Oculomaxillofacial Dysostosis |
|
Median cleft lip, Short stature, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality ... |
ORPHA:1794 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Broad nasal tip, Cleft upper lip, Micrognathia, Facial cleft, Cleft palate, Small thenar eminence... |
OMIM:239800 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... |
ORPHA:952 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Short stature, Abnormality of the dentition, Carious teeth, Facial cleft, Abno... |
ORPHA:1786 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Short stature, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... |
ORPHA:1791 |
Anophthalmia Plus Syndrome |
|
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Facial cleft, Cleft palate, Bi... |
ORPHA:1104 |
Supernumerary Nostril |
|
Abnormality of ethmoid sinus, Supernumerary naris, Facial cleft, Choanal atresia |
ORPHA:141096 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
Frontonasal Dysplasia 3 |
|
Facial cleft, Wide nasal bridge, Cleft palate, Underdeveloped nasal alae |
OMIM:613456 |
Cerebrooculonasal Syndrome |
|
Facial cleft, Widely spaced teeth, High palate, Solitary median maxillary central incisor, Long p... |
ORPHA:66625 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ridge, Facial cleft, Cleft... |
OMIM:607597 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Camptodactyly of finger, Intestinal malrotation, Micrognathia, Polyhydramnios, ... |
ORPHA:99776 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Facial cleft, Orofacial cleft, ... |
ORPHA:1647 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r... |
OMIM:613451 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Facial cleft, Cleft upper lip, Bilateral cleft lip |
OMIM:601357 |
Fryns Microphthalmia Syndrome |
|
Facial cleft, Bilateral cleft lip and palate |
OMIM:600776 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Branchial fistula, Abnormal d... |
ORPHA:861 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... |
ORPHA:1248 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Facial cleft, Tracheoesophageal fis... |
ORPHA:268249 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognat... |
OMIM:619941 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic fronta... |
OMIM:136760 |
Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Bifid nasal tip, Cleft upper lip, Midline facial cleft, Wide nasal bridge, Cleft... |
OMIM:603671 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge... |
ORPHA:261295 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... |
OMIM:620107 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... |
OMIM:137550 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, Micrognathia... |
ORPHA:2409 |
3Mc Syndrome 3 |
|
Short stature, Diastasis recti, Cleft upper lip, Facial cleft, Cleft palate, Growth delay |
OMIM:248340 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence... |
OMIM:620183 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Prominent nose, Bulbous nose, Retrognathia, Depressed nasal tip, Lateral ventr... |
ORPHA:293725 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Underdeveloped nasal alae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathi... |
OMIM:263650 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Midline notch of upper alveola... |
OMIM:617127 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Broad nasal tip, Hypoplasia of the pons, Micrognathia, Hydrocephalus, Hypo... |
OMIM:620157 |
Unilateral Ocular Duplication |
|
Polyhydramnios, Midline facial cleft, Median cleft lip, Cleft palate |
ORPHA:3374 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short stature, Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss o... |
OMIM:156510 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Camptodactyly |
OMIM:246560 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi... |
ORPHA:1529 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Anteverted nares, Short stature, Depressed nasal bridge, Cleft soft pal... |
OMIM:616331 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Chiari malformation, Aplasia/Hypoplasi... |
ORPHA:93262 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Short stature, Cleft soft palate, Broad nasal tip, Abnormality of the dentition... |
OMIM:618529 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Cerebellar atrophy, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge |
OMIM:618302 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition, Short stature, Broad nasal tip |
ORPHA:2776 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Short stature, Camptodactyly of finger, Cleft upper ... |
ORPHA:915 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Lip pit, Facial cleft, Hypodontia, Abnormal palat... |
ORPHA:1236 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Depressed nasal bridge, Dental cr... |
OMIM:219000 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Rhizomelia, Short stature, Broad nasal tip, Cleft hard palate, Micrognathia, Knee flexion contrac... |
ORPHA:166016 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Prominent nasal bridge, Camptodactyly of finger, Hypoplasia of the maxilla, High p... |
ORPHA:85279 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Short stature, Narrow na... |
OMIM:620370 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... |
OMIM:618779 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Chiari malformation, Ce... |
ORPHA:207 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ventriculomegaly, Hypoplasia of the maxilla, Flexion contracture, Wide n... |
OMIM:218000 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Ventriculomegaly, Depressed nasal bridge, Cleft upper lip, Micrognathia, Esophageal at... |
ORPHA:93271 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, High palate, Widely spaced teeth, Aplasia/Hyp... |
ORPHA:192 |
Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Short stature, Accessory oral frenulum, Broad nasal tip... |
