260 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Flat occiput, Micrognathia, Microcephaly, High, narrow palate, Brachycephaly, Wide mouth, Abnorma... |
ORPHA:2707 |
| Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Depressed nasal bridge, Hypogonadotropic hypogonadism, Micrognathia, Hy... |
OMIM:212720 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Depressed nasal ridge, Midface retrusion |
OMIM:118651 |
| Nablus Mask-Like Facial Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Craniosynost... |
OMIM:608156 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Postauricular skin tag, Dental malocclusion, Cleft palate, Mandibu... |
OMIM:602483 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Progressive macroc... |
OMIM:615108 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Thick vermilion b... |
OMIM:620113 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
| Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Temporal cortical atrophy, Coloboma, Retinal dysplasia, Hypoplasia... |
OMIM:615665 |
| Gapo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Mandibular prognathia, Anteverted nares, Depressed na... |
ORPHA:2067 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Malar flattenin... |
OMIM:614592 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Partial ... |
OMIM:222448 |
| Poikiloderma With Neutropenia |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, ... |
OMIM:604173 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Exaggerated cupid's bow, Dysgenesis of the basal ganglia, High palate, Lissencephaly, Cerebellar ... |
OMIM:620316 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wid... |
OMIM:182212 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Pierre-Ro... |
OMIM:611209 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
| Short Syndrome |
|
Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygo... |
ORPHA:3163 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Absent nasal bridge, Malar flattening, Midface retr... |
OMIM:612813 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Optic nerve hypoplasia, Abnormal paranasal sinus morphology, A... |
ORPHA:141099 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Microcephaly, High, narrow palate, Cryptorchidi... |
OMIM:612513 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Prominent nasal bridge, Narrow mouth, Cryptorchidism, Abnormal mandible ... |
ORPHA:2215 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Ventriculomegaly, Abnormality of the dentition, Precocious puberty, Microcephaly, Th... |
ORPHA:261652 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Depressed nasal bridge, Diabetes insipidus, Microcephaly, Lobar holoprosencep... |
OMIM:618500 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... |
ORPHA:79159 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Retrognathia, High palate, Gingival overgrowth, Smooth philtrum |
OMIM:619422 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Hydrocepha... |
ORPHA:220493 |
| Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O... |
OMIM:607196 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Encephalocele, Dandy-Walker malformation, Relative macrocephaly, ... |
OMIM:616300 |
| Weaver Syndrome |
|
Micrognathia, Cryptorchidism, Deep philtrum, Macrocephaly, Long philtrum, Retrognathia |
ORPHA:3447 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Dental crowding, Brachycephaly, High palate, Narrow mouth, Short nose, Midface r... |
OMIM:615539 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Retrognathia, High palate, Ventriculomegaly, Microcephaly |
OMIM:615330 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Microcephaly, Cleft lip, Optic atrophy, Hypoplastic anterior commissure, Furrowed t... |
OMIM:616975 |
| Marshall-Smith Syndrome |
|
Ventriculomegaly, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Gingiva... |
ORPHA:561 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Microcephaly, Cleft palate, Malar flattening |
OMIM:215100 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Macrodontia, Hypoplasia of the premaxilla, Depressed nasal bridge, Cleft upper l... |
ORPHA:1106 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Microcephaly, Cryptorchidis... |
OMIM:619244 |
| Desmosterolosis |
|
Frontal bossing, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Abnormality of the... |
ORPHA:35107 |
| Greenberg Dysplasia |
|
Calvarial skull defect, Midface retrusion, Micrognathia |
ORPHA:1426 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hy... |
ORPHA:306542 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Communicating hydrocephalus, Abnormal d... |
ORPHA:2050 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Retrognathia, Convex nasal ridge |
OMIM:210700 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Retrognathia, Cleft palate |
OMIM:620269 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Progressive microcephaly, Thin vermili... |
ORPHA:481152 |
| Srd5A3-Cdg |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atrophy, Colo... |
ORPHA:324737 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Dental crowding, Intestinal malrotation, Narrow nose, Carious teeth, Long nose, ... |
OMIM:617602 |
| Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion ... |
OMIM:301025 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Optic atrophy, Orofacial cleft, Narrow mouth, Agenesis of c... |
ORPHA:3301 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Midface retrusion, Delayed puberty |
ORPHA:314802 |
| Orofaciodigital Syndrome X |
|
Retrognathia, Depressed nasal bridge, Cleft palate |
OMIM:165590 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ... |
OMIM:619995 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Depressed nasal bridge, Downturned corners of mouth, Wide mouth, Thin vermilion border, Macroceph... |
OMIM:300860 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Anteverted nares, Depresse... |
OMIM:146510 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Frontal bossing, Micrognathia, Cleft palate, Glossoptosis, Midface retrusion |
ORPHA:440354 |
| Rhizomelic Syndrome, Urbach Type |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Wide anterior fontanel, Abnormality of the to... |
ORPHA:3098 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cortical dysplasia, Simplified gyral pattern, Abnormal periventricular white matter morphology, P... |
ORPHA:468631 |
| Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, D... |
OMIM:618820 |
| 2Q23.1 Microduplication Syndrome |
|
Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, Prominent nose, Bulbous ... |
ORPHA:313947 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Smooth philtrum |
OMIM:611867 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Agenes... |
OMIM:200990 |
| Coffin-Siris Syndrome 3 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Cleft palate, Wide mouth, Macr... |
OMIM:614608 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Abnormal midface morphology, Hypoplasia of the maxilla, Brachycephaly, Ant... |
ORPHA:1299 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Tooth agenesis, Frontal bossing, Midface retrusion |
OMIM:600204 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Choanal atresia, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion |
OMIM:612247 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Retrognathia, Dental crowding, Micrognathia |
OMIM:617468 |
| 15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Turricephaly, Dandy-Walker malformation, Dental crowdin... |
ORPHA:314585 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cle... |
OMIM:601349 |
| Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of ... |
ORPHA:2512 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Cleft palate, ... |
ORPHA:220497 |
| Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
ORPHA:177907 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Absent sept... |
ORPHA:95494 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Progressive macroc... |
OMIM:615109 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Maturity-onset diabetes of the young, Microg... |
ORPHA:96184 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Cryptorchidis... |
OMIM:616894 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Midline notch of upp... |
OMIM:617127 |
| Cerebellar-Facial-Dental Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Dental malocclusion, Alveolar ridge... |
ORPHA:444072 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Brachycephaly, Malar flatte... |
OMIM:600430 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Decreased calvarial o... |
OMIM:619879 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased testicular size, Thin upper lip vermilion, Flat occiput, Broad nasal tip, Bulbous nose,... |
ORPHA:3041 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Frontal bossing, Short philtrum, Midface retrusion |
OMIM:614257 |
| 20Q11.2 Microdeletion Syndrome |
|
Frontal bossing, Short philtrum, Midface retrusion |
ORPHA:444051 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Retrognathia, Depressed nasal bridge, Micrognathia |
ORPHA:1899 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Preauricular pit, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Microcephaly, Cle... |
ORPHA:2516 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Retrognathia, High palate |
OMIM:161800 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atroph... |
ORPHA:500144 |
| Foxg1 Syndrome |
|
Optic disc hypoplasia, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus callosum... |
ORPHA:561854 |
| Renpenning Syndrome |
|
Mandibular prognathia, Decreased testicular size, Diabetes mellitus, Macrodontia, Prominent nose,... |
ORPHA:3242 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Thin upper lip vermilion, Macrodontia, Anteverted nares, Microcephaly, Lateral ventricle dilatati... |
OMIM:618606 |
| Microphthalmia With Brain And Digit Anomalies |
|
Retinal dystrophy, Microcephaly, High palate, Chorioretinal coloboma, Inferior cerebellar vermis ... |
ORPHA:139471 |
| King-Denborough Syndrome |
|
Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Deep philtrum, Scaphocephaly, High pal... |
OMIM:619542 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Dental crowding, Short lingual frenulum, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip, Trismus, Cryptorchidism,... |
OMIM:254940 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Rabin-Pappas Syndrome |
|
Mandibular prognathia, Micrognathia, Broad nasal tip, Microcephaly, Hydrocephalus, Wide nasal bri... |
OMIM:620155 |
| 1Q44 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Intestinal malrotation, Optic disc hypoplasia, Microcephaly, Hydrocephal... |
ORPHA:238769 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Prominent nasal bridge, Protruding tongue, Diastema, Microcep... |
OMIM:212066 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Rec... |
ORPHA:2399 |
| Steinfeld Syndrome |
|
Retinal coloboma, Holoprosencephaly, Iris coloboma, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
| Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... |
OMIM:105830 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Frontal bossing, Thin upper lip vermilion, Bulbous nose, Plagiocephaly, Oligodontia, Lateral vent... |
OMIM:618330 |
| Short Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Micrognathia, Underdeveloped nasal alae, Insulin-resi... |
OMIM:269880 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Bu... |
OMIM:618430 |
| Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Frontal bossing, Flat occiput, Depressed nasal ridge, Gingival overgrowth,... |
OMIM:248500 |
| Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Open bite, Hypoplasia of the ma... |
ORPHA:794 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly |
OMIM:619466 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Micrognathia, Aqueductal stenosis, Partial agenesis of the corpus callosum... |
OMIM:619512 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal at... |
ORPHA:314679 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy... |
OMIM:225790 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Bulbous nose, Brachycephaly, Full cheeks, Downt... |
OMIM:616708 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Frontal bossing, Wide nose, Ventriculomegaly, Micrognathia, Microcephaly, D... |
ORPHA:1052 |
| 15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Decreased response to growth hormone stimulation test, Abnormality of the dentit... |
ORPHA:94065 |
| Wieacker-Wolff Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, High palate, Broad alveolar ridges, Long philtrum, ... |
OMIM:314580 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Micrognathia, Microcephaly, Cryptorchidism, Brachycephaly, Cleft palate, Oligodo... |
OMIM:600325 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, Microcephaly, Bulbous nose, Full cheeks, Thick vermilion border, Dolichocephal... |
ORPHA:1446 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Cleft upper lip, Precocious puberty, Microcephaly, Bulbous nose, Brachycephaly,... |
OMIM:300958 |
| Alexander Disease Type I |
|
Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology,... |
ORPHA:363717 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Frontal bossing, Micrognathia, Subependymal cysts, Lateral ventricle dilatation, Macrocephaly |
OMIM:600721 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Cry... |
OMIM:614607 |
| Lissencephaly 6 With Microcephaly |
|
Thin upper lip vermilion, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral... |
OMIM:616212 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Micrognathia, Microcephaly, Recurrent upper respiratory tract infection... |
ORPHA:3078 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Retrognathia, Prominent nose, Long philtrum |
OMIM:619691 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Cleft palate, Malar flattening, Shor... |
ORPHA:2145 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hydroceph... |
ORPHA:459061 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Micrognathia, Microcephaly, Gingival overgrowth, Narrow palate, Thick vermilion border, High pala... |
OMIM:618186 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Midface retrusion, Cleft palate, Micrognathia |
OMIM:606164 |
| Temtamy Syndrome |
|
Dental crowding, Thick corpus callosum, Hypoplasia of teeth, Chorioretinal coloboma, Long philtru... |
