| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
| Deafness, Progressive, With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Bilateral conductive hearing impairment, Stapes ankylosis |
ORPHA:3235 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit... |
OMIM:128980 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... |
ORPHA:199306 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Hearing impairment, Microdont... |
OMIM:619736 |
| Congenital Laryngomalacia |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2373 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin... |
OMIM:221300 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
| Deafness, X-Linked 2 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
| Anonychia-Microcephaly Syndrome |
|
Abnormality of the dentition, Carious teeth |
ORPHA:1094 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... |
ORPHA:3232 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
| Rhizomelic Syndrome |
|
Micrognathia, Hip dislocation, Wide anterior fontanel |
OMIM:268250 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va... |
ORPHA:2972 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Respiratory di... |
ORPHA:1832 |
| Bartsocas-Papas Syndrome 2 |
|
Low-set ears, Axillary pterygium, Popliteal pterygium, Micrognathia, Bilateral cleft palate, Bila... |
OMIM:619339 |
| Lissencephaly, X-Linked, 2 |
|
Wide nasal bridge, Low-set ears, Long philtrum, Micrognathia, Prominent nasal bridge, Thin upper ... |
OMIM:300215 |
| Larsen-Like Syndrome |
|
Low-set ears, Dental malocclusion, Conductive hearing impairment, Joint dislocation, Recurrent ot... |
OMIM:608545 |
| Chromosome 16Q22 Deletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Micrognathia, Sensorineural hearing impa... |
OMIM:614541 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Low-set ears, Pointed chin, Dilated third ventricle, Lateral ventricle dilatation, Long philtrum,... |
OMIM:619244 |
| Craniometadiaphyseal Dysplasia |
|
Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Genu valgum,... |
OMIM:269300 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Obl... |
ORPHA:3352 |
| Tooth Agenesis, Selective, 1 |
|
Hypodontia |
OMIM:106600 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... |
ORPHA:401942 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Anteverted nares, Narrow mo... |
ORPHA:2412 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Orbital craniosynostosis, Micrognathia, Cerebellar hypoplasia, Hydrocephalus, Dolichocephaly, Fro... |
ORPHA:1538 |
| Rhizomelic Syndrome, Urbach Type |
|
Depressed nasal bridge, Micrognathia, Abnormality of the knee, High palate, Cleft palate, Hip dis... |
ORPHA:3098 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Cryptorchidism, Bi... |
OMIM:610829 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Low-set ears, Anteverted nares, Malar flattening, Smooth philtrum, Wormi... |
OMIM:601853 |
| Orofaciodigital Syndrome Ii |
|
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Depressed nasal bridge, Lobulated to... |
OMIM:252100 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Low-set ears, Bifid uvula, Ventriculomegaly, Cerebellar atrophy, Retrognathia, Dilated fourth ven... |
OMIM:620428 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Low-set ears, Large posterior fontanelle, Long philtrum, Death in infancy, Jaundice, High palate,... |
OMIM:614872 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Craniosynostosis, Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Brachyce... |
ORPHA:1695 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Microretrognathia, Dilated fourth ventri... |
OMIM:220220 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea... |
OMIM:614669 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Downturned corners of mouth, Lateral vent... |
OMIM:613443 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Long philtrum, Anteverted nares, Micrognathia... |
OMIM:618577 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Wide nasal bridge, Low-set ears, Prominent nose, Micrognathia, Narrow mouth, High palate, Short p... |
OMIM:201170 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathi... |
ORPHA:163649 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar... |
ORPHA:99772 |
| Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Plagiocephaly, ... |
OMIM:101400 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth, Hearing impairment |
ORPHA:2222 |
| Perching Syndrome |
|
Depressed nasal bridge, Respiratory distress, Cyanosis, High palate, Dysphagia |
OMIM:617055 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Delayed cranial suture closure, Vertebral fusion, Delayed eruption... |
OMIM:113000 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Intestinal malrotation, Prominen... |
OMIM:613684 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Sensorineural h... |
OMIM:166750 |
| Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... |
OMIM:137550 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Broad nasal tip, Narrow nasal bridge, Micrognathia, Open mouth, Tented upper... |
ORPHA:166108 |
| Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment, Gingival fibromatosis, Delayed eruption of teeth, Gingival over... |
ORPHA:2027 |
| Orofacial Cleft 15 |
|
Low-set ears, Palate fistula, Bulbous nose, Cryptorchidism, Bilateral cleft palate, Protruding ea... |
OMIM:616788 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Respiratory distress, Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Cle... |
ORPHA:141152 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... |
ORPHA:2025 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
| Gómez-López-Hernández Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Anteverted nares, Abnormal cerebellum morphology, Tur... |
ORPHA:1532 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel |
OMIM:618272 |
| Holoprosencephaly 2 |
|
Bifid uvula, Proboscis, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilat... |
OMIM:157170 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Low-set ears, Congenital hip dislocation, Carious teeth, Long philtrum, Anteverted nares, Narrow ... |
OMIM:219200 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Hearing impairment, Underdeveloped nasal alae, Cleft mandibl... |
ORPHA:364577 |
| Elsahy-Waters Syndrome |
|
Low-set ears, High palate, Wide nose, Pointed chin, Hypoplasia of the maxilla, Impacted tooth, Bu... |
OMIM:211380 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Hearing impairment, Delayed ossification of carpal bones, Genu valgum,... |
OMIM:620099 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn... |
ORPHA:3145 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| 17Q21.31 Microduplication Syndrome |
|
Abnormality of the dentition, Abnormality of the outer ear, Anteverted nares, Micrognathia, Malar... |
ORPHA:217340 |
| Progeroid Syndrome, Petty Type |
|
Tooth agenesis, Low-set, posteriorly rotated ears, Reduced subcutaneous adipose tissue, Everted l... |
ORPHA:2963 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Thin upper lip vermilion, Shor... |
ORPHA:2015 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
| Otosclerosis 11 |
|
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... |
OMIM:620576 |
| Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... |
OMIM:618761 |
| Sweeney-Cox Syndrome |
|
Low-set ears, Crumpled ear, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Narro... |
OMIM:617746 |
| Maxillonasal Dysplasia |
|
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Tooth agenesis, Open bi... |
ORPHA:1248 |
| Pierpont Syndrome |
|
Ventriculomegaly, Chiari malformation, Hearing impairment, Widely spaced teeth, Excessive wrinkli... |
ORPHA:487825 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia, Diastema, Bicoronal synostosis, Agenesis of molar, Cryptorchidism, Anterior plagiocephal... |
OMIM:619718 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Low-set ears, Retrognathia, Underdeveloped nasal alae, Large fleshy ears, Micrognathia, Smooth ph... |
OMIM:263210 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wide nasal bridge, Low-set ears, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of fing... |
ORPHA:2863 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Broad nasal tip, Diastema, Decreased response to ... |
OMIM:609757 |
| Tetrasomy 5P |
|
Wide nasal bridge, Low-set ears, Long philtrum, Respiratory distress, Anteverted nares, Micrognat... |
ORPHA:3309 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
| Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... |
OMIM:611572 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen... |
ORPHA:49042 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Coronal craniosynostosis, Large posterior fontanelle, Hearing impairment, Delayed cranial suture ... |
ORPHA:85199 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Van Maldergem Syndrome 1 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, A... |
OMIM:601390 |
| Clark-Baraitser Syndrome |
|
Low-set ears, Pointed chin, Depressed nasal bridge, Downturned corners of mouth, Long philtrum, L... |
OMIM:617752 |
| Adenylosuccinate Lyase Deficiency |
|
Low-set ears, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Brachyc... |
ORPHA:46 |
| Cornelia De Lange Syndrome 5 |
|
Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Downturned corners of mouth, Long phil... |
OMIM:300882 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Hearing impairment, Micrognathia, Protrusio acetabuli, Wormian bones, ... |
OMIM:259420 |
| Six2-Related Frontonasal Dysplasia |
|
Depressed nasal bridge, Broad nasal tip, Absent/hypoplastic paranasal sinuses, Prominent palatine... |
ORPHA:488437 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Micrognathia, Open mouth, Sensorineural hearing impairment, Everted lower lip vermi... |
OMIM:618342 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Micrognathia, Tachypnea, High palate, Peg-shaped maxil... |
ORPHA:2751 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
| Craniolenticulosutural Dysplasia |
|
Wide nasal bridge, Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Antevert... |
OMIM:607812 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... |
ORPHA:3216 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Micrognathia, Malar flattening, Wormian bones, Obtuse angle of mandible, High palate, Wide anteri... |
ORPHA:85184 |
| Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia |
OMIM:613857 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Broad nasal tip, Anteverted nares, Everted lower lip vermilion, Thi... |
ORPHA:1193 |
| Branchiooculofacial Syndrome |
|
Low-set ears, Dimple chin, Hearing impairment, Supernumerary nipple, Premature graying of hair, M... |
OMIM:113620 |
| Malan Syndrome |
|
Retrognathia, Cutis marmorata, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, ... |
OMIM:614753 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival bleeding, Low-set ears, Poor wound healing, Bruising susceptibility, Recurrent mandibula... |
OMIM:225410 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Meckel diverticulum, Retrognathia, ... |
ORPHA:163961 |
| Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set ears, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Sup... |
ORPHA:397715 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... |
OMIM:609637 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Dental crowding, Lateral ventricle dilatation, Plagiocephaly, Partial ag... |
OMIM:617296 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Auriculocondylar Syndrome 4 |
|
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Apnea, Glossoptosis, Cleft palate |
OMIM:620457 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Low-set ears, Ventriculomegaly, Plagiocephaly, Alobar holoprosencephaly, Decreased testicular siz... |
OMIM:615433 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... |
ORPHA:1529 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor, Cutaneous photosensitivity |
OMIM:616390 |
| Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Chiari malformation, Hearing impairment, Multiple sut... |
ORPHA:207 |
| Van Maldergem Syndrome 2 |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downtu... |
OMIM:615546 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
| Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Abnormal pinna morpholog... |
OMIM:246560 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Ventriculomegaly, Open bite, Trigonocephaly, Dolichocephaly, High palate, Mandibular prognathia |
ORPHA:168624 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Hearing impairment, Tooth agenesis, Abnormal dental enamel morphology,... |
ORPHA:2325 |
| Orofaciodigital Syndrome Xix |
|
Low-set ears, Carious teeth, Cleft soft palate, Narrow mouth, High palate, Accessory oral frenulu... |
OMIM:620107 |
| Mandibulofacial Dysostosis With Alopecia |
|
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conducti... |
OMIM:616367 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Low-set ears, Depressed nasal bridge, Chiari malformation, Long philtrum, Umbilical hernia, Antev... |
ORPHA:171839 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Low-set ears, Cholelithiasis, Dilated third ventricle, Retrognathia, Lateral... |
ORPHA:464738 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Underdeveloped nasal alae, Anteverted ... |
OMIM:618825 |
| Marden-Walker Syndrome |
|
High, narrow palate, Low-set ears, Joint contracture of the hand, Long philtrum, Anteverted nares... |
OMIM:248700 |
| Fried Syndrome |
|
Hearing impairment, Abnormal cerebellum morphology, Thickened calvaria, Hydrocephalus, High palat... |
ORPHA:85335 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Respiratory distress... |
OMIM:217980 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Velopharyngeal insufficiency, Long philtrum, S... |
OMIM:614701 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Tooth malposition, Depressed nasal bridge, Low-set, posteriorly rotated ears, Furrowed tongue, Mi... |
ORPHA:1387 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Brachyturricephaly, Malar flattening, Cryptorchidism, Agenesis of corpus callos... |
OMIM:218350 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... |
ORPHA:2228 |
| W Syndrome |
|
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Submucous cleft hard palate,... |
ORPHA:2804 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Chiari malformation, Conductive hearing impairment, M... |
ORPHA:93262 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth, Convex nasal ridge, Macular telangiectasia |
ORPHA:69125 |
| Heart And Brain Malformation Syndrome |
|
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Cleft lip, Low-set ears, Thick lo... |
OMIM:616920 |
| Cornelia De Lange Syndrome 2 |
|
Ventriculomegaly, Downturned corners of mouth, Anteverted nares, Micrognathia, Prominent nasal br... |
OMIM:300590 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Low-set ears, Depressed nasal ridge, Velopharyngeal insufficiency, Micrognathia, High palate, Abn... |
OMIM:608363 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Metopic synostosis... |
OMIM:604757 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, L... |
OMIM:617751 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Short mandibular rami, Microtia |
OMIM:141300 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Depressed nasal bridge, Macroglossia, Wide anterior fontanel |
OMIM:275100 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip |
ORPHA:2776 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi... |
OMIM:619797 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Retrognathia, Bilateral cryptorchidism, Va... |
ORPHA:544488 |
| Clark-Baraitser syndrome |
|
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, An... |
OMIM:300602 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose, Thin upper lip vermilion, Smooth philtrum, Protruding ea... |
OMIM:618737 |
| Fibrochondrogenesis 1 |
|
Low-set ears, Depressed nasal bridge, Joint contracture of the hand, Stillbirth, Long philtrum, A... |
OMIM:228520 |
| Recon Progeroid Syndrome |
|
Dental crowding, Progeroid facial appearance, Underdeveloped nasal alae, Anteverted nares, Promin... |
OMIM:620370 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Low-set ears, Downturned corners... |
ORPHA:2409 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Cutis marmorata, Limited elbow ... |
OMIM:619719 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Low-set ears, Abnormality of the outer ear, Hypoplasia of the maxilla, Absent tragus, Conductive ... |
ORPHA:79113 |
| Dandy-Walker Syndrome |
|
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... |
OMIM:220200 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Prominent nose, Prominence of the premaxilla, Delayed closure of the anterior ... |
OMIM:614886 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Neonatal Adrenoleukodystrophy |
|
Wide nasal bridge, Low-set, posteriorly rotated ears, Anteverted nares, Abnormal palate morpholog... |
ORPHA:44 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormality of the dentition, Carious teeth, Prominent nose, Prominent nasal bridge, Hearing abno... |
ORPHA:3270 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Wide nasal bridge, Low-set ears, Underdeveloped nasal alae, Umbilical hernia, Stenosis of the ext... |
ORPHA:1516 |
| Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Low-set ears, Con... |
OMIM:136760 |
| Filippi Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Serrated incisors, Abnormal dental morphology, Micr... |
OMIM:272440 |
| Anauxetic Dysplasia 3 |
|
Depressed nasal bridge, Retrognathia, Genu valgum, Oligodontia, Hip subluxation, Wide anterior fo... |
OMIM:618853 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Posteriorl... |
OMIM:615502 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, High palate, Narrow mouth, Retrognathia |
ORPHA:2528 |
| Zellweger Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Micrognathia, Death in infancy, Sensorineural hearing ... |
ORPHA:912 |
| Acrocallosal Syndrome |
|
Low-set ears, Everted upper lip vermilion, Hearing impairment, Open mouth, Narrow mouth, Protrudi... |
OMIM:200990 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Posterior plagiocephaly, Recurrent otitis media, Ankyloglossia, Micrognathia, Crypt... |
OMIM:619841 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Microglossia, Occipital encephalocele, Micrognathia, Death in infancy, Me... |
OMIM:241800 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Joint contracture of the hand, Dental m... |
OMIM:182212 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Coronal craniosyn... |
OMIM:614188 |
| 2Q32Q33 Microdeletion Syndrome |
|
Low-set ears, Dental crowding, Long philtrum, Decreased testicular size, Anteverted nares, Microg... |
ORPHA:251019 |
| Lujan-Fryns Syndrome |
|
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... |
ORPHA:776 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Low-set ears, Bifid uvula, Depressed nasal bridge, Conductive hearing impairment, Thick lower lip... |
OMIM:617412 |
| X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Cupped ear, Bulbous nose, Short philtrum, Mandibular prognathia, Macrotia |
ORPHA:93945 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, Protruding ear, Aggre... |
ORPHA:85279 |
| Ramon Syndrome |
|
Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens... |
ORPHA:3019 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Dilated third ventricle, Bilateral cryptorchidism, Hamartoma of tongue, Trigon... |
ORPHA:434179 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Weiss-Kruszka Syndrome |
|
Low-set ears, Abnormality of the outer ear, Hearing impairment, Decreased response to growth horm... |
ORPHA:502430 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Depressed nasal bridge, Dental malocclusion, Downturned corners of mouth, Open bite, Low-set, pos... |
ORPHA:1327 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Anal atresia, High palate, Flat o... |
OMIM:613792 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth |
ORPHA:63442 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia, Dolichocephaly, Frontal bossing |
OMIM:190320 |
| Arthrogryposis, Distal, Type 12 |
|
Low-set ears, Dental crowding, Cryptorchidism, High palate, Hydrocele testis, Agenesis of maxilla... |
OMIM:620545 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Ventriculomegaly, Cerebellar hypoplasia, Agenesis of corpus callosum |
ORPHA:171703 |
| Pierpont Syndrome |
|
Broad nasal tip, Chiari malformation, Hearing impairment, Widely spaced teeth, Large fleshy ears,... |
OMIM:602342 |
| 20P13 Microdeletion Syndrome |
|
Low-set ears, Hypoplastic helices, Prominent nasal bridge, Tented upper lip vermilion, Thin upper... |
ORPHA:313781 |
| 8Q22.1 Microdeletion Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal ridge... |
ORPHA:178303 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
| Opitz Gbbb Syndrome |
|
Wide nasal bridge, Low-set ears, Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, An... |
OMIM:300000 |
| Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Dysplastic corpus callosum, Hydroc... |
OMIM:604213 |
| 17P13.3 Microduplication Syndrome |
|
Low-set ears, Ventriculomegaly, Narrow mouth, High palate, Frontal bossing, Short nose, Wide nose |
ORPHA:217385 |
| Ritscher-Schinzel Syndrome 3 |
|
Anteverted nares, Micrognathia, Death in infancy, Thin upper lip vermilion, Wide anterior fontanel |
OMIM:619135 |
| Coffin-Siris Syndrome 6 |
|
High, narrow palate, Depressed nasal bridge, Low-set ears, Broad nasal tip, Conductive hearing im... |
OMIM:617808 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dent... |
OMIM:257850 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Low-set ears, Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Pos... |
OMIM:618506 |
| Otosclerosis 4 |
|
Mixed hearing impairment, Otosclerosis |
OMIM:611571 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Facial wrinkling, Micrognathia, Sensorineural hearing impairment, ... |
OMIM:305450 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Abnormal dental enamel morphology, Bulbo... |
ORPHA:2180 |
| Acrofrontofacionasal Dysostosis 2 |
|
Low-set ears, Overfolded helix, High palate, Posteriorly rotated ears, Wide anterior fontanel, Wi... |
OMIM:239710 |
| Aarskog-Scott Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Genu recurvatum, Dela... |
ORPHA:915 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft... |
OMIM:602483 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Prominent nasal bridge, Sensorineural heari... |
ORPHA:71267 |
| Gapo Syndrome |
|
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver... |
OMIM:230740 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Short philtrum, Premature l... |
OMIM:156510 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Depressed nasal bridge, Widely spaced teeth, Mild hea... |
ORPHA:459061 |
| 48,Xxyy Syndrome |
|
Broad jaw, Ventriculomegaly, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion,... |
ORPHA:10 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma... |
ORPHA:2521 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia, Macrotia |
ORPHA:93950 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Wide nasal bridge, Bifid uvula, Ventriculomegaly, Hearing impairment, Cleft upper lip, Bulbous no... |
OMIM:300958 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Macrotia, Dilated fou... |
ORPHA:3078 |
| Acromelic Frontonasal Dysplasia |
|
Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Retrocerebellar cyst, Hypopituitarism, Thick ... |
ORPHA:1827 |
| Meckel Syndrome, Type 10 |
|
Bifid uvula, Occipital encephalocele, Frontal bossing, Dilated fourth ventricle, Anencephaly, Cer... |
OMIM:614175 |
| Fetal Akinesia Deformation Sequence 4 |
|
Wide nasal bridge, Low-set ears, Retrognathia, Micrognathia, Prenatal death, Neonatal death, High... |
OMIM:618393 |
| Cebalid Syndrome |
|
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Plagiocephaly, Platystencephaly, Hea... |
OMIM:618774 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick lower lip vermilion, Thick upper lip vermilion, Wide mouth, Brachycephaly, Mandibular progn... |
OMIM:309545 |
| Liang-Wang Syndrome |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... |
OMIM:618729 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, L... |
OMIM:207410 |
| Potocki-Shaffer Syndrome |
|
Broad nasal tip, Downturned corners of mouth, Parietal foramina, Underdeveloped nasal alae, Depre... |
ORPHA:52022 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Tooth malposition, Ventriculomegaly, Plagiocephaly, Agenesis of corpus callosum, Brachycephaly, H... |
OMIM:618603 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Wide nasal bridge, Abnormality of the dentition, Conductive hearing impairment, Joint dislocation... |
ORPHA:502 |
| 20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth... |
ORPHA:261295 |
| 14Q11.2 Microdeletion Syndrome |
|
Depressed nasal bridge, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Narrow mo... |
ORPHA:261120 |
| Nance-Horan Syndrome |
|
Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Protruding ear, Supernumera... |
ORPHA:627 |
| 6Q25 Microdeletion Syndrome |
|
Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Long philtrum, Low-set, posteriorly rotated e... |
ORPHA:251056 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Long philtrum, Sensorineural hearing impairment, Osteoarthritis, Short... |
ORPHA:90653 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal oral mucosa morphology, Low-set ears, Hypoplasia of the premaxilla, Atresia of the exter... |
ORPHA:2673 |
| Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... |
OMIM:601216 |
| Cleidocranial Dysplasia |
|
Carious teeth, Hearing impairment, Open bite, Micrognathia, Large fontanelles, Genu valgum, Chron... |
ORPHA:1452 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... |
OMIM:620315 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Wide nasal bridge, Plagiocephaly, Broad nasal tip, Hypoplasia of the pons, Long philtrum, Hearing... |
OMIM:300749 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormality of the dentition, Periodontitis, Hearing impairment, Hydrocephalus, Gingivitis |
ORPHA:1008 |
| Carey-Fineman-Ziter Syndrome 2 |
|
High, narrow palate, Low-set ears, Dental crowding, Velopharyngeal insufficiency, Downturned corn... |
OMIM:619941 |
| Ritscher-Schinzel Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micr... |
OMIM:220210 |
| Pontocerebellar Hypoplasia, Type 3 |
|
High, narrow palate, Depressed nasal bridge, Low-set ears, Cerebellar atrophy, Hypoplasia of the ... |
OMIM:608027 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding... |
OMIM:123500 |
| Raine Syndrome |
|
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, High pa... |
OMIM:259775 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Jaundice, U-Shaped upper lip vermilion, Death in infancy |
OMIM:129850 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Narrow mouth, Cryptorchidism, Macrotia, Cloverleaf skull, Cho... |
ORPHA:1555 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High, narrow palate, Low-set ears, Abnormal helix morphology, Hearing impairment, Anteverted nare... |
OMIM:214100 |
| Laron Syndrome |
|
Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in... |
ORPHA:633 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Ventriculomegaly, Micrognathia, Narrow mouth, Abnormal palate morphology, Death in infancy, Protr... |
ORPHA:1495 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia, Dislocated radial head |
ORPHA:2975 |
| Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate |
ORPHA:3448 |
| Apert Syndrome |
|
Chiari malformation, Agenesis of corpus callosum, Sensorineural hearing impairment, Cloverleaf sk... |
ORPHA:87 |
| Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... |
OMIM:241310 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Low-set ears, Unilateral cleft lip, Bulbous nose, Micrognathia, Malar flatte... |
ORPHA:1787 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Protruding ear |