OMIM:252100 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Abnormality of the dentition, M... |
ORPHA:776 |
Cohen Syndrome |
|
Facial hypotonia, Prominent nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:216550 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Narrow ... |
ORPHA:2412 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Camptodactyly, Molar tooth sign on... |
OMIM:614815 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Conical tooth, Cleft upper lip,... |
OMIM:129400 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th... |
OMIM:101600 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Polyhydramnios, Micrognathia, Flexion contracture, Depressed nasal ridge... |
ORPHA:2671 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Short lingual frenulum, Broad nasal tip, Dental crowding, Hypoplasia of... |
ORPHA:293939 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum |
ORPHA:93945 |
Hydrolethalus |
|
Polyhydramnios, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Abnormali... |
ORPHA:2189 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum |
ORPHA:90653 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... |
OMIM:608670 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnorma... |
ORPHA:3201 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Short stature, Camptodactyly of finger, Micrognathia, Submucous cleft hard... |
OMIM:114300 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
Keipert Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Short stature, Prominent nasal bridge, Exagge... |
ORPHA:2662 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced... |
OMIM:618737 |
Marshall Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Abnormality of the dentition, Micrognath... |
ORPHA:560 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Prominent nose, Persiste... |
ORPHA:763 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Short stature, Supernumerary tooth, Submucous cleft hard palate, Thick lo... |
OMIM:617412 |
Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Ventriculomegaly, Limb hypertonia |
ORPHA:99742 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Hydrocephalus, Cleft palate, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:614120 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Abnormality of the den... |
ORPHA:2712 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Congenital diaphragmatic hernia, Broad nasal tip, Underdev... |
ORPHA:250999 |
Pde4D Haploinsufficiency Syndrome |
|
Prominent nasal tip, Thin upper lip vermilion, Mandibular prognathia, Depressed nasal bridge, Abn... |
ORPHA:439822 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Anal atresia |
ORPHA:93950 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Carious teeth, Hypop... |
ORPHA:50814 |
Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypopl... |
ORPHA:87 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short stature, Intestinal malrotatio... |
OMIM:614701 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate... |
ORPHA:1307 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Short stature, Abnormal dental enamel morphology, Abnormality of the dentiti... |
ORPHA:1798 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Abnormal so... |
ORPHA:884 |
Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Short stature, Depressed nasa... |
ORPHA:950 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Ma... |
ORPHA:79113 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft... |
ORPHA:178303 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Short stature, Prominent nasal bridge, Cleft soft palate... |
OMIM:615582 |
Desmosterolosis |
|
Severe short stature, Depressed nasal bridge, Intestinal malrotation, Abnormality of the nose, Mi... |
ORPHA:35107 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contr... |
ORPHA:481152 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Short stature, Dental crowding, Underdeveloped nasal alae, Long nose, ... |
OMIM:257850 |
Schilbach-Rott Syndrome |
|
Short stature, Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, Narrow mouth... |
OMIM:164220 |
Constricting Bands, Congenital |
|
Facial cleft, Cleft palate, Cleft upper lip |
OMIM:217100 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
3Mc Syndrome 2 |
|
Torticollis, Prominence of the premaxilla, Diastasis recti, Hypoplasia of the musculature, Partia... |
OMIM:265050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat... |
OMIM:309520 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Thin upper lip vermilion, Mandibular prognathia, Facial hypotonia, ... |
OMIM:300534 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Scapular winging, Short stature, Dental crowding, Persistence of primar... |
OMIM:170390 |
Holoprosencephaly 1 |
|
Short stature, Proboscis, Facial cleft, Aplasia of the nose, Cerebellar hypoplasia, Median cleft ... |
OMIM:236100 |
Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Smooth philtrum |
OMIM:614526 |
Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar ... |
OMIM:108721 |
Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Submucous cleft hard palate, Short stature, Bifid uvula |
OMIM:601492 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Facial hypotonia, Short stature, Dental crowding, Broad nasal tip, Protruding tongue, Submucous c... |
OMIM:618106 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Hydrocephalus, Submucous cleft h... |
OMIM:612863 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Cerebellar vermis hypoplasia, Short stature, Micrognathia, Bi... |
ORPHA:314679 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Severe short stature, Facial palsy, Micrognathia, High, narrow palate,... |
ORPHA:2780 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening |
OMIM:241310 |
Nager Syndrome |
|
Micrognathia, Abnormal nasal morphology, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft ... |