OMIM:218340 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Microceph... |
OMIM:174300 |
| Cranioectodermal Dysplasia |
|
Frontal bossing, Anteverted nares, Abnormal dental enamel morphology, Craniosynostosis, Abnormali... |
ORPHA:1515 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnormality of the dentiti... |
ORPHA:193 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Micrognathia, Hydrocephalus, Cleft palate, Malar flattening, Midface retrusion |
OMIM:224400 |
| Hypohidrotic Ectodermal Dysplasia |
|
Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dent... |
ORPHA:238468 |
| Intellectual Developmental Disorder, X-Linked 108 |
|
Thin upper lip vermilion, Midface retrusion, Long philtrum |
OMIM:301024 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Cryptorchidism, Microce... |
OMIM:613026 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
| Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion |
ORPHA:140936 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia |
OMIM:166300 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Holoprosencephaly, Microcephaly |
ORPHA:2163 |
| Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Prominent nose, Fused teeth, High palate, Malrotation of colon, Cr... |
ORPHA:93932 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Decreased response to growth hormone stimulation t... |
OMIM:616007 |
| Distal Deletion 10P |
|
Micrognathia, Microcephaly, Cryptorchidism, Non-midline cleft lip, Wide nasal bridge, Cleft palat... |
ORPHA:1580 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, H... |
ORPHA:2462 |
| Cleidocranial Dysplasia 2 |
|
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... |
OMIM:620099 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Prominent nose, Microcephaly, Bulbous nose, Wide nasal bridge, High palate |
OMIM:606220 |
| Diprosopus |
|
Abnormality of retinal pigmentation, Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res... |
OMIM:129900 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, ... |
ORPHA:163649 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:300845 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
| Kagami-Ogata Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill... |
OMIM:608149 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Microcephaly, Wide mouth, Thick ve... |
OMIM:619576 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Hypoplasia of the pons, Optic atrophy, Hig... |
ORPHA:1493 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypogonadotropic hypogonadism, Microcephaly, Carious teeth, Central adrenal insufficiency, Small ... |
OMIM:612079 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Short upper lip, Macroglossia, Secondary microcephaly, Midface retrusion, Ventriculomegaly |
OMIM:615809 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Intestinal malrotation, Prominent nasal bridge, Cryptorchidism, Wide na... |
ORPHA:401935 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Prominent nasal bridge, Micrognathia, High palate, Short philtrum, Malar flattening, Midface retr... |
OMIM:609944 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Frontal bossing, Abnormality of the dentition, Microcephaly, Cleft palate, Ect... |
ORPHA:2994 |
| Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... |
OMIM:220210 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Cleft palate, Tooth agenesis, Agenesis of corpus callosum, Iris coloboma |
OMIM:147950 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Mend Syndrome |
|
Prominent nasal bridge, Micrognathia, Asymmetry of the mouth, Wide anterior fontanel, Hydrocephal... |
ORPHA:401973 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, High palate, Macrocephaly, Ret... |
OMIM:300472 |
| Developmental And Epileptic Encephalopathy 49 |
|
Tented upper lip vermilion, Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Hyd... |
OMIM:617281 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Protruding tongue, Diastema, Abs... |
OMIM:301040 |
| 20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microcephaly, Cryptorchidis... |
ORPHA:363659 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Bifid uvula, Sagittal craniosynostosis, Cr... |
OMIM:616580 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Neurogenic bladder, Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern... |
OMIM:617669 |
| Otospondylomegaepiphyseal Dysplasia |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft palate, Glossoptosis, Midface retru... |
ORPHA:1427 |
| 7Q31 Microdeletion Syndrome |
|
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Macrocephaly, Plagiocephaly, Wide mo... |
ORPHA:251061 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Agenesis of corpus callosum |
OMIM:610498 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Prominent nasal bridge, Craniosynostosis, Narrow nasal ridge, High... |
OMIM:616914 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
| 3M Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Anteverted nares, Abnormal dental enamel morphology, ... |
ORPHA:2616 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Depressed nasal bridge, Unilateral cryptorchidism, Cleft upper lip, Deep philtru... |
OMIM:206920 |
| Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Cryptorchidism, Bulbous nose, Flared nostrils, Dental... |
OMIM:616737 |
| Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Frontal bossing, Mandibular prognathia, Cloverleaf skull, Anteverted n... |
OMIM:166250 |
| Acrofrontofacionasal Dysostosis |
|
Broad nasal tip, Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion,... |
ORPHA:1784 |
| Iniencephaly |
|
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... |
ORPHA:63259 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Absent nipple, Anteverted nares, Mic... |
OMIM:209885 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Abnormality of the ovary, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia |
ORPHA:2975 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Dental malocclusion, Wide nasal b... |
OMIM:269500 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormality of taste sensation, Sinusitis, Facial palsy, Abnormal basal ganglia morphology, Abnor... |
ORPHA:68 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:2508 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral atrophy |
OMIM:619057 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palate, Macrocephaly, Platybasia, Midface... |
ORPHA:261197 |
| Treacher Collins Syndrome 2 |
|
Preauricular pit, Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Hypoplasia of t... |
OMIM:613717 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
| Spinocerebellar Ataxia With Epilepsy |
|
Cerebral infarct, Optic atrophy, Focal T2 hyperintense thalamic lesion, Movement abnormality of t... |
ORPHA:254881 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Cleft u... |
OMIM:605039 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Bilateral cryptorchidism, Lateral ventricle dilatation, Anteverted nares |
OMIM:300982 |
| Short Stature, Brussels Type |
|
Microretrognathia, Calcification of cartilage, Macrocephaly |
ORPHA:2867 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Depressed nasal bridge, Anteverted nares, Microcephaly, Dolichocephaly, Trigonocephaly, Retrognat... |
OMIM:617301 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Macrocephaly/Autism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Hydrocele testis, High palate, Biparietal narrowing, Lon... |
OMIM:605309 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia, Dandy-Walker malform... |
ORPHA:217 |
| Desbuquois Dysplasia 1 |
|
Microretrognathia, Depressed nasal bridge, Narrow mouth, Concave nasal ridge, Long philtrum, Mala... |
OMIM:251450 |
| Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Aqueductal stenosis, Brachycephaly, High palate, Short nose, Midface retr... |
ORPHA:93258 |
| Schneckenbecken Dysplasia |
|
Cleft palate, Umbilical hernia, Macrocephaly, Malar flattening, Short nose, Midface retrusion |
OMIM:269250 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Retrognathia, Widely spaced teeth, Microcephaly |
OMIM:619092 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Thin upper lip vermilion, Microcephaly, Wide mouth, Agenesis of corpus callosum, Smooth philtrum |
OMIM:619989 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Microcephaly, Cleft palate, Furrowed tongue, High p... |
OMIM:616449 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Broad nasal tip, Bifid nasal tip, Microcephaly, Wide mouth, Median pseudocleft lip, Umbilical her... |
OMIM:619758 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Anteverted nares, Prominent nasal bridge, Microcephaly, Plagiocephaly, ... |
OMIM:617751 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tac... |
OMIM:212138 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Dental crowding, Narrow nasal ridge, Microcephaly, Open bite, Cryptorchidi... |
OMIM:620083 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Flat occiput, Micrognathia, Broad nasal tip, Cryptorc... |
ORPHA:1655 |
| Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Morning glory anomaly, Cleft lip, Cleft palate, Coloboma |
ORPHA:91412 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Dysplastic corpus callosum, Gingival overgro... |
OMIM:616900 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow mouth, Precoc... |
ORPHA:2588 |
| Faciocardiomelic Dysplasia, Lethal |
|
Microglossia, Retrognathia, Micrognathia, Narrow mouth |
OMIM:227270 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Underdeveloped nasal alae, Microcephaly, Cryptorchidism, Velopharyngeal insuf... |
OMIM:192430 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Iris coloboma, Chorioretinal coloboma, Cleft palate, Cleft upper lip |
OMIM:120433 |
| Curry-Jones Syndrome |
|
Iris coloboma, Optic disc coloboma, Agenesis of corpus callosum, Intestinal malrotation |
ORPHA:1553 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Microretrognathia, Aganglionic megacolon, M... |
OMIM:613603 |
| Congenital Disorder Of Deglycosylation 2 |
|
Hamartoma of tongue, Micrognathia, Partial agenesis of the corpus callosum, Macroglossia, High pa... |
OMIM:619775 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Open ... |
OMIM:616362 |
| Zimmermann-Laband Syndrome 2 |
|
Underdeveloped nasal alae, Bifid nasal tip, Deep philtrum, Gingival overgrowth, Macroglossia, Thi... |
OMIM:616455 |
| Trisomy 12P |
|
Turricephaly, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Full cheeks, D... |
ORPHA:1699 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Wide anterior fontanel, Depressed nasal bridge, Midface retrusion |
OMIM:617241 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Wide nasal bridge, Prominent occiput, Abnormal calvaria morphology,... |
ORPHA:89844 |
| Wt Limb-Blood Syndrome |
|
Cryptorchidism, Retrognathia, Micrognathia |
OMIM:194350 |
| Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, High palate, Lissencephaly, Long philtrum, Long upper lip, Pachygyria, ... |
OMIM:300215 |
| Distal Deletion 10Q |
|
Frontal bossing, Thin upper lip vermilion, Prominent nasal bridge, Craniosynostosis, Micrognathia... |
ORPHA:96148 |
| Craniosynostosis 6 |
|
Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Brach... |
OMIM:616602 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla |
OMIM:608154 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Ventriculomegaly, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Macrocepha... |
ORPHA:1394 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Downturned corners of mouth, High palate, Short philtrum, Bifid uvula,... |
OMIM:617140 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro... |
ORPHA:404440 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Progressive macroc... |
OMIM:158350 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Anteverted nares, Micrognathia, Precocious puberty, High, narrow palate, Cryptorchidism, Abnormal... |
ORPHA:96092 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Anteverted nares, Depressed nasal brid... |
OMIM:268310 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrocephalus, Anence... |
OMIM:269860 |
| Cog5-Cdg |
|
Prominent nose, Microcephaly, Cryptorchidism, Wide nasal bridge, Lateral ventricle dilatation, Hi... |
ORPHA:263487 |
| Cleidocranial Dysplasia 1 |
|
Frontal bossing, Depressed nasal bridge, Delayed eruption of primary teeth, Micrognathia, Absent ... |
OMIM:119600 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Full che... |
ORPHA:3219 |
| Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Macrocephaly, Midface r... |
ORPHA:2655 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Dysplastic corpus callosum, Simp... |
OMIM:620001 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Choanal atresia, Narrow nose, Microc... |
OMIM:301044 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ganglia necrosis, ... |
ORPHA:79243 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... |
OMIM:615095 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely s... |
ORPHA:79500 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Overhanging nasal tip, Cleft soft palate, Eosinophilic infiltration o... |
OMIM:615582 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Microcephaly, Cryptorchidism, Hypogonadism, High palate, Retrognathia |
ORPHA:85323 |
| Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum, Dental malocclusion |
OMIM:615314 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Prominent nose, Abnormal mandible condylar process morphology, Increased circu... |
ORPHA:2976 |
| Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Diabetes mellitus, Micrognathia, Microcephaly, Wide nasal bridge, Incre... |
OMIM:270450 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Neu-Laxova Syndrome |
|
Ventriculomegaly, Abnormality of the philtrum, Spina bifida, Micrognathia, Microcephaly, Trismus,... |
ORPHA:2671 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Underdeveloped nasal alae, Microcephaly, Cryptorchidism, Wide mouth, Thin v... |
ORPHA:217346 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Frontal bossing, Anteverted nares, Micrognathia, Bifid nasal tip, Cleft lip, Microcephaly, Cleft ... |
OMIM:619343 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Anteverted nares, Depressed nasal bridge, Persist... |
ORPHA:97360 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat... |