OMIM:618302 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Snijders Blok-Campeau Syndrome |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Widely spaced teeth, Umbilical hernia, Promine... |
OMIM:618205 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Hearing impairment, Micrognathia, Cleft soft palate, Cryptorchidism, Sensorineural hearing impair... |
OMIM:616331 |
| Cerebrooculonasal Syndrome |
|
Low-set ears, Encephalocele, High palate, U-Shaped upper lip vermilion, Short nose, Cerebellar ve... |
OMIM:605627 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Depressed nasal bridge, Cleft lip, Natal tooth, Large posterior fontanelle, Hamarto... |
OMIM:617925 |
| Saul-Wilson Syndrome |
|
Hearing impairment, Progeroid facial appearance, Narrow nasal bridge, Micrognathia, Sensorineural... |
OMIM:618150 |
| Perlman Syndrome |
|
High, narrow palate, Wide nasal bridge, Low-set ears, Retrognathia, Abnormal pancreas morphology,... |
ORPHA:2849 |
| Zimmermann-Laband Syndrome |
|
Bifid uvula, Large fleshy ears, Bulbous nose, Micrognathia, Wide mouth, Supernumerary tooth, Sens... |
ORPHA:3473 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Hearing impairment,... |
OMIM:613849 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Holoprosencephaly 7 |
|
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft... |
OMIM:610828 |
| Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Retrognathia, Cleft palate, Camptodactyly of finger |
OMIM:249710 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Congenital hip dislocation, Hearing impairment, Long philtrum, Delayed cranial suture closure, Pe... |
ORPHA:357058 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Depressed nasal bridge, Anteverted nares, Apnea, Large fontanelles, Wide anterior fontanel |
OMIM:614883 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Chiari malformation, Atresia of the external auditory canal, Narrow mouth, Agenesis ... |
OMIM:123790 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Abnormality of the ear, Hydrocephalus |
OMIM:600257 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Low-set ears, Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Depressed na... |
ORPHA:228390 |
| Restrictive Dermopathy 2 |
|
Hypoplastic facial bones, Microretrognathia, Respiratory distress, Cyanosis, Convex nasal ridge, ... |
OMIM:619793 |
| Dubowitz Syndrome |
|
Abnormality of the dentition, Anal stenosis, Depressed nasal bridge, Delayed eruption of teeth, H... |
ORPHA:235 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Umbilical hernia, Anteverted nares, Micr... |
OMIM:615834 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Macroglossia, Wormian bones, Delayed eruption of teeth |
OMIM:614450 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micrognathia, Malar flattening, Abnormal antihelix morphology, Turricephaly, Brachycephaly, Conve... |
ORPHA:2145 |
| Odontochondrodysplasia |
|
Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Respi... |
ORPHA:166272 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Low-set ears, Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:363417 |
| Smith-Magenis Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Corticospinal tract hypoplasia, Cond... |
ORPHA:819 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Increased CSF protein concentration, Hypoplasia of the maxilla, Ventriculomega... |
OMIM:218000 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Micrognathia, Death in infancy, Cerebellar hypoplasia, Thin upper lip vermi... |
OMIM:615042 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Hypoplasia of the pons, Dil... |
ORPHA:370959 |
| Recombinant Chromosome 8 Syndrome |
|
Low-set ears, Abnormality of the dentition, Ventriculomegaly, Depressed nasal bridge, Downturned ... |
OMIM:179613 |
| Asparagine Synthetase Deficiency |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, ... |
OMIM:615574 |
| Cofs Syndrome |
|
Wide nasal bridge, Camptodactyly of finger, Micrognathia, Death in infancy, Sensorineural hearing... |
ORPHA:1466 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Low-set ears, Depressed nasal ridge, Plagiocephaly, Conductive hearing impairment, Downturned cor... |
OMIM:618672 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Donnai-Barrow Syndrome |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Intestinal malrotation... |
OMIM:222448 |
| Monosomy 18P |
|
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Macrotia, Micro... |
ORPHA:1598 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate |
OMIM:258320 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, High palate, Prominent nasal bridge, Mandibular prognathia |
OMIM:300676 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Hydrocephalus, Cutis marmorata |
OMIM:615937 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Protruding ear, Short philtrum, Mandibular prognathia, Cleft palate, Prominent metopic ridge |
ORPHA:85317 |
| Agnathia-Otocephaly Complex |
|
Low-set ears, Microglossia, Conductive hearing impairment, Respiratory distress, Aglossia, Microg... |
OMIM:202650 |
| Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Microretrognathia, Dilated fourth ventricle, Agen... |
ORPHA:171680 |
| Neuralgic Amyotrophy |
|
Bifid uvula, Acrocyanosis, Narrow mouth, Cleft palate |
ORPHA:2901 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, High palate, Short nose |
OMIM:300577 |
| Temple Syndrome |
|
Bifid uvula, Depressed nasal bridge, Recurrent otitis media, Decreased testicular size, Anteverte... |
OMIM:616222 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Hearing impairment, Thickened calvaria, Brachycephaly, Craniosynostosis |
ORPHA:178377 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Abnormal temper tantrums, Congenital hip dislocation, Long philtrum, Submucous clef... |
ORPHA:457279 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Dental crowding, Downturned corners of m... |
OMIM:615761 |
| Zaki Syndrome |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Cupped ear, Median pseudocleft lip, Dilated four... |
OMIM:619648 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Wide nasal bridge, Hydranencephaly, Microretrognathia, Dilated third ventricle, Lateral ventricle... |
OMIM:620371 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Hyperactivity, Crowded maxillary incisors |
ORPHA:397973 |
| 3Mc Syndrome 2 |
|
Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Hearing impairment, Depressed na... |
OMIM:265050 |
| Orofaciodigital Syndrome Iii |
|
Low-set ears, Bifid uvula, Bulbous nose, Microdontia, Bifid tongue, Supernumerary tooth, Tongue n... |
OMIM:258850 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Retrognathia, Long philtrum, Hearing impairmen... |
OMIM:617452 |
| Acrootoocular Syndrome |
|
High, narrow palate, Wide nasal base, Low-set ears, Dental malocclusion, Delayed eruption of teet... |
ORPHA:2980 |
| Aminopterin Syndrome Sine Aminopterin |
|
Low-set ears, Umbilical hernia, Micrognathia, Cryptorchidism, Oligodontia, Brachycephaly, Posteri... |
OMIM:600325 |
| Craniosynostosis 3 |
|
Dental malocclusion, Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis... |
OMIM:615314 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Depressed nasal bridge, Low-set ears, Dilated third ventricle, Lateral ventr... |
OMIM:619575 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Retrognathia, Skull asymmetry, Umbilical hernia, Anteverted nares, Cutis marmorata, ... |
OMIM:612938 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Plagiocephaly, Low-set ears, S... |
OMIM:619383 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Hearing impairment, Thick lower lip vermilion, Macrotia, Low-set, posteriorly rota... |
ORPHA:2701 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Low-set ears, Notched primary central incisor |
OMIM:620062 |
| Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Ventriculomegaly, Abnormality of the outer ear, ... |
OMIM:182290 |
| Mpdu1-Cdg |
|
Thin vermilion border, Absence of acoustic reflex, Wide anterior fontanel, Prominent frontal sinuses |
ORPHA:79323 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Low-set ears, Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Volvulus, Bilateral... |
OMIM:617802 |
| Even-Plus Syndrome |
|
Depressed nasal ridge, Bifid nasal tip, Agenesis of corpus callosum, Dysplastic corpus callosum, ... |
OMIM:616854 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Dental crowding, Recurrent upper respirato... |
ORPHA:293939 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Talon cusp, Bilat... |
OMIM:605282 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Cerebellar atrophy, Long philtrum, Macrotia, Thin upper lip vermilion, Sm... |
ORPHA:438178 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent antihelix, Retrognathia, Lateral ventricle dilatation, Broad columella, Thick nasal ala... |
ORPHA:293725 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia |
ORPHA:1264 |
| Acrofacial Dysostosis, Weyers Type |
|
Tessier cleft, Abnormality of the dentition, Conical tooth, Abnormal antihelix morphology, Solita... |
ORPHA:952 |
| Primary Pulmonary Hypoplasia |
|
Low-set ears, Patellar hypoplasia, Micrognathia, Apnea, Cyanosis, Tachypnea, Hypoxemia, Cleft palate |
ORPHA:2257 |
| Craniofacial Microsomia 2 |
|
Bifid uvula, Microtia, first degree, Microtia, second degree, Microtia, third degree, Micrognathi... |
OMIM:620444 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Coffin-Siris Syndrome 2 |
|
Depressed nasal bridge, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Hear... |
OMIM:614607 |
| Trisomy 4P |
|
Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Low... |
ORPHA:1738 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Livedo, Facial telangiectasia, Telangiectasia, Conical incisor, Enamel hypoplasia,... |
OMIM:614564 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Frank-Ter Haar Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Genu recurvatum, Delayed erupti... |
ORPHA:137834 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Conductive hearing impairment, Abnorm... |
ORPHA:1307 |
| Dysostosis, Stanescu Type |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... |
ORPHA:1798 |
| Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the premax... |
ORPHA:1106 |
| Polyrrhinia |
|
Abnormal external nose morphology, Lateral ventricle dilatation, Supernumerary naris, Orofacial c... |
ORPHA:141091 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Low-set ears, Downturned corners of mouth... |
ORPHA:404440 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Abnormality ... |
ORPHA:438216 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... |
OMIM:304050 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Broad nasal tip, Genu valgum, Micrognathia, Knee flexion contracture, Cleft hard palate, Dislocat... |
ORPHA:166016 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Sensorineural hearing impairment, Short nose, Pos... |
ORPHA:2143 |
| Peho-Like Syndrome |
|
Ventriculomegaly, Cerebellar atrophy, Retrognathia, Open mouth, Short nose |
OMIM:617507 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Immunodeficiency 33 |
|
Hypodontia, Conical tooth, Delayed eruption of teeth |
OMIM:300636 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Bifid uvula, Wide nasal bridge, Low-set ears, Conductive hearing impairment,... |
ORPHA:2780 |
| Potocki-Shaffer Syndrome |
|
Wide nasal bridge, Downturned corners of mouth, Parietal foramina, Underdeveloped nasal alae, Tur... |
OMIM:601224 |
| German Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Micrognathia, Open mouth, Cryptorchidism, Hearing abno... |
ORPHA:2077 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Fragile skin, Oral mucosal blisters |
ORPHA:79406 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... |
ORPHA:2919 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Wide nasal bridge, Depressed nasal ridge, Facial hyperostosis, Nasal congestion, Delayed eruption... |
OMIM:218400 |
| Frank-Ter Haar Syndrome |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Dental malocclusion, Delayed cranial sutur... |
OMIM:249420 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Recurre... |
OMIM:619995 |
| Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Pointed chin, Scaphocephaly, Dolichocephaly, Hydrocephalus, Celiac disease, Mandibular prognathia |
OMIM:248000 |
| Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio... |
OMIM:617616 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Broad nasal tip, Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathia, Thin... |
OMIM:618548 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, W... |
ORPHA:50814 |
| Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Abnormal dental enamel morphology, Anteverted nares, Prominent occi... |
ORPHA:1515 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Abnormal cerebellar vermis morphology, Hydrocephalus |
ORPHA:2703 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Depressed nasal ridge, Delayed eruption of teeth |
ORPHA:1816 |
| Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft pa... |
OMIM:614120 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Wide nasal bridge, Low-set ears, Wide anterior fontanel |
OMIM:614859 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Low-set ears, Macrotia, Micrognathia, Cryptorchidism, Thin upper lip vermilion, Smooth philtrum, ... |
OMIM:615419 |
| Developmental And Epileptic Encephalopathy 36 |
|
Low-set ears, Anteverted nares, Microretrognathia, Hydrocephalus |
OMIM:300884 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Dilated third ventricle, Plagiocephaly, Hearing impairment, Cryptorchidism, Bra... |
ORPHA:500055 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Generalized abnormality of skin, Carious teeth, Fragile skin, Oral mucosal blisters |
ORPHA:79411 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Brachycephaly, Ventriculomegaly, Agenesis of corpus callosum |
OMIM:620200 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Plagiocephaly, Low-set ears, Do... |
ORPHA:369891 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose |
OMIM:155050 |
| Pfeiffer Syndrome Type 2 |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Chiari malformation, Atresia of the extern... |
ORPHA:93259 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Low-set ears, Depressed nasal bridge, Long philtrum, Anteverted nares, Tented upper lip vermilion... |
OMIM:620001 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Low-set ears, Micrognathia, Short lingual frenulum, Short hard palate, High palate, Dislocated ra... |
OMIM:180700 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors... |
OMIM:610706 |
| Mend Syndrome |
|
Asymmetry of the mouth, Low-set ears, Abnormal auditory evoked potentials, Micrognathia, Prominen... |
ORPHA:401973 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Low-set ears, Depressed nasal bridge, Bilateral cryptorchidism, Thin upper lip vermilion, Brachyc... |
ORPHA:314575 |
| Branchiogenic-Deafness Syndrome |
|
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Submucous cleft hard p... |
OMIM:609166 |
| Osteoglosphonic Dysplasia |
|
Choanal atresia, Tooth agenesis, Anteverted nares, Micrognathia, Protruding ear, Multiple unerupt... |
ORPHA:2645 |
| Pycnodysostosis |
|
Carious teeth, Persistent open anterior fontanelle, Persistence of primary teeth, Micrognathia, P... |
OMIM:265800 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Aplasia/Hypoplasia involving the nose, Respiratory distress, Low-set, posteriorly r... |
ORPHA:990 |
| Coffin-Siris Syndrome 11 |
|
Bifid uvula, Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Cleft soft palate... |
OMIM:618779 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermili... |
ORPHA:364028 |
| Phosphoserine Aminotransferase Deficiency |
|
Cerebellar vermis hypoplasia, Decreased CSF glycine concentration, Decreased CSF serine concentra... |
OMIM:610992 |
| Nance-Horan Syndrome |
|
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... |
OMIM:302350 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Wide nasal bridge, Abnormality of the dentition, Low-set ears, Broad nasal tip, Long philtrum, An... |
OMIM:618529 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Abnormal palate morphology, Round ear, Frontal bossing, Short nose |
ORPHA:1450 |
| Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Coro... |
ORPHA:763 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hearing impairment, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Agenesis of co... |
OMIM:619148 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Long philtrum, Open mouth, Thin upper lip vermilion, Smooth philtrum, Wid... |
OMIM:616638 |
| Fetal Trimethadione Syndrome |
|
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Micrognathia, Brachycephaly, Ove... |
ORPHA:1913 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Depressed nasal ridge, Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Evert... |
ORPHA:181 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia |
OMIM:601809 |
| Pfeiffer Syndrome |
|
Coronal craniosynostosis, Hypoplasia of the maxilla, Choanal atresia, Chiari malformation, Dental... |
OMIM:101600 |
| Acalvaria |
|
Calvarial skull defect, Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holopr... |
ORPHA:945 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Hyperplasia of the maxilla |
OMIM:613671 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Overhanging nasal tip, Short phi... |
OMIM:619142 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Low-set ears, Depressed nasal bridge, Natal tooth, Micrognathia, Death in childhood, Death in inf... |
OMIM:616901 |
| Toriello-Carey Syndrome |
|
Low-set ears, Hearing impairment, Anteriorly placed anus, Anotia, Micrognathia, Abnormal palate m... |
ORPHA:3338 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
| Rapp-Hodgkin Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... |
OMIM:129400 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Dislocated radial... |
OMIM:268310 |
| Distal Deletion 12Q |
|
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Micrognathia, Obsessi... |
ORPHA:96149 |
| Nager Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impairment, Atresia of the e... |
ORPHA:245 |
| Momo Syndrome |
|
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... |
OMIM:157980 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Wide nasal bridge, Low-set ears, Hearing impairment, Recurrent otitis media, Bulbous nose, Anteve... |
OMIM:613604 |
| Craniosynostosis 6 |
|
Plagiocephaly, Cerebellar atrophy, Lateral ventricle dilatation, Parietal foramina, Right unilamb... |
OMIM:616602 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:615938 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormal dental morphology |
ORPHA:1653 |
| Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
| Lessel-Kreienkamp Syndrome |
|
Wide nasal bridge, Hypoplastic helices, Dental malocclusion, Hearing impairment, Open mouth, Thin... |
OMIM:619149 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
| Keipert Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... |
ORPHA:2662 |
| Temple-Baraitser Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Everted upper lip vermilion... |
ORPHA:420561 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Dental crowding, Cleft upper lip, Umbilical hernia, Abnorma... |
OMIM:612582 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Hearing impairment, Recurrent otiti... |
OMIM:602849 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Partial agenesis of the corpus callosum,... |
OMIM:304100 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Prominent nose, Aggressive behavior, Hyperactivity, Anteverted ears, Motor s... |
OMIM:615541 |
| Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Micrognathia, Malar flattening, Cleft palate, Abnormality of the ear |
OMIM:183700 |
| Pineocytoma |
|
Increased CSF protein concentration, Hearing abnormality, Hydrocephalus |
ORPHA:251912 |
| Coffin-Siris Syndrome 3 |
|
Depressed nasal bridge, Hearing impairment, Long philtrum, Umbilical hernia, Delayed eruption of ... |
OMIM:614608 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nasal bridge, Abnormal calvaria morphology, Low-set ears, Microretrognathia, Cerebellar atro... |
ORPHA:89844 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Head-banging, Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed erup... |
OMIM:619356 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Carious teeth, Generalized hypoplasia of dental enamel, Large fleshy ears, Prominent nose, Hip di... |
OMIM:203550 |
| Acrocraniofacial Dysostosis |
|
Choanal atresia, Abnormality of the middle ear ossicles, Abnormality of the incus, Conductive hea... |
ORPHA:949 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Edinburgh Malformation Syndrome |
|
Low-set ears, Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narro... |
ORPHA:1895 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Progeroid facial appearance, ... |
OMIM:608154 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Abnormality of the dentition, Long philtrum, Camptodactyly of finger, Bulbous nose, Micrognathia,... |
ORPHA:77258 |
| Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Elbow dislocation, Knee dislocation, Micrognat... |
OMIM:108721 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Recurrent otitis media, Micrognathia, Cyanosis, Thin upper lip vermilion, Prot... |
ORPHA:3304 |
| Hypophosphatasia, Childhood |
|
Craniosynostosis, Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip, Delayed cranial suture closure, Narrow nasal bridge, Abnormality of the wri... |
ORPHA:2511 |
| Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Fragile skin, Oral mucosal blisters |
ORPHA:79405 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Restlessness |
OMIM:300266 |
| Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Knee flexion contracture, Cyanot... |
ORPHA:284417 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Microretrognathia, Hearing impairment, Tooth agenesis, Knee dislocation, Micrognat... |
OMIM:618363 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Partial agenesis of the corpus callosum |
OMIM:615771 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Hearing impairment, Cryptorchidism, Agenesis of corpus callosum, Chr... |
OMIM:101200 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Carious teeth, Premature loss of primary teeth, Premature eruption ... |
ORPHA:1811 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Dental crowding, Long philtrum, Underdeveloped nasal alae, Bulbous nose, Pear-shaped nose, Thin u... |
OMIM:190351 |
| Oculofaciocardiodental Syndrome |
|
Tooth malposition, Abnormality of the dentition, Bifid nasal tip, Delayed eruption of teeth, Long... |
ORPHA:2712 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Low-set ears, Ventriculomegaly, Retrognathia, Long philtrum, Hearing impairment, Aplasia/Hypoplas... |
ORPHA:505237 |
| Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... |
OMIM:248390 |
| Distal Duplication 18Q |
|
Choanal atresia, Carious teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, An... |
ORPHA:1716 |
| Hydrolethalus |
|
Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Low-set, posterior... |
ORPHA:2189 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1072 |
| Sulfite Oxidase Deficiency, Isolated |
|
Death in infancy, Delayed eruption of teeth, Agitation, Macrotia |
OMIM:272300 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Hip subluxa... |
OMIM:268305 |
| Microphthalmia, Syndromic 12 |
|
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Neonatal ... |
OMIM:615524 |
| Frontonasal Dysplasia 2 |
|
Low-set ears, Tessier number 13 facial cleft, Encephalocele, Aplasia of the nasal bone, Cerebella... |
OMIM:613451 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Macrotia, Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin u... |
OMIM:300558 |
| Wrinkly Skin Syndrome |
|
Wide nasal bridge, Low-set ears, Congenital hip dislocation, Carious teeth, Microretrognathia, De... |
OMIM:278250 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Low-set ears, Depressed nasal bridge, Retrognathia, Dimple chin, Micrognathia, Agenesis of corpus... |
OMIM:618142 |
| Isolated Cleft Lip |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Supernumerary maxillary incisor, Mac... |
ORPHA:199302 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Bifid uvula, Abnormality of the crus of the helix, Microglossia, Dent... |
ORPHA:137888 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Ventriculomegaly, Broad nasal tip, Retrognathia, Frontal bossing, Scaphocephaly, Dolichocephaly, ... |
OMIM:615637 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Concave nasal ridge, Dentinogenesis imperfecta, Wormian bones |
ORPHA:166277 |
| Birk-Barel Syndrome |
|
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... |
OMIM:612292 |
| Cerebrooculonasal Syndrome |
|
Tessier cleft, Long philtrum, Widely spaced teeth, Low-set, posteriorly rotated ears, Microdontia... |
ORPHA:66625 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cleft soft palate, Micrognathia, Death in infancy... |
ORPHA:99742 |
| Glutamine Deficiency, Congenital |
|
Wide nasal bridge, Depressed nasal bridge, Erythema, Low-set ears, Lateral ventricle dilatation, ... |
OMIM:610015 |
| Fibrochondrogenesis |
|
Low-set ears, Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Narrow mouth, He... |
ORPHA:2021 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Joint dislocation, Abnormal mandible morphology, Camptodactyly of finger, Su... |
ORPHA:3201 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Hypodontia, Enamel hypoplasia, Dysph... |
OMIM:616029 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Low-set ears, Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Umbilical hernia, Microgn... |
OMIM:613544 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Micrognathia, Brachycephaly, Spina bifida occulta, Short nose |
ORPHA:1514 |
| Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Hearing impairment, ... |
OMIM:620157 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Retrognathia, Hypoplasia of the zygomatic... |
ORPHA:1812 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Radioulnar s... |
ORPHA:798 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Cree Impaired Intellectual Development Syndrome |
|
Low-set ears, Micrognathia, Cleft soft palate, Large fontanelles, Posteriorly rotated ears |
OMIM:606851 |
| Cohen Syndrome |
|
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... |
OMIM:216550 |
| Muenke Syndrome |
|
High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Malar flattening, Sensorineural hea... |
ORPHA:53271 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micro... |
OMIM:309520 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Carious teeth, Genu varum |
ORPHA:2501 |
| Bifid Uvula |
|
Bifid uvula, Cleft lip, Submucous cleft soft palate |
ORPHA:99771 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Wide nasal base, Dental crowding, Delayed eruption of teeth, Long philtrum, Hearing impairment, B... |
OMIM:616354 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
OMIM:613154 |
| Orofaciodigital Syndrome I |
|
Low-set ears, Carious teeth, Hearing impairment, Ankyloglossia, Ovarian cyst, Agenesis of corpus ... |
OMIM:311200 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Transaldolase Deficiency |
|
Low-set ears, Depressed nasal bridge, Telangiectasia, Deep philtrum, Thin vermilion border, Short... |
OMIM:606003 |
| Baraitser-Winter Syndrome 1 |
|
Wide nasal bridge, Pointed chin, Ventriculomegaly, Low-set ears, Retrognathia, Long philtrum, Cle... |
OMIM:243310 |
| Meier-Gorlin Syndrome 5 |
|
Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Micrognathia, Patellar... |
OMIM:613805 |
| Developmental And Epileptic Encephalopathy 66 |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... |
OMIM:618067 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Restrictive Dermopathy 1 |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Natal tooth, Temporomandibular joint ankyl... |
OMIM:275210 |
| Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Hearing impa... |