ORPHA:245 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Depressed nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Disproportionate short statur... |
OMIM:222765 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short stature, Hypoplasia of the maxilla, Cleft palate, Short nose, Right ventricular ... |
OMIM:614261 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Growth delay... |
ORPHA:782 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Short stature, Abnormality of the dentition, Abnormality of canine, Mic... |
ORPHA:363417 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge... |
OMIM:601499 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Cerebellar vermis hypoplasia, Prominent nasal bridge, Agenesis of cer... |
OMIM:614424 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Short stature, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, C... |
OMIM:305400 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb muscle weakness |
OMIM:300266 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Absent extraocular mus... |
OMIM:109120 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Short stature, Cleft soft palate, Micrognathia, Wide nasal bridge, Submucous cl... |
ORPHA:2282 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology |
ORPHA:1540 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Short stature, Trismus, Submucous cleft hard palate |
OMIM:609166 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature |
OMIM:608154 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Submucous cleft soft palate, Micrognathia, Abnormality of... |
ORPHA:168572 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Mild postnatal growth retarda... |
OMIM:101800 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Submucous cleft ... |
OMIM:619103 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Narrow nose, Microg... |
OMIM:601812 |
Cohen Syndrome |
|
Short stature, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality... |
ORPHA:193 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Unilateral cleft palate, Flat nasal alae, Bilateral cle... |
OMIM:610828 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum, Over... |
OMIM:619142 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Polyhydramnios, Micrognathia, Postnatal growth retardation, Cle... |
OMIM:117650 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Depressed nasal bridge, Short stature, Broad nasal tip, Micrognathia, H... |
OMIM:212720 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... |
ORPHA:2588 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Abnormal m... |
ORPHA:444072 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:397973 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly, Hydrocephalus, Submucous cleft hard palate, Cleft pala... |
ORPHA:899 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal b... |
OMIM:106260 |
W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Severe short stature, Cleft soft palate, Polyhydramnios, Micrognathia, Disproportionate short-tru... |
ORPHA:93316 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Birth length... |
OMIM:613805 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Postnatal growth retardat... |
ORPHA:251061 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Cleft soft palate, Intestinal malrotation, Hydrocephalus, Flexion contracture, Dow... |
OMIM:619321 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Short stature, Dental crowding, Persistenc... |
ORPHA:37553 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... |
ORPHA:2756 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Diastasis recti, Micrognathia, Hypoplasia of the maxill... |
OMIM:608149 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Unilateral alveo... |
ORPHA:2751 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Short stature, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Trach... |
OMIM:619227 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft l... |
OMIM:619122 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Prominent nose, Hydrocephalus, Wide nasal bridge, Gr... |
OMIM:614886 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Denta... |
OMIM:300990 |
Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Hydrocephalus, Cleft palate, Molar tooth sign on MRI, Intrauterine... |
OMIM:611134 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia |
OMIM:166300 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... |
OMIM:211380 |
Cree Mental Retardation Syndrome |
|
Webbed neck, Cleft soft palate, Micrognathia |
OMIM:606851 |
Stickler Syndrome, Type I |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Pierre-Robin... |
OMIM:108300 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Micrognathia, Pyloric ste... |
ORPHA:2461 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate, De... |
OMIM:123500 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia ... |
OMIM:610829 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Anteverted nares, Underdeveloped nas... |
OMIM:209885 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... |
OMIM:612292 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition,... |
OMIM:608156 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Exaggerated cup... |
OMIM:619306 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... |
OMIM:601390 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Short stature, Depressed nasal bridge, Abnormality of the dentition, Open bite,... |
OMIM:115150 |
Zttk Syndrome |
|
Depressed nasal bridge, Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, F... |
OMIM:617140 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Birth length l... |
OMIM:613804 |
Van Den Ende-Gupta Syndrome |
|
Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Micrognathia, High, narrow pa... |
OMIM:600920 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil... |
ORPHA:228396 |
Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High palate, Short p... |
OMIM:602535 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognath... |