OMIM:180849 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Microcephaly, Carious teeth, Br... |
OMIM:619229 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Tented upper lip vermilion, Noncommunicating hydrocephalus, Downturned... |
OMIM:619320 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microcephaly, Non-midline cleft lip, Cl... |
ORPHA:1915 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Cho... |
ORPHA:464738 |
| Arthrogryposis, Distal, Type 1A |
|
Cryptorchidism, Trismus, Narrow mouth, Long nasal bridge, Retrognathia |
OMIM:108120 |
| Orofaciodigital Syndrome Xvi |
|
Ventriculomegaly, Retrognathia, Depressed nasal bridge, Hamartoma of tongue |
OMIM:617563 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Craniosynostosis, Microcephaly, Cryptorchidism, Megarectum, Hypodontia, Macrocephaly, Retrognathi... |
OMIM:301056 |
| Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Thick lower lip vermilion,... |
OMIM:613804 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Aganglionic megacolon, Micrognathi... |
ORPHA:818 |
| Kapur-Toriello Syndrome |
|
Intestinal malrotation, Pachygyria, Dysplastic corpus callosum, Orofacial cleft, Retinal coloboma... |
ORPHA:2328 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Choanal atresia, Cleft lip, Cryptorchi... |
OMIM:603457 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Anteverted nares, High, narrow palate, Hydrocephalus, ... |
OMIM:612863 |
| Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Retrognathia, Dolichocephaly |
OMIM:617352 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Cerebral calcification, Chorioretinitis, Coloboma, Hypoplasia... |
ORPHA:199276 |
| Nizon-Isidor Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Downturned corners of mouth, Short philtrum, Evert... |
OMIM:618872 |
| Diamond-Blackfan Anemia 6 |
|
Micrognathia, Cleft upper lip, Cleft palate, Retrognathia, Bifid uvula |
OMIM:612561 |
| Kniest Dysplasia |
|
Depressed nasal bridge, Cleft palate, Umbilical hernia, Abnormal cartilage collagen, Malar flatte... |
OMIM:156550 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Frontal bossing, Relative macrocephaly, Anteverted nares, Depressed nasal ... |
OMIM:271510 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Frontal bossing, Midface retrusion |
OMIM:617820 |
| Keutel Syndrome |
|
Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, Calcification of cartilage, Recurre... |
ORPHA:85202 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum, Abnormality of the dentition |
ORPHA:2101 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Frontal bossing, Everted upper lip vermilion, Absent nipple, Depressed nasal bridge, Abnormal ora... |
OMIM:305100 |
| Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Sho... |
OMIM:234050 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Wide nasal bridge |
OMIM:614870 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Micrognathia, Cleft upper lip, Microcephaly, Cleft palate, Bifid nose, Narrow mouth |
OMIM:239800 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Trisomy 17P |
|
Wide nose, Micrognathia, Prominent nose, Microcephaly, Hydrocephalus, Orofacial cleft, Cleft pala... |
ORPHA:261290 |
| Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cleft palate, Neonata... |
ORPHA:85284 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Flat occiput, Anteverted nares, Protruding tongue, Microcephaly, Cryptorchidism, Brachycephaly, D... |
ORPHA:96147 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Downturned corners of mouth, High palate, Dandy-Walker malformation, Long philtrum... |
OMIM:605627 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Agen... |
OMIM:618779 |
| Cerebellofaciodental Syndrome |
|
Microcephaly, Cryptorchidism, Dental malocclusion, Macrodontia of permanent maxillary central inc... |
OMIM:616202 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum |
ORPHA:1389 |
| Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
| Anauxetic Dysplasia 2 |
|
Hypodontia, Macroglossia, Midface retrusion, Relative macrocephaly |
OMIM:617396 |
| White-Kernohan Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... |
OMIM:619426 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Prominent nasal bridge, Cleft upper lip, Micrognathia, Trismus, Velopharyn... |
OMIM:154400 |
| Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Midface retrusion |
OMIM:614113 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Retinal dystrophy, Optic nerve hypoplasia, Cleft palate, Coloboma |
OMIM:610125 |
| Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Protruding tongue, Optic atrophy, Gingival overgrowth, Colp... |
OMIM:620352 |
| Meckel Syndrome |
|
Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognathia, Pancreatic cy... |
ORPHA:564 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp... |
ORPHA:255138 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynosto... |
OMIM:213980 |
| Van Den Ende-Gupta Syndrome |
|
Dental crowding, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypoplasia of the maxill... |
OMIM:600920 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cere... |
ORPHA:1947 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... |
ORPHA:101030 |
| Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
| Ramos-Arroyo Syndrome |
|
Frontal bossing, Abnormal midface morphology, Aganglionic megacolon, Anteverted nares, Depressed ... |
ORPHA:1051 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Depressed nasal ridge, Gonadotropin deficiency, Holoprosencephaly, Bifid uvul... |
ORPHA:672 |
| Mosaic Trisomy 1 |
|
Microretrognathia, Frontal bossing, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal... |
ORPHA:1692 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Submucous cleft hard palat... |
OMIM:613805 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hypoplasi... |
OMIM:620114 |
| Chromosome Xq13 Duplication Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Midface retrusion |
OMIM:301069 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Cleft upper lip, Microcephaly, Hydrocephalus, Partial absence of... |
OMIM:613150 |
| Short Stature-Micrognathia Syndrome |
|
Micrognathia, Microcephaly, Cryptorchidism, Scaphocephaly, Cleft palate, High palate, Retrognathia |
OMIM:617164 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Microcephaly, Optic atrophy, High palate, Broad alveolar ridges, Agenesis of corpus callosum |
OMIM:300004 |
| Oculomaxillofacial Dysostosis |
|
Median cleft lip, Micrognathia, Abnormality of the dentition, Abnormality of the nose, Underdevel... |
ORPHA:1794 |
| Braddock-Carey Syndrome 1 |
|
Microcephaly, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Thick vermilion border... |
OMIM:619980 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Brachycephaly, Cleft... |
ORPHA:85276 |
| Stankiewicz-Isidor Syndrome |
|
Prominent nose, Micrognathia, Cryptorchidism, Pineal cyst, Retrognathia |
OMIM:617516 |
| Galloway-Mowat Syndrome 1 |
|
Ventriculomegaly, Flat occiput, Narrow nasal ridge, Hiatus hernia, Micrognathia, Prominent nose, ... |
OMIM:251300 |
| Saethre-Chotzen Syndrome |
|
Parietal foramina, Hypoplasia of the maxilla, Long nose, Oxycephaly, Cleft of chin, Brachycephaly... |
OMIM:101400 |
| Spastic Paraplegia 23, Autosomal Recessive |
|
Microcephaly, Retrognathia, Micrognathia |
OMIM:270750 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Hypothyroidism, Bifi... |
OMIM:620186 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Diffuse cerebral atrophy, Microcephaly, Carious teeth, Basal ganglia c... |
OMIM:214150 |
| Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Bul... |
OMIM:603736 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Brach... |
OMIM:157980 |
| Three M Syndrome 3 |
|
Frontal bossing, Anteverted nares, Dolichocephaly, Microcephaly, Thick vermilion border, Long phi... |
OMIM:614205 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Decreased response to growth ho... |
ORPHA:1855 |
| Monosomy 13Q14 |
|
Microcephaly, Micrognathia, Holoprosencephaly, Hypoplasia of the corpus callosum, Retinoblastoma,... |
ORPHA:1587 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Cerebral atrophy, Basal ganglia cysts, Long philtrum, Agenesis of corpus callosum |
OMIM:312170 |
| Rhombencephalosynapsis |
|
Microretrognathia, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu... |
ORPHA:59315 |
| Cdags Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... |
OMIM:603116 |
| Schaaf-Yang Syndrome |
|
Mandibular prognathia, Frontal bossing, Abnormality of the philtrum, Cryptorchidism, Hypogonadism... |
OMIM:615547 |
| Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Brachycephaly, Narrow palate, Too... |
OMIM:277600 |
| Hemifacial Microsomia With Radial Defects |
|
Preauricular pit, Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Pr... |
OMIM:141400 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia |
OMIM:618182 |
| Arachnoid Cyst |
|
Encephalocele, Facial palsy, Posterior fossa cyst at the fourth ventricle, Mild malformation of c... |
ORPHA:2356 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:600649 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume, Abnormal basal ganglia morphology |
OMIM:618646 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Aplasia/... |
OMIM:216360 |
| 2P15P16.1 Microdeletion Syndrome |
|
Ventriculomegaly, Prominent nasal bridge, Supernumerary nipple, Microcephaly, Brachycephaly, Wide... |
ORPHA:261349 |
| W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pachygyria, Agenesis o... |
ORPHA:168486 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| 2Q37 Microdeletion Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Underdeveloped n... |
ORPHA:1001 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Microcephaly, Hypogonadotropic hypogonadism, Broad nasal tip |
OMIM:619420 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Celiac disease, Dilated third ventricle, Bulbous nose, Dysplastic corpus callosum, Bilateral cryp... |
ORPHA:544488 |
| Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Decreased serum leptin, Micrognathia, Underdevel... |
OMIM:614098 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Malar flattening, Midface retrusion |
OMIM:130060 |
| Desmosterolosis |
|
Relative macrocephaly, Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Micrognathia,... |
OMIM:602398 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Micrognathia, Microcephaly, Multinodular goiter, Multiple enchondromatosis, Adenocarcinoma of the... |
OMIM:620189 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Prominent occiput, Wide nose, Retrognathia, High palate |
OMIM:606056 |
| Charge Syndrome |
|
Delayed eruption of teeth, Facial palsy, Cleft upper lip, Abnormal soft palate morphology, Aquedu... |
ORPHA:138 |
| Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Broad nasal tip, Mild fetal ventriculomegaly, Macrocephaly, Retrognathi... |
OMIM:617190 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormality of the denti... |
OMIM:601088 |
| Gabriele-De Vries Syndrome |
|
Abnormality of the dentition, Micrognathia, Broad nasal tip, Cryptorchidism, Thick lower lip verm... |
OMIM:617557 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anteverted nares, Depressed nasal bridge, Broad nasal tip, High palate, Malar flattening, Midface... |
OMIM:300232 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Distal Deletion 9P |
|
Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Trigonocephal... |
ORPHA:1642 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Hypop... |
OMIM:618193 |
| Congenital Myopathy 13 |
|
Micrognathia, Microcephaly, Cryptorchidism, Brachycephaly, Cleft palate, Downturned corners of mo... |
OMIM:255995 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Bulbous n... |
OMIM:609460 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Mandibular prognathia, Short philtrum, Midface retrusion, Microcephaly |
OMIM:617864 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
| Acrofacial Dysostosis, Catania Type |
|
Preauricular pit, Smooth philtrum, Microretrognathia, Abnormality of the dentition, Carious teeth... |
ORPHA:1786 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Prominent nose, Underdeveloped nasal alae, Precocious puberty, Microcephaly, Wide nasal bridge, F... |
ORPHA:2637 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Conical tooth, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Pai Syndrome |
|
Encephalocele, Median cleft lip, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Abnorma... |
ORPHA:1993 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Abnormal cheek morphology, Micrognathia, Prominent nose, ... |
ORPHA:3047 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Cryptorchidism, Retrognathia, High palate |
ORPHA:456328 |
| Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal stenosis, Cleft palat... |
ORPHA:93260 |
| Mend Syndrome |
|
Microretrognathia, Prominent nasal bridge, Micrognathia, Cryptorchidism, Bulbous nose, Hydrocepha... |
OMIM:300960 |
| Hutchinson-Gilford Progeria Syndrome |
|
Malar flattening, Midface retrusion, Micrognathia |
OMIM:176670 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Micrognathia, Dysplastic corpus callosum, Narrow mouth, Neonatal death |
OMIM:618810 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Irregularly spaced teeth, Recurrent sinusitis, Umbilical hernia, Bowel diverticulosis, Narrow max... |
OMIM:130000 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Frontal bossing, Retrognathia, Unilateral cryptorchidism |
OMIM:616489 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Anteverted nares, Craniosynostosis, Abnormality of the dentition, Broad... |
ORPHA:363611 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Microcephaly, Wide nasal bridge, High palate, Short nose, Retrognathia, Hypothyroidism |
OMIM:618005 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Preauricular pit, Thin upper lip vermilion, Microretrognathia, Intestinal malrotation, Craniosyno... |
ORPHA:457193 |
| Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
| Weiss-Kruszka Syndrome |
|
Preauricular pit, Ventriculomegaly, Anteverted nares, Exaggerated cupid's bow, Colpocephaly, Shor... |
OMIM:618619 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Micrognathia, Prominent nose, Long nose, Microcephaly, Wide nasal bridge, Full cheeks,... |
ORPHA:2995 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Cloverleaf skull, Depre... |
OMIM:613610 |
| Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Wide nose, Ventriculomegaly, Depressed nasal bridge, Cryptorc... |
ORPHA:261344 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Ventriculomegaly, Dental crowding, Narrow nasal ridge, Micrognathia, Underdeveloped nasal alae, T... |
OMIM:618343 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Tented upper lip vermilion, Hydrocephalus, Optic atrophy, Cerebellar hypo... |
OMIM:618476 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Gingival overgrowth, Short upper lip, Short philtrum, Secondary microcephaly, Retro... |
OMIM:616875 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Micrognathia, Narro... |
OMIM:245600 |
| Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, High palate, Bifid uvula, Narrow mouth |
ORPHA:169186 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly... |
ORPHA:513456 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Thin upper lip vermilion, Periventricular leukomalacia, Short lingual ... |
OMIM:617360 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma |
ORPHA:649929 |
| 17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Otosclerosis, Decreased response to growth hormone stimulation test, Mi... |
ORPHA:529962 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Retrognathia, Hypergonadotropic hypogonadism, Narrow nose |
OMIM:212112 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Thin vermilion border, Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip,... |
ORPHA:1827 |
| Monosomy 22 |
|
Wide nose, Aplasia of the thymus, Microcephaly, Prominent occiput, Prominent nasolabial fold, Thi... |
ORPHA:96123 |
| 3C Syndrome |
|
Frontal bossing, Ventriculomegaly, Depressed nasal bridge, Intestinal malrotation, Adrenal hypopl... |
ORPHA:7 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Microcephaly, Cryptorchidism, Macrocephaly, Midface retrusion, Ventriculomegaly |
ORPHA:485350 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Microcephaly, Cryptorchidism, Wide mouth, Short philtrum, Retrognathia |
ORPHA:1194 |
| Trisomy 10P |
|
Frontal bossing, Absent gallbladder, Anteverted nares, Depressed nasal bridge, Micrognathia, Abno... |
ORPHA:171929 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic ... |
OMIM:603671 |
| Fg Syndrome 3 |
|
Pyloric stenosis, Agenesis of corpus callosum, Death in infancy |
OMIM:300406 |
| Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum, Tracheoesophageal fistula |
OMIM:619083 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lateral ventricle dilatation, Umbilical hernia, Retrognathia |
OMIM:618914 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, ... |
OMIM:612289 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Median cleft lip, Microcephaly, Orofacial cleft, Holoprosencephaly, Cyclopia, Iris coloboma |
ORPHA:3186 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Aganglionic megacolon, Malabsorption, Microcephaly, Pachygyria, Agenesis of cor... |
ORPHA:452 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Downturned corners of mouth, Agenesis of corpus callosum, Short philtrum |
ORPHA:93267 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:615286 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal bridge, Cl... |
OMIM:618571 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Frontal bossing, Diabetes mellitus, Depressed nasal bridge, Abnormality of th... |
ORPHA:231226 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Cerebellar vermis hypoplasia, Optic atrophy, Polymicrogyria |
OMIM:612379 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
| Atelosteogenesis, Type I |
|
Encephalocele, Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptorchidism, Cleft palat... |
OMIM:108720 |
| D-Bifunctional Protein Deficiency |
|
Frontal bossing, Depressed nasal bridge, Dolichocephaly, Micrognathia, Scaphocephaly, Primary adr... |
OMIM:261515 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ... |
OMIM:616819 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Esophageal atresia, Trac... |
ORPHA:3157 |
| Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Cerebellar hypoplasia, Hypoplasia o... |
OMIM:611961 |
| Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Brachycephaly... |
ORPHA:83 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Microcephaly, Diastema, Partial absence of cerebellar vermis, Downturne... |
ORPHA:329224 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microg... |
ORPHA:435638 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:175700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced ... |
OMIM:300967 |
| Campomelic Dysplasia |
|
Relative macrocephaly, Frontal bossing, Irregular dentition, Depressed nasal bridge, Spina bifida... |
OMIM:114290 |
| 4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border, Short philtrum,... |
ORPHA:238750 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Wide anterior fontanel, Cry... |
OMIM:217980 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... |
ORPHA:86822 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Depressed nasal bridge, Mic... |
OMIM:300990 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Dental crowding, Microcephaly, Hydrocephalus, Submucous cleft lip, Cle... |
ORPHA:96170 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Microcephaly, Hydrocephalus, Esophageal varix, Inflammation of the large intestine, Enamel hypopl... |
OMIM:614576 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Tented upper lip vermilion, Microcephaly, Abnormality... |
ORPHA:487796 |
| Genitopalatocardiac Syndrome |
|
Micrognathia, Microcephaly, Cryptorchidism, Non-midline cleft lip, Hydrocephalus, Wide nasal brid... |
ORPHA:2075 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, Malar flatteni... |
OMIM:268850 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Abnormality of the dentition, Conical tooth, Agenes... |
ORPHA:228390 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
| White-Sutton Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Microcephaly, Brachycephaly, D... |
ORPHA:468678 |
| Zimmermann-Laband Syndrome |
|
Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis, Cleft palate, ... |
ORPHA:3473 |
| Tubulinopathy-Associated Dysgyria |
|
Microcephaly, Abnormal thalamus morphology, Pachygyria, Abnormality of the internal capsule, Agyr... |
ORPHA:467166 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Cleft lip... |
ORPHA:97297 |
| Galloway-Mowat Syndrome 3 |
|
Frontal bossing, Hiatus hernia, Micrognathia, Microcephaly, High palate, Narrow mouth, Midface re... |
OMIM:617729 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Micrognathia, Prominent nose, Partial agenesis of the corpus callosum, Anteriorl... |
OMIM:305450 |
| Trisomy 8Q |
|
Micrognathia, Cryptorchidism, Non-midline cleft lip, Myelomeningocele, Wide nasal bridge, Cleft p... |
ORPHA:1752 |
| Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Frontal bossing, Narrow nasal bridge, Micrognathia, Hypoplasia of the ... |
OMIM:259600 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Wide nose, Tented upper lip vermilion, Anteverted nares, Depressed nasa... |
OMIM:613458 |
| Acrocraniofacial Dysostosis |
|
Preauricular pit, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia... |
ORPHA:949 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Depressed nasal bridge, Midface retrusion |
OMIM:618378 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Dolichocephaly, Hypoplasia of the maxilla, High, narrow palate, Cryptorchi... |
ORPHA:1101 |
| Squalene Synthase Deficiency |
|
Bilateral cryptorchidism, Retrognathia, Depressed nasal bridge, Micrognathia |
OMIM:618156 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Thick lower... |
OMIM:608624 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia, Hamartoma of tongu... |
OMIM:311200 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... |
ORPHA:894 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Pierre-Robin sequ... |
ORPHA:1358 |
| Say Syndrome |
|
Microcephaly, Cleft palate, Micrognathia |
OMIM:181180 |
| Stickler Syndrome |
|
Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Cleft upper lip, Ope... |
ORPHA:828 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Frontal bossing, Occipital encephalocele, Ventriculomegaly, Depressed nasal bridge, Supernumerary... |
ORPHA:397715 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Relative macrocephaly, Umbilical hernia, Midface retrusion |
ORPHA:231144 |
| Jackson-Weiss Syndrome |
|
Malar flattening, Coronal craniosynostosis, Midface retrusion, Craniosynostosis |
OMIM:123150 |
| Marden-Walker Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, High, narrow palate, Pyloric stenosis, Wide anterio... |
OMIM:248700 |
| Branchiootic Syndrome 1 |
|
Preauricular pit, Branchial fistula, Retrognathia |
OMIM:602588 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio... |
OMIM:615873 |
| Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Everted upper lip vermilion, Underdeveloped nasal alae, High,... |
ORPHA:276432 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Abnormality of the thyroid gland, Thick lower lip ver... |
ORPHA:2563 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Anteriorly... |
OMIM:261540 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Intestinal pseudo-obstruction, Microcephaly, Cryptorchidism, Long philtrum, Retrognathia |
ORPHA:73246 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Holoprosencephaly, Bifid ... |
OMIM:270400 |
| Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... |
ORPHA:2756 |
| Bartsocas-Papas Syndrome |
|
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Microcephaly, Cleft palate, Narrow mou... |
ORPHA:1234 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Preauricular pit, Microcephaly, Underdeveloped nasal alae, Cleft palate, Hydranencephaly |
OMIM:601355 |
| Branchio-Oculo-Facial Syndrome |
|
Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, Coloboma, High palate, Eve... |
ORPHA:1297 |
| Atelosteogenesis Type I |
|
Micrognathia, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology, Midface re... |
ORPHA:1190 |
| Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
| Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Thick lower lip vermilion, Primary microcephaly, Agen... |
ORPHA:466688 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Narrow mouth, Brachycephaly, Cleft palate, Hi... |
OMIM:156610 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Hypothyroidism, Anteverted nares, Depressed nasal bridge, Dolichocepha... |
OMIM:619325 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... |
ORPHA:2712 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Short philtrum, High palate, Ch... |
ORPHA:798 |
| Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Micrognathia, Cleft palate, Plagiocephaly, Long... |
ORPHA:56304 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Micrognathia, Long nose, Cleft palate, High palate, Narrow mouth, Retrognathia |
OMIM:301091 |
| Treacher Collins Syndrome 3 |
|
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia |
OMIM:248390 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Microcephaly, Hypodontia, Short nose, Midface retrusion |
ORPHA:544503 |
| Distal Deletion 3P |
|
Preauricular pit, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Brachycephaly, Cl... |
ORPHA:1620 |
| Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Dental malocclusion, Wide m... |
OMIM:612731 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Cariou... |
ORPHA:536467 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Retrognathia, Microcephaly |
OMIM:611719 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Pierre-Robin sequence, Ging... |
OMIM:300868 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Chorioretinal coloboma, Agenesis of co... |
ORPHA:268249 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Pigm... |
OMIM:309801 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Mandibular prognathia, Aganglionic megacolon, Microcephaly, Ileus, Malar flattening, Midface retr... |
OMIM:300352 |
| Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Megalencephaly, Li... |
OMIM:601707 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Microcephaly, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Everted lower ... |
ORPHA:2316 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial ag... |
OMIM:619103 |
| Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Prominent nasal bridge, Abnormality of the dentition, Underdev... |
ORPHA:96169 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Microgna... |
OMIM:608013 |
| Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cryptorchidism, S... |
ORPHA:2554 |
| Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Microcephaly, Hypoplasia... |
OMIM:139210 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Mic... |
OMIM:616268 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Abnormality of the dentition, Microcephaly, Cere... |
OMIM:615802 |
| Opitz Gbbb Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Abnormal nasopharynx morphology, Anteverted nares, Cle... |
OMIM:300000 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Semilobar holoprosencephaly |
OMIM:601370 |
| Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Subependymal cysts, Lateral ventricl... |
OMIM:610015 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Anosmia, High palate, Small pituitary g... |
OMIM:612702 |
| Weaver Syndrome |
|
Mandibular prognathia, Flat occiput, Depressed nasal bridge, Cryptorchidism, Macrocephaly, Hydroc... |
OMIM:277590 |
| Alg12-Cdg |
|
Thin upper lip vermilion, Wide nose, Decreased serum insulin-like growth factor 1, Intestinal mal... |
ORPHA:79324 |
| Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Secondary microcephaly, Long... |
OMIM:617854 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Retrognathia, Supernumerary nipple |
ORPHA:1809 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Focal T2 hyperintense thalamic lesion, Leukoencephalop... |
OMIM:613724 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Tented upper lip vermilion, Brachycephaly, Long philtrum |
OMIM:619972 |
| Neurooculocardiogenitourinary Syndrome |
|
Downturned corners of mouth, Coloboma, Secondary microcephaly, Smooth philtrum |
OMIM:618652 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Periodontitis, Malar flattening |
OMIM:231070 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Dental malocclusion, High ... |