ORPHA:782 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Ventriculomegaly, Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattenin... |
OMIM:109120 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Grant Syndrome |
|
Depressed nasal bridge, Joint dislocation, Open bite, Micrognathia, Large fontanelles, Abnormal p... |
ORPHA:2097 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Low-set ears, Abnormal helix morphology, Hearing impairment, Persistent open anterior fontanelle,... |
OMIM:614866 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Low-set ears, Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia... |
OMIM:614744 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Wide nasal bridge, Ventriculomegaly, Recurrent upper respiratory tract infec... |
OMIM:612513 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Wide nasal bridge, Prominent nose, Dolichocephaly, Narrow palate, Mandibular prognathia |
OMIM:617169 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Depressed nasal bridge, Joint contracture of the hand, Dental malocclusion, Delayed ... |
OMIM:612350 |
| Schilbach-Rott Syndrome |
|
Bifid uvula, Prominent nose, Micrognathia, Narrow mouth, Submucous cleft hard palate, Attention d... |
OMIM:164220 |
| D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Intestinal malrotation, Low-set, posteriorly rotated ears, Microgna... |
ORPHA:2166 |
| Ogden Syndrome |
|
Flared nostrils, Low-set ears, Everted upper lip vermilion, Large posterior fontanelle, Delayed c... |
OMIM:300855 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Low-set ears, Cupped ear, Lateral ventricle dilatation, Long philtrum, Anter... |
OMIM:612863 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Volvulus, Brachyturricephaly, Hearing impairment, Encephalocele, Agenesis of corpus... |
ORPHA:314621 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Low-set ears, Erythema, Carpal synostosis, Micrognathia, Narrow mout... |
OMIM:218600 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Narrow mouth, Cryptorchidism,... |
OMIM:617201 |
| Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect... |
OMIM:210900 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Bilateral elbow dis... |
OMIM:166300 |
| Turnpenny-Fry Syndrome |
|
Low-set ears, Abnormality of the dentition, Dental malocclusion, Downturned corners of mouth, Den... |
OMIM:618371 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
| Split Lower Lip |
|
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit |
OMIM:183400 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption |
OMIM:606893 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Broad columella, Widely spaced teeth, Stereo... |
OMIM:617865 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Death in infancy, Death in childhood, Wide anterior fontanel |
OMIM:619064 |
| Achondroplasia |
|
Depressed nasal bridge, Hip joint hypermobility, Hearing impairment, Functional abnormality of th... |
ORPHA:15 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| 49,Xxxxy Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Delayed eruption of teeth, Open bit... |
ORPHA:96264 |
| Chand Syndrome |
|
Depressed nasal bridge, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton... |
ORPHA:1401 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Thick lower lip vermilion, Frontal bossing, Tented upper lip vermilion, Brachycephaly, High palat... |
OMIM:615828 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Low-set ears, Plagiocephaly, Underdeveloped nasal alae,... |
ORPHA:77300 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Poor wound healing, Long philtrum, Narrow mouth, Protruding ear, Brachycephaly, ... |
OMIM:615539 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Downturned corners of mouth, Anteverted nares, Chiari type I malformation, Brachycephaly, Deep ph... |
OMIM:618859 |
| Chung-Jansen Syndrome |
|
Long philtrum, Macrotia, Large earlobe, Anteverted nares, Micrognathia, Cryptorchidism, Short phi... |
OMIM:617991 |
| Craniofrontonasal Dysplasia |
|
Wide nasal bridge, Abnormality of the dentition, Depressed nasal ridge, Plagiocephaly, Midline de... |
ORPHA:1520 |
| Codas Syndrome |
|
Depressed nasal bridge, Crumpled ear, Congenital hip dislocation, Delayed eruption of teeth, Abno... |
ORPHA:1458 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Abnormality of the wrist, Micrognathia, Abnormal palate morphology, Multiple uner... |
ORPHA:2063 |
| Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Long philtrum, Delayed cranial suture closure, Protrusio acetabuli, He... |
OMIM:610682 |
| Hypomandibular Faciocranial Dysostosis |
|
Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Anteverted nares, Na... |
ORPHA:1790 |
| Isolated Arrhinia |
|
Tessier cleft, Underdeveloped nasal alae, Respiratory distress, Midline defect of the nose, Aplas... |
ORPHA:1134 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Micrognathia, Malar flattening, Sensorineural hearing impairment, Osteoarthritis, ... |
ORPHA:166100 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Depressed nasal bridge, Abnormality of the outer ear, Downturned corners of ... |
ORPHA:435638 |
| Kleefstra Syndrome |
|
Hearing impairment, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Everted lo... |
ORPHA:261494 |
| Hao-Fountain Syndrome |
|
Low-set ears, Aggressive behavior, Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Low-set ears, Ventriculomegaly, Retrognathia, Long philtrum, Micrognathia, I... |
OMIM:620156 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, ... |
ORPHA:1133 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Low-set ears, Pointed chin, Ventriculomegaly, Plagiocephaly, Depressed nasal bridge, Short chin, ... |
OMIM:619188 |
| Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis... |
OMIM:601492 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Ventriculomegaly, Carious teeth, Cerebellar atrophy, Delayed eruption of teeth, Long philtrum, Pr... |
OMIM:214150 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Failure of eruption of perman... |
ORPHA:3238 |
| Distal 17P13.1 Microdeletion Syndrome |
|
Hypoplasia of the zygomatic bone, Retrognathia, Prominent nasal bridge, Increased overbite, Protr... |
ORPHA:319171 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Long philtrum, Anteverted nares, Microgna... |
OMIM:257300 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth, Macrotia |
OMIM:300934 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Dental crowding, Brachycephaly, Central apnea, Cerebellar atrophy |
ORPHA:320385 |
| Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Narrow mouth, Pat... |
OMIM:180849 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Unilateral cleft lip, Large fleshy ears, Antev... |
OMIM:616897 |
| X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Lateral ventricle dilatation, Brachycephaly, Thick vermilion border, Hydro... |
ORPHA:85290 |
| Cleidocranial Dysplasia 1 |
|
Absent paranasal sinuses, Hearing impairment, Micrognathia, Large fontanelles, Delayed eruption o... |
OMIM:119600 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Depressed nasal bridge, Abnormal helix morpholog... |
ORPHA:61 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Wide nasal bridge, Low-set ears, Abnormal pattern of respiration, Pursed lips, Long philtrum, Enl... |
ORPHA:562528 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Wide nasal bridge, Bifid uvula, Abnormality of the dentition, Ventriculomegaly, Choanal atresia, ... |
OMIM:300968 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Low-set ears, Depressed nasal ridge, Frontal bossing, Micrognathia, Death in infancy, Cerebellar ... |
ORPHA:163966 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Frontal bossing, Hearing impairmen... |
OMIM:620250 |
| Alg9-Cdg |
|
Low-set ears, Bifid uvula, Depressed nasal bridge, Microretrognathia, Long philtrum, Underdevelop... |
ORPHA:79328 |
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
High, narrow palate, Low-set ears, Long philtrum, Prominent nasal bridge, Metopic synostosis, Eve... |
OMIM:619880 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Wide nasal bridge, Cupped ear, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death ... |
ORPHA:93946 |
| Bent Bone Dysplasia Syndrome 1 |
|
Low-set ears, Coronal craniosynostosis, Natal tooth, Micrognathia, Gingival overgrowth, Malar fla... |
OMIM:614592 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Low-set ears, Congenital hip dislocation, Microretrognathia, Narrow jaw, Cyanosis, Sensorineural ... |
ORPHA:98914 |
| Al Kaissi Syndrome |
|
High, narrow palate, Pointed chin, Wide nasal bridge, Broad nasal tip, Depressed nasal bridge, Sh... |
OMIM:617694 |
| Congenital Myasthenic Syndrome |
|
Low-set ears, Congenital hip dislocation, Microretrognathia, Narrow jaw, Cyanosis, Sensorineural ... |
ORPHA:590 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Plagiocephaly, Broad nasal tip, Downturned corners of mouth, Cleft upper lip, ... |
OMIM:239300 |
| Ritscher-Schinzel Syndrome 4 |
|
Wide nasal bridge, Narrow palate, Plagiocephaly, Macrotia, Thick vermilion border, Cryptorchidism... |
OMIM:619435 |
| Fg Syndrome Type 1 |
|
Short chin, Facial wrinkling, Micrognathia, Open mouth, Cryptorchidism, Sensorineural hearing imp... |
ORPHA:93932 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Conical tooth, Carious teeth, Conductive hearing impairment, Bilateral cleft palate, Anal atresia |
ORPHA:1997 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the ma... |
ORPHA:313892 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Depressed nasal bridge, Carious teeth, Long philtrum, Large earlobe, Bulbous nose, Prominent nose... |
OMIM:620191 |
| Non-Distal Duplication 13Q |
|
Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Trigonocephaly, ... |
ORPHA:1702 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Premature graying of hair, Open bite, Low-set, posteriorly rotated ears, Congenita... |
ORPHA:2617 |
| Rhombencephalosynapsis |
|
Ventriculomegaly, Microretrognathia, Agenesis of cerebellar vermis, Fusion of the left and right ... |
ORPHA:59315 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o... |
OMIM:615706 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca... |
OMIM:610536 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo... |
ORPHA:228396 |
| Beemer Lethal Malformation Syndrome |
|
Wide nasal bridge, Hydrocephalus |
OMIM:209970 |
| Osteogenesis Imperfecta, Type Xx |
|
Low-set ears, Pointed chin, Crumpled ear, Plagiocephaly, Retrognathia, Agenesis of permanent teet... |
OMIM:618644 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Wide nasal bridge, Low-set ears, Hypoplasia of the zygomatic bone, Genu valgum, Large fontanelles... |
ORPHA:1778 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Marshall Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal bridg... |
ORPHA:560 |
| Hypoglossia With Situs Inversus |
|
Low-set ears, Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, High pa... |
OMIM:612776 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Short nose |
OMIM:613670 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Hypoplasia of the nasal bone, Sensorineural hearing impairment |
OMIM:606943 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
| Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge, Abnormal palate morphology |
ORPHA:1540 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Hearing impairment, Cleft upper lip, Malar flattening, Palmoplantar cutis laxa, Brachycephaly, Sp... |
OMIM:268850 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Abnormal upper ... |
ORPHA:2707 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Low-set ears, Ventriculomegaly, Microretrognathia, Downturned corners of mouth, Long philtrum, An... |
OMIM:301041 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Depressed nasal bridge, Widely spaced teeth, Anteverted nares, Premature loss of primary teeth, P... |
OMIM:617364 |
| Saethre-Chotzen Syndrome |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the maxilla, Conductive hearing impairment, H... |
ORPHA:794 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose |
ORPHA:1355 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Atresia of the external auditory canal, Wide anterior fontanel |
OMIM:601356 |
| Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Convex nasal ridge, High pala... |
OMIM:300963 |
| Fontaine Progeroid Syndrome |
|
Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Reduced subcutaneous adipose tissue,... |
OMIM:612289 |
| Marshall Syndrome |
|
Low-set ears, Bifid uvula, Macrodontia of permanent maxillary central incisor, Depressed nasal br... |
OMIM:154780 |
| Pfeiffer Syndrome Type 1 |
|
Low-set ears, Depressed nasal bridge, Hearing impairment, Bicoronal synostosis, Brachycephaly, Aq... |
ORPHA:93258 |
| Campomelic Dysplasia |
|
Low-set ears, Carious teeth, Hearing impairment, Contracture of the distal interphalangeal joint ... |
OMIM:114290 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Low-set ears, Depressed nasal bridge, Long philtrum, Cerebellar vermis atrophy, Micrognathia, Nar... |
OMIM:156610 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Wide nasal bridge, Downturned corners of mouth, Large fleshy ears, Thin upper lip vermilion, Cere... |
ORPHA:352530 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Increased CSF lactate |
OMIM:619054 |
| Hallermann-Streiff Syndrome |
|
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Telangiectasia, Everted lo... |
OMIM:234100 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Brachycephaly, Ventriculomegaly |
OMIM:300699 |
| Sotos Syndrome |
|
Low-set ears, Cryptorchidism, High palate, Macrotia, High, narrow palate, Pointed chin, Broad nas... |
OMIM:117550 |
| Acrocallosal Syndrome |
|
Wide anterior fontanel, Sensorineural hearing impairment |
ORPHA:36 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Wide anterior fontanel |
OMIM:617241 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Bulbous nose, Antever... |
ORPHA:481152 |
| Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Large earlobe, Tented upper lip... |
OMIM:615716 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Wide anterior fontanel |
OMIM:618240 |
| Frontofacionasal Dysplasia |
|
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, E... |
ORPHA:1791 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Wide nasal bridge, Spinal dysraphism, Low-set, posteriorly rotated ears, Micrognathia, Encephaloc... |
ORPHA:1908 |
| Bresek Syndrome |
|
Low-set ears, Plagiocephaly, Hearing impairment, Decreased testicular size, Cryptorchidism, Neona... |
ORPHA:85284 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Chopra-Amiel-Gordon Syndrome |
|
Flared nostrils, Cleft lip, Thick nasal alae, Thin upper lip vermilion, Smooth philtrum, Brachyce... |
OMIM:619504 |
| Antley-Bixler Syndrome |
|
Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Low-set, posteriorly rotated ea... |
ORPHA:83 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ventriculomegaly, Hydrocephalus |
OMIM:618709 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Low-set ears, Depressed nasal bridge, Delayed eruption of teeth, Short chin, Underdeveloped nasal... |
OMIM:615866 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Depressed nasal bridge, Hearing impairment, Recurrent otitis media, Respiratory distress, Neonata... |
OMIM:616482 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Craniosynostosis, Brachycephaly, Choanal atresia, Hydrocephalus |
OMIM:612247 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Prolonged neonatal jaundice, Wide anterior fontanel |
ORPHA:95715 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Narrow mouth, Sensorineural hearing impairment, Rect... |
OMIM:235510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Diastema, Furrowed tongu... |
OMIM:300534 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Wide nasal bridge, Low-set ears, Downturned corners of mouth, Long philtrum, Macrotia, Thick uppe... |
OMIM:619320 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Mandibular pro... |
ORPHA:2429 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Abnormality of the nose, Retrognathia, Low-set, posteriorly rotated ears, Malar fl... |
ORPHA:1390 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Pointed chin, Depressed nasal bridge, Hearing impairment, Bulbous nose, Prominent nasal bridge, S... |
OMIM:618828 |
| Marshall-Smith Syndrome |
|
Choanal atresia, Ventriculomegaly, Conductive hearing impairment, Retrognathia, Bruising suscepti... |
ORPHA:561 |
| Temple Syndrome |
|
Bifid uvula, Pointed chin, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:254516 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Sensorineural hearing impairment... |
ORPHA:192 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Micrognathia, Long philtrum, Short nose |
ORPHA:2598 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti... |
OMIM:619322 |
| Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta, Anterior radial head dislocation, Wormian bones, Limited pronation/sup... |
OMIM:610967 |
| Frontonasal Dysplasia 3 |
|
Tessier cleft, Wide nasal bridge, Low-set ears, Underdeveloped nasal alae, Brachycephaly, Posteri... |
OMIM:613456 |
| Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Abnormality of the middle e... |
ORPHA:861 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Downturned corners of mouth, Malar flattening, Ectopic anus, Short philtrum, Mandi... |
ORPHA:94066 |
| Chromosome 5P13 Duplication Syndrome |
|
Wide nasal bridge, Low-set ears, Downturned corners of mouth, Bulbous nose, Turricephaly, Agenesi... |
OMIM:613174 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Low-set ears, Long philtrum, Fusion of the left ... |
OMIM:619306 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Low-set ears, Retrognathia, Hearing impairment, Prominent nose, Median cleft... |
OMIM:617926 |
| Char Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Agenesis of permanent teeth, P... |
ORPHA:46627 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Hypoplasia of the pons, Lateral ventricle dilatation, Bicoronal syno... |
OMIM:618736 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Dental crowding, Hearing impair... |
OMIM:257920 |
| Treacher Collins Syndrome 2 |
|
Choanal atresia, Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of th... |
OMIM:613717 |
| Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Wormian bones, Wide anterior fontanel |
OMIM:610915 |
| Marshall-Smith Syndrome |
|
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Irregular dentition, D... |
OMIM:602535 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Microretrognathia, Plagiocephaly, Hypoplasia o... |
OMIM:613603 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Respiratory distress, Neonatal death, Jaundice, Abnormal pinna morphology... |
OMIM:231680 |
| Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Narrow mouth, Malar flattening, Death in childhood, Brachycephaly, Macrotia |
DECIPHER:45 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Depressed nasal bridge, Plagiocephaly, Frontal bossing, Bulbous nose, Open mouth, C... |
OMIM:616789 |
| 4H Leukodystrophy |
|
Dysphagia, Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Short chin, Hearing impairment, Microgna... |
OMIM:619833 |
| Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Smooth philtrum, Cleft soft palate, Esophageal atresia |
OMIM:614526 |
| Choanal Atresia |
|
Nasal congestion, Respiratory distress, Cyanosis, Chronic sinusitis, Craniosynostosis, Choking ep... |
ORPHA:137914 |
| Momo Syndrome |
|
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... |
ORPHA:2563 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Hearing impairment, Thick vermili... |
OMIM:620114 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Depressed nasal bridge, Hypoplasia of the maxilla, Coronal craniosyn... |
OMIM:201000 |
| Tarp Syndrome |
|
Wide nasal bridge, Small earlobe, Prominent antihelix, Hearing impairment, Low-set, posteriorly r... |
ORPHA:2886 |
| Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Brachycephaly, Bilateral sensorineural h... |
OMIM:264470 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Death in childhood, Enterocolitis |
OMIM:301108 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Brachycephaly, Tented upper lip vermilion, Lateral ventricle dilatation, Long philtrum |
OMIM:619972 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Frontal bos... |
ORPHA:439822 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Tessier cleft, Choanal atresia, Depressed nasal ridge, Low-set ears, Brachyt... |
OMIM:607597 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Ventriculomegaly, Plagiocephaly, Natal tooth, Hearing impairment, T... |
ORPHA:261652 |
| Frontometaphyseal Dysplasia 1 |
|
Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Sensorineural hear... |
OMIM:305620 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Depressed nasal bridge, Ventriculomegaly, Cerebellar atrophy, Respiratory distress, Increased CSF... |
OMIM:604377 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Retrocerebel... |
OMIM:614831 |
| Lethal Kniest-Like Dysplasia |
|
Low-set ears, Wide anterior fontanel, Cleft palate |
ORPHA:2347 |
| Eem Syndrome |
|
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... |
ORPHA:1897 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Low-set, posteriorl... |
ORPHA:1110 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea, Micrognathia, Short nose, Delayed cranial suture closure |
ORPHA:1129 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Pericardial effusion, Hypera... |
ORPHA:26793 |
| 19P13.12 Microdeletion Syndrome |
|
Low-set ears, Ventriculomegaly, Conductive hearing impairment, Long philtrum, Narrow nasal bridge... |
ORPHA:254346 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Wide nasal bridge, Conical tooth, Hearing impairment, Underdeveloped nasal alae, Widely spaced te... |
ORPHA:90024 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Broad columella, Thick lower lip vermilion, Prominent nasal bridge, Narrow mouth, ... |
ORPHA:457365 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Hearing impairment, Microdontia, Hyp... |
OMIM:601499 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Low-set ears, Plagiocephaly, Bulbous nose, Prominent nose, Anteverted nares, Open mouth, Prominen... |
OMIM:616801 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Low-set, posteriorly rotated ears,... |
ORPHA:220497 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Everted lower lip vermili... |
OMIM:620450 |
| Pfeiffer Syndrome Type 3 |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Chiari malformation, Brachyturricephaly, H... |
ORPHA:93260 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Pointed chin, Plagiocephaly, Downturned corners of mouth, Tooth agenesis, Macrodontia, Anteverted... |
OMIM:618731 |
| Flat Face-Microstomia-Ear Anomaly Syndrome |
|
High, narrow palate, Abnormal oral mucosa morphology, Wide nasal bridge, Aplasia/Hypoplasia of th... |
ORPHA:1968 |
| Stickler Syndrome, Type Ii |
|
High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar f... |
OMIM:604841 |
| Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Low-set ears, Short chin, Micrognathia, Open mouth, Everted lower lip vermilion, Short nose, Cere... |
OMIM:156200 |
| Meier-Gorlin Syndrome 7 |
|
Low-set ears, Choanal atresia, Anal stenosis, Hearing impairment, Anteriorly placed anus, Duodena... |
OMIM:617063 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Respiratory distress, Trigonocephaly, Micrognathia, Thin upper lip vermilion... |
ORPHA:329178 |
| Microphthalmia, Syndromic 8 |
|
Widely-spaced maxillary central incisors, Cleft upper lip, Premature skin wrinkling, Orofacial cl... |
OMIM:601349 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Mullegama-Klein-Martinez Syndrome |
|
Wide nasal bridge, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Depressed nas... |
OMIM:301022 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Purpura, Arthritis |
ORPHA:375 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Congenital stapes ankylosis, Conductive hearing impairment, Stapes ankylosis |
OMIM:184460 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
High, narrow palate, Depressed nasal bridge, Respiratory distress, Micrognathia, Pontocerebellar ... |
OMIM:608799 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Supernumerary tooth, Recurrent upper respiratory tract infections, Persistence of pr... |
OMIM:619752 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Low-set ears, Widely spaced teeth, Microg... |
OMIM:266920 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Irregular acetabular roof, Stenosis of the external auditory canal, Abnormality of the wrist, Cle... |
ORPHA:93316 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat... |
ORPHA:71212 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Progeroid facial appearance, Delayed cranial suture closure, Micrognathia, Narro... |
OMIM:608612 |
| Peters-Plus Syndrome |
|
Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Cryptorchidism, Agenesis ... |
OMIM:261540 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Three M Syndrome 2 |
|
Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Anteverted... |
OMIM:612921 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Wide nasal bridge, Multiple suture craniosynostosis, Broad secondary alveolar ridge, Small anteri... |
ORPHA:3369 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Wide nasal bridge, Abnormality of the dentition, Delayed eruption of teeth, Generalized abnormali... |
ORPHA:2314 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Wide nasal bridge, Bifid uvula, Plagiocephaly, Cupped ear, Downturned corners of mouth, Anteriorl... |
ORPHA:247262 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Prominent nose, Micrognathia, Malar flattening, Spina bifida occulta, Cleft palate |
OMIM:101805 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Conductive hea... |
ORPHA:2095 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Choanal atresia, Hearing impairment, Myelomeningocele, Anteverted nares, ... |
ORPHA:1914 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Cerebellar hypoplasia, Cerebellar vermis atrophy, Dilated fourth ventricle |
OMIM:213200 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low-set ears, Hypoplasia of the pons, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of cor... |
OMIM:619512 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Trisomy 12P |
|
Wide nasal bridge, Low-set ears, Downturned corners of mouth, Supernumerary nipple, Micrognathia,... |
ORPHA:1699 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... |
ORPHA:69087 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma... |
ORPHA:3236 |
| Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Dental crowding, Natal tooth... |
OMIM:145420 |
| Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Wide nose |
ORPHA:3074 |
| Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Lateral ventri... |
ORPHA:96148 |
| Warburg Micro Syndrome 3 |
|
Ventriculomegaly, Downturned corners of mouth, Macrotia, Decreased testicular size, Micrognathia,... |
OMIM:614222 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Low-set ears, Cupped ear |
OMIM:167730 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Low-set ears, Depressed nasal bridge, Mandibular prognathia, Head-banging, Unilateral cleft lip, ... |
OMIM:619103 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft lip, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cle... |
OMIM:619122 |
| 1Q44 Microdeletion Syndrome |
|
Ventriculomegaly, Frontal bossing, Intestinal malrotation, Micrognathia, Exaggerated cupid's bow,... |
ORPHA:238769 |
| Distal Deletion 3P |
|
Ventriculomegaly, Downturned corners of mouth, Long philtrum, Umbilical hernia, Hearing impairmen... |
ORPHA:1620 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Hypopituitarism, Anteverted nares, Malar flattening, Prolonged neonatal j... |
OMIM:613038 |
| Barber-Say Syndrome |
|
Low-set ears, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, High palate, Wide n... |
OMIM:209885 |
| Atelis Syndrome 1 |
|