OMIM:616462 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Anteriorly placed anus, Abnormal midbrain morphology |
ORPHA:280195 |
Carpenter Syndrome 1 |
|
Depressed nasal bridge, Short stature, Persistence of primary teeth, Micrognathia, Hypoplasia of ... |
OMIM:201000 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short stature, Prominent nasal bridge, Cleft soft palate, Underdeveloped nasal alae, Broad nasal ... |
ORPHA:268261 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Congenital diaphragmatic hernia, Hamartoma ... |
OMIM:616546 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Prominent nose, Cleft lip, Hypop... |
OMIM:616300 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa... |
OMIM:609460 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... |
ORPHA:238468 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2554 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal grow... |
OMIM:223370 |
Duplication Of The Pituitary Gland |
|
Short stature, Abnormal midbrain morphology, Polyhydramnios, Supernumerary tooth, Abnormality of ... |
ORPHA:314621 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Anteverted nares, Camptodactyly of finger, Micrognathia, Hypoplasia ... |
ORPHA:2462 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Severe short stature, Anteverted nares, Rhizome... |
OMIM:166250 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... |
OMIM:615546 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Broad nasal tip, Abnormality of the dentition, Car... |
ORPHA:1299 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Proportionate short stature, Broad nasal tip, Postnatal growth retardation, Hypoplasia of the max... |
ORPHA:79345 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Dental crowding, Malar flattening, Prominent nose, High, narrow palate, Narr... |
OMIM:300967 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Broad nasal tip, Submucous cleft h... |
OMIM:619680 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Limb joint contracture, Camptodactyly of finger, Abnormal midbrain morphology... |
ORPHA:356961 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Anteverted nares, Short stature, Dental crowding, Broad nasal tip, Hypopla... |
OMIM:617402 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla |
OMIM:264270 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard... |
ORPHA:457279 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Short stature, Polyhydramnios, Cleft upper lip, Postnatal growth ret... |
OMIM:213980 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Dental malocclusion, Na... |
OMIM:182212 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Short stature, Prominent nasal bridge, Open bite, Hypoplasia of the maxil... |
ORPHA:794 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Short stature, Cleft soft palate, Micrognathia, Nonimmune hydrops fetalis... |
ORPHA:124 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Frontorhiny |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Mi... |
ORPHA:391474 |
Velocardiofacial Syndrome |
|
Short stature, Underdeveloped nasal alae, Bulbous nose, Submucous cleft hard palate, Velopharynge... |
OMIM:192430 |
Restrictive Dermopathy 1 |
|
Natal tooth, Depressed nasal bridge, Limb joint contracture, Narrow nasal ridge, Choanal atresia,... |
OMIM:275210 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cerebellar vermis hypoplasia, Anteverted nares, Hiatus hernia, Post... |
OMIM:304050 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Short stature, Depressed nasal bridge, Lymphedema, Hydrocephalus, Submucous cle... |
ORPHA:1340 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Narrow nasal bridge, Hip contracture, Delayed eruption of teeth, Short stature, Interphalangeal j... |
OMIM:259600 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Short stature, Flexion contracture, Submucous cleft hard palate, Generalized ... |
OMIM:618891 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Thin upper lip vermilion, Broad nasal tip, Deep philtrum, Submucous cleft hard p... |
OMIM:619194 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... |
ORPHA:3044 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Hypoplasi... |
OMIM:139210 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... |
OMIM:305100 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med... |
OMIM:142946 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Short stature, Macrodontia, Cleft upper lip, Micrognathia, Hypoplasia of ... |
ORPHA:1106 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Anteverted nares, Short stature, Depressed nasal bridge, Abnormal dental... |
ORPHA:828 |
Cowden Syndrome 1 |
|
Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Micrognathia, Hypoplasia of the ... |
OMIM:158350 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Short stature, Malabsorption, P... |
ORPHA:235 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypo... |
ORPHA:2095 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Malabsorption, Cleft upper lip... |
ORPHA:50 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Flexion contracture, Cleft palate, Birth l... |
OMIM:224690 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Depressed nasal bridge, Short lingual frenulum, Flexion contracture, Wide nasal bridge, Lateral v... |
OMIM:619479 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Treacher Collins Syndrome 1 |
|
Choanal atresia, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid glan... |
OMIM:154500 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Severe short stature, Choanal atresia, Facial palsy, Abnormal dental ename... |
ORPHA:2658 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla... |
OMIM:613803 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Bilateral cleft lip ... |
ORPHA:2003 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Short stature, Intestinal malrotation, Submucous cleft hard palate, Cleft... |