OMIM:601552 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Convex nasal ridge, Decreased serum leptin, Micrognathia, Den... |
OMIM:614008 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Wide nasal bridge, Microcephaly |
ORPHA:79326 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Anal atresia, Abnormal dental morphology, Abnormal dental enamel morphology, Mic... |
ORPHA:85199 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy... |
OMIM:617296 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Adrenal hypoplasia, Dolichocephaly, Micrognathia, Pyloric stenosis, Rectal prolapse, Wide nasal b... |
OMIM:613177 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Microcephaly |
OMIM:616034 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Relative macrocephaly, Frontal bossing, Choanal atresia, Convex nasal ridge, Hashimoto thyroiditi... |
OMIM:613385 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Frontal bossing, Diabetes mellitus, Depressed nasal bridge, Abnormality of th... |
ORPHA:231214 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,... |
ORPHA:251028 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Depressed nasal bridge, Dolichocephaly, Prominent occiput, Long philtrum, ... |
OMIM:617895 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Anal atresia, Microcephaly |
OMIM:619318 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Acces Syndrome |
|
Retrognathia, Tracheoesophageal fistula, Supernumerary nipple |
OMIM:619959 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Microcephaly, Wide nasal bridge, Full cheeks, Lat... |
OMIM:300896 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Midface retrusion, Microcephaly |
OMIM:615119 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Microc... |
OMIM:619148 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616239 |
| 7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Craniosynostosis, Micrognathia, Diastema, Broad... |
ORPHA:96121 |
| Diabetic Embryopathy |
|
Frontal bossing, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Cleft palate, Spinal ... |
ORPHA:1926 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Open mouth |
OMIM:616789 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida, Micrognathia, Microcephaly, Depressed nasal ridge, Cleft palate, High palate, Ventr... |
OMIM:616038 |
| Al-Gazali-Bakalinova Syndrome |
|
Triangular mouth, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:607131 |
| Omodysplasia 2 |
|
Frontal bossing, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Microgn... |
OMIM:164745 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Communicating hydrocephalus, Anterior pituitary hypoplasia, Micrognathia, ... |
OMIM:619841 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... |
ORPHA:95699 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Precocious puberty, Delayed eruption of permanent teeth, Periodontitis, T... |
OMIM:619269 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Retrognathia, High palate, Microcephaly |
OMIM:620237 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Microcephaly, Deep philtrum,... |
ORPHA:1675 |
| Stuve-Wiedemann Syndrome 1 |
|
Frontal bossing, Pursed lips, Anteverted nares, Micrognathia, Carious teeth, Full cheeks, Thin ve... |
OMIM:601559 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Gingival overgrowth, Progressive microcephaly, Short philtrum, Retrognathia, Anal a... |
ORPHA:480898 |
| Achondroplasia |
|
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Choanal stenosis, Macrocephaly, Malar fla... |
OMIM:100800 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anteverted nares, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal bridge, Wide mout... |
OMIM:611717 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Cerebral atrophy, Abnormal cerebral white matter morphology, Pigmentary retino... |
ORPHA:79264 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Micrognathia, Microcephaly, Retinal degeneration, Hydrocephalus, Optic atrophy, ... |
OMIM:253280 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Concave nasal ridge, Hypodontia, Microdontia, Malar flattening, Midface retrusion |
OMIM:602482 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... |
OMIM:613803 |
| Holoprosencephaly 1 |
|
Diabetes insipidus, Proboscis, Adrenal hypoplasia, Alobar holoprosencephaly, Microcephaly, Aplasi... |
OMIM:236100 |
| Radio-Renal Syndrome |
|
Depressed nasal bridge, Micrognathia, High, narrow palate, Downturned corners of mouth, Retrognat... |
ORPHA:3015 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bilateral cryptorchidism, Retrognathia, High palate, Unilateral cryptorchidism |
OMIM:300219 |
| Bor Syndrome |
|
Branchial cyst, Preauricular skin tag, Retrognathia, Cleft palate |
ORPHA:107 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Micrognathia, Prominent nose, Precocious puberty, C... |
ORPHA:96191 |
| 46,Xy Sex Reversal 4 |
|
Anteverted nares, Hypergonadotropic hypogonadism, Micrognathia, Prominent nose, Depressed nasal r... |
OMIM:154230 |
| Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Microcephaly, Cryptorchidism, Hydrocephalus, Malrotatio... |
ORPHA:264450 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Prominent nasal bridge, Microcephaly, Long nose, Pierre-Robin sequence, Cleft pa... |
OMIM:619184 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Coronal cranios... |
ORPHA:313855 |
| Distal Triplication 15Q |
|
Craniosynostosis, Micrognathia, Hydrocephalus, Hydrocele testis, High palate, Retrognathia, Dandy... |
ORPHA:314588 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla, Umbilical hernia, Short philtrum, Cleft palate |
ORPHA:96129 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Frontal bossing, Obtuse angle of mandible, Aplasia of the nasal bone, Ante... |
ORPHA:93357 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Myasthenic Syndrome, Congenital, 19 |
|
Retrognathia, High palate, Micrognathia |
OMIM:616720 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Protruding tongue, Micrognathia, Primary microcephaly, Progressive microcephaly, Thick... |
OMIM:608779 |
| Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Microcephaly, Midface retrusion, Ventricul... |
OMIM:617784 |
| Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, W... |
ORPHA:920 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Anteverted nares, Broad nasal tip, Hypoplasia of the maxi... |
OMIM:617402 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Microcephaly, Esophag... |
OMIM:206900 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... |
OMIM:604292 |
| Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Ventriculomegaly, Tented upper lip vermilion, Micrognathia, Microcephaly, Colpoc... |
OMIM:618460 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Broad nasal tip, Hypoplasia of the maxilla, Depressed nasal ridge, Nasal congestion, Hypoplasia o... |
ORPHA:79345 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Anteverted nares, Microcephaly, Cleft lip, High palate, Long philtrum, Umbilic... |
OMIM:251290 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Craniosynostosis, Micrognathia, Narrow mouth, Wide nasal bridge, Cleft palate, Macrocephaly, Midf... |
OMIM:130070 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Microcephaly, Deep philtrum, Optic disc coloboma, Cleft palate, Downturned corners ... |
ORPHA:251014 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Decreased response to growth hormone stimulation test, H... |
OMIM:180500 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Wide nose, Ventriculomegaly, Anteverted nares, Microcephaly, Rectal prolap... |
OMIM:303600 |
| Stickler Syndrome, Type Vi |
|
Depressed nasal bridge, Midface retrusion |
OMIM:620022 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Facial palsy, Spina bifida, M... |
ORPHA:508498 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Brachycephaly, High palate, Anteverted nares, Depr... |
OMIM:614976 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... |
OMIM:615745 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor |
OMIM:602418 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Cleft palate, Umbilica... |
OMIM:130720 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... |
OMIM:619950 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Dental crowding, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Micr... |
OMIM:617157 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Microcephaly, Primary microcephaly,... |
ORPHA:457351 |
| Maternal Phenylketonuria |
|
Anteverted nares, Micrognathia, Microcephaly, Esophageal atresia, Wide nasal bridge, High palate,... |
ORPHA:2209 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
| Osteogenesis Imperfecta, Type X |
|
Relative macrocephaly, Micrognathia, Pyloric stenosis, Decreased calvarial ossification, Midface ... |
OMIM:613848 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Intestinal pseudo-obstruction, Optic n... |
ORPHA:453504 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Large basal ganglia, Short philtrum, A... |
ORPHA:261552 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Intestinal pseudo-obstruction, Optic n... |
ORPHA:352665 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Frontal bossing, Microcephaly, Bulbous nose, Full cheeks, Wide mouth, High palate, Retrognathia |
OMIM:619934 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic atrop... |
ORPHA:254930 |
| Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Brachycephaly, Narrow palate, Hig... |
OMIM:608328 |
| 9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Abnormality of cartilage of external ear, Precocious puberty... |
ORPHA:324313 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ridge, Cl... |
OMIM:607597 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic cardiomyop... |
ORPHA:156 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Frontal bossing, Ventriculomegaly, Decreased response to growth hormone stimulation test, Microce... |
OMIM:617260 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Large placenta, Macroglossia, ... |
ORPHA:254528 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Thin vermilion border, High... |
OMIM:619869 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Depressed nasal bridge, Wide anterior fontanel, Hydrocephalus, Macrocephaly, Mid... |
OMIM:616482 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Frontal bossing, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent na... |
OMIM:610759 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Microcephaly, Bulbous nose, Scaphoce... |
ORPHA:261323 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Frontal bossing, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus |
ORPHA:2476 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, Esophageal atresia, Spina bi... |
OMIM:301030 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Thick lower lip ver... |
OMIM:620075 |
| Congenital Myopathy 22B, Severe Fetal |
|
Frontal bossing, Tented upper lip vermilion, Dental crowding, Micrognathia, Wide nasal bridge, Sh... |
OMIM:620369 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Anteverted nares, Abnormality of the dentition... |
ORPHA:847 |
| Ritscher-Schinzel Syndrome 4 |
|
Narrow palate, Wide mouth, High palate, Thick vermilion border, Short philtrum, Cerebellar hypopl... |
OMIM:619435 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume |
OMIM:613668 |
| Mullegama-Klein-Martinez Syndrome |
|
Preauricular pit, Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia... |
OMIM:301022 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Midface retrusion |
OMIM:609508 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
| Loeys-Dietz Syndrome 4 |
|
Eosinophilic infiltration of the esophagus, High, narrow palate, High palate, Dolichocephaly, Bro... |
OMIM:614816 |
| Pfeiffer Syndrome Type 2 |
|
Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal ste... |
ORPHA:93259 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Tented upper lip vermilion, Flat occiput, Anteverted nares, Prominent nose, High, narrow palate, ... |
OMIM:618076 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Midface retrusion |
OMIM:618618 |
| Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Microcephaly, Bulbous nose, Brachycephaly, Plagiocephaly, Downturned corners of ... |
OMIM:618268 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Frontal bossing, Depressed nasal bridge, Micrognathia, Enlarged naris, Wide anterior fontanel, De... |
OMIM:271665 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Supernumerary nipple, Broad nasal tip, Prominent crus of helix, Cryptor... |
OMIM:619194 |
| Steel Syndrome |
|
Wide nasal bridge, Anteverted nares, Midface retrusion |
OMIM:615155 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Open mouth, Lateral ventricle dilatation |
OMIM:616816 |
| Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Micrognathia, Microcephaly, Cryptorchidism, Anterior hyp... |
OMIM:607932 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Microcephaly, Macroglossia, Everted lower lip vermilion, Agenesis of ... |
ORPHA:261144 |
| Cach Syndrome |
|
Microcephaly, T2 hypointense thalamus, Optic atrophy, Cerebral atrophy, Lateral ventricle dilatat... |
ORPHA:135 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
| Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Microcephaly, Cleft palate, Narro... |
OMIM:251230 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Basal ganglia calcification, Cerebral calcification, Thalamic calcification |
OMIM:615483 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Non-... |
ORPHA:2059 |
| Toriello-Carey Syndrome |
|
Ventriculomegaly, Aganglionic megacolon, Micrognathia, Microcephaly, Wide anterior fontanel, Part... |
ORPHA:3338 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Anteverted nares, Wide nasal bridge, Lateral ventricle dilatati... |
OMIM:608629 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased nerve conduction veloci... |
ORPHA:485421 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Hypoplastic sweat glands, Cleft palate, Concave nasal ridge, Short philtrum |
OMIM:617337 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Dental malocclusion, Wide nasal bridge, Localized hypoplasia of dental enamel, Hypo... |
ORPHA:73223 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Ventriculomegaly, Broad nasal t... |
OMIM:614749 |
| 1Q21.1 Microdeletion Syndrome |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, High palate, Long philtrum, Ankylogloss... |