Carious teeth, Long philtrum, Prominent nose, Glue ear, Attention deficit hyperactivity disorder,... |
OMIM:620184 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hyd... |
OMIM:619301 |
| Anencephaly 2 |
|
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Carious teeth, Widely spaced teeth, Resp... |
OMIM:617102 |
| Braddock-Carey Syndrome 2 |
|
Retrognathia, Hearing impairment, Atresia of the external auditory canal, Bulbous nose, Wide mout... |
OMIM:619981 |
| Ohdo Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Long philtrum, Widely spaced teeth... |
OMIM:249620 |
| Congenital Disorder Of Glycosylation, Type If |
|
Thin vermilion border, Death in infancy, Wide anterior fontanel |
OMIM:609180 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Bulbous nose, Sensorineural hearing impairment, Colpocephaly, Posteriorly rotat... |
ORPHA:2185 |
| 3C Syndrome |
|
High, narrow palate, Wide nasal bridge, Ventriculomegaly, Depressed nasal bridge, Low-set ears, I... |
ORPHA:7 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Abnormal antihelix morphology, ... |
ORPHA:261144 |
| 17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Thick nasal alae, Malar flattening, Bifid nose, Enamel hypopla... |
ORPHA:139474 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Low-set ears, Plagiocephaly, Lateral ventricle dilatation, Bulbous nose, Oligodontia, Thin upper ... |
OMIM:618330 |
| Desanto-Shinawi Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Hearing impairment, Bulbous nose, Sensorineu... |
OMIM:616708 |
| Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Short man... |
OMIM:141400 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia, Death in infancy, Pyloric stenosis |
OMIM:226700 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ... |
OMIM:101800 |
| 48,Xxxy Syndrome |
|
Depressed nasal ridge, Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental ename... |
ORPHA:96263 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Thin vermilion border, Short... |
ORPHA:261304 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Respiratory... |
OMIM:184260 |
| Emanuel Syndrome |
|
Low-set ears, Tooth malposition, Chiari malformation, Hearing impairment, Recurrent otitis media,... |
ORPHA:96170 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Impacted tooth, Protruding ear, Brachycephaly, Abno... |
ORPHA:236 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Hearing impairment, Persistence of primary teeth, Anteverted nares, Malar flattening... |
OMIM:610253 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Nablus Mask-Like Facial Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal bridg... |
OMIM:608156 |
| Desmosterolosis |
|
Low-set ears, Ventriculomegaly, Hypoplastic nasal bridge, Cupped ear, Anteverted nares, Micrognat... |
OMIM:602398 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Partial agen... |
OMIM:619302 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Ectodermal dysplasia, Delayed eruption of teeth |
OMIM:129550 |
| Band Heterotopia |
|
Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydro... |
OMIM:600348 |
| Hall-Riggs Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel... |
ORPHA:2107 |
| Femoral-Facial Syndrome |
|
Low-set ears, Ventriculomegaly, Long philtrum, Micrognathia, Cryptorchidism, Thin upper lip vermi... |
ORPHA:1988 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Erythema, Delayed eruption of teeth, Erosion of oral mucosa, Urticaria |
ORPHA:1656 |
| Waardenburg Syndrome Type 1 |
|
Wide nasal bridge, Hearing impairment, Cleft upper lip, Underdeveloped nasal alae, Premature gray... |
ORPHA:894 |
| Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Short nose, Cleft palate, Wide nose |
OMIM:614261 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Wormian bones, Hearing impairment |
OMIM:619795 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hydranencephaly, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplas... |
OMIM:225790 |
| Congenital Syphilis |
|
Hearing impairment, Hyperplasia of the maxilla, Petechiae, Prolonged neonatal jaundice, Rhinitis,... |
ORPHA:499009 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Premature Aging Syndrome, Penttinen Type |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Delayed cranial suture closur... |
OMIM:601812 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Low-set ears, Micrognathia, Open mouth, Narrow mouth, Agenesis of corpus callosum, Everted lower ... |
OMIM:619720 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Bulbous nose, Persistence of primary te... |
OMIM:170390 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Ventriculomegaly, Underdeveloped nasal alae, Macrotia, Micrognathia, Prominent nasal bridge, Cryp... |
ORPHA:2083 |
| Ear-Patella-Short Stature Syndrome |
|
Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ... |
ORPHA:2554 |
| Zechi-Ceide Syndrome |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Low-set ears, Cleft lip, Abnormal helix morpholo... |
ORPHA:217017 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Gingival... |
OMIM:212066 |
| Stickler Syndrome, Type I |
|
Bifid uvula, Depressed nasal bridge, Conductive hearing impairment, Anteverted nares, Micrognathi... |
OMIM:108300 |
| Trisomy 20P |
|
Micrognathia, Cryptorchidism, Abnormal antihelix morphology, Everted lower lip vermilion, Short n... |
ORPHA:261318 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone,... |
ORPHA:3253 |
| Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Depressed nasal bridge, Plagiocephaly, Short chin, Umbilical hernia, Bulbous... |
OMIM:613776 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
| Pseudodiastrophic Dysplasia |
|
Anteverted nares, Micrognathia, Malar flattening, Smooth philtrum, Brachycephaly, Frontal bossing |
OMIM:264180 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Low-set ears, Depressed nasal bridge, Recurrent upper respiratory tract infections, Short chin, R... |
OMIM:614069 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, High palate, Cleft palate |
OMIM:614399 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Dental crowding, Brachycephaly, Central apnea |
OMIM:615031 |
| Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
| Burn-Mckeown Syndrome |
|
Bifid uvula, Choanal atresia, Conductive hearing impairment, Bilateral choanal atresia, Cleft upp... |
OMIM:608572 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Elbow flexion c... |
OMIM:272430 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um... |
ORPHA:1488 |
| Desmosterolosis |
|
Low-set ears, Bifid uvula, Ventriculomegaly, Depressed nasal bridge, Retrognathia, Abnormality of... |
ORPHA:35107 |
| Isotretinoin Syndrome |
|
Depressed nasal bridge, Abnormality of the outer ear, Micrognathia, Spina bifida occulta, Cleft p... |
ORPHA:2305 |
| Acrodysostosis |
|
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Join... |
ORPHA:950 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari... |
OMIM:608670 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Stevenson-Carey Syndrome |
|
Low-set ears, Downturned corners of mouth, Underdeveloped nasal alae, Central hypoventilation, An... |
OMIM:611961 |
| Cleft Palate, Deafness, And Oligodontia |
|
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth, Bilateral conductiv... |
OMIM:216300 |
| 8Q12 Microduplication Syndrome |
|
Wide nasal bridge, Long philtrum, Narrow mouth, Sensorineural hearing impairment, Brachycephaly, ... |
ORPHA:228399 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocepha... |
ORPHA:1528 |
| Trisomy 1Q |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Microretrognathia, Abnormality of the out... |
ORPHA:261344 |
| 7Q31 Microdeletion Syndrome |
|
Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Long philtrum, Childhood onset... |
ORPHA:251061 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bruising susceptibility, Long philtrum, Bulbous nose, Malar flattening, Excessive wrinkled skin, ... |
OMIM:612940 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Broad nasal tip, Hypoplasia of the pons, Thick... |
OMIM:614969 |
| Branchioskeletogenital Syndrome |
|
Carious teeth, Pointed chin, Hypoplasia of the maxilla, Broad nasal tip, Downturned corners of mo... |
ORPHA:1299 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Large fontanelles, Kne... |
OMIM:222765 |
| Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Wormian bones |
OMIM:259440 |
| Alkuraya-Kucinskas Syndrome |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Cerebellar dysplasia, Ante... |
OMIM:617822 |
| Microform Holoprosencephaly |
|
Choanal atresia, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, Tented upper lip verm... |
ORPHA:280200 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Broad nasal tip, Thick vermilion border |
ORPHA:363523 |
| Acromelic Frontonasal Dysostosis |
|
Wide nasal bridge, Bifid nasal tip, Ventriculomegaly, Broad nasal tip, Retrocerebellar cyst, Pari... |
OMIM:603671 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Occipital encephalocele, Cerebellar malformation, Orofacial cleft, Hydrocephalus |
ORPHA:324416 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Widely spaced teeth, Anteverted nares, P... |
OMIM:300260 |
| Meier-Gorlin Syndrome 4 |
|
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia... |
OMIM:613804 |
| Rabin-Pappas Syndrome |
|
Wide nasal bridge, Pointed chin, Broad nasal tip, Conductive hearing impairment, Retrognathia, Hy... |
OMIM:620155 |
| Martsolf Syndrome 1 |
|
Low-set ears, Tooth malposition, Hypoplasia of the maxilla, Ventriculomegaly, Broad nasal tip, De... |
OMIM:212720 |
| Kleeblattschaedel |
|
Craniosynostosis, Hydrocephalus, Cloverleaf skull |
OMIM:148800 |
| Amelocerebrohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... |
ORPHA:1946 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Dental crowding, Tented upper lip vermilion, Open mouth, Uplifted earlobe, Macroorchidism, Mandib... |
OMIM:300143 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Plagiocephaly, Brachycephaly, Hydrocephalus, Dolichocephaly |
ORPHA:272 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth |
ORPHA:248 |
| 15Q Overgrowth Syndrome |
|
Low-set ears, Abnormality of the outer ear, Micrognathia, Agenesis of corpus callosum, High palat... |
ORPHA:314585 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Dental crowding, Conductive hearing impairment, Long philtrum, Anteverted nares, Th... |
OMIM:617877 |
| Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Abnormal calvaria morphology, Ventriculomegaly, Umbilical hernia, Trigonocepha... |
OMIM:175700 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impairm... |
OMIM:130720 |
| Bainbridge-Ropers Syndrome |
|
Low-set ears, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Short chin, Su... |
OMIM:615485 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Cryptorch... |
ORPHA:1926 |
| Myopathy, Centronuclear, X-Linked |
|
Dental malocclusion, Cryptorchidism, Hydrocephalus, Dolichocephaly, High palate, Dandy-Walker mal... |
OMIM:310400 |
| Flynn-Aird Syndrome |
|
Carious teeth, Progressive sensorineural hearing impairment |
OMIM:136300 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Smooth philtrum, Brachycephaly |
OMIM:620240 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Wide nasal bridge, Pointed chin, Ventriculomegaly, Extra-axial cerebrospinal fluid accumulation, ... |
OMIM:619179 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Depressed nasal bridge, Mandibular prognathia, Congenital hip dislocation, Prominent antihelix, D... |
OMIM:268400 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Wide nasal bridge, Choanal atresia, Low-set ears, Aplasia/Hypoplasia of the tongue, Abnormal lip ... |
ORPHA:2759 |
| Adams-Oliver Syndrome 2 |
|
Low-set ears, Depressed nasal bridge, Lateral ventricle dilatation, Bulbous nose, Cutis marmorata... |
OMIM:614219 |
| Pettigrew Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, High-frequency hearing impairment, Prominent nose... |
OMIM:304340 |
| Emanuel Syndrome |
|
Broad jaw, Low-set ears, Ventriculomegaly, Dental crowding, Hearing impairment, Long philtrum, Ma... |
OMIM:609029 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Neuromuscular dysphagia, Retrognathia, Sudden... |
ORPHA:466722 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Low-set ears, Abnormal earlobe morphology, Narrow mouth, Abnormal antihelix morphology, Humerorad... |
ORPHA:95699 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Low-set ears, Depressed nasal bridge, Plagiocephaly, Downturned corners of mouth, Bulbous nose, T... |
OMIM:618430 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Depressed nasal bridge, Respiratory distress, Anteverted nares, Apnea, Micrognathia... |
ORPHA:314655 |
| 19P13.13 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Macrotia, Anteverted nares, Narrow mouth, Malar flattening,... |
ORPHA:357001 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Wide nasal bridge, Anal stenosis, Ventriculomegaly, Plagiocephaly, Broad nasal tip, Hearing impai... |
OMIM:614749 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Congenital sensorineural ... |
ORPHA:73272 |
| Otopalatodigital Syndrome, Type I |
|
Wide nasal bridge, Capitate-hamate fusion, Conductive hearing impairment, Synostosis of carpal bo... |
OMIM:311300 |
| Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Low-set, posteriorly rotated ears,... |
ORPHA:220493 |
| Cerebrofacioarticular Syndrome |
|
Wide nasal bridge, Self-injurious behavior, Anal stenosis, Hypoplasia of the maxilla, Conductive ... |
ORPHA:314679 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Wide nasal bridge, Pointed chin, Plagiocephaly, Dental crowding, Short chin, Broad nasal tip, Pro... |
OMIM:618106 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Ventriculomegaly, Large earlobe, Cutis marmorata, Smooth philtrum, Hydroc... |
OMIM:602501 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Low-set ears, Choanal atresia, Retrognathia, Submucous cleft hard palate, Attention deficit hyper... |
OMIM:619227 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Wide nasal bridge, Conical tooth, Conductive hearing impairment, Delayed eruption of teeth, Widel... |
ORPHA:1071 |
| Kury-Isidor Syndrome |
|
Low-set ears, Long philtrum, Widely spaced teeth, Recurrent otitis media, Anteverted nares, Tente... |
OMIM:619762 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Bifid uvula, Respiratory distress, Stenosis of the external auditory canal, Micrognathia, Sensori... |
OMIM:606164 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Low-set ears, Ventriculomegaly, Short chin, Anteverted nares, Cutis marmorata, Narrow mouth, Agen... |
OMIM:613735 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Hypoplasia of the maxilla, Delayed eruption of teeth, Carpal osteolysi... |
OMIM:259600 |
| Beck-Fahrner Syndrome |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Long philtrum, Open mouth, Protru... |
OMIM:618798 |
| Aase-Smith Syndrome I |
|
Open mouth, Death in infancy, Hydrocephalus, Cleft palate, Abnormal pinna morphology, Dandy-Walke... |
OMIM:147800 |
| Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Coronal craniosynostosis, Microretrognath... |
OMIM:616294 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele, Cleft palate |
ORPHA:66637 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| 1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Frontal bossing, Cryptorchidism |
ORPHA:250994 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Low-set ears, Cerebellar atrop... |
ORPHA:572798 |
| Foxp1 Syndrome |
|
Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Downturned co... |
ORPHA:391372 |
| Gaucher Disease, Perinatal Lethal |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Everted upper lip vermilion, Retrognathia... |
OMIM:608013 |
| Genitopatellar Syndrome |
|
Low-set ears, Delayed eruption of teeth, Long philtrum, Hearing impairment, Prominent nose, Micro... |
ORPHA:85201 |
| Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, Lateral ventricle dilatation, Micrognathia, Everted lower lip vermilion, Anterior ... |
ORPHA:177907 |
| Peho Syndrome |
|
Ventriculomegaly, Cerebellar atrophy, Macrotia, Abnormal upper lip morphology, Gingival overgrowt... |
ORPHA:2836 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Prominent nasal bridge, Open mouth, Broad philtrum, Hypoplasia of teeth, Del... |
ORPHA:3010 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Micrognathia |
ORPHA:1423 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft palate, Cleft upper lip, Agenesis of corpus callosum |
OMIM:614402 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Plagiocephaly, Hearing impairment, Long philtrum, Frontal bossing, Brachycephaly, Dolichocephaly,... |
OMIM:619721 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Wide nasal bridge, Low-set ears, Inferior cerebellar vermis hypoplasia, Cleft lip, Microretrognat... |
OMIM:618571 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar cyst |
OMIM:615960 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Hearing impairment, Micrognathia, Non-midline cleft of the upper lip, Short nose, ... |
ORPHA:2710 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Ventriculomegaly, Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Anteverted nares,... |
ORPHA:2031 |
| Trisomy 17P |
|
Low-set ears, Hearing impairment, Thick nasal alae, Prominent nose, Micrognathia, Narrow mouth, M... |
ORPHA:261290 |
| Ring Chromosome 7 Syndrome |
|
Narrow naris, Prominent crus of helix, Narrow mouth, Holoprosencephaly, Short nose, Plagiocephaly... |
ORPHA:1449 |
| Aarskog-Scott Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Large earlobe, Anteverted nares, H... |
OMIM:305400 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Ventriculomegaly, Cleft soft palate, Thin upper lip vermilion, Choanal stenosis, Uplifted earlobe... |
OMIM:620183 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Low-set ears, Cerebellar vermis hypoplasia, Pointed chin, Depressed nasal bridge, Cerebellar atro... |
OMIM:618590 |
| Pachyonychia Congenita |
|
Natal tooth, Oral leukoplakia, Respiratory distress, Ear pain, Angular cheilitis, Advanced erupti... |
ORPHA:2309 |
| Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Cleft upper lip, Low-set, posteriorly rotated ear... |
ORPHA:1394 |
| Kabuki Syndrome 2 |
|
Low-set ears, Broad nasal tip, Natal tooth, Dental malocclusion, Hearing impairment, Macrotia, Re... |
OMIM:300867 |
| Meckel Syndrome, Type 1 |
|
Low-set ears, Natal tooth, Chiari malformation, Occipital encephalocele, Micrognathia, Large plac... |
OMIM:249000 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Low-set ears, Congenital hip dislocation, Joint contracture of the hand, Retrognathia, Hyperplasi... |
OMIM:300280 |
| Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Meckel diverticulum, Long philtrum, Trigonocephaly, Crani... |
OMIM:190440 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Long philtrum, Short nose |
OMIM:125700 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Wide nasal bridge, Coronal craniosynostosis, Hearing impairment, Micrognathia, Narrow mouth, Shor... |
OMIM:614078 |
| Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Gingival overgrowth, Death in childhood, Hydrocephalus, High palate |
OMIM:269920 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Depressed nasal bridge, Plagiocephaly, Downturned corners of mouth, Long philtrum, Hearing impair... |
OMIM:610759 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Micrognathia |
OMIM:300580 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... |
ORPHA:370022 |
| Loeys-Dietz Syndrome 5 |
|
Bifid uvula, Retrognathia, Bruising susceptibility, Cleft soft palate, Tented upper lip vermilion... |
OMIM:615582 |
| Thanatophoric Dysplasia Type 1 |
|
Depressed nasal bridge, Hearing impairment, Excessive wrinkled skin, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Wide nasal base, Tooth malposition, Flared nostrils, Low-set ears, Hearing impairment, Anal atres... |
ORPHA:480880 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Sensorineural ... |
OMIM:122880 |
| Glass Syndrome |
|
Low-set ears, Micrognathia, Narrow mouth, Long nose, High palate, Restlessness, Pierre-Robin sequ... |
OMIM:612313 |
| Holoprosencephaly 14 |
|
Low-set ears, Ventriculomegaly, Cleft lip, Cerebellar atrophy, Alobar holoprosencephaly, Probosci... |
OMIM:619895 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Ventriculomegaly, Downturned corners of mouth, Hearing impairment, Anteverted nares, Cryptorchidi... |
ORPHA:96147 |
| 16P13.11 Microdeletion Syndrome |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Atresia of the external auditory canal, C... |
ORPHA:261236 |
| Geroderma Osteodysplasticum |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Progeroid facial appearan... |
OMIM:231070 |
| Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Wormian bones, Short philtrum, Posteriorly rotated ears |
OMIM:617237 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Lateral ventricle dilatation, Long philtrum, Bulbous nose, Anteverted nar... |
OMIM:614105 |
| Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Low-set ears, Retrognathia, Underdeveloped tragus, Angulated antihelix, Orofac... |
OMIM:618804 |
| Acrofacial Dysostosis, Catania Type |
|
Tessier cleft, Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the ... |
ORPHA:1786 |
| Masa Syndrome |
|
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum |
OMIM:303350 |
| Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Tarsal syno... |
ORPHA:2756 |
| Andersen-Tawil Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Low-set ears, Dental ... |
ORPHA:37553 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Ectodermal dysplasia, Natal tooth, Oligodontia |
OMIM:601345 |
| 8P Inverted Duplication/Deletion Syndrome |
|
High, narrow palate, Wide nasal bridge, Retrognathia, Long philtrum, Macrotia, Anteverted nares, ... |
ORPHA:96092 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Wormian bones, Micrognathia, Delayed eruption of teeth |
ORPHA:2050 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia, Hip dislocation |
OMIM:614381 |
| Van Den Ende-Gupta Syndrome |
|
Joint contracture of the hand, Micrognathia, Narrow mouth, Everted lower lip vermilion, Dislocate... |
OMIM:600920 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Micrognathia, Hydrocephalus, Cleft palate, Microtia |
OMIM:243440 |
| Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Wide nasal bridge, Depressed nasal bridge, Low-set ears, Conduct... |
ORPHA:2136 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Umbilical hernia |
OMIM:254120 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Wide nasal bridge, Long philtrum, Recurrent otitis media, Anteverted nares, Micrognathia, Large f... |
OMIM:602562 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Ventriculomegaly |
OMIM:617977 |
| Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Bulbous nose, Micro... |
OMIM:190350 |
| Frontorhiny |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Low-set, posteriorly rotated ears, Hypoplasti... |
ORPHA:391474 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Abnormality of the dentition, Depressed nasal bridge, Low-set ears, ... |
OMIM:615398 |
| Stromme Syndrome |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Low-set ears, Intestinal malrotation, Short colu... |
OMIM:243605 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Depressed nasal bridge, Narrow mouth, Hydrocephalus, Abnormal nasal morphology |
ORPHA:83473 |
| Faciocardiomelic Dysplasia, Lethal |
|
Microglossia, Retrognathia, Micrognathia, Narrow mouth, Neonatal death |
OMIM:227270 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Long philtrum, Sensorineural hearing impai... |
OMIM:610199 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Microdontia, Thin upper lip ve... |
ORPHA:1915 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Poor wound healing, Bruising susceptibility, Joint dislocation, Bowel diverticulosis, Recurrent s... |
OMIM:130000 |
| Lateral Meningocele Syndrome |
|
High, narrow palate, Craniofacial hyperostosis, Low-set ears, Dental crowding, Atresia of the ext... |
ORPHA:2789 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Congenital Myopathy 13 |
|
Low-set ears, Ventriculomegaly, Hypercapnia, Conductive hearing impairment, Downturned corners of... |
OMIM:255995 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conical tooth, Bilateral choanal atresia... |
OMIM:106260 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Low-set ears, Hearing impairment, Sensorineural hearing impairment, Polyphagia, High palate, Dysp... |
OMIM:607872 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Wide nasal bridge, Carious teeth, Delayed eruption of teeth, Hearing impairment, Enlargement of t... |
OMIM:277440 |
| Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Subcutaneous lipoma, Furrowed... |
OMIM:615108 |
| Intellectual Disability-Strabismus Syndrome |
|
Low-set ears, Abnormality of the dentition, Depressed nasal bridge, Plagiocephaly, Hearing impair... |
ORPHA:363528 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Conductive hearing impairment, Downturned corners of mouth, Abnormal mandible morphology, Long ph... |
ORPHA:2215 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Scaphocephaly, Micrognathia, Plagiocephaly |
ORPHA:1143 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Hypoglycorrhachia |
ORPHA:71277 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
| Aicardi-Goutieres Syndrome 4 |
|
Low-set ears, Ventriculomegaly, Cerebellar atrophy, Death in childhood, CSF lymphocytic pleiocyto... |
OMIM:610333 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Au-Kline Syndrome |
|
Supernumerary nipple, Open mouth, Cryptorchidism, Sensorineural hearing impairment, Lipomyelomeni... |
OMIM:616580 |
| 16P12.1P12.3 Triplication Syndrome |
|
High, narrow palate, Low-set ears, Retrognathia, Long philtrum, Bilateral cryptorchidism, Decreas... |
ORPHA:485405 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth, Hearing impairment, Dela... |
ORPHA:2484 |
| Burn-Mckeown Syndrome |
|
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... |
ORPHA:1200 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Oculodentodigital Dysplasia |
|
Carious teeth, Conductive hearing impairment, Selective tooth agenesis, Cleft upper lip, Underdev... |
OMIM:164200 |
| Silver-Russell Syndrome 2 |
|
Micrognathia, Delayed closure of the anterior fontanelle, Downturned corners of mouth |
OMIM:618905 |
| Joubert Syndrome 14 |
|
Low-set ears, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Prominent nasal bridge... |
OMIM:614424 |
| Moebius Syndrome |
|
Bifid uvula, Abnormality of the dentition, Depressed nasal bridge, Respiratory distress, Decrease... |
OMIM:157900 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| 5Q14.3 Microdeletion Syndrome |
|
Ventriculomegaly, Anteverted nares, Open mouth, Short philtrum, Agenesis of cerebellar vermis, Sh... |
ORPHA:228384 |
| Weiss-Kruszka Syndrome |
|
Low-set ears, Ventriculomegaly, Cupped ear, Hearing impairment, Horizontal crus of helix, Antever... |
OMIM:618619 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Otosclerosis, Wormian bones, Hearing impairment |
OMIM:166220 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Low-set ears, Coronal craniosynostosis, Abnormality of the outer ear, Natal tooth, Steep acetabul... |
ORPHA:313855 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Coronal craniosynostosis, Orbital craniosynostosis, Micrognathia, Micr... |
OMIM:112240 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Bulbous nose, Antev... |
OMIM:309583 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ... |
OMIM:619950 |
| Cockayne Syndrome Type 2 |
|
Hearing impairment, Widely spaced primary teeth, Progeroid facial appearance, Hypoplasia of the p... |
ORPHA:90322 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Hearing impairment |
ORPHA:35099 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Ventriculomegaly, High palate, Mandibular prognathia |
ORPHA:2172 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Wide nasal bridge, Hearing impairment, Anteverted nares, Micrognathia, Cleft soft palate, Submuco... |
ORPHA:2282 |