ORPHA:3426 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Fetal ascites, Prominent nose, Micrognathia, Deep philtru... |
OMIM:619503 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft ... |
ORPHA:69085 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Polyhydramnios, Hydrocephalus... |
ORPHA:2166 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Severe short stature, Camptodactyly of finger, Polyhydramnios, Prominent nose, Long nose, Microgn... |
ORPHA:3047 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Lobulated tongue, Molar tooth sign on MRI, Dandy-Walker malformation, Cleft upper l... |
OMIM:249000 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Smooth philtrum, Depressed nasal bridge, Proportionate short stature, Submucous cleft soft palate... |
ORPHA:500150 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas... |
ORPHA:2399 |
Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... |
ORPHA:920 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of... |
OMIM:180849 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognath... |
OMIM:614437 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Colpocephaly, Aplasia ... |
OMIM:301043 |
Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Na... |
OMIM:277600 |
Greenberg Dysplasia |
|
Rhizomelia, Depressed nasal bridge, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Noni... |
OMIM:215140 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Selective tooth agenes... |
OMIM:129900 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Short statur... |
OMIM:614188 |
Wiedemann-Rautenstrauch Syndrome |
|
Downturned corners of mouth, Chiari type I malformation, Short philtrum, Premature loss of teeth,... |
ORPHA:3455 |
Coffin-Siris Syndrome 12 |
|
Anteverted nares, Prominent nasal bridge, Short stature, Facial palsy, Depressed nasal bridge, Un... |
OMIM:619325 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Severe short stature, Hypoplasia of the maxilla, Periodontitis, Camptodact... |
OMIM:231070 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Cleft soft palate, Polyhydramnios, Myopathy, Type 1 muscle fiber predomi... |
OMIM:614557 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Bulbou... |
ORPHA:434179 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Short stature, Malabsorption, Abnormality of the dentition, Carious teeth, H... |
ORPHA:1775 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Hypoplasia of th... |
ORPHA:96334 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia of the maxilla, El... |
OMIM:608328 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Broad nasal tip, Bifid nasal ti... |
OMIM:300166 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Webbed neck, Ant... |
OMIM:261540 |
Campomelic Dysplasia |
|
Irregular dentition, Depressed nasal bridge, Polyhydramnios, Micrognathia, Carious teeth, Contrac... |
OMIM:114290 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
Tolchin-Le Caignec Syndrome |
|
Diastasis recti, Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, Hi... |
OMIM:618971 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Multiple joint contractures, Camptodactyly of... |
ORPHA:1662 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, High palate, Broad uvula, B... |
OMIM:619472 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Anal stenosis, Absence of Stensen duct, Choanal atresia, Selecti... |
OMIM:604292 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:261537 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Short statur... |
ORPHA:2673 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:2152 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Severe short stature, Prominent nose, Long nose, Micrognathia, Bulbous nose, Submucous cleft hard... |
ORPHA:2636 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ... |
ORPHA:1101 |
Adult Krabbe Disease |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Upper limb muscle weakness, ... |
ORPHA:206448 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Short stature, Bifid uvula |
OMIM:617660 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Flexion ... |
ORPHA:261552 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormality of taste sensation, Abnormal medulla oblongata morphology, Sinus... |
ORPHA:68 |
Hardikar Syndrome |
|
Short stature, Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilat... |
OMIM:301068 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Short stature, Anteverted nares, Depressed nasal bridge... |
OMIM:259050 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Short philtrum, Cleft palate |
ORPHA:96129 |
Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Hydro... |
OMIM:164210 |
Saethre-Chotzen Syndrome |
|
Short stature, Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, ... |
OMIM:101400 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Abnormal substantia nigra morphology, Facial palsy, Abnormal midbrain mo... |
ORPHA:79139 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Short stature, Aganglionic megacolon, Pyloric stenosis, Generalized mu... |
OMIM:235730 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Short stature, Broad nasal tip, Long nose, Persistence of primary teeth, Cel... |
ORPHA:2044 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... |
OMIM:180500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal bridge, Camptodactyly of finger, Cleft upper lip, Hydrocephalus, Submucous cleft ... |
OMIM:607872 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Short stature, Carious teeth, Hypoplasia of the maxilla, Eruption failu... |
OMIM:182250 |
Neuroocular Syndrome |
|
Scapular winging, Short stature, Short uvula, Submucous cleft hard palate, Downturned corners of ... |
OMIM:619539 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Anteverted nares, Short stature, Abnormal midbrain morphology, Depressed nasal bridge, Celiac dis... |
ORPHA:293987 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Disproportionate short-trunk short stature |
OMIM:300106 |