ORPHA:250989 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachycephaly, Downturned corners of mouth, ... |
OMIM:259050 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Mogs-Cdg |
|
Wide nose, Prominent occiput, Hydrocele testis, High palate, Inappropriate antidiuretic hormone s... |
ORPHA:79330 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Pore... |
OMIM:277170 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:616258 |
| Greenberg Dysplasia |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large placenta, Costal cartilage... |
OMIM:215140 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... |
OMIM:608670 |
| Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus ... |
OMIM:609053 |
| Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti... |
OMIM:619004 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Anteverted nares, Aganglionic megacolon, Prominent nasal bridge, Micrognathi... |
ORPHA:2604 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, Microcephaly... |
OMIM:618050 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Cryptor... |
ORPHA:289 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Dental crowding, Anteverted nares, Prominent nasal bridge, High, narrow pa... |
OMIM:309583 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon, High palate, Ocular albinism |
ORPHA:2720 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Short philtrum, High ... |
OMIM:613406 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Wide anterior fontanel, Cryptorchidism, Cleft palate, Colpocephaly, High palate, Hy... |
OMIM:614866 |
| Chromosome 5P13 Duplication Syndrome |
|
Downturned corners of mouth, High palate, Agenesis of corpus callosum, Short philtrum |
OMIM:613174 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Prominent nasal bridge, Prominent nose, Precocious puberty, Microcephaly, Type II diabetes mellit... |
OMIM:210720 |
| Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walker malformation |
OMIM:147800 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Microcephaly, Hypogonadism, Triangular mouth, Retrognathia... |
OMIM:601675 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia, Aprosencephaly, Bifid uvula, Micrognathia |
OMIM:601374 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Microcephaly, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodont... |
ORPHA:453499 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Cleft palate, Small pituitary gland, Decreased testicular size |
OMIM:614880 |
| Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c... |
OMIM:613001 |
| Alg11-Cdg |
|
Microcephaly, Retrognathia, Long philtrum |
ORPHA:280071 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Frontal bossing, Relative macrocephaly, Choanal atresia, Anterior pituitar... |
OMIM:151050 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Narrow nose, Cleft upper lip, Ca... |
OMIM:164200 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Craniosyn... |
ORPHA:2136 |
| Crane-Heise Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Cleft palate, Ventriculom... |
ORPHA:1512 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Micrognathia, Hiatus hernia, Esophagitis, Retrognathia |
ORPHA:1901 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Recurrent upper respiratory tract infections, Gingival overgrowth, Tri... |
ORPHA:508542 |
| Immunodeficiency 49 |
|
Natal tooth, Eosinophilia, Reduced cerebral white matter volume, Short philtrum, Agenesis of corp... |
OMIM:617237 |
| Schisis Association |
|
Encephalocele, Spina bifida, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:63862 |
| Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Microcephaly, Hydrocephalus, O... |
ORPHA:2322 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micrognathia |
OMIM:243440 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification |
OMIM:618824 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Abnormal midface morphology, Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, ... |
ORPHA:2250 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Relative macrocephaly, Frontal bossing, Choanal atresia, Thyroiditis, Prominent occiput, Abnormal... |
ORPHA:228426 |
| Larsen Syndrome |
|
Frontal bossing, Depressed nasal bridge, Cleft upper lip, Cryptorchidism, Cleft palate, Hypodonti... |
OMIM:150250 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Gingival o... |
OMIM:619179 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Frontal bossing, Hypoplasia of the nasal bone |
OMIM:118650 |
| 6Q Terminal Deletion Syndrome |
|
Micrognathia, High, narrow palate, Macrocephaly, Plagiocephaly, Colpocephaly, Thick vermilion bor... |
ORPHA:75857 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Microcephaly, Deep... |
ORPHA:647 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Prominent nose, Pierre-R... |
OMIM:268305 |
| Stickler Syndrome, Type V |
|
Pierre-Robin sequence, Midface retrusion |
OMIM:614284 |
| Cherubism |
|
Jaw swelling, Optic neuropathy, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Nar... |
OMIM:118400 |
| Noonan Syndrome 2 |
|
Relative macrocephaly, Micrognathia, Cryptorchidism, High palate, Midface retrusion |
OMIM:605275 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Microcephaly, Narrow mouth, Optic atrophy, Macroglossia, High palate, Hypoplasia of the corpus ca... |
OMIM:613457 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nose, Abnormal dental enamel morphology, Abnormal testis morphology, Micrognathia, Microceph... |
ORPHA:2556 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Tongue fasciculations, Microcephaly |
OMIM:607596 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Par... |
OMIM:214800 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Hypothyroidism, Bifid uvula, ... |
OMIM:607872 |
| Meier-Gorlin Syndrome 1 |
|
Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Cleft pal... |
OMIM:224690 |
| Mosaic Trisomy 8 |
|
Frontal bossing, Wide nose, Anteverted nares, Micrognathia, Broad nasal tip, Cryptorchidism, Clef... |
ORPHA:96061 |
| Distal Duplication 17Q |
|
Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Microcephaly, Cr... |
ORPHA:3379 |
| Birk-Landau-Perez Syndrome |
|
Pachygyria, Optic atrophy, Agenesis of corpus callosum, Microcephaly |
OMIM:617595 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Narrow ... |
OMIM:613735 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
ORPHA:94089 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
| Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate,... |
ORPHA:989 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal... |
ORPHA:1780 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Intellectual Disability-Strabismus Syndrome |
|
Abnormality of the dentition, Microcephaly, Wide mouth, High palate, Thick vermilion border, Hypo... |
ORPHA:363528 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Malabsorption, Micrognathia, Brachy... |
ORPHA:1225 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Malar flattening, Prominent nasal bridge, Aqueductal stenosis |
ORPHA:1788 |
| Noonan Syndrome 14 |
|
Prominent nasal bridge, High, narrow palate, Cryptorchidism, Wide mouth, Prominent nasolabial fol... |
OMIM:619745 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the brain... |
OMIM:606812 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Leukoencephalopathy, Cleft palate, Hypoplasia of the corpus callosum,... |
OMIM:614924 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Cryptorchidism, Supernumerar... |
ORPHA:353281 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Basal ganglia calcification, Thalamic calcification |
OMIM:618317 |
| Vacterl With Hydrocephalus |
|
Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Cryptorchidis... |
ORPHA:3412 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... |
OMIM:611134 |
| Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Schizencephaly, Macular atrophy, Cerebellar vermis... |
OMIM:242840 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Lateral ventricle dilatation, Agenesis of corpus callosum, Delayed er... |
OMIM:300952 |
| Boomerang Dysplasia |
|
Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:112310 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Wide nose, Cryptorchidism, Recurrent upper respiratory tract infections... |
OMIM:607143 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Thin upper lip vermilion, Microcephaly, Short philtrum, Agenesis of corpus callosum, Smooth philtrum |
OMIM:612337 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Depressed nasal bridge, Micrognathia, Myelomeningocele, Pierre-Robin sequence, Hyd... |
ORPHA:90652 |
| Multiple Synostoses Syndrome 1 |
|
Thin upper lip vermilion, Asymmetry of the mouth, Underdeveloped nasal alae, Wide nasal bridge, H... |
OMIM:186500 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Intestinal malrotation, Micr... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Abnormal lateral ventricle morphology, Dental crowding, Intestinal malrotation, Micr... |
ORPHA:353277 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ... |
OMIM:618021 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, Choanal atresia, High, narrow palate, H... |
ORPHA:2658 |
| Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t... |
ORPHA:2524 |
| Postaxial Acrofacial Dysostosis |
|
Choanal atresia, Supernumerary nipple, Cleft upper lip, Conical tooth, Pyloric stenosis, Midgut m... |
OMIM:263750 |
| Optic Atrophy 11 |
|
Macrocephaly, Midface retrusion, Ventriculomegaly, Microcephaly |
OMIM:617302 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Abnormality of dental color, Hemimegalencephaly |
OMIM:163200 |
| Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... |
OMIM:612292 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Broad nasal tip, Spina bifida occulta, Depressed nasal tip, Wide nasal base, Retrognathia, Broad ... |
ORPHA:488434 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Supernumerary nipple, Conical tooth... |
ORPHA:1071 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Cryptorchidism, Deep phi... |
OMIM:613563 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cavum septum pellucidum, Coloboma, Micrognathia |
OMIM:617306 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Wide nasal bridge, Wide mout... |
OMIM:201180 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... |
ORPHA:96334 |
| Autosomal Dominant Keratitis |
|
Aniridia, Coloboma, Hypoplasia of the fovea, Macular hypoplasia |
ORPHA:2334 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Biliary hyperplasia, Cryptorchidism, M... |
ORPHA:83617 |
| Al-Gazali Syndrome |
|
Midface retrusion, Micrognathia |
OMIM:609465 |
| Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Cloverleaf skull, Hydrocephalus, Macrocephaly, Midface retrusion |
OMIM:187600 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Partial agenesis of the corpus callosum, Brachycephaly, Short philtrum, High palat... |
OMIM:135900 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... |
ORPHA:457284 |
| Chand Syndrome |
|
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
| Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Abnormality of the dentition, Microgna... |
ORPHA:261112 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Malar flattening, Midface retrusion, Spinal dysraphism |
OMIM:603546 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... |
ORPHA:228308 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Frontal bossing, Microretrognathia, Anteverted nares, Depressed nasal bridg... |
ORPHA:276413 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Calvarial skull... |
OMIM:181270 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Optic disc hypoplasia, Secondary microcephaly,... |
OMIM:619306 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Frontal bossing, Short lingual frenulum, Depressed nasal bridge, Wide nasal bridge, Lateral ventr... |
OMIM:619479 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Delayed eruption of primary teeth, Microcephaly, Widely spaced teeth, Midface re... |
OMIM:617799 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:617668 |
| Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Midface retrusion |
ORPHA:93296 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Frontal bossing, Odontogenic keratocysts of the jaw, Ovarian fibroma, Spin... |
OMIM:109400 |
| Vexas Syndrome |
|
Nasal chondritis, Chondritis of pinna |
OMIM:301054 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Esophageal stenosis, Diabetes mellitus, Abnormality of the dentition, C... |
ORPHA:1775 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Relative macrocephaly, Frontal bossing, Progressive ventriculomegaly, Ventriculomegaly, Depressed... |
ORPHA:500150 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, High, narrow palate, Hydrocephalus, Lateral ventricle dilatation, Short p... |
OMIM:619575 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micrognathia, Prominent nose, Long nose, Bulbous nose, Submucous cleft hard palate, Cryptorchidis... |
ORPHA:2636 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Agenesis of corpus callosum, Dandy-Walker malformati... |
ORPHA:2750 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Pyloric st... |
ORPHA:268261 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Midface retrusion |
ORPHA:435804 |
| Kabuki Syndrome 1 |
|
Preauricular pit, Anal stenosis, Intestinal malrotation, Premature thelarche, Abnormality of the ... |
OMIM:147920 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Midface retrusion, Ventriculomegaly |
OMIM:618707 |
| Marden-Walker Syndrome |
|
Micrognathia, Microcephaly, Pyloric stenosis, Hydrocephalus, Submucous cleft hard palate, Cleft p... |
ORPHA:2461 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Selective tooth agenesis, Micrognathia, Microcephaly, Dental malocclusion, Hypodontia, Abnormal t... |
ORPHA:2959 |
| Hermansky-Pudlak Syndrome 10 |
|
Retrognathia, Smooth philtrum, Microcephaly |
OMIM:617050 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:77299 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ... |
ORPHA:357058 |
| Alexander Disease |
|
Cerebral calcification, Facial palsy, Megalencephaly, Aqueductal stenosis, Hydrocephalus, High pa... |
ORPHA:58 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Thick lower lip vermili... |