| 2P15P16.1 Microdeletion Syndrome |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Retrognathia, Long philtrum, Supernumerary nip... |
ORPHA:261349 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Tessier cleft, Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Cond... |
ORPHA:306542 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal ridge, Depressed nasal bridge, Hip subluxation, Long philtrum, Enlarged naris, El... |
OMIM:271665 |
| Trichothiodystrophy 3, Photosensitive |
|
Low-set ears, Carious teeth, Meckel diverticulum, Natal tooth, Hearing impairment, Eclabion, Cuta... |
OMIM:616395 |
| Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Umbilical hernia, Agenesis of corpus callosum, Hydrocephalus, Craniosynostosis... |
ORPHA:380 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
| Angelman Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Paroxys... |
OMIM:105830 |
| Hamamy Syndrome |
|
Wide nasal bridge, Low-set ears, Dental malocclusion, Long philtrum, Anteverted nares, Micrognath... |
OMIM:611174 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Short chin, Cleft palate, Hydrocephalus, Cleft upper lip |
ORPHA:398189 |
| Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis, Lip discoloration, Cerebellar atrophy |
ORPHA:621 |
| Alfadhel Syndrome |
|
Low-set ears, Retrognathia, Bulbous nose, Smooth philtrum, Thin vermilion border, Short philtrum,... |
OMIM:620655 |
| Osteoglophonic Dysplasia |
|
Low-set ears, Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Delayed eruptio... |
OMIM:166250 |
| Kaufman Oculocerebrofacial Syndrome |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Carious teeth, Diastema, Intestinal malro... |
OMIM:244450 |
| Arthrogryposis, Distal, Type 3 |
|
Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submucous cleft h... |
OMIM:114300 |
| Triploidy |
|
Intestinal malrotation, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Cryptorchi... |
ORPHA:3376 |
| 20Q11.2 Microduplication Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Retrognathia, Low-set, posteriorly ro... |
ORPHA:363659 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Chiari malformation, Myelomeningocele, Cyanosis, Agenesis of corpus callosum... |
OMIM:207950 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Doors Syndrome |
|
Wide nasal base, Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Op... |
ORPHA:79500 |
| 9P13 Microdeletion Syndrome |
|
Wide nasal bridge, Low-set ears, Microretrognathia, Umbilical hernia, Recurrent otitis media, Ant... |
ORPHA:324313 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n... |
ORPHA:2315 |
| Endocrine-Cerebroosteodysplasia |
|
Wide nasal bridge, Low-set ears, Ventriculomegaly, Natal tooth, Thick upper lip vermilion, Depres... |
OMIM:612651 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Bruising susceptibility, Wormian bones |
OMIM:166200 |
| Autosomal Recessive Robinow Syndrome |
|
Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Open bite, Ankyloglossia, Micr... |
ORPHA:1507 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low-set ears, Chiari malformation, Hypoplasia of the pons, Dimple chin, Cryptorchidism, Wide nose... |
OMIM:619293 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Persistence of primary teeth, Hydr... |
OMIM:259710 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Bilateral cryptorchidism, Respiratory distress, Death in infancy, Neonatal death, U... |
OMIM:300219 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Depressed nasal ridge, Occipital encephalocele, Cleft upper lip, Encephalocele, Sho... |
OMIM:613885 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Short chin, Everted lower lip vermilion, Hypohidrotic ectodermal dys... |
OMIM:305100 |
| Cohen Syndrome |
|
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Aplasia/Hypoplasia ... |
ORPHA:193 |
| Frontal Encephalocele |
|
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Dolichocephaly |
ORPHA:1931 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Dysphagia, Delayed eruption of teeth, Oligodontia |
ORPHA:447896 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral crypt... |
OMIM:619859 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hyperplasia of the maxilla, Prominent nose, Micrognathia, High palate, Macrotia |
OMIM:620194 |
| Cranioectodermal Dysplasia 4 |
|
Anteverted nares, Taurodontia, Smooth philtrum, Protruding ear, Sagittal craniosynostosis, Thin v... |
OMIM:614378 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Diastema, Long philtrum, Trigonocephaly, Anteverted nares, Short nose |
OMIM:300581 |
| Malan Overgrowth Syndrome |
|
Pointed chin, Ventriculomegaly, Plagiocephaly, Depressed nasal bridge, Lateral ventricle dilatati... |
ORPHA:420179 |
| 7Q11.23 Microduplication Syndrome |
|
Hearing impairment, Abnormal earlobe morphology, Cutis marmorata, Micrognathia, Short lingual fre... |
ORPHA:96121 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pointed chin, Carious teeth, Dental crowding, Downturned corners of mouth, Short chin, Intestinal... |
OMIM:617602 |
| Joubert Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Abnormal pattern of respiration, Episodic tachypnea, ... |
ORPHA:475 |
| Lig4 Syndrome |
|
Wide nasal bridge, Erythema, Micrognathia, Cryptorchidism, Cutaneous photosensitivity, Brachyceph... |
ORPHA:99812 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Broad nasal tip, Low-set, posteriorly rotated ears, Cryptorchidism, Brachycephaly, High palate, S... |
ORPHA:3306 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Depressed nasal bridge, Hearing impairment, Anteverted nares, Malar flattening, Thick vermilion b... |
ORPHA:86818 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Genu valgum, Cubitus valgus, Enlarged joints, Abnormali... |
ORPHA:263463 |
| Shprintzen-Goldberg Syndrome |
|
High, narrow palate, Low-set ears, Hypoplasia of the maxilla, Conductive hearing impairment, Retr... |
ORPHA:2462 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| 2Q23.1 Microdeletion Syndrome |
|
Macrodontia, Tented upper lip vermilion, Malar flattening, Open mouth, Cryptorchidism, Brachyceph... |
ORPHA:228402 |
| Czeizel-Losonci Syndrome |
|
Hypoplastic helices, Myelomeningocele, Thin calvarium, Low-set, posteriorly rotated ears, Microgn... |
ORPHA:2437 |
| Osteopathia Striata With Cranial Sclerosis |
|
Low-set ears, Natal tooth, Micrognathia, Anal atresia, High palate, Pierre-Robin sequence, Cranio... |
OMIM:300373 |
| Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1484 |
| Ogden Syndrome |
|
High, narrow palate, Low-set ears, Microretrognathia, Everted upper lip vermilion, Underdeveloped... |
ORPHA:276432 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Dysphagia, Abnormal pinna morphology, Wide anterior fontanel |
ORPHA:26791 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Narrow mouth, Wide nose, Hypoplasia of the maxilla, Short philtrum, Posteriorly rot... |
ORPHA:96334 |
| Alexander Disease |
|
Increased CSF protein concentration, Death in childhood, Death in infancy, Abnormal dentate nucle... |
OMIM:203450 |
| Temtamy Syndrome |
|
Low-set ears, Hip dislocation, Dental crowding, Long philtrum, Micrognathia, Self-mutilation, Con... |
OMIM:218340 |
| Tenorio Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Recurrent aphthous stomatitis, Apnea, Anteverted nares, ... |
OMIM:616260 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Sensorineural hearing impairment, Ta... |
ORPHA:3214 |
| Genitopalatocardiac Syndrome |
|
Wide nasal bridge, Low-set ears, Downturned corners of mouth, Micrognathia, Cryptorchidism, Hydro... |
ORPHA:2075 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Narrow mouth, Cyanosis, Submucous cleft hard pala... |
ORPHA:3426 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... |
ORPHA:1906 |
| Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Subcutaneous lipoma, Furrowed... |
OMIM:615109 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Camptodactyly of finger, Hidrotic ectodermal dysplasia, Joint contracture of the 5... |
ORPHA:1883 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Frontal bossing, Hydrocephalus, Umbilical hernia |
ORPHA:2181 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide nasal base, Wide mouth, Hydrocephalus, Wide nasal bridge |
OMIM:616521 |
| Meier-Gorlin Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Atresia of the external auditory... |
OMIM:224690 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
| Carey-Fineman-Ziter Syndrome |
|
Ventriculomegaly, Long philtrum, Aplasia/Hypoplasia of the tongue, Anteverted nares, Micrognathia... |
ORPHA:1358 |
| Cerebrocostomandibular Syndrome |
|
Low-set ears, Congenital hip dislocation, Anal stenosis, Carious teeth, Cleft lip, Conductive hea... |
OMIM:117650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Death in childho... |
OMIM:613153 |
| Short Syndrome |
|
Wide nasal bridge, Low-set ears, Dental malocclusion, Delayed eruption of teeth, Downturned corne... |
OMIM:269880 |
| X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... |
ORPHA:1131 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Prominent nose |
OMIM:620688 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased CSF lactate |
ORPHA:238329 |
| Cerebellofaciodental Syndrome |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Genu valgu... |
OMIM:616202 |
| Achondrogenesis |
|
Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Frontal bossing, Short nose |
ORPHA:932 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Cerebellar atrophy, Dilated fourth ventricl... |
OMIM:212065 |
| Noonan Syndrome 13 |
|
Wide nasal bridge, Low-set ears, Head-banging, Bruising susceptibility, Long philtrum, Widely spa... |
OMIM:619087 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Delayed cranial suture closure |
ORPHA:93324 |
| Gapo Syndrome |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Delayed eruption of teeth, Long philtrum, ... |
ORPHA:2067 |
| Baller-Gerold Syndrome |
|
Conductive hearing impairment, Brachyturricephaly, Anteriorly placed anus, Short nose, Narrow nas... |
ORPHA:1225 |
| Houge-Janssens Syndrome 2 |
|
Ventriculomegaly, Plagiocephaly, Anteverted nares, Tented upper lip vermilion, Open mouth, Agenes... |
OMIM:616362 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Depressed nasal bridge, Dental crowding, Delayed eruption of teeth, Conductive heari... |
OMIM:300990 |
| Dysosteosclerosis |
|
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Hearing ... |
ORPHA:1782 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Long nose, Low ha... |
OMIM:613680 |
| Beemer-Ertbruggen Syndrome |
|
Wide nasal bridge, Low-set, posteriorly rotated ears, Bulbous nose, Micrognathia, Cryptorchidism,... |
ORPHA:1237 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia, Long philtrum, Short ch... |
OMIM:617061 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Thin vermilion border, Low-set, posteriorly rotated ears, Narrow mouth, Short nose |
ORPHA:2370 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Downturned corners of mouth, Long philtrum, Macrotia, Anteverted nares, Micrognathia, Narrow mout... |
ORPHA:391408 |
| Aymé-Gripp Syndrome |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Long philtrum, Breast hypo... |
ORPHA:1272 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Micrognathia, Frontal bossing, Short nose, Microtia |
ORPHA:2547 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Submucous cle... |
ORPHA:250999 |
| Toluene Embryopathy |
|
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Th... |
ORPHA:1920 |
| White-Sutton Syndrome |
|
Low-set ears, Abnormality of the outer ear, Micrognathia, Overfriendliness, Sensorineural hearing... |
OMIM:616364 |
| Pfeiffer Syndrome |
|
Wide nasal bridge, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, High... |
ORPHA:710 |
| Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Depressed nasal ridge, Carious teeth, Failure of eruption of permanent teeth, ... |
ORPHA:2769 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal bridge, Narrow nasal bridge, Mic... |
OMIM:620073 |
| Diencephalic Syndrome |
|
Hydrocephalus, Everted lower lip vermilion, Macrotia |
ORPHA:1672 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hydrocephalus, Cleft palate |
ORPHA:2635 |
| Spinocerebellar Ataxia, Autosomal Recessive 33 |
|
Cerebellar hypoplasia, Dilated fourth ventricle |
OMIM:620208 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short chin, Short nose, Sensorineural hearing impairment |
OMIM:618379 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Exertional dyspnea, Orthopnea, Cyanosis |
ORPHA:98913 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate |
OMIM:617337 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Choanal atresia, Natal tooth, Underdeveloped n... |
ORPHA:2108 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Dolichocephaly, High palate |
ORPHA:596 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Plagiocephaly, Thin upper lip vermilion, Brachycephaly, Unilateral cryptorchidism, High palate |
OMIM:618862 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Low-set ears, Depressed nasal bridge, Cerebellar atrophy, Long philtrum, Frontal bossing, Villous... |
OMIM:608776 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Cupped ear, Anteverted nares, Micrognathia, Median cleft palate, Antecu... |
ORPHA:40366 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Pointed chin, Depressed nasal bridge, Plagiocephaly, Dental crowding, Extra-axial cerebrospinal f... |
OMIM:619005 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Anosmia, Carious teeth, Conductive hearing impairment, Atresia of the external a... |
ORPHA:2316 |
| Autosomal Recessive Omodysplasia |
|
Low-set ears, Depressed nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Cryptorchidi... |
ORPHA:93329 |
| Monosomy 9P |
|
Low-set ears, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Cryptorchidism,... |
ORPHA:261112 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Pointed chin, Depressed nasal bridge, Low-set ears, Long philtrum, Intestinal ... |
OMIM:618316 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla, Conductive hearing impairment, Low-set, posteriorly rotated ears, Sens... |
ORPHA:96129 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Ventriculomegaly, Short philtrum, Tented upper lip vermilion, Short nose |
ORPHA:85277 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Macrogl... |
OMIM:613155 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Macroglossia, High palate |
ORPHA:254864 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ventriculomegaly, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of tee... |
OMIM:619229 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Wide nasal bridge, Conical tooth, Dental malocclusion, Thick nasal alae, Persistence of primary t... |
OMIM:618727 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
| Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Depressed nasal bridge, Hearing impairment, Myelomeningocele, Micrognathia, Narrow ... |
ORPHA:90652 |
| Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,... |
OMIM:608149 |
| 6P22 Microdeletion Syndrome |
|
Low-set ears, Hearing impairment, Abnormal palate morphology, Hydrocephalus, Overfolded helix |
ORPHA:251046 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Low-set ears, Carious teeth, Broad nasal tip, Long philtrum, Prominent veins on trunk, Anteverted... |
ORPHA:357074 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:1170 |
| Cerebellar-Facial-Dental Syndrome |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Inferior cerebellar vermis... |
ORPHA:444072 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Long philtrum, Abnormal pattern of respiration, Thick vermilion border |
ORPHA:833 |
| Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Wide mouth, Large fontanelles, Ant... |
ORPHA:116 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Long philtrum, Brachycephaly, Stillbirth, Frontal bossing, Cleft palate |
OMIM:200610 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Unicoronal synostosis, Macro... |
OMIM:616300 |
| Arthrogryposis, Distal, Type 2A |
|
Wide nasal bridge, Whistling appearance, Abnormal auditory evoked potentials, Dental crowding, Ce... |
OMIM:193700 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Cerebellar atrophy, Micrognathia, Frontal bossing, Short nose |
OMIM:617183 |
| Neurocardiofaciodigital Syndrome |
|
Cerebellar vermis hypoplasia, Retrognathia, Lateral ventricle dilatation, Hearing impairment, Ove... |
OMIM:619869 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy |
OMIM:610768 |
| Prolidase Deficiency |
|
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Erythema, Hypoplasia of the zygomat... |
ORPHA:742 |
| Hypophosphatasia, Adult |
|
Chondrocalcinosis, Carious teeth, Premature loss of primary teeth, Arthropathy, Premature loss of... |
OMIM:146300 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Chromosome 15Q14 Deletion Syndrome |
|
Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum, Cleft palate |
OMIM:616898 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Parietal Foramina 1 |
|
Wormian bones, Cleft palate, Cleft upper lip |
OMIM:168500 |
| Verheij Syndrome |
|
Wide nasal bridge, Broad nasal tip, Branchial cyst, Long philtrum, Retrognathia, Anteverted nares... |
OMIM:615583 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Low-set ears, Conductive hearing impairment, Prominent nasal bridge, Tented upper lip vermilion, ... |
OMIM:618885 |
| Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Hearing impairment, Micrognathi... |
OMIM:224300 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Sel... |
ORPHA:476126 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... |
OMIM:617967 |
| Chromosome 2Q37 Deletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Anteverted nares, Malar flattening, Sensorineural hearin... |
OMIM:600430 |
| Acrofrontofacionasal Dysostosis |
|
Broad nasal tip, Brachycephaly, Everted lower lip vermilion, Dimple on nasal tip, High palate, No... |
ORPHA:1784 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Plagiocephaly, Long philtrum, Bilateral ... |
OMIM:613457 |
| Acrofrontofacionasal Dysostosis 1 |
|
Wide nasal bridge, Mandibular prognathia, Cleft upper lip, Malar flattening, Oligodontia, Brachyc... |
OMIM:201180 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Choanal atresia, Ventriculomegaly, Depressed nasal bridge, Hearing impairment, Absent cupid's bow... |
ORPHA:284169 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color, Conductive hearing impairment |
ORPHA:1006 |
| Costello Syndrome |
|
Low-set ears, Depressed nasal bridge, Thick lower lip vermilion, Anteverted nares, Micrognathia, ... |
OMIM:218040 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Hearing impairment, Anteverted nares, Prominent nasal bridge, Cryptorchidism... |
OMIM:227330 |
| Albers-Schönberg Osteopetrosis |
|
Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Hearing impairment, Hydroc... |
ORPHA:53 |
| Otopalatodigital Syndrome, Type Ii |
|
Low-set ears, Depressed nasal bridge, Congenital hip dislocation, Conductive hearing impairment, ... |
OMIM:304120 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Everted... |
ORPHA:800 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis |
ORPHA:3353 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Low-set ears, Abnormality of the outer ear, Micrognathia, Narrow mouth, Cryptorchidism, High pala... |
ORPHA:251028 |
| Autosomal Dominant Robinow Syndrome |
|
Low-set ears, Hearing impairment, Elbow dislocation, Open bite, Micrognathia, Anodontia, Hip disl... |
ORPHA:3107 |
| Developmental And Epileptic Encephalopathy 49 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Macrotia, Thick upper lip vermilion, Prominent no... |
OMIM:617281 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Hypodontia, Carious teeth, Reduced subcutaneous adipose tissue |
OMIM:612079 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Short chin, Respiratory distress, Narrow nasal bridge, Sensorineural hearing ... |
ORPHA:544503 |
| Ayme-Gripp Syndrome |
|
Wide nasal bridge, Craniofacial asymmetry, Abnormality of the dentition, Depressed nasal bridge, ... |
OMIM:601088 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Hydrocephalus |
ORPHA:2183 |
| Achondrogenesis Type 1B |
|
Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Frontal bossing, Short nose |
ORPHA:93298 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Open bite, Antever... |
ORPHA:2969 |
| Autosomal Dominant Omodysplasia |
|
Depressed nasal bridge, Long philtrum, Micrognathia, Cryptorchidism, Malar flattening, Frontal bo... |
ORPHA:93328 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventriculomegaly, Plagiocephaly, Abnormal earlobe morphology, Umbilical hernia, Recurrent otitis ... |
ORPHA:500159 |
| Aicardi Syndrome |
|
Block vertebrae, Cleft upper lip, Intestinal polyposis, Prominence of the premaxilla, Hiatus hern... |
ORPHA:50 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hearing impairment, Apnea, Recurrent hand flapping, Protruding tongue, Cyanosis, Aggressive behav... |
OMIM:619580 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Wide nasal bridge, Broad nasal tip, Hearing impairment, Bulbous nose, Wide mouth, Thin upper lip ... |
OMIM:620475 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Wide nasal bridge, Low-set ears, Carious teeth, Retrognathia, Underdeveloped nasal alae, Macrotia... |
OMIM:613026 |
| Distal Deletion 9P |
|
High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Aplasia/Hypoplasia of the e... |
ORPHA:1642 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Retrognathia, Bruising susceptibility, Progeroid facial appearance, Narrow n... |
OMIM:616914 |
| 3M Syndrome |
|
Congenital hip dislocation, Delayed eruption of teeth, Long philtrum, Abnormal dental enamel morp... |
ORPHA:2616 |
| Ramos-Arroyo Syndrome |
|
Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory dist... |
ORPHA:1051 |
| ERI1-related disease |
|
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Velopharyngeal insufficiency... |
OMIM:608739 |
| Joubert Syndrome 2 |
|
Low-set ears, Depressed nasal bridge, Enlarged fossa interpeduncularis, Dysgenesis of the cerebel... |
OMIM:608091 |
| Eiken Syndrome |
|
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... |
OMIM:600002 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Cupped ear... |
ORPHA:2399 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Underdeveloped superior crus of antihelix, Delayed eruption of teeth, Hearin... |
ORPHA:369950 |
| Orofaciodigital Syndrome Type 4 |
|
Low-set ears, Abnormality of the outer ear, Abnormal joint morphology, Micrognathia, Perineal fis... |
ORPHA:2753 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Delayed eruption of permanent teeth, Tented upper lip vermilion, Bilateral sen... |
ORPHA:521445 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplasia of the anterior nas... |
ORPHA:79345 |
| Monosomy 9Q22.3 |
|
Low-set ears, Ventriculomegaly, Chiari malformation, Delayed eruption of teeth, Long philtrum, Um... |
ORPHA:77301 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| 14Q22Q23 Microdeletion Syndrome |
|
Ventriculomegaly, Cupped ear, Downturned corners of mouth, Underdeveloped nasal alae, Hearing imp... |
ORPHA:264200 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:251347 |
| Tetrasomy 15Q26 |
|
Low-set ears, Microretrognathia, Cupped ear, Hydrocephalus, High palate, Dandy-Walker malformation |
OMIM:614846 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Large fontanelles, Death in childhood, De... |
OMIM:613320 |
| Microphthalmia With Limb Anomalies |
|
Flared nostrils, Depressed nasal bridge, Low-set ears, Retrognathia, Cleft upper lip, Posteriorly... |
OMIM:206920 |
| Chime Syndrome |
|
Abnormality of the dentition, Depressed nasal ridge, Abnormality of the outer ear, Erythema, Hear... |
ORPHA:3474 |
| Gorlin Syndrome |
|
Wide nasal bridge, Carious teeth, Frontal bossing, Cryptorchidism, Abnormality of the sense of sm... |
ORPHA:377 |
| Monosomy 18Q |
|
Secondary growth hormone deficiency, Mandibular prognathia, Depressed nasal bridge, Bilateral con... |
ORPHA:1600 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Low-set ears, Depressed nasal bridge, Hearing impairment, Long philtrum, Breast hypoplasia, Narro... |
OMIM:601353 |
| Holoprosencephaly 13, X-Linked |
|
Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hearing impairment, Microgna... |
OMIM:301043 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Stenosis of the external auditory canal, Oral mucosal blisters, Fragile skin, Esop... |
ORPHA:79409 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Low-set ears, Depressed nasal bridge, Everted upper lip vermilion, Hearing impairment, Supernumer... |
OMIM:619951 |
| Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... |
OMIM:118400 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Tooth malposition, Abnormal helix morphology, Failure of eruption of per... |
ORPHA:2896 |
| Holoprosencephaly 3 |
|
Bifid uvula, Ventriculomegaly, Cleft lip, Depressed nasal bridge, Abnormality of the nose, Probos... |
OMIM:142945 |
| Achondrogenesis Type 1A |
|
Long philtrum, Umbilical hernia, Anteverted nares, Micrognathia, Frontal bossing, Short nose |
ORPHA:93299 |
| Craniosynostosis 4 |
|
Lambdoidal craniosynostosis, Depressed nasal bridge, Coronal craniosynostosis, Retrognathia, Bico... |
OMIM:600775 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Narrow palate, Plagiocephaly, Mandibular prognathia |
OMIM:615516 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Knee flexion contracture, Hypoplasia of the nasal bone, Hip contracture |
OMIM:118650 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Neonatal death |
OMIM:609638 |
| Hyperparathyroidism, Transient Neonatal |
|
Wide nasal bridge, Hyperparathyroidism, Ventriculomegaly, Depressed nasal bridge, Low-set ears, U... |
OMIM:618188 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Depressed nasal bridge, Ventriculomegaly, Chiari malformation, Frontal bossing, Cutis marmorata, ... |
ORPHA:60040 |
| Meier-Gorlin Syndrome 6 |
|
Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Conductive hearing impairment, ... |
OMIM:616835 |
| Microphthalmia, Lenz Type |
|
Self-injurious behavior, Abnormality of the dentition, Delayed eruption of teeth, Hearing impairm... |
ORPHA:568 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Wide nasal bridge, Pointed chin, Long philtrum, Frontal bossing, Umbilical hernia, Prominent nose... |
ORPHA:1292 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Cleft upper lip, Recurrent otitis med... |
OMIM:213980 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent otitis media, Hearing impairment |
OMIM:615993 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Rectourethral fistula, ... |
OMIM:603116 |
| Coffin-Lowry Syndrome |
|
Thick nasal septum, Hearing impairment, Cutis marmorata, Open mouth, Sensorineural hearing impair... |
OMIM:303600 |
| Frontofacionasal Dysplasia |
|
Bifid uvula, Hypoplasia of the frontal bone, Cranium bifidum occultum, Cleft upper lip, Underdeve... |
OMIM:229400 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Long philtrum, Frontal bossing, Open bite, Anteverted nares, Micrognathia, Prominent nasal bridge... |
ORPHA:1974 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
| Idiopathic Congenital Hypothyroidism |
|
Depressed nasal bridge, Large posterior fontanelle, Delayed cranial suture closure, Prolonged neo... |
ORPHA:95717 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Ventriculomegaly, Carious teeth, Dental malocclusion, Velopharyngea... |
ORPHA:363444 |
| Usher Syndrome Type 2 |
|
Carious teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, Microdontia, ... |
ORPHA:231178 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Cleft lip, Microretrognathia, Ventriculomegaly, Long philtrum, Bruisi... |
ORPHA:2953 |
| Orofaciodigital Syndrome Xiv |
|
Low-set ears, Natal tooth, Occipital encephalocele, Micrognathia, Cryptorchidism, Holoprosencepha... |
OMIM:615948 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Hearing impairment, Micrognathia, Glossoptosis, Delayed ossification of carpal bones |
ORPHA:93346 |
| Pseudohypoparathyroidism Type 1B |