ORPHA:2785 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Natal tooth, Absent gallbladder, Depressed nasal bridge, Hamartoma of tongue, Es... |
OMIM:617925 |
| Branchiootic Syndrome |
|
Preauricular pit, Branchial fistula, Lip pit, Micrognathia, Cleft palate, Preauricular skin tag |
ORPHA:52429 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Partial agenesis of the corpus callosum, Thin vermilion border, Hypoplasia of the corpus callosum... |
OMIM:618109 |
| Cree Mental Retardation Syndrome |
|
Coloboma, Cleft soft palate, Micrognathia |
OMIM:606851 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Choanal atresia, Lip pit, Micrognathia, Cryptorchidism, Non-midline cle... |
ORPHA:1300 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Dilated fourth ventricle, Hamartoma of tongue, Accessory oral frenulum, Dilate... |
ORPHA:434179 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal basal ganglia morph... |
ORPHA:157 |
| Diamond-Blackfan Anemia 1 |
|
Cleft upper lip, Parietal foramina, Micrognathia, Microcephaly, Spina bifida occulta, Depressed n... |
OMIM:105650 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ... |
OMIM:620073 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thin upper lip vermilion, Wide nasal bridge, Lateral ventricle dilatati... |
ORPHA:572798 |
| Trichothiodystrophy |
|
Craniosynostosis, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narrow palate,... |
ORPHA:33364 |
| Renal Hypodysplasia/Aplasia 1 |
|
Retrognathia |
OMIM:191830 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Underdeveloped nasal ala... |
OMIM:263650 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
ORPHA:79444 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Preauricular pit, Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge |
OMIM:615560 |
| Otopalatodigital Syndrome, Type Ii |
|
Frontal bossing, Depressed nasal bridge, Spina bifida, Micrognathia, Wide anterior fontanel, Hydr... |
OMIM:304120 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, Splenopancreatic fusio... |
OMIM:269150 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Wide nose, Prominent nasal bridge, Micrognathia, Promin... |
OMIM:606170 |
| Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Micrognathia, Cryptorchidism, Abn... |
OMIM:614527 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormality of the anterior pituitary, Posterior pituit... |
ORPHA:75389 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Phakomatosis Pigmentokeratotica |
|
Coloboma, Pheochromocytoma, Spina bifida |
ORPHA:2874 |
| Neurofibromatosis-Noonan Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Prominent nasolabial fold, Thick vermilion border, Macroc... |
OMIM:601321 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Intracerebral periventricular calcifications, Microcephaly, Narrow palate, Basa... |
OMIM:608836 |
| Bloom Syndrome |
|
Prominent nose, Microcephaly, Cryptorchidism, Recurrent upper respiratory tract infections, Agene... |
OMIM:210900 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Midface retrusion |
ORPHA:83629 |
| Isotretinoin-Like Syndrome |
|
Anteverted nares, Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Preauricular skin tag |
ORPHA:2306 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Short philtrum, Midface retrusion |
OMIM:618451 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Microcephaly, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Sol... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Microcephaly, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Sol... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Microcephaly, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Sol... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Microcephaly, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Sol... |
ORPHA:93924 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood |
OMIM:619423 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Midface retrusion |
OMIM:612581 |
| Spondyloperipheral Dysplasia |
|
Malar flattening, Depressed nasal bridge, Midface retrusion |
OMIM:271700 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Adrenocortical cytomegaly, Abnormal midface morphology, Wide... |
ORPHA:116 |
| Bloom Syndrome |
|
Diabetes mellitus, Stomach cancer, Micrognathia, Esophageal neoplasm, Decreased head circumferenc... |
ORPHA:125 |
| Mosaic Trisomy 20 |
|
Micrognathia, Cleft lip, Cryptorchidism, Cleft palate, Craniofacial asymmetry, Retrognathia |
ORPHA:1724 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, Thin corpus callosum, Hypothalamic hamartoma |
OMIM:619908 |
| Cleft Lip And Alveolus |
|
Abnormal nasal morphology, Abnormal nasal septum morphology, Hypodontia, Lip pit |
ORPHA:141291 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Plagiocephaly, Hypodontia, Narrow mou... |
ORPHA:1973 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upp... |
OMIM:249000 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Pyl... |
ORPHA:261494 |
| Wolf-Hirschhorn Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the cerebellum, Cleft upper lip, Microcephaly,... |
ORPHA:280 |
| Knobloch Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Pyloric stenosis, Hydrocephalus, Midface retrusi... |
ORPHA:1571 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Malar flattening, Midface retrusion, Long philtrum |
OMIM:171480 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation, Microcephaly |
ORPHA:208447 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Abnormality o... |
ORPHA:477993 |
| Branchiooculofacial Syndrome |
|
Micrognathia, Postauricular pit, Ectopic thymus tissue, Preauricular pit, Depressed nasal bridge,... |
OMIM:113620 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Microcephaly |
OMIM:618890 |
| Bone Marrow Failure Syndrome 4 |
|
Midface retrusion, Microcephaly |
OMIM:618116 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Aplasia/Hypoplasia of the cerebellar vermis, Microcephaly, Cleft lip, Tracheoesophag... |
ORPHA:2745 |
| Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... |
ORPHA:506 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... |
ORPHA:79443 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
| Noonan Syndrome |
|
Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Thick lower lip vermilion, High pala... |
ORPHA:648 |
| Baller-Gerold Syndrome |
|
Micrognathia, Brachycephaly, Anteriorly placed anus, High palate, Choanal stenosis, Spina bifida ... |
OMIM:218600 |
| Jacobsen Syndrome |
|
Death in infancy, Intestinal malrotation, Spina bifida, Pyloric stenosis, Cerebral atrophy, Abnor... |
ORPHA:2308 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Micrognathia, Carious teeth, ... |
OMIM:150230 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Accessory oral frenulum, Hamartoma of tongue, Hydrocephalus, Anence... |
OMIM:616546 |
| Neuroferritinopathy |
|
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... |
ORPHA:157846 |
| Roberts-Sc Phocomelia Syndrome |
|
Craniosynostosis, Cleft upper lip, Micrognathia, Underdeveloped nasal alae, Hydrocephalus, Fronta... |
OMIM:268300 |
| Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Bulbous nose, Midface retrusion, Progressive mi... |
OMIM:613454 |
| Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Craniosynostosis, Micrognathia, Hydrocephalus, Cleft ... |
OMIM:609192 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Preauricular pit, Depressed nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Deep philtru... |
ORPHA:163956 |
| Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Intestinal malrotation, Aqueductal stenosis, Hypoplasia of the pons... |
OMIM:620305 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Retinal vascular malformation, Cerebellar hy... |
ORPHA:42775 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Microcephaly, Cleft p... |
OMIM:309500 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Frontal bossing, Turricephaly, Recurrent sinusitis, Hypothyroidism, Midface retrusion, Narrow nose |
OMIM:607944 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Frontal bossing, Midface retrusion, Macrocephaly |
ORPHA:529965 |
| Posterior Urethral Valve |
|
Abnormal nasal morphology, Retrognathia |
ORPHA:93110 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In... |
ORPHA:2729 |
| Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Micrognathia, Cleft palate, Midline notch of upper alveolar ridge, Aplasia/H... |
ORPHA:2754 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Keutel Syndrome |
|
Calcification of the auricular cartilage, Depressed nasal bridge, Cartilaginous ossification of n... |
OMIM:245150 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Thin upper lip vermilion, Premature pubarche, Hypogonadotropic hypogonadism,... |
ORPHA:398079 |
| Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Cleft palate |
ORPHA:137675 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Depressed nasal bridge, Midface retrusion, Macrocephaly |
OMIM:151210 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
| Floating-Harbor Syndrome |
|
Narrow nasal bridge, Persistence of primary teeth, Celiac disease, Carious teeth, Hypoplasia of t... |
ORPHA:2044 |
| Slc35A2-Cdg |
|
Craniosynostosis, Microcephaly, Precocious puberty, Elevated circulating thyroid-stimulating horm... |
ORPHA:356961 |
| Pilarowski-Bjornsson Syndrome |
|
Frontal bossing, Midface retrusion, Macrocephaly |
OMIM:617682 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Abnor... |
OMIM:154500 |
| Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Microcephaly, Thick lower lip vermilion, C... |
OMIM:614609 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Cerebral calcification, Spina bifida, Micrognathia, Microcephaly, Myelomeningoc... |
ORPHA:1393 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Agenesi... |
OMIM:613091 |
| Sotos Syndrome |
|
High, narrow palate, Partial agenesis of the corpus callosum, Narrow palate, High palate, Advance... |
OMIM:117550 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Agenesis of corpus callosum, ... |
ORPHA:2396 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Open mouth, Short philtrum, Midface retrusion |
OMIM:301039 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma |
OMIM:610256 |
| Melas |
|
Peripheral axonal neuropathy, Intestinal pseudo-obstruction, Aplasia/Hypoplasia of the cerebral w... |
ORPHA:550 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Cleft palate, High palate, Long philtrum, Malar flattening, Long upper lip, Midface... |
OMIM:271640 |
| Fryns Syndrome |
|
Dandy-Walker malformation, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotat... |
OMIM:229850 |
| Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal thala... |
ORPHA:83597 |
| Fraser Syndrome 1 |
|
Cleft ala nasi, Dental crowding, Abnormal thymus morphology, Choanal stenosis, Abnormality of the... |
OMIM:219000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Short philtru... |
ORPHA:3455 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... |
OMIM:616051 |
| Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Malar flattening, Retrognathia, Spina bifida occulta |
OMIM:611929 |
| Degcags Syndrome |
|
Micrognathia, Prominent nose, High palate, Agenesis of corpus callosum, Anteverted nares, Hiatus ... |
OMIM:619488 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Brachycephaly, Anteriorly placed anus, Choanal stenosis, De... |
OMIM:201750 |
| Neuroocular Syndrome |
|
Microcephaly, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely space... |
OMIM:619539 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Intestinal malrotation, Cleft upper lip, Hiatus hernia, Microcephaly, ... |
OMIM:305600 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Prominent nose, Micrognathia, Cryptorchidism, Partial agenesis of the corpus ca... |
OMIM:210710 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Macrocephaly |
OMIM:256850 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Microcephaly, Hydrocephalus, Tracheoesophageal fistula, Rec... |
OMIM:107480 |
| Amme Complex |
|
Thin upper lip vermilion, Umbilical hernia, Depressed nasal bridge, Midface retrusion |
OMIM:300194 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Optic nerve hypoplasia, Chorioretinal atrophy, Thalamic edema, Primar... |
ORPHA:2177 |
| Catel-Manzke Syndrome |
|
Cleft upper lip, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Cleft palate, Full cheeks, ... |
OMIM:616145 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Thin upper lip vermilion, Diabetes mellitus, Pancreatic fibrosis, Delayed puberty, Brachycephaly,... |
OMIM:616263 |
| Phocomelia, Schinzel Type |
|
Micrognathia, High, narrow palate, Cryptorchidism, Meningocele, Tracheoesophageal fistula, Cleft ... |
ORPHA:2879 |
| Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, High palate, Narrow nasal ridge, Persisten... |
ORPHA:740 |
| New-Onset Refractory Status Epilepticus |
|
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... |
ORPHA:363558 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Exaggerated cupid's bow, Spina bifida, Partial agenesis of the corpus callosum, Thin corpus callo... |
OMIM:619480 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:602782 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Pa... |
ORPHA:79139 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
| Cohen-Gibson Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Macrocephaly, Umbilical hernia, Retrog... |
OMIM:617561 |
| Ring Chromosome 13 Syndrome |
|
Abnormal retinal morphology, Microcephaly, Anencephaly, High palate, Short philtrum, Retinoblasto... |
ORPHA:96176 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema |
ORPHA:88619 |
| Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft palate, Adrena... |
OMIM:273395 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Retrognathia |
OMIM:618022 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Microcephaly, Cryptorchidism, Full cheeks, Lateral ventricle dilatation, Primary microcephaly |
OMIM:619847 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Pyloric stenosis, Thin vermilion border, Hypodontia, Long philtrum, Rod-cone dys... |
OMIM:618419 |
| C Syndrome |
|
Anteverted nares, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Microcephaly, Cr... |
ORPHA:1308 |
| Faundes-Banka Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Premature thelarche, Micrognathia, Underdeveloped nasa... |
OMIM:619376 |
| Marfan Syndrome |
|
Dental crowding, Micrognathia, Open bite, Abnormal zygomatic bone morphology, High, narrow palate... |
ORPHA:558 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Cleft palate, Microcephaly |
OMIM:257910 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
| Stiff Skin Syndrome |
|
Type II diabetes mellitus, Midface retrusion |
ORPHA:2833 |
| Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Anteverted nares, Dep... |
OMIM:618332 |
| Acro-Renal-Ocular Syndrome |
|
Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Microretrognathia, Microcephaly, Carious teeth, Wide anterior fontanel... |
OMIM:278250 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Knobloch Syndrome 1 |
|
Occipital encephalocele, Depressed nasal bridge, Microcephaly, Pyloric stenosis, Bulbous nose, Oc... |
OMIM:267750 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Anteverted nares, Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Wide nasal... |
OMIM:220111 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Microcephaly, Agenesis of corpus callosum, Long philtrum |
ORPHA:85201 |
| Prader-Willi Syndrome |
|
Narrow nasal bridge, Diabetes mellitus, Decreased response to growth hormone stimulation test, Ab... |
ORPHA:739 |
| Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy |
ORPHA:309155 |
| Aneurysm-Osteoarthritis Syndrome |
|
Craniosynostosis, Dental malocclusion, Cleft palate, Umbilical hernia, High palate, Malar flatten... |
ORPHA:284984 |
| Neu-Laxova Syndrome 1 |
|
Spina bifida, Cleft upper lip, Swollen lip, Thick lower lip vermilion, Cleft palate, Stillbirth, ... |
OMIM:256520 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventriculomegaly, Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Choroid pl... |
OMIM:265380 |
| Wolf-Hirschhorn Syndrome |
|
Absent septum pellucidum, Cleft upper lip, Microcephaly, Hydrocephalus, Malrotation of small bowe... |
OMIM:194190 |
| 1P36 Deletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Pyloric stenosis, Cryptorchidism, Hypothyr... |
ORPHA:1606 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Open mouth, Lateral ventricle dilatation, Microcephaly |
ORPHA:565624 |
| Xp21 Deletion Syndrome |
|
Everted lower lip vermilion, Agenesis of corpus callosum |
ORPHA:261476 |
| Warburg-Cinotti Syndrome |
|
Dental crowding, Underdeveloped nasal alae, Gingival overgrowth, High palate, Midface retrusion, ... |
OMIM:618175 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Brachycephaly... |
OMIM:263520 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Microcephaly, High, narrow palate, Hydrocephalus, Short uvula, Neurofib... |
OMIM:619475 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebra... |
OMIM:235730 |
| Craniofrontonasal Syndrome |
|
Abnormality of the dentition, Cleft upper lip, Cleft palate, Hypoplasia of the corpus callosum, A... |
OMIM:304110 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Cleft palate... |
OMIM:236680 |
| Williams-Beuren Syndrome |
|
Colonic diverticula, Diabetes mellitus, Anteverted nares, Depressed nasal bridge, Broad nasal tip... |
OMIM:194050 |
| Meningioma |
|
Papilledema, Enlarged pituitary gland, Facial palsy, Reduced circulating prolactin concentration,... |
ORPHA:2495 |
| Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum, Anteverted nares, Midface retrusion |
ORPHA:420794 |
| Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Brachycephaly, Umbilical hernia, Short philtrum, Malar flattening, Midf... |
OMIM:611962 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
| Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Volvulus, Long upp... |
OMIM:267000 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchi... |
ORPHA:398069 |
| Fanconi Anemia, Complementation Group D2 |
|
Microcephaly, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Hypoplasia of the cor... |
OMIM:227646 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Bulbous nose, Wide nasal bridge, Narrow naris, Retrognathia |
OMIM:617403 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Hydrocephalus,... |
OMIM:164210 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Macular atrophy, Microcephaly, High palate, Hypoplasia of the corpus callosum, Agenesis of corpus... |
OMIM:619418 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Solitary median maxillary central incisor, Intestinal malrotation, High palate, Midface retrusion |
OMIM:619657 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the colon, Adenomatous colonic polyposis, Plexiform neurofibroma, Adenocarcinom... |
OMIM:276300 |
| Monosomy 13Q34 |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:96168 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| 14Q22Q23 Microdeletion Syndrome |
|
Downturned corners of mouth, Optic nerve aplasia, Agenesis of corpus callosum |
ORPHA:264200 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation, Macrocephaly |
OMIM:231670 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:3339 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Short denta... |
OMIM:182250 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Abnormal corpus striatum morphology, Abnormal thalamic MRI s... |
ORPHA:48818 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Protein-losing enteropathy, Coloboma, Micrognathia |
OMIM:618183 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal dental morphology, Spina bifida, Microcephaly, Hydrocephalus, Optic atrophy, Everted low... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal dental morphology, Spina bifida, Microcephaly, Hydrocephalus, Optic atrophy, Everted low... |
ORPHA:363958 |
| Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Ventriculomegaly, Microcephaly |
OMIM:617397 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida oc... |
OMIM:119500 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Broad uvula, Hy... |
OMIM:619472 |
| Loeys-Dietz Syndrome 2 |
|
Eosinophilic infiltration of the esophagus, Craniosynostosis, Micrognathia, Hydrocephalus, Cleft ... |
OMIM:610168 |
| Congenital Disorder Of Deglycosylation 1 |
|
Anteverted nares, Microcephaly, Brachycephaly, Sunken cheeks, Midface retrusion, Open mouth |
OMIM:615273 |
| Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Tracheoesophageal fistula... |
ORPHA:1199 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
OMIM:619503 |
| Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Hydrocepha... |
ORPHA:3472 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Agenesis of corpus cal... |
ORPHA:261537 |
| Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
| Brain-Lung-Thyroid Syndrome |
|
Cavum septum pellucidum, Agenesis of corpus callosum, Hypodontia, Microcephaly |
ORPHA:209905 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Retrognathia |
ORPHA:91387 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Absent septum pellucidum, Hiatus hernia, Abnormal cortical gyration, Esop... |
ORPHA:2538 |
| Thauvin-Robinet-Faivre Syndrome |
|
Coloboma, Macroglossia, Thick vermilion border, Retinal coloboma |
OMIM:617107 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Hypointensity of cerebral white matter on MRI, Optic atrophy, Abno... |
ORPHA:845 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Calcification of the auricular cartilage, Bilateral cryptorchidism, Hydrocephalus, Plagiocephaly,... |
ORPHA:3042 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Sim... |
ORPHA:1465 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease... |
ORPHA:168577 |
| Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Periventricular cysts, Increased caudate lactate level, Hyperinten... |
ORPHA:3008 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Midface retrusion |
ORPHA:280229 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Relative macrocephaly, Frontal bossing, Depressed nasal bridge, Platybasia, Midface retrusion |
OMIM:618019 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Cerebral calcification, Intestinal perforation, Retinal hemorrhage, Abnormal basal ganglia morpho... |
ORPHA:464321 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Diabetes mellitus, Microcephaly |
OMIM:619278 |
| Marfan Syndrome |
|
Dental crowding, Micrognathia, Narrow palate, High palate, Dolichocephaly, Malar flattening, Retr... |
OMIM:154700 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Intestinal malrotation, Microcephaly |
OMIM:605376 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Peroxisome Biogenesis Disorder 1B |
|
Convex nasal ridge, Wide nasal bridge, Midface retrusion |
OMIM:601539 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Thin upper lip vermilion, Dental crowding, Anterior pituitary hypoplasia, High, narrow palate, Dy... |
ORPHA:466791 |
| Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Cleft upper lip, High, narrow palate, Cleft palate, Wide mouth, Macroglossia, A... |
ORPHA:373 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macroglossia, Thick vermilion border, Macrocephaly, Spina bifida occulta, Midface retrusion |
ORPHA:500095 |
| Loeys-Dietz Syndrome 3 |
|
Craniosynostosis, Eosinophilic infiltration of the esophagus, Dental malocclusion, Cleft palate, ... |
OMIM:613795 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Coloboma, Long philtrum |
OMIM:615877 |
| Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, M... |
ORPHA:649 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
| Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation, Hypothyroidism, Microcephaly |
OMIM:619487 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
| Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Abnormality of the dentition, Esophageal atresia, Thick lowe... |
ORPHA:506358 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large basal ganglia, Widely spa... |
ORPHA:2152 |
| Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
| Nasolacrimal Duct Cyst |
|
Nasal congestion, Deviated nasal septum |
ORPHA:141083 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Downturned corners of mouth, Thin upper lip vermilion, Midface retrusion |
OMIM:619557 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Abnormality of the dentition, Celiac disease, High, narrow palat... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
High urinary gonadotropin level, Abnormality of the dentition, Celiac disease, High, narrow palat... |
ORPHA:99228 |
| Monosomy X |
|
High urinary gonadotropin level, Abnormality of the dentition, Celiac disease, High, narrow palat... |
ORPHA:99226 |
| Turner Syndrome |
|
High urinary gonadotropin level, Abnormality of the dentition, Celiac disease, High, narrow palat... |
ORPHA:881 |
| Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carcinoma, Pancreatic hyperplasia, Prom... |
OMIM:130650 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Midface retrusion |
OMIM:613095 |
| Williams Syndrome |
|
Micrognathia, Rectal prolapse, Microdontia, Spina bifida occulta, Abnormality of the diencephalon... |
ORPHA:904 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Streak ovary, Flat occiput, Hypergonadotropic hypogonadism, Microcephal... |
ORPHA:2232 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Midface retrusion |
ORPHA:93360 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Precocious puberty, Deep philtrum, Cryptorchidism, Abnormali... |
ORPHA:438213 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:93317 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Aganglionic megacolon, Cleft upper lip, Microcephaly, High, narrow palate, Recta... |
OMIM:309800 |
| Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hydrocephalus, Downturned corners of mouth, Thin vermilio... |
OMIM:264090 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Cerebellar vermis hypoplasia, Intestinal malrotation, Hydroceph... |
OMIM:312870 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Secondary microcephaly |
ORPHA:2148 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nasal septum perforation |
OMIM:615934 |
| Cog2-Cdg |
|
Secondary microcephaly, Small pituitary gland |
ORPHA:435934 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Secondary microcephaly, Small pituitary gland |
OMIM:617395 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
| Joubert Syndrome 38 |
|
Frontal bossing, Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decre... |
OMIM:619476 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Esophageal varix, Frontotempor... |
OMIM:619534 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Absent septum pellucidum, Microcephaly,... |
ORPHA:2273 |
| Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hypogo... |
ORPHA:79318 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Macrocephaly, Multiple enchondromatosis, Thin vermilion border, Long philtrum, Retrognathia, Vent... |
ORPHA:99646 |
| Proximal Renal Tubular Acidosis |
|
Coloboma, Enamel hypomineralization, Malabsorption |
ORPHA:47159 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Anteriorly placed anus, Rectoperineal fistula, Agenesis of corpus callosum |
OMIM:618748 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ... |
ORPHA:79138 |
| Choreoacanthocytosis |
|
Lateral ventricle dilatation, Temporomandibular joint crepitus, Protruding tongue |
ORPHA:2388 |
| Townes-Brocks Syndrome |
|
Rectoperineal fistula, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Chorioretinal co... |
ORPHA:857 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:289548 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis... |
ORPHA:449563 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Increased head circumference, Lateral ventricle dilatation |
OMIM:612301 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Monosomy 22Q13.3 |
|
Agenesis of corpus callosum, Dental crowding, Dental malocclusion |
ORPHA:48652 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Microcephaly, Short umbilical cord, Full cheeks |
OMIM:618367 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Dandy-Walker malformation, Cleft upper lip, Esophageal atresia, Ectopic anus, Cerebellar hypoplas... |
ORPHA:93271 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... |
ORPHA:227982 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Primary adrenal i... |
ORPHA:227990 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300106 |
| Yunis-Varon Syndrome |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Premature loss of primary teeth, Microcep... |
OMIM:216340 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Igg4-Related Kidney Disease |
|
Sialadenitis, Abnormality of the anterior pituitary, Chronic sinusitis, Thyroiditis |
ORPHA:449395 |