|
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decre... |
ORPHA:94089 |
| Ellis-Van Creveld Syndrome |
|
Natal tooth, Delayed eruption of teeth, Cleft upper lip, Acetabular spurs, Genu valgum, Hypodonti... |
OMIM:225500 |
| Walker-Warburg Syndrome |
|
Low-set ears, Bifid uvula, Ventriculomegaly, Cryptorchidism, Submucous cleft hard palate, Agenesi... |
ORPHA:899 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Encephalocele, Hydro... |
ORPHA:1865 |
| Hennekam-Beemer Syndrome |
|
Wide nasal bridge, Erythema, Conductive hearing impairment, Hearing impairment, Thick lower lip v... |
ORPHA:2135 |
| Sponastrime Dysplasia |
|
Depressed nasal bridge, Mandibular prognathia, Shallow acetabular fossae, Anteverted nares, Genu ... |
ORPHA:93357 |
| Barber-Say Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Hearing impairment, Atresia of the external auditor... |
ORPHA:1231 |
| Pseudohypoparathyroidism, Type Ia |
|
Depressed nasal bridge, Delayed eruption of teeth, Pseudohypoparathyroidism, Thickened calvaria, ... |
OMIM:103580 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Hyperplasia of the maxilla, Prominent nose, Genu valgum, Joint swelling, Palmoplantar cutis laxa,... |
ORPHA:2976 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Fragile skin |
ORPHA:251393 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Abnormal cerebrospinal fluid morphology, Dilated third ventricle, Cerebellar atrophy, Sensorineur... |
ORPHA:314404 |
| Neu-Laxova Syndrome |
|
Bifid uvula, Ventriculomegaly, Depressed nasal ridge, Retrognathia, Macrotia, Micrognathia, Thick... |
ORPHA:2671 |
| Lethal Acantholytic Erosive Disorder |
|
Abnormal helix morphology, Natal tooth, Fragile skin, Abnormal pinna morphology, Cleft palate |
ORPHA:158687 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Dentinogenesis imperfecta, Depressed nasal bridge, Carious teeth, Plagiocephaly, Br... |
ORPHA:536467 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Unilateral cle... |
ORPHA:2588 |
| Treacher Collins Syndrome 1 |
|
Choanal atresia, Conductive hearing impairment, Atresia of the external auditory canal, Micrognat... |
OMIM:154500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Short ... |
OMIM:309590 |
| De Barsy Syndrome |
|
Low-set ears, Cerebellar vermis hypoplasia, Delayed eruption of teeth, Prominent veins on trunk, ... |
ORPHA:2962 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Bifid uvula, Mandibular prognathia, Choanal atresia, Cranial hyperostosis, F... |
ORPHA:2658 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Gingival overgrowth, Protruding tongue, B... |
OMIM:618797 |
| Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Conductive hearing impairment, Hearing impairment, Bruising susceptibility, To... |
OMIM:616229 |
| Holoprosencephaly |
|
Cryptorchidism, Encephalocele, Abnormal antihelix morphology, Holoprosencephaly, Abnormal pinna m... |
ORPHA:2162 |
| Kilquist Syndrome |
|
Low-set ears, Choanal atresia, Xerostomia, Intestinal malrotation, Stenosis of the external audit... |
OMIM:619080 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Broad nasal tip... |
ORPHA:363611 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Ventriculomegaly, Cerebellar atrophy, Respiratory distress, Increased CSF lactate, High palate |
OMIM:619272 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Dental crowding, Persistence of primary teeth, Hiat... |
OMIM:619769 |
| Adenylosuccinase Deficiency |
|
Low-set ears, Cerebellar atrophy, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smoo... |
OMIM:103050 |
| Acromicric Dysplasia |
|
Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mouth, Short nose |
ORPHA:969 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... |
ORPHA:238468 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormality of the outer ear, Hearing impairment, Widely spaced teeth, Recurrent otitis media, Mi... |
ORPHA:2728 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Enamel hypoplasia |
OMIM:226670 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Low-set ears, Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Death in childhoo... |
OMIM:614437 |
| Adnp Syndrome |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Recurrent upper respirator... |
ORPHA:404448 |
| Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose |
OMIM:618218 |
| Odontoonychodermal Dysplasia |
|
Erythema, Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of... |
OMIM:257980 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, High palate, Paradoxical respiration |
OMIM:620011 |
| Acrocephalopolydactyly |
|
Oxycephaly, Depressed nasal ridge, Short nose, Microtia |
ORPHA:221054 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Low-set ears, Umbilical hernia, Narrow mouth, Cryptorchidism, Narrow nasal ridge, Brachycephaly, ... |
OMIM:219150 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections |
OMIM:619773 |
| Developmental And Epileptic Encephalopathy 111 |
|
Low-set ears, Wide anterior fontanel |
OMIM:620504 |
| Arboleda-Tham Syndrome |
|
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... |
OMIM:616268 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Conical tooth, Carious teeth, Cupped ear, Hearing impairment, Microdontia, Hypodontia, Microtia |
OMIM:620192 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Brachycephaly, Plagiocephaly, Flat occiput |
ORPHA:2898 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Intestinal pseudo-obstruction, Widely spaced teeth, Thick lower lip ve... |
OMIM:309900 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enlargement of the wrists, Enamel hypoplasia, Widely patent fontanelle... |
OMIM:264700 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Petechiae, Prolonged neonatal jaundice, Diffuse telangiecta... |
OMIM:170100 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Increased CSF lactate, Death in infancy, Sensorineural hearing impairment |
OMIM:616974 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth |
OMIM:619751 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Anencephaly, Hydrocephalus, Meningocele, Agenesis of cerebellar vermis, Cleft pala... |
OMIM:611134 |
| Cowden Syndrome 1 |
|
Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Subcutaneous lipoma, Furrowed... |
OMIM:158350 |
| Cornelia De Lange Syndrome 1 |
|
Low-set ears, Cutis marmorata, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Hi... |
OMIM:122470 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Delayed eruption of teeth, Delayed cranial suture closure, Recurrent otitis me... |
OMIM:309350 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Prominent nasal bridge, Sensorineural hea... |
OMIM:619269 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Wormian bones, Hearing impairment, Protrusio acetabuli |
OMIM:610968 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Ventriculomegaly, Hydrocephalus |
OMIM:614830 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Hypoplasia of the zygomatic bone, Genu valgum, Thin upper lip vermilion, Abnormal nostri... |
ORPHA:1295 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Retrognathia, Underdeveloped nasal alae, Bulbous nose, Open mouth, ... |
OMIM:192430 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Long philtrum, Thin upper lip vermilion |
OMIM:614741 |
| Oculocerebrocutaneous Syndrome |
|
Tessier cleft, Ventriculomegaly, Hearing impairment, Calvarial skull defect, Cryptorchidism, Cere... |
ORPHA:1647 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Long philtrum, Thick lower lip vermilion, Prominent nose, Cerebellar hypopla... |
OMIM:614407 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose |
ORPHA:3044 |
| Mucopolysaccharidosis Type 1 |
|
Depressed nasal bridge, Hearing impairment, Thick lower lip vermilion, Widely spaced teeth, Thick... |
ORPHA:579 |
| Achondroplasia |
|
Depressed nasal bridge, Conductive hearing impairment, Respiratory distress, Recurrent otitis med... |
OMIM:100800 |
| Alagille Syndrome |
|
Pointed chin, Micrognathia, Cryptorchidism, Spina bifida occulta, Protruding ear, Brachycephaly, ... |
ORPHA:52 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormal palate morphology, Microretrognathia, Long philtrum, Short nose |
ORPHA:1389 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Craniosynost... |
ORPHA:1064 |
| Stickler Syndrome |
|
Hearing impairment, Open bite, Micrognathia, Genu valgum, Sensorineural hearing impairment, Short... |
ORPHA:828 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Low-set ears, Depressed nasal bridge, Microretrognathia, Long philtrum, Micrognathia, Narrow mout... |
OMIM:245600 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Retrocerebellar cyst, Frontal bossing, Prominent ... |
OMIM:300486 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Low-set ears, Microretrognathia, Hearing impairment, Bulbous nose, Anteverted nares, Open mouth, ... |
ORPHA:261211 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Joint contracture of the hand, Dental malocclusion, Atresia of the external auditory canal, Condu... |
OMIM:608257 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Low-set ears, Narrow palate, Pointed chin, Dental crowding, Hearing impairment, Long philtrum, An... |
OMIM:616078 |
| Silver-Russell Syndrome 1 |
|
Micrognathia, Downturned corners of mouth, Delayed cranial suture closure |
OMIM:180860 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Low-set ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Thin upper lip vermilion... |
OMIM:608688 |
| Branchiootic Syndrome |
|
Abnormality of the outer ear, Lip pit, Branchial fistula, Conductive hearing impairment, Hearing ... |
ORPHA:52429 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Low-set ears, Cerebellar atrophy, Hy... |
OMIM:616430 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Hearing impairment, Long philtrum, Protruding ear, Wormian bones, Limi... |
OMIM:614856 |
| Diamond-Blackfan Anemia 10 |
|
Low-set ears, Choanal atresia, Conductive hearing impairment, Hearing impairment, Atresia of the ... |
OMIM:613309 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Low-set ears, Hypoplasia of the antihelix, Hearing impairment, Long philtrum, Bulbous nose, Antev... |
OMIM:616420 |
| Miller-Dieker Lissencephaly Syndrome |
|
Wide nasal bridge, Low-set ears, Joint contracture of the hand, Delayed eruption of teeth, Thick ... |
OMIM:247200 |
| Distal Duplication 5Q |
|
Low-set ears, Carious teeth, Long philtrum, Macrotia, Micrognathia, Narrow mouth, Prominent nasal... |
ORPHA:96097 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Wide nasal bridge, Depressed nasal bridge, Micrognathia, Large fontanelles, Neonatal death, Delay... |
OMIM:614887 |
| Kniest Dysplasia |
|
Depressed nasal bridge, Conductive hearing impairment, Umbilical hernia, Respiratory distress, Re... |
OMIM:156550 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Low-set, posteriorly rotated ears, Anteverted nares, Spina bifida oc... |
ORPHA:1185 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Protrudin... |
OMIM:242860 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Recurrent otitis media, Rec... |
OMIM:619680 |
| Hypoglossia-Hypodactyly Syndrome |
|
Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath... |
ORPHA:989 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, Orofacial cleft, Brachycephaly, ... |
OMIM:601701 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Short chin, Long philtrum, Agenesis of corpus callosum, Posteriorly rotated ears, Short nose |
OMIM:300887 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Low-set ears, Depressed nasal bridge, Anal stenosis, Cerebellar atrophy, Cupped ear, Long philtru... |
OMIM:614080 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Hypoplasia of the zygomatic bone, Velopharyngeal insufficiency, Dislocated radial h... |
OMIM:620663 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Meckel Syndrome 14 |
|
Low-set ears, Microretrognathia, Retrognathia, Anteverted nares, Micrognathia, Cyanosis |
OMIM:619879 |
| Pentasomy X |
|
Wide nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Plagiocephaly |
ORPHA:11 |
| Developmental And Epileptic Encephalopathy 65 |
|
Ventriculomegaly, Plagiocephaly, Tented upper lip vermilion, Cerebellar atrophy |
OMIM:618008 |
| Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Dental crowding, Premature graying of hair, Furrowed tongue, Anteve... |
ORPHA:769 |
| White-Sutton Syndrome |
|
Pointed chin, Depressed nasal bridge, Broad nasal tip, Cerebellar atrophy, Downturned corners of ... |
ORPHA:468678 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu valgum, Hypoplasia of teeth, Carious teeth, Genu varum |
OMIM:613312 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Cryptorchidism, Short nose,... |
OMIM:618454 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Low-set ears, Hearing impairment, Narrow mouth, Cryptorchidism, Fragile skin, High palate, Short ... |
OMIM:601776 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of co... |
ORPHA:3301 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Steatorrhea, Allergic rhinitis, Jaundice, Carious teeth |
OMIM:612714 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Tooth malposition, Anosmia, Failure of eruption of permanent teeth, Single naris, Hy... |
ORPHA:2250 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Depressed nasal bridge, Cleft lip, Broad nasal tip, Cupped ear, Decreased response ... |
OMIM:618223 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Tessier cleft, Hypoplasia of the ear cartilage, Lip pit, Dimple chin, Supernumerary nipple, Front... |
ORPHA:1236 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Choanal atresia, Microglossia, Anteriorly placed anus, Delayed cran... |
OMIM:151050 |
| Dubowitz Syndrome |
|
Wide nasal bridge, Low-set ears, Carious teeth, Broad nasal tip, Velopharyngeal insufficiency, De... |
OMIM:223370 |
| X-Linked Intellectual Disability, Snyder Type |
|
Low-set ears, Narrow mouth, Cryptorchidism, Everted lower lip vermilion, High palate, Bulbous nos... |
ORPHA:3063 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Recurrent upper respiratory tract infections |
OMIM:263000 |
| Multiple Synostoses Syndrome 1 |
|
Asymmetry of the mouth, Hypoplastic nasal septum, Wide nasal bridge, Bilateral conductive hearing... |
OMIM:186500 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Retrognathia, Trigonocephaly, Micrognathia, Decreased calvarial ossification, Cran... |
OMIM:618265 |
| Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Micrognathia, Sensorineural he... |
ORPHA:314588 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Plagiocephaly, Everted lower lip vermilion |
OMIM:617768 |
| Pallister-Killian Syndrome |
|
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Everted lower lip... |
OMIM:601803 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Ventriculomegaly, Cerebellar atrophy, Large earlobe, Micrognathia, Facial telangiectasia, Short n... |
OMIM:615851 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Concave nasal ridge |
OMIM:245590 |
| Down Syndrome |
|
Narrow mouth, Protruding tongue, Open mouth, Round ear, Celiac disease, Anal atresia, Duodenal at... |
ORPHA:870 |
| 15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Abnormal pinna morphology, Abnormal palate morphology |
ORPHA:261183 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Depressed nasal bridge, Goiter, Respiratory distress, Umbilical hernia, Prolonged neonatal jaundi... |
ORPHA:226313 |
| Goldberg-Shprintzen Syndrome |
|
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge,... |
OMIM:609460 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Hearing impairment, Abnormal dental enamel morphology, Malar flattening, Pro... |
ORPHA:3258 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Short ear, Bulbous nose, Anteverted nares, Narrow mouth... |
ORPHA:314647 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:254210 |
| Cardiofaciocutaneous Syndrome 1 |
|
Low-set ears, Abnormality of the dentition, Depressed nasal bridge, Dental malocclusion, Hearing ... |
OMIM:115150 |
| Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Ventriculomegaly, Hearing impairment, Encephalocele, Hydrocephalus, Holop... |
ORPHA:93274 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Low-set ears, Abnormal helix morphology, Micrognathia, Cryptorchidism, Abnormal antihelix morphol... |
ORPHA:261337 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Low-set ears, Bifid uvula, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, ... |
OMIM:618089 |
| Pseudohypoparathyroidism, Type Ic |
|
Depressed nasal bridge, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Agenesis of corpus callosum |
OMIM:619466 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Low-set ears, Epistaxis, Plagiocephaly, Tented philtrum, Cerebellar vermis atrophy, Bulbous nose,... |
ORPHA:495818 |
| Trisomy 10P |
|
Low-set ears, Depressed nasal bridge, Abnormal auditory evoked potentials, Retrognathia, Abnormal... |
ORPHA:171929 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Brachycephaly |
OMIM:309530 |
| B4Galt1-Cdg |
|
Wide nasal bridge, Low-set ears, Long philtrum, Thin upper lip vermilion, Cerebellar hypoplasia, ... |
ORPHA:79332 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Synostosis of carpal bones, Delaye... |
ORPHA:289 |
| Intellectual Disability, Buenos-Aires Type |
|
Wide nasal bridge, Abnormal calvaria morphology, Dental malocclusion, Umbilical hernia, Open bite... |
ORPHA:3079 |
| Houge-Janssens Syndrome 3 |
|
Ventriculomegaly, Plagiocephaly, Broad nasal tip, Umbilical hernia, High palate, Short philtrum, ... |
OMIM:618354 |
| Eec Syndrome |
|
Choanal atresia, Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, De... |
ORPHA:1896 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Cerebellar atrophy, Increased CSF lactate, Increased CSF lysine concentration, ... |
OMIM:616034 |
| Micro Syndrome |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Macrotia, Low-set, posteriorly rotated ears, Ant... |
ORPHA:2510 |
| Developmental And Epileptic Encephalopathy 75 |
|
Wide nasal bridge, Short chin, Anteverted nares, Open mouth, Prolonged neonatal jaundice, Short p... |
OMIM:618437 |
| Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Joubert Syndrome 6 |
|
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dilated fourth ventricle, Elongat... |
OMIM:610688 |
| Seckel Syndrome |
|
Abnormal earlobe morphology, Tooth agenesis, Abnormal dental enamel morphology, Absent earlobe, M... |
ORPHA:808 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Natal tooth, Sensorineural hearing impairment, Patellar dislocation, Motor stereot... |
ORPHA:353281 |
| Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Respiratory distress, Apnea, Sensorineural hearing impairment, Elevated CSF n... |
ORPHA:79097 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor, Ectodermal dysplasia |
OMIM:300291 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Low-set ears, Ventriculomegaly, Retrognathia, Encephalocele, Death in childhood, Death in infancy... |
OMIM:614643 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate, Bile duct proliferation, Dandy-Walker malfo... |
OMIM:607361 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nasal bridge, Retrognathia, Long philtrum, Delayed cranial suture closure, Depressed nasal t... |
ORPHA:2995 |
| Lathosterolosis |
|
Chiari malformation, Downturned corners of mouth, Long philtrum, Hearing impairment, Bulbous nose... |
ORPHA:46059 |
| Osteogenesis Imperfecta, Type Xviii |
|
Wide nasal bridge, Abnormality of the dentition, Micrognathia, Wormian bones |
OMIM:617952 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
| Opitz Gbbb Syndrome |
|
Wide nasal bridge, Low-set ears, Cleft lip, Natal tooth, Hearing impairment, Long philtrum, Ankyl... |
ORPHA:2745 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Xerostomia, Hearing impairment, Cupped ear, Widely spaced teeth, Enamel hypoplasia... |
OMIM:620193 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Hearing impairment, Micrognathia, Abnormal pyramidal tract morphology, Fronta... |
OMIM:256600 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Ventriculomegaly, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Apnea, Tented u... |
ORPHA:521426 |
| Diprosopus |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1681 |
| Diaphanospondylodysostosis |
|
Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Respiratory distress, Micrognathia, ... |
OMIM:608022 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Cleft upper lip, Cerebellar dysplasia, Encephalocele, Death in infancy, Agenesi... |
OMIM:613150 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Underdeveloped nasal alae, Re... |
OMIM:604173 |
| Native American Myopathy |
|
Bifid uvula, Conductive hearing impairment, Downturned corners of mouth, Micrognathia, Submucous ... |
ORPHA:168572 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Hypoplasia of the zygomatic bone, Large earlobe, Malar prominence, Wide mouth, Mandibular prognat... |
ORPHA:2715 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... |
OMIM:605809 |
| Icf Syndrome |
|
Low-set ears, Depressed nasal bridge, Umbilical hernia, Micrognathia, Protruding tongue, Macroglo... |
ORPHA:2268 |
| Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... |
ORPHA:2909 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Ventriculomegaly, Long philtrum, Micrognathia, Apnea, Tented upper lip vermilion, S... |
OMIM:617527 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum, Hydroc... |
OMIM:617542 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Cleft lip, Dental malocclusion, Downturn... |
OMIM:616894 |
| Familial Adenomatous Polyposis 1 |
|
Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... |
OMIM:175100 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Low-set ears, Inferior cerebellar vermis hypoplasia, Hearing impairm... |
OMIM:607932 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Erythema, Carious teeth, Sensorine... |
ORPHA:659 |
| Pallister-Hall Syndrome |
|
Natal tooth, Atresia of the external auditory canal, Cryptorchidism, Neonatal death, Anal atresia... |
OMIM:146510 |
| Joubert Syndrome With Oculorenal Defect |
|
Cerebellar vermis hypoplasia, Low-set, posteriorly rotated ears, Anteverted nares, Apnea, Promine... |
ORPHA:2318 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Long philtrum, Underdeveloped nasal alae, Decreased response to growth ho... |
OMIM:616007 |
| Congenital Myopathy 22A, Classic |
|
Wide nasal bridge, Dental crowding, Scaphocephaly, Micrognathia, Open mouth, Neonatal death, Norm... |
OMIM:620351 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Low-set, posteriorly rotated ears, Hearing abnormality, Cryptorchidism, Ev... |
ORPHA:1912 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Intestinal malrotation, Micrognathia, Decreased calvarial ossification, Thin up... |
OMIM:617866 |
| Microcephaly-Micromelia Syndrome |
|
Low-set ears, Micrognathia, Narrow mouth, Humeroradial synostosis, Neonatal death, Convex nasal r... |
OMIM:251230 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Low-set ears, Cerebellar vermis hypoplasia, Plagiocephaly, Lateral ventricle dilatation, Abnormal... |
ORPHA:300570 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Low-set ears, Anteriorly placed anus, Bulbous nose, Short lingual frenulum, Brachycephaly, Poster... |
OMIM:608980 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Low-set ears, Depressed nasal bridge, Hearing impairment, Decreased response to growth hormone st... |
OMIM:614114 |
| Pachyonychia Congenita 2 |
|
Angular cheilitis, Natal tooth, Oral leukoplakia |
OMIM:167210 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Overfolded helix, Brachycephaly, Wide mouth, Supernumerary nipple |
OMIM:616083 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Plagiocephaly, Cerebellar atrophy, Protruding ear, Narrow palate, Macrotia |
OMIM:617481 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Recurrent upper respiratory tract infections, Periodontitis, Gingival overgrowt... |
OMIM:217090 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Brachycephal... |
ORPHA:2377 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Wide nasal bridge, Ventriculomegaly, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose... |
OMIM:615803 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Wide nasal bridge, Abnormal temper tantrums, Dental malocclusion, Long philtrum, Micrognathia, Ag... |
ORPHA:73223 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... |
OMIM:204690 |
| Tarp Syndrome |
|
Wide nasal bridge, Low-set ears, Meckel diverticulum, Prominent antihelix, Anteverted nares, Micr... |
OMIM:311900 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Carious teeth, Natal tooth, Branchial cyst, Atresia of the external auditory canal,... |
OMIM:620186 |
| Aica-Ribosiduria |
|
Thin upper lip vermilion, Low-set ears, Brachycephaly, Wide mouth |
ORPHA:250977 |
| Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Holoprosencephal... |
ORPHA:818 |
| Congenital Toxoplasmosis |
|
Jaundice, Ventriculomegaly, Hydrocephalus, Hearing impairment |
ORPHA:858 |
| Cadds |
|
Ventriculomegaly, Cerebellar atrophy, Micrognathia, Sensorineural hearing impairment, Short nose |
ORPHA:369942 |
| High Altitude Pulmonary Edema |
|
Vertigo, Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia |
ORPHA:330012 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Wide nasal bridge, Plagiocephaly, Long philtrum, Micrognathia, Smooth philtrum |
OMIM:618821 |
| Oslam Syndrome |
|
Radioulnar synostosis, Carious teeth |
ORPHA:2760 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide nasal bridge, Low-set ears, Broad nasal tip, Retrognathia, Prominent crus of helix, Elbow fl... |
OMIM:619194 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Bulbous nose, Anteverted nares, Microgna... |
OMIM:620224 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Carious teeth, Fragile skin, Oral mucosal blisters |
ORPHA:79410 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Long philtrum, Intestinal malrotation, Prominent nasal bridge, Cryptorchidism,... |
ORPHA:401935 |
| Tolchin-Le Caignec Syndrome |
|
Wide nasal bridge, Low-set ears, Abnormal vestibular function, Prominent nose, Micrognathia, Narr... |
OMIM:618971 |
| Congenital Myopathy 22B, Severe Fetal |
|
Wide nasal bridge, Low-set ears, Dental crowding, Retrognathia, Respiratory distress, Micrognathi... |
OMIM:620369 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Ventriculomegaly, Cerebellar atrophy, Retrognathia, Death in... |
OMIM:614576 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
High, narrow palate, Dental crowding, Widely spaced teeth, Frontal bossing, Narrow nasal bridge, ... |
OMIM:300967 |
| Orofaciodigital Syndrome X |
|
Depressed nasal bridge, Coalescence of tarsal bones, Retrognathia, Cleft palate |
OMIM:165590 |
| C Syndrome |
|
Wide nasal bridge, Low-set ears, Trigonocephaly, Anteverted nares, Micrognathia, Cryptorchidism, ... |
OMIM:211750 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Malar flattening, Cryptorchidism, Mandibular prognathia... |
OMIM:614613 |
| Craniofrontonasal Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Coronal craniosynostosis, Bifid nasal tip, Cleft... |
OMIM:304110 |
| Lissencephaly 5 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Hearing impairment, Cerebellar hemisphere ... |
OMIM:615191 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Chiari malformation, Cryptorchidism, Frontal encephalocele |
ORPHA:261102 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Long philtrum, Decreased testicular size, Anteverted nares, Prominent nasal b... |
OMIM:615663 |
| Renpenning Syndrome 1 |
|
Wide nasal bridge, Cupped ear, Hearing impairment, Macrotia, Macrodontia, Decreased testicular si... |
OMIM:309500 |
| Peho Syndrome |
|
Cerebellar atrophy, Retrognathia, Tented upper lip vermilion, Open mouth, Short nose |
OMIM:260565 |
| Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Malar flattening, Frontal bossing, Short nose |
OMIM:614524 |
| Cornelia De Lange Syndrome 6 |
|
Low-set ears, Macrodontia of permanent maxillary central incisor, Cleft lip, Long philtrum, Macro... |
OMIM:620568 |
| Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Narrow mouth, Median cleft upper lip, Short nose, Cleft ... |
ORPHA:1234 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Trisomy 18 |
|
Pointed helix, Choanal atresia, Microretrognathia, Chiari malformation, Low-set, posteriorly rota... |
ORPHA:3380 |
| Contractural Arachnodactyly, Congenital |
|
Crumpled ear, Scaphocephaly, Micrognathia, Brachycephaly, Dolichocephaly, High palate, Frontal bo... |
OMIM:121050 |
| Alpha-Mannosidosis, Infantile Form |
|
Depressed nasal bridge, Chiari malformation, Cerebellar atrophy, Cranial hyperostosis, Widely spa... |
ORPHA:309282 |
| Miller-Dieker Syndrome |
|
Abnormal upper lip morphology, Anteverted nares, Short nose |
ORPHA:531 |
| Bcard Syndrome |
|
Low-set ears, Abnormality of the dentition, Ventriculomegaly, Pointed chin, Downturned corners of... |
OMIM:612394 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ventriculomegaly, Plagiocephaly, Cerebellar atrophy, Delayed eruption of teeth, Hearing impairmen... |
OMIM:301072 |
| Mogs-Cdg |
|
Retrognathia, Respiratory distress, Apnea, Prominent occiput, Hypoventilation, Sensorineural hear... |
ORPHA:79330 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Low-set ears, Hypoplasia of the maxilla, Broad nasal tip, Dental crowding, Broad columella, Long ... |
OMIM:617402 |
| Meier-Gorlin Syndrome 3 |
|
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Patellar hypoplasia, Micrognathia, Na... |
OMIM:613803 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dental crowding, Delayed cranial suture closure, Elbow flexion contracture, Micrognathia, Reduced... |
OMIM:248370 |
| Thanatophoric Dysplasia |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Hearing impairment, Hydrocephalus, Fronta... |
ORPHA:2655 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Wide nasal bridge, Low-set ears, Abnormality of the outer ear, Plagiocephaly, Downturned corners ... |
OMIM:617360 |
| Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Frontal bossing, Macroti... |
ORPHA:1340 |
| Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Natal tooth, Chiari malformation, Prominent scalp veins, Micrognathia, Narrow mouth... |
OMIM:264090 |
| Stankiewicz-Isidor Syndrome |
|
Low-set ears, Retrognathia, Hearing impairment, Prominent nose, Micrognathia, Cryptorchidism, Pin... |
OMIM:617516 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Long philtrum, Frontal bossing, Recurrent otitis media, High palate, Hydr... |
OMIM:605309 |
| Oromandibular Dystonia |
|
Abnormality of the nose, Abnormal lip morphology, Abnormality of the temporomandibular joint, Res... |
ORPHA:93958 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment, Carious teeth |
OMIM:126550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Low-set ears, Ventriculomegaly, Occipital encephalocele, Atresia of the external auditory canal, ... |
OMIM:236670 |
| Lelis Syndrome |
|
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue |
ORPHA:140936 |
| Coffin-Siris Syndrome 1 |
|
Low-set ears, Short chin, Hearing impairment, Cutis marmorata, Cryptorchidism, High palate, Duode... |
OMIM:135900 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental malocclusion, Dental crowding, Progeroid facial appearance, Micrognathi... |
OMIM:614008 |
| Radio-Renal Syndrome |
|
High, narrow palate, Depressed nasal bridge, Downturned corners of mouth, Retrognathia, Respirato... |
ORPHA:3015 |
| Lig4 Syndrome |
|
Wide nasal bridge, Prominent nose, Cryptorchidism, Chronic sinusitis, Telangiectasia, Brachycepha... |
OMIM:606593 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Low-set ears, Depressed nasal bridge, Broad nasal tip, Anteverted nares, Malar flattening, Wormia... |
OMIM:300232 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Low-set ears, Hypoplasia of the zygomatic bone, Solitary media... |
ORPHA:556955 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, Abnormali... |
ORPHA:1101 |
| Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Underdevelop... |
ORPHA:920 |
| Iniencephaly |
|
Low-set ears, Spinal dysraphism, Myelomeningocele, Abnormal occipital bone morphology, Narrow mou... |
ORPHA:63259 |
| Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Respiratory distress, Chronic sinusitis, Chronic rh... |
ORPHA:922 |
| Specc1L-Related Hypertelorism Syndrome |
|
Wide nasal bridge, Low-set ears, Abnormal helix morphology, Dimple chin, Long philtrum, Umbilical... |
ORPHA:1519 |
| Microphthalmia, Syndromic 2 |
|
Bifid uvula, Bifid nasal tip, Broad nasal tip, Dental malocclusion, Delayed eruption of teeth, Lo... |
OMIM:300166 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Depressed nasal ridge, Mandibular prognathia, Short nose, Wide nose |
ORPHA:2831 |
| Zimmermann-Laband Syndrome 1 |
|
Wide nasal bridge, Low-set ears, Mandibular prognathia, Broad nasal tip, Delayed eruption of teet... |
OMIM:135500 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Cerebellar vermis atrophy, Cerebellar hypoplasia, Anteverted ears, Mandibular prognathia, Short nose |
OMIM:618087 |
| Faciocardiorenal Syndrome |
|
Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Narrow mouth, Protruding ear, Smooth... |
ORPHA:1973 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Low-set ears, Cerebellar atrophy,... |
ORPHA:369837 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Depressed nasal bridge, Ventriculomegaly, Microglossia, Plagiocephaly, Retrognathia, Broad nasal ... |
OMIM:254940 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Low-set ears, Depressed nasal ridge, Hydrocephalus, Frontal bossing, Short nose |
OMIM:300863 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Low-set ears, Depressed nasal bridge, Long philtrum, Respiratory distress, Prominent occiput, Dol... |
OMIM:617895 |
| Deeah Syndrome |
|
Low-set ears, Narrow palate, Extra-axial cerebrospinal fluid accumulation, Retrognathia, Long phi... |
OMIM:619004 |
| 17Q24.2 Microdeletion Syndrome |
|
Wide nasal bridge, Tooth malposition, Otosclerosis, Abnormality of the ankle, Recurrent otitis me... |
ORPHA:529962 |
| Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Posterior plagiocephaly, Carious teeth, Lateral ventricle dilatation, Short chin, A... |
OMIM:615873 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Open mouth, Everted lower lip vermilion, Uplifted earlobe, Cleft lip, Plagiocephaly, Cleft lower ... |
OMIM:280000 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent ear helix, Ankyloglossia, Micrognathia, Short lingual frenulum, Narrow mouth, High pala... |
ORPHA:740 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cervical myelopathy, Bifid uvula, Hearing impairment, Respiratory distress, Malar flattening, Cle... |
OMIM:183900 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Depressed nasal bridge, Respiratory distress, Aplasia of the epiglottis, Median cle... |
OMIM:617088 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Hearing impairment, Angiokeratoma, Telangiectasia, Juvenile rheumatoid... |
OMIM:266270 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Annular pa... |
ORPHA:264450 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Short nose |
DECIPHER:52 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Microglossia, Micrognathia, Thick anterior alveolar ridges, Hydrocephalus, Spina... |
ORPHA:2839 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Plagiocephaly, Abnormal dental enamel morphology, Macrodontia... |
ORPHA:2916 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis |
ORPHA:335 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Plagiocephaly, Downturned corners of mouth, Broad nasal tip, Intestinal malrot... |
ORPHA:457193 |
| Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Everted lower ... |
ORPHA:534 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Low-set ears, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Cryp... |
OMIM:614732 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Pterygium, Micrognathia, Narrow mouth, Malar flattening, Neonatal death, Poste... |
OMIM:224410 |
| Coach Syndrome 2 |
|
Apneic episodes in infancy, Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:619111 |
| Rubinstein-Taybi Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Low-set ears, Carious teeth, Hearing impairment,... |
ORPHA:783 |
| Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Hearing impairment, Widely spaced primary teeth, Progeroid facial a... |
ORPHA:90321 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Tooth malposition, Choanal atresia, Hearing impairment, Micrognathia, Brachycephaly, Choanal sten... |
OMIM:156400 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Wide nasal bridge, Low-set ears, Microretrognathia, Carious teeth, Dental malocclusion, Cupped ea... |
OMIM:615560 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Carious teeth, Enamel hypoplasia |
OMIM:612843 |
| Robinow Syndrome |
|
Flared nostrils, Tooth malposition, Low-set ears, Ankyloglossia, Marked delay in eruption of perm... |
ORPHA:97360 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Broad nasal tip, Failure of eruption of permanent teeth, Carpal synostosis, Ante... |
OMIM:272460 |
| Chitayat Syndrome |
|
Depressed nasal bridge, Respiratory distress, Anteverted nares, Short columella, Thick vermilion ... |
OMIM:617180 |
| Peters Plus Syndrome |
|
Micrognathia, Cryptorchidism, Anal atresia, Short nose, Low-set, posteriorly rotated ears, Thin u... |
ORPHA:709 |
| Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Delayed closure of the anterior fontanelle, Calvarial osteosclerosis |
OMIM:244460 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Craniofacial osteosclerosis, Bulbous nose, Tented upper lip vermilion, Agenesis... |
OMIM:618476 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Depressed nasal bridge, Notched primary central incisor, Cleft lip |
OMIM:620519 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Cerebellar hypoplasia, Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Cerebellar atrophy, Retrognathia, Micrognathia, Narrow mouth, Protruding tongue, Ex... |
OMIM:608779 |
| Trichohepatoneurodevelopmental Syndrome |
|
Low-set ears, Cholelithiasis, Plagiocephaly, Dental crowding, Downturned corners of mouth, Widely... |
OMIM:618268 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Sensorineural hear... |
OMIM:614207 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Erythema, Recurrent otitis media, Cleft soft palate, Micrognathia, Narrow mouth, Cr... |
OMIM:619503 |
| Hurler Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Hearing impairment, Cranial hyperosto... |
OMIM:607014 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, High palate, Cryptorchidism |
ORPHA:1145 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Micrognathia, Cryptorchidism, Mandibular prognathia, Short nose |
ORPHA:496790 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Depressed nasal bridge, Mandibular prognathia, Diastema, Thick lower lip vermilion,... |
OMIM:301040 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Xerostomia, Broad nasal tip, Selective... |
OMIM:129900 |
| Fraser Syndrome 1 |
|
Low-set ears, Atresia of the external auditory canal, Abnormal middle ear morphology, Cryptorchid... |
OMIM:219000 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Angioedema, Swollen lip |
ORPHA:100057 |
| Semilobar Holoprosencephaly |
|
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Dec... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Dec... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Dec... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Dec... |
ORPHA:93924 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| 8P23.1 Microdeletion Syndrome |
|
Wide nasal bridge, Low-set ears, Micrognathia, Prominent nasal bridge, Cryptorchidism, Thin vermi... |
ORPHA:251071 |
| Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Cerebellar atrophy, Olivopontocerebellar atrophy |
OMIM:183090 |
| Hemimegalencephaly |
|
Ventriculomegaly, Cranial asymmetry |
ORPHA:99802 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Downturned corners of mouth, Low-set, posteriorly rotated ears, Thin vermilion border, Spina bifi... |
ORPHA:2983 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Large earlobe, Anteverted nares,... |
ORPHA:1675 |
| Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
| Hajdu-Cheney Syndrome |
|
Low-set ears, Dental malocclusion, Conductive hearing impairment, Long philtrum, Dislocated radia... |
OMIM:102500 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Short nose, Macrotia |
OMIM:620292 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Wide nasal bridge, Plagiocephaly, Enlarged naris, Low-set, posteriorly rotated ears, Anteverted n... |
ORPHA:371364 |
| Isotretinoin-Like Syndrome |
|
Atresia of the external auditory canal, Anotia, Anteverted nares, Micrognathia, Aplasia/Hypoplasi... |
ORPHA:2306 |
| Hoxha-Aliu Syndrome |
|
Wide nasal bridge, Pointed chin, Low-set ears, Cupped ear, Brachycephaly, Uplifted earlobe, High ... |
OMIM:620662 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Hyperactivity, Submucous cleft hard palate |
OMIM:619239 |
| Arima Syndrome |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Occipital meningocele, Tachypnea, Dyspnea... |
OMIM:243910 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2476 |
| Mycophenolate Mofetil Embryopathy |
|
Tessier cleft, Hearing impairment, Atresia of the external auditory canal, Anotia, Micrognathia, ... |
ORPHA:268249 |
| X-Linked Intellectual Disability, Armfield Type |
|
Depressed nasal bridge, Mandibular prognathia, Downturned corners of mouth, Macrotia, Long ear, M... |
ORPHA:85276 |
| Rothmund-Thomson Syndrome Type 2 |
|
Abnormality of the dentition, Erythema, Carious teeth, Joint dislocation, Delayed eruption of tee... |
ORPHA:221016 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia |
ORPHA:91359 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Wrinkly Skin Syndrome |
|
Low-set ears, Congenital hip dislocation, Carious teeth, Broad nasal tip, Delayed eruption of tee... |
ORPHA:2834 |
| Esophageal Atresia |
|
Barrett esophagus, Choanal atresia, Cleft lip, Hearing impairment, Intestinal malrotation, Respir... |
ORPHA:1199 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Abnormal cerebellum morpholo... |
OMIM:211530 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Cryp... |
OMIM:616910 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Low-set ears, Ventriculomegaly, Cerebellar atrophy, Frontal bossing, Prominent nasal bridge, Mala... |
OMIM:617011 |
| Gardner Syndrome |
|
Abnormality of the dentition, Esophageal carcinoma, Duodenal polyposis, Multiple gastric polyps, ... |
ORPHA:79665 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Low-set ears, Pointed chin, Plagiocephaly, Supernumerary nipple, Umbilical hernia, Open mouth, Te... |
OMIM:616579 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Hearing impairment, Long philtrum, Thick lower lip vermilion, Thin upper lip ver... |
ORPHA:137634 |
| Codas Syndrome |
|
Depressed nasal bridge, Ventriculomegaly, Crumpled ear, Conductive hearing impairment, Delayed er... |
OMIM:600373 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Hearing impairment, Respiratory distress, Otitis media, Sinusitis |
OMIM:606763 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ventriculomegaly, Broad nasal tip, Retrognathia, Underdeveloped nasal alae, Widely spaced teeth, ... |
ORPHA:268261 |
| Mucopolysaccharidosis Type 4 |
|
Abnormality of the dentition, Carious teeth, Joint dislocation, Hearing impairment, Abnormal dent... |
ORPHA:582 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ... |
ORPHA:958 |
| Zttk Syndrome |
|
Low-set ears, Narrow mouth, Absent gallbladder, High palate, Short nose, Hypoplasia of the maxill... |
OMIM:617140 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Coffin-Siris Syndrome |
|
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... |
ORPHA:1465 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Schimke Immuno-Osseous Dysplasia |
|
Depressed nasal bridge, Broad nasal tip, Microdontia, Abnormal intestine morphology, Abnormal pri... |
ORPHA:1830 |
| Weill-Marchesani Syndrome 1 |
|
Tooth malposition, Hypoplasia of the maxilla, Depressed nasal bridge, Abnormal dental morphology,... |
OMIM:277600 |
| Orofaciodigital Syndrome Type 1 |
|
Hearing impairment, Open bite, Micrognathia, High palate, Tarsal synostosis, Chronic otitis media... |
ORPHA:2750 |
| Floating-Harbor Syndrome |
|
Low-set ears, Carious teeth, Long nose, Celiac disease, Restlessness, Dislocated radial head, Hyp... |
ORPHA:2044 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Bilateral cryptorchidism, Decreased testicular size, Short lingual frenulum, Cya... |
ORPHA:2326 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Vertigo, Cyanosis, Dyspnea, Hypoxemia |
ORPHA:464453 |
| Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Nasal polyposis, Conductive hearing impairment, Hearing impairment, Nasal conge... |
ORPHA:244 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hearing impairment, Hydrocephalus, Calvarial osteosclerosis, Craniosynostosis, Fro... |
OMIM:259700 |
| Carpenter Syndrome 2 |
|
Low-set ears, Carious teeth, Supernumerary nipple, Narrow naris, Cryptorchidism, Sensorineural he... |
OMIM:614976 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micrognathia, Encephalocele, Malar flattening, Hydrocephalus, Cleft palate |
OMIM:224400 |
| Buratti-Harel Syndrome |
|
Low-set ears, Bifid uvula, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate... |
OMIM:619314 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Xerostomia, Anal stenosis, Selective t... |
OMIM:604292 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Hearing impairment, Camptodactyly of finger, Narrow nasal bridge, Ten... |
ORPHA:896 |
| Blomstrand Lethal Chondrodysplasia |
|
Low-set ears, Depressed nasal bridge, Synostosis of joints, Natal tooth, Long philtrum, Anteverte... |
ORPHA:50945 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Low-set ears, Short chin, Micrognathia, Cryptorchidism, Macrotia, Short nose, Wide nose, Pointed ... |
OMIM:613458 |
| Basal Cell Nevus Syndrome 1 |
|
Wide nasal bridge, Cleft upper lip, Frontal bossing, Ovarian carcinoma, Ovarian fibroma, Parietal... |
OMIM:109400 |
| Dyskeratosis Congenita |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko... |
ORPHA:1775 |
| Spinocerebellar Ataxia 1 |
|
Spinocerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar atrophy |
OMIM:164400 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Wide nasal bridge, Bifid uvula, Cerebellar vermis hypoplasia, Posterior plagiocephaly, Broad nasa... |
OMIM:620330 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Increased CSF lactate, Brachycephaly |
ORPHA:70472 |
| Tetrasomy 18P |
|
Long philtrum, Low-set, posteriorly rotated ears, Narrow mouth, Thin vermilion border, Short nose |
ORPHA:3307 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Macrotia, Anteverted nares, Partial agenesis of the corpus callosum, Hypoplasia of ... |
OMIM:234050 |
| Enamel-Renal Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... |
ORPHA:1031 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Micrognathia, Sensorineural hearing impairment, High palate, Pointed chin, Bulbous ... |
OMIM:612474 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the po... |
OMIM:620305 |
| Absent Eyebrows And Eyelashes With Impaired Intellectual Development |
|
Encephalocele, Convex nasal ridge, Short nose |
OMIM:200130 |
| Kbg Syndrome |
|
Pointed chin, Long philtrum, Underdeveloped nasal alae, Macrodontia, Anteverted nares, Prominent ... |
OMIM:148050 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the wrists, Wide cranial sutures, Enamel hypoplasia, En... |
ORPHA:289157 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Oral leukoplakia, Premature loss of teeth |
OMIM:616353 |
| 47,Xyy Syndrome |
|
Low-set ears, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Malar flattening, Crypto... |
ORPHA:8 |
| Hajdu-Cheney Syndrome |
|
Low-set ears, Periodontitis, Chiari malformation, Hearing impairment, Open bite, Micrognathia, Na... |
ORPHA:955 |
| Jacobsen Syndrome |
|
Low-set ears, Depressed nasal bridge, Annular pancreas, Flat occiput, Trigonocephaly, Anteverted ... |
OMIM:147791 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Bulbous nose, Agenesis of corpus callosum, Sensorineural hearing impairment, Co... |
OMIM:615219 |
| Machado-Joseph Disease |
|
Dilated fourth ventricle, Cerebellar atrophy |
OMIM:109150 |
| Joubert Syndrome With Hepatic Defect |
|
Low-set ears, Cerebellar vermis hypoplasia, Occipital encephalocele, Abnormal pattern of respirat... |
ORPHA:1454 |
| Rodrigues Blindness |
|
Tooth malposition, Narrow nasal bridge, Protruding ear, Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Chronic sinusitis |
OMIM:620642 |
| Cornelia De Lange Syndrome |
|
Atresia of the external auditory canal, Cutis marmorata, Micrognathia, Cryptorchidism, Sensorineu... |
ORPHA:199 |
| Silver-Russell Syndrome |
|
Low-set ears, Dental crowding, Downturned corners of mouth, Delayed cranial suture closure, Low-s... |
ORPHA:813 |
| Joubert Syndrome 1 |
|
Low-set ears, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the c... |
OMIM:213300 |
| Houge-Janssens Syndrome 1 |
|
Ventriculomegaly, Open mouth, Hydrocephalus, Pyloric stenosis |
OMIM:616355 |
| Familial Thyroid Dyshormonogenesis |
|
Depressed nasal bridge, Large posterior fontanelle, Delayed cranial suture closure, Sensorineural... |
ORPHA:95716 |
| Noonan Syndrome 3 |
|
Low-set ears, Hypoplastic nasal bridge, Bruising susceptibility, Scaphocephaly, Anteverted nares,... |
OMIM:609942 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Low-set ears, Abnormality of the outer ear, Chiari malformation, Ileal atresia, Long philtrum, Mi... |
OMIM:618820 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Wide nasal bridge, Depressed nasal bridge, Micrognathia, Brachycephaly, Thin vermilion border, Sh... |
ORPHA:2062 |
| Mucopolysaccharidosis, Type Iva |
|
Recurrent upper respiratory tract infections, Carious teeth, Hearing impairment, Widely spaced te... |
OMIM:253000 |
| 1Q21.1 Microdeletion Syndrome |
|
Wide nasal bridge, Long philtrum, Ankyloglossia, Bulbous nose, Cryptorchidism, Agenesis of corpus... |
ORPHA:250989 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Cerebellar hypoplasia, Hydrocephalus |
OMIM:618174 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Tooth malposition, Low-set ears, Dental crowding, Hearing impairment, Cleft ... |
OMIM:309800 |
| Pseudotrisomy 13 Syndrome |
|
Low-set ears, Cleft upper lip, Median cleft palate, Cryptorchidism, Encephalocele, Agenesis of co... |
OMIM:264480 |
| Achard Syndrome |
|
Brachycephaly, Micrognathia, Broad skull |
OMIM:100700 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Long philtrum, Frontal bossing, Subcutaneous hemorrhage, Mac... |
ORPHA:109 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion... |
OMIM:619854 |
| Oliver Syndrome |
|
Dental malocclusion, Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture... |
ORPHA:2920 |
| Machado-Joseph Disease Type 1 |
|
Abnormal vestibular function, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Abnormal vestibular function, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276241 |
| Say-Barber-Miller Syndrome |
|
Tooth malposition, Carious teeth, Broad nasal tip, Patellar hypoplasia, Low-set, posteriorly rota... |
ORPHA:3132 |
| Dermotrichic Syndrome |
|
Depressed nasal bridge, Macrotia, Aganglionic megacolon, Frontal bossing, Short nose |
ORPHA:99688 |
| Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Neon... |
OMIM:269860 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Large fleshy ears, Narrow mouth, Anal atresia, High palate, Short nose, Thin upper lip vermilion,... |
ORPHA:280633 |
| Papillary Tumor Of The Pineal Region |
|
Increased CSF protein concentration, Hearing abnormality, Hydrocephalus |
ORPHA:251915 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Hydrocephalus, Macrotia |
OMIM:300886 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Wide nasal bridge, Erythema, Retrognathia, Hearing impairment, Abnormal earlobe morphology, Respi... |
ORPHA:2556 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly, Occipital encephalocele |
OMIM:614416 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration |
ORPHA:77260 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... |
OMIM:150400 |
| Atelosteogenesis, Type I |
|
Low-set ears, Depressed nasal bridge, Stillbirth, Micrognathia, Cryptorchidism, Malar flattening,... |
OMIM:108720 |
| Tularemia |
|
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Otitis media, Oral ulcer |
ORPHA:3392 |
| Arterial Tortuosity Syndrome |
|
Macrotia, Respiratory distress, Esophagitis, Median cleft palate, Malar flattening, Hiatus hernia... |
ORPHA:3342 |
| Microlissencephaly-Micromelia Syndrome |
|
Long philtrum, Respiratory distress, Cerebellar hypoplasia, Hypoparathyroidism, Short nose |
ORPHA:50810 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Polyarticular arthritis, Enlargement of the wrists, Sensorineural hear... |
ORPHA:289176 |
| Prune1-Related Neurological Syndrome |
|
Low-set ears, Micrognathia, Cerebellar atrophy, Plagiocephaly |
ORPHA:544469 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Sensorineural hearing impairment |
ORPHA:2596 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Depressed nasal bridge, Progeroid facial appearance, Long philtrum, Underdeveloped nasal alae, Bu... |
OMIM:619127 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Dental crowding, Frontal bossing |
OMIM:619264 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hearing impairment, Bruising susceptibility, Premature loss of primary... |
ORPHA:667 |
| Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... |
ORPHA:50815 |
| Fucosidosis |
|
Abnormality of the dentition, Hearing impairment, Vascular skin abnormality, Brachycephaly, Acroc... |
ORPHA:349 |
| Schneckenbecken Dysplasia |
|
Umbilical hernia, Short nose, Malar flattening, Stillbirth, Cleft palate |
OMIM:269250 |
| Coffin-Siris Syndrome 12 |
|
Low-set ears, Velopharyngeal insufficiency, Delayed cranial suture closure, Micrognathia, Sensori... |
OMIM:619325 |
| Lead Poisoning |
|
Attention deficit hyperactivity disorder, Miscarriage, Delayed eruption of teeth, Anorexia |
ORPHA:330015 |
| Melanosis, Neurocutaneous |
|
Death in infancy, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal adenocarcinoma, Duodenal polyposis, Supernumerary tooth, Multiple gastric polyps, Odonto... |
ORPHA:247806 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Chiari malformation, Annular pancreas, Bruising susceptibility, Hydrocephalus,... |
OMIM:618162 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Absent nipple, Umbilical hernia, Hydroce... |
OMIM:104350 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Abnormality of the dentition, Plagiocephaly, Conductive hearing impairment, Re... |
ORPHA:2785 |
| Hsd10 Disease, Infantile Type |
|
Hearing impairment, Cyanosis, Dysphagia, Restlessness, Paroxysmal bursts of laughter |
ORPHA:391428 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Ventriculomegaly, Everted upper lip vermilion, Hyperplasia of the maxilla... |
ORPHA:513456 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Low-set ears, Depressed nasal bridge, Skull asymmetry, Tented upper lip vermilion, Malar flatteni... |
OMIM:616723 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Xerostomia, Telangiectasia of the skin, Arthritis, Dysphagia |
ORPHA:220393 |
| Incontinentia Pigmenti |
|
Erythema, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental enamel morphology, ... |
ORPHA:464 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in childhood, Death in infancy, High palate, Mandibular prognathia |
OMIM:620278 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Brachycephaly |
OMIM:309541 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Chiari type I malformation, Plagiocephaly, Agenesis of corpus callosum |
ORPHA:459074 |
| Cousin Syndrome |
|
Low-set ears, Hydranencephaly, Microglossia, Microtia, first degree, Hearing impairment, Stenosis... |
OMIM:260660 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Cyanosis, Sensorineural hearing impairment, Dyspl... |
ORPHA:488627 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Absent tragus, Atresia of the external ... |
OMIM:603457 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Increased CSF lactate |
OMIM:612075 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Bulbous nose, Prominent nose, M... |
ORPHA:3047 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Paroxysmal dyspnea, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Low-set ears, Depressed nasal bridge, Semilobar holoprosencephaly, Conductive hearing impairment,... |
OMIM:618500 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dental crowding, Retrognathia, Long p... |
OMIM:617157 |
| Jacobsen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Agenesis of corpus callosum, Duodenal atresia... |
ORPHA:2308 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Intestinal polyposis, Lymphoid nodular hyperplasia, Frontal bossing, Shor... |
ORPHA:210548 |
| Fanconi Anemia, Complementation Group L |
|
Wide nasal bridge, Low-set ears, Anotia, Depressed nasal tip, Micrognathia, Cerebellar hypoplasia... |
OMIM:614083 |
| Machado-Joseph Disease Type 3 |
|
Abnormal vestibular function, Dilated fourth ventricle, Cerebellar atrophy |
ORPHA:276244 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Depressed nasal bridge, Cerebellar vermis hypoplasia, Brachycephaly, Low-set ears |
OMIM:612379 |
| Histiocytoid Cardiomyopathy |
|
Cerebellar malformation, Cyanosis, Polycystic ovaries, Agenesis of corpus callosum, Tachypnea, Hy... |
ORPHA:137675 |
| Acrofacial Dysostosis 1, Nager Type |
|
Low-set ears, Conductive hearing impairment, Velopharyngeal insufficiency, Retrognathia, Cleft up... |
OMIM:154400 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dyspnea, Ventriculomegaly, Plagiocephaly |
OMIM:308350 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Low-set ears, Carious teeth, Natal tooth, Micrognathia, Sensorineural hearing impairment, Patella... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Low-set ears, Carious teeth, Natal tooth, Micrognathia, Sensorineural hearing impairment, Patella... |
ORPHA:353277 |
| Al-Raqad Syndrome |
|
Thin upper lip vermilion, Low-set ears, Narrow mouth, Short nose |
OMIM:616459 |
| Cockayne Syndrome A |
|
Ventriculomegaly, Carious teeth, Dental malocclusion, Cerebellar atrophy, Progeroid facial appear... |
OMIM:216400 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Chronic CSF lymphocytosis, Petechiae, Multiple gastric polyps, CSF lymphocytic pleiocyt... |
OMIM:225750 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Orofacial cleft, Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Low-set ears, Cerebellar vermis hypoplasia, Plagiocephaly, Dental crowding, Retrognathia, Open bi... |
OMIM:620083 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Anteverted nares, Gingival overgrowth, Open mouth, Cyanosis, Apnea, Ankle clonus, Impulsivity, Hy... |
OMIM:620423 |
| Mend Syndrome |
|
Low-set ears, Microretrognathia, Bulbous nose, Micrognathia, Prominent nasal bridge, Cryptorchidi... |
OMIM:300960 |
| Stuve-Wiedemann Syndrome 1 |
|
Wide nasal base, Low-set ears, Carious teeth, Smooth tongue, Pursed lips, Premature skin wrinklin... |
OMIM:601559 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Cleft upper lip, Hypopituitarism, Cryptorchidism, Anterior pituitary... |
OMIM:615849 |
| Craniofaciofrontodigital Syndrome |
|
Depressed nasal bridge, Long philtrum, Premature skin wrinkling, Respiratory distress, Gingival o... |
ORPHA:363705 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Intestinal malrotation, Decreased testicular size, Cleft soft palate... |
OMIM:619321 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Decreased response to growth hormone stimu... |
OMIM:610978 |
| Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
| Bartsocas-Papas Syndrome 1 |
|
Tessier cleft, Low-set ears, Hypoplasia of the maxilla, Anal stenosis, Cupped ear, Popliteal pter... |
OMIM:263650 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Small pituitary gland, Inferior cerebellar vermis hypoplasia, Cerebe... |
OMIM:619476 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Triangular mouth, Exertional dyspnea, High palate, Mandibu... |
ORPHA:98915 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Low-set ears, Bilateral choanal atresia, Underdeveloped nasal alae, Recurrent otitis media, Ankyl... |
OMIM:619525 |
| D-Bifunctional Protein Deficiency |
|
Low-set ears, Depressed nasal bridge, Retrognathia, Long philtrum, Delayed cranial suture closure... |
OMIM:261515 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Low-set ears, Long philtrum, Encephalocele, Exencephaly... |
ORPHA:2211 |
| Weill-Marchesani Syndrome 2 |
|
Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Depressed nasal bridge, Elbow flexio... |
OMIM:608328 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland, Ventriculomegaly, Vertigo, Hydrocephalus, Nasofrontal encephalocele, Sever... |
OMIM:614195 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Severe sensorineural hearing impairment, Infantile sensorineural hearing im... |
ORPHA:254875 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis |
ORPHA:1302 |
| Corneodermatoosseous Syndrome |
|
Erythema, Carious teeth, Hearing impairment, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia |
ORPHA:70587 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst |
OMIM:615181 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Delayed cranial suture closure, Thick upper lip vermilion, Dislocation of the femoral head, Micro... |
OMIM:210730 |
| Rothmund-Thomson Syndrome Type 1 |
|
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Patellar hypoplasia, Toot... |
ORPHA:221008 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Cutis marmorata, Intestinal obstruction, Purpura, Arthritis, Sinusitis, Acrocyan... |
ORPHA:183 |
| Developmental And Epileptic Encephalopathy 84 |
|
Pointed chin, Ventriculomegaly, Plagiocephaly, Thick lower lip vermilion, Large earlobe, Smooth p... |
OMIM:618792 |
| Witteveen-Kolk Syndrome |
|
Flared nostrils, Hearing impairment, Hyperplasia of the maxilla, Narrow mouth, Open mouth, Glue e... |
OMIM:613406 |
| White-Kernohan Syndrome |
|
Low-set ears, Depressed nasal bridge, Retrognathia, Anteriorly placed anus, Underdeveloped nasal ... |
OMIM:619426 |
| Fraser Syndrome 3 |
|
Low-set ears, Micrognathia, Simple ear, Hydrocephalus, Convex nasal ridge, Stillbirth, Wide nose |
OMIM:617667 |
| Pseudoaminopterin Syndrome |
|
Hypoplasia of the antihelix, Absent earlobe, Low-set, posteriorly rotated ears, Micrognathia, Pro... |
ORPHA:221120 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Choanal atresia, Short chin, Underdeveloped nasal alae, Absent gallbladder, Cryptorchidism, Thin ... |
ORPHA:163979 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Narrow mouth, Cryptorchidism, Abnormal palate morpholog... |
ORPHA:2719 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Macrotia, Bulbous nose, Narrow nose, Micrognathia, Irregular dentition, Smooth phi... |
OMIM:615656 |
| Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Gingival overgrowth, Abnormal intestine morphology, Tracheoesophageal fistula, Hydr... |
ORPHA:1834 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Distal symphalangism of hands, Absent trapezium, Microdontia, Absent trapezoid bone, Pulp calcifi... |
OMIM:606895 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Macrotia, Antever... |
OMIM:300912 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones |
ORPHA:2787 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy... |
OMIM:610921 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Ventriculomegaly, Plagiocephaly |
ORPHA:521390 |
| Hurler Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Anteverted nares, Death in infancy... |
ORPHA:93473 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Cleft lip, Malar flattening, Submucous cleft soft palate, Protruding ear, Hypodontia... |
ORPHA:69085 |
| Vacterl With Hydrocephalus |
|
Abnormality of the outer ear, Microtia, third degree, Retrognathia, Anotia, Micrognathia, Cryptor... |
ORPHA:3412 |
| Phocomelia, Schinzel Type |
|
High, narrow palate, Micrognathia, Calvarial skull defect, Cryptorchidism, Protruding ear, Trache... |
ORPHA:2879 |
| Cockayne Syndrome B |
|
Carious teeth, Dental malocclusion, Progeroid facial appearance, Abnormal auditory evoked potenti... |
OMIM:133540 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Increased CSF lactate, Death in childhood, Sensorineural hearing impairment... |
OMIM:220110 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Cerebellar vermis hypoplasia, Ventriculomegaly, Depressed nasal bridge, Hamartoma o... |
OMIM:616546 |
| Marden-Walker Syndrome |
|
Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Narrow mouth, Sub... |
ORPHA:2461 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ventriculomegaly, Progressive hearing impairment |
OMIM:620166 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Wide nasal bridge, Bifid uvula, Low-set ears, Plagiocephaly, Broad nasal tip, Dermatographic urti... |
OMIM:619480 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Depressed nasal bridge, Recurrent upper respiratory tract infections, Cariou... |
OMIM:253200 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cerebellar atrophy, Cryptorchidism, Death in childhood |
OMIM:615597 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Bulbous nose, Increased CSF lactate, Micrognathia, Trismus |
OMIM:616271 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Calvarial osteosclerosis, Delayed cranial suture clo... |
ORPHA:93325 |
| Kabuki Syndrome |
|
Abnormality of the dentition, Ventriculomegaly, Lip pit, Conductive hearing impairment, Widely sp... |
ORPHA:2322 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, H... |
OMIM:616462 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... |
ORPHA:352665 |
| Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Stomach cancer, Duo... |
ORPHA:733 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of the dentition, Hearing impairment, Abnormal dental enamel morphology, Sensorineura... |
ORPHA:3220 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Dyspnea, Central apnea, Hyperoxemia |
ORPHA:70589 |
| Menke-Hennekam Syndrome 1 |
|
Low-set ears, Everted upper lip vermilion, Hearing impairment, Micrognathia, Cryptorchidism, Abse... |
OMIM:618332 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Underdeveloped tragus, Abnormal antiheli... |
ORPHA:2036 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Respiratory distress, Micrognathia, Malar flattening, Death in childho... |
OMIM:613848 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Sensorineural hearing impairment |
ORPHA:99947 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Progeroid facial appearance, Premature graying of hair, Micrognathia, Reduced subcutaneous adipos... |
ORPHA:280365 |
| Fanconi Anemia, Complementation Group R |
|
Chiari type I malformation, Agenesis of permanent teeth, Anal atresia, Hydrocephalus |
OMIM:617244 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Recurrent aphthous stomatitis, Intestinal obstruction, Purpura, Acrocyanosis, Urticaria |
ORPHA:343 |
| Hartsfield Syndrome |
|
Low-set ears, Hypoplasia of the frontal bone, Cleft upper lip, Median cleft upper lip, Craniosyno... |
OMIM:615465 |
| Mgat2-Cdg |
|
Dental crowding, Prominent antihelix, Abnormal earlobe morphology, Respiratory distress, Low-set,... |
ORPHA:79329 |
| Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Low-set ears, Long philtrum, Small placenta, Depressed nasal tip, Micrognath... |
OMIM:208150 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Anal atresia, Hydrocephalus, Stillbirth |
OMIM:276950 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Low-set ears, Congenital shortened small intestine, Ventriculomegaly, Cleft lip, Annular pancreas... |
OMIM:265380 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia |
ORPHA:2302 |
| Pseudohypoparathyroidism Type 1C |
|
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decre... |
ORPHA:79444 |
| 3Q29 Microdeletion Syndrome |
|
Low-set ears, Abnormality of the dentition, Dental crowding, Macrotia, Prominent nasal bridge, Or... |
ORPHA:65286 |
| Kindler Syndrome |
|
Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Cutaneous photosensitivity, Telang... |
OMIM:173650 |
| Usher Syndrome |
|
Abnormal vestibular function, Carious teeth, Abnormal dental enamel morphology, Sensorineural hea... |
ORPHA:886 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Diamond-Blackfan Anemia 8 |
|
Thick upper lip vermilion, Short nose, Wide nasal bridge |
OMIM:612563 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea |
OMIM:265120 |
| Osteogenesis Imperfecta |
|
Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela... |
ORPHA:666 |
| Pseudohypoparathyroidism Type 1A |
|
Depressed nasal bridge, Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decre... |
ORPHA:79443 |
| Congenital Sialidosis Type 2 |
|
Low-set ears, Hearing impairment, Umbilical hernia, Gingival overgrowth, Protruding tongue, Petec... |
ORPHA:93400 |
| Functioning Gonadotropic Adenoma |
|
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... |
ORPHA:91348 |
| Myhre Syndrome |
|
Low-set ears, Hypoplasia of the maxilla, Cleft lip, Hearing impairment, Prominent nasal bridge, N... |
OMIM:139210 |
| Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Depressed nasal bridge, Cerebellar atrophy, Downturned corners of mouth, Retrognathi... |
OMIM:301030 |
| Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Frontal bossing, Hydrocele testis, Short nose |
OMIM:266810 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Hypopituitari... |
ORPHA:91350 |
| 22Q11.2 Deletion Syndrome |
|
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Hypo... |
ORPHA:567 |
| Central Neurocytoma |
|
Tinnitus, Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
| Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media,... |
ORPHA:3455 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Wide nasal bridge, Coronal craniosynostosis, Cholelithiasis, Low-set ears, Retrognathia, Pancreat... |
ORPHA:83617 |
| Roberts Syndrome |
|
Cleft upper lip, Underdeveloped nasal alae, Absent earlobe, Micrognathia, Malar flattening, Crypt... |
ORPHA:3103 |
| Dravet Syndrome |
|
Cyanotic episode, Limited knee extension, Obsessive-compulsive trait, Impulsivity |
ORPHA:33069 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Brachycephaly, Hypoplasia of the zygomatic bone, Long philtrum |
OMIM:614800 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cyanosis, Hydrocephalus, Macroglossia |
OMIM:261740 |
| 8Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Congenital hip dislocation, Microretrognathia, Broad nasal tip, Branchial cyst... |
ORPHA:508488 |
| Trichothiodystrophy 1, Photosensitive |
|
Retrognathia, Macrotia, Intestinal obstruction, Death in infancy, Triangular mouth, Telangiectasi... |
OMIM:601675 |
| Cranioectodermal Dysplasia 3 |
|
Widely spaced teeth, Micrognathia, Ectodermal dysplasia, Sagittal craniosynostosis, Everted lower... |
OMIM:614099 |
| Thakker-Donnai Syndrome |
|
Downturned corners of mouth, Bulbous nose, Anteverted nares, Narrow mouth, Communicating hydrocep... |
ORPHA:1780 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Microglossia, Lateral ventricle dilatation, Hamartoma of tongue, In... |
OMIM:263520 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Oligodontia, Thin upper lip vermilio... |
OMIM:180500 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:2182 |
| Primary Hyperoxaluria |
|
Abnormality of the dentition, Abnormal dental pulp morphology, Cutis marmorata, Acrocyanosis, Roo... |
ORPHA:416 |
| Jaberi-Elahi Syndrome |
|
Low-set ears, Depressed nasal bridge, Cerebellar vermis atrophy, Triangular mouth, Protruding ear... |
OMIM:617988 |
| C Syndrome |
|
Depressed nasal bridge, Hypoplasia of the ear cartilage, Long philtrum, Low-set, posteriorly rota... |
ORPHA:1308 |
| Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
| Denys-Drash Syndrome |
|
Wide anterior fontanel, Neonatal death |
OMIM:194080 |
| Nicolaides-Baraitser Syndrome |
|
Wide nasal base, Short lingual frenulum, Cryptorchidism, Excessive wrinkled skin, Everted lower l... |
OMIM:601358 |
| Hereditary Angioedema Type 1 |
|
Dermatographic urticaria, Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate m... |
ORPHA:100050 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Abnormality of the ... |
ORPHA:466943 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Pallister-Hall Syndrome |
|
Natal tooth, Atresia of the external auditory canal, Auricular tag, Hypopituitarism, Cryptorchidi... |
ORPHA:672 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Open mouth, Cryptorchidism, Pear-shaped nose, Agenesi... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Open mouth, Cryptorchidism, Pear-shaped nose, Agenesi... |
ORPHA:363958 |
| Desbuquois Dysplasia 1 |
|
Depressed nasal bridge, Microretrognathia, Long philtrum, Narrow mouth, Malar flattening, Smooth ... |
OMIM:251450 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress |
OMIM:613561 |
| Robinow-Sorauf Syndrome |
|
Plagiocephaly, Narrow nose, Malar flattening, Craniosynostosis, Long nose, Pansynostosis |
OMIM:180750 |
| Cartilage-Hair Hypoplasia |
|
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Spinal dysraphism, Low-set, pos... |
ORPHA:175 |
| Tetanus |
|
Respiratory distress, Tachypnea, Trismus |
ORPHA:3299 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Posterior plagiocephaly, Intestinal malrotation, Cryptorchidism, Brachycephaly, Wide mouth, Duode... |
OMIM:617798 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Depressed nasal bridge, Umbilical hernia, Hypopituitarism, Decreased... |
ORPHA:226307 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Sensorineural hearing impairment, Thin upper lip vermilion, Hyperechogenic pancreas, Brachycephal... |
ORPHA:456312 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Ventriculomegaly, Plagiocephaly, Cerebellar atrophy, Widely spaced teeth, Frontal bossing, Microg... |
OMIM:617193 |
| Diamond-Blackfan Anemia |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Cleft lip, Micrognathia, Cleft soft pala... |
ORPHA:124 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Omphalocele, Anencephaly |
ORPHA:63260 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Hydrocephalus |
ORPHA:31 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Erythema, Colonic diverticula, Recurrent upper respiratory tract infections, Persistence of prima... |
OMIM:147060 |
| Pentalogy Of Cantrell |
|
Absent gallbladder, Encephalocele, Orofacial cleft, Hydrocephalus, Anencephaly, Non-midline cleft... |
ORPHA:1335 |
| Laurin-Sandrow Syndrome |
|
Depressed nasal ridge, Downturned corners of mouth, Abnormality of the nose, Underdeveloped nasal... |
ORPHA:2378 |
| Spondyloenchondrodysplasia |
|
Juvenile rheumatoid arthritis, Dental malocclusion, Delayed eruption of teeth, Arthritis |
ORPHA:1855 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Increased CSF glycine concentration, Death in infancy |
OMIM:614299 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Cupped ear, Bulbous nose, Prominent nasal bridge, Aganglionic megacolon, Posteriorly rotated ears... |
OMIM:613870 |
| Pterygium Colli, Isolated |
|
Protruding ear, Short nose |
OMIM:177990 |
| Faciocardiomelic Syndrome |
|
Depressed nasal bridge, Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Anteverte... |
OMIM:612731 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Wide anterior fontanel |
OMIM:613673 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
| Aspartylglucosaminuria |
|
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Vascular skin abnormality, Umbili... |
ORPHA:93 |
| Isolated Exencephaly |
|
Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton mo... |
ORPHA:563612 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Respiratory distress, Cryptorchidism, Sensorineural... |
OMIM:607143 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Absent gallbladder, Hydrocephalus, Anencephaly, Bile du... |
OMIM:612284 |
| Tetraamelia Syndrome 1 |
|
Low-set ears, Choanal atresia, Single naris, Cleft upper lip, Micrognathia, Adrenal gland agenesi... |
OMIM:273395 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Depressed nasal bridge, Ventriculomegaly, Long philtrum, Bulbous nose, Anteverted nares, Microgna... |
ORPHA:508533 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Abnormality of the dentition, Depressed nasal bridge, Hearing impairment, Abnormali... |
ORPHA:536471 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, High palate |
OMIM:271225 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Recurrent upper respiratory tract infections, Gingival overgrowth, Delayed eruption of teeth, Hea... |
ORPHA:508542 |
| Meckel Syndrome |
|
Depressed nasal ridge, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Furro... |
ORPHA:564 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Wide nasal bridge, Downturned corners of mouth, Supernumerary nipple, Widely spaced teeth, Anteve... |
OMIM:616728 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Widely spaced teeth, Bruxism, Apnea, Delayed eruption of primary teeth, Aggressi... |
OMIM:617799 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Choanal atresia, Semilobar holoprosencephaly, Dental crowding, Downturned corners of mouth, Retro... |
OMIM:301044 |
| Primrose Syndrome |
|
Hearing impairment, Genu valgum, Narrow mouth, Hip contracture, Torus palatinus, Tics, High palat... |
OMIM:259050 |
| Anaplastic Thyroid Carcinoma |
|
Dyspnea, Goiter, Respiratory distress, Tracheoesophageal fistula, Nodular goiter |
ORPHA:142 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Dimple chin, Hearing impairment, Narrow mouth, Cryptorchidism... |
ORPHA:138 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea |
ORPHA:50251 |
| Fanconi Anemia, Complementation Group B |
|
Low-set ears, Ventriculomegaly, Death in infancy, Cerebellar hypoplasia, Tracheoesophageal fistul... |
OMIM:300514 |
| Craniopharyngioma |
|
Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism, Vertigo, Abno... |
ORPHA:54595 |
| Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Enterocolitis, Abnormality of the anterior fontanelle, Jaundice, Nasal flari... |
ORPHA:90051 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormality of the dentition, Hearing impairment, Progeroid facial appearance, Large fontanelles,... |
ORPHA:90153 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Chiari malformation, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callo... |
OMIM:305600 |
| Idiopathic Pulmonary Fibrosis |
|
Orthodeoxia, Acrocyanosis |
ORPHA:2032 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hearing impairment, Cryptorchidism, Agenesis of corpus callosum, Tracheoesophageal fistula, Esoph... |
ORPHA:77298 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Shallow acetabular fossae, Eruption failure, Joint subl... |
OMIM:182250 |
| Nipah Virus Disease |
|
Respiratory distress, Vertigo, Recurrent pharyngitis |
ORPHA:99825 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Erythema, Large fontanelles, Arthropathy, Wormian bones, Arthritis, High palate, Flushing |
OMIM:259100 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Ventriculomegaly, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic... |
ORPHA:348 |
| Tetrasomy 9P |
|
Abnormal earlobe morphology, Micrognathia, Absent gallbladder, Cryptorchidism, Glue ear, Jaundice... |
ORPHA:3310 |
| Multiple Sulfatase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Smooth philtrum, Hydr... |
ORPHA:585 |
| Hemangioblastoma |
|
Vertigo, Hydrocephalus, Cerebellar edema, Cerebellar hemangioblastoma |
ORPHA:252054 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Abnormality of the dentition, Depressed nasal bridge, Chiari malformation, Frontal bossing, Bulbo... |
OMIM:271510 |
| Yunis-Varon Syndrome |
|
Low-set ears, Short chin, Hearing impairment, Broad secondary alveolar ridge, Micrognathia, Crypt... |
ORPHA:3472 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Taurodontia, Hyperparathyroidism, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
| 1P36 Deletion Syndrome |
|
Wide nasal bridge, Pointed chin, Ventriculomegaly, Depressed nasal ridge, Annular pancreas, Depre... |
ORPHA:1606 |
| Hydrolethalus Syndrome 1 |
|
Low-set ears, Midline defect of the nose, Micrognathia, Agenesis of corpus callosum, Median cleft... |
OMIM:236680 |
| Viss Syndrome |
|
Low-set ears, Exostosis of the external auditory canal, Recurrent joint dislocation, Micrognathia... |
OMIM:619472 |
| Warburg Micro Syndrome 2 |
|
Macrotia, Prominent nasal bridge, Asymmetry of the ears, Cryptorchidism, Brachycephaly, Short nose |
OMIM:614225 |
| Ruvalcaba Syndrome |
|
Dental crowding, Narrow mouth, Cryptorchidism, Convex nasal ridge, Thin vermilion border, Short nose |
ORPHA:3121 |
| Bardet-Biedl Syndrome 8 |
|
Brachycephaly |
OMIM:615985 |
| Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Choanal atresia, Hearing impairment, C... |
ORPHA:98889 |
| Muscle-Eye-Brain Disease |
|
Holoprosencephaly, Meningocele, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus |
ORPHA:588 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormality of the dentition, Ventriculomegaly, Abnormality of the mid... |
ORPHA:581 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Oral leukoplakia, Pterygium, Microdontia, Esophageal stricture |
OMIM:224230 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Agenesis of corpus callosum, Lateral ventricle dilatation, Delayed er... |
OMIM:300952 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Holoprosencephaly, Craniosynostosis, Brachycephaly, Plagiocephaly |
ORPHA:2163 |
| Simpson-Golabi-Behmel Syndrome |
|
High, narrow palate, Wide nasal bridge, Mandibular prognathia, Abnormal helix morphology, Cleft u... |
ORPHA:373 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Wide nasal bridge, Respiratory distress, Death in childhood, Thick vermilion border, Macroglossia... |
OMIM:617303 |
| Molybdenum Cofactor Deficiency, Type B |
|
Ventriculomegaly, Long philtrum, Neonatal death, Thick vermilion border, Frontal bossing, Short nose |
OMIM:252160 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Death in childhood, Short nose |
OMIM:618961 |
| Nasu-Hakola Disease |
|
Ventriculomegaly, Hydrocephalus |
ORPHA:2770 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:140896 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Depressed nasal ridge, Ectopic anterior... |
ORPHA:95494 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Wormian bones,... |
OMIM:617159 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hearing impairment |
ORPHA:2720 |
| Ciliary Dyskinesia, Primary, 1 |
|
Anosmia, Nasal polyposis, Conductive hearing impairment, Chronic sinusitis, Chronic rhinitis, Abs... |
OMIM:244400 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Wide nasal bridge, Bifid uvula, Abnormal helix morphology, Plagiocephaly, Downturned corners of m... |
ORPHA:453499 |
| Greenberg Dysplasia |
|
Low-set ears, Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Retrognat... |
OMIM:215140 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Extra-axial cerebrospinal fluid accumulation, Hypopnea, Cerebellar atrophy, Respiratory distress,... |
OMIM:618426 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Holoprose... |
OMIM:270400 |
| Mucopolysaccharidosis Type 2 |
|
Wide nasal bridge, Abnormal temper tantrums, Recurrent upper respiratory tract infections, Otoscl... |
ORPHA:580 |
| Griscelli Syndrome |
|
Premature graying of hair, Encephalocele, Hydrocephalus, Jaundice, Pyloric stenosis |
ORPHA:381 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Meckel diverticulum, Anteverted nares, Micrognathia, Malar flatteni... |
OMIM:274000 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hearing impairment |
OMIM:616733 |
| Humeroradial Synostosis |
|
Wide nasal bridge, Brachycephaly, Small earlobe, Microtia |
OMIM:236400 |
| Roberts-Sc Phocomelia Syndrome |
|
Wide nasal bridge, Low-set ears, Hyperplasia of the maxilla, Cleft upper lip, Narrow naris, Under... |
OMIM:268300 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Joint dislocation, Delayed eruption of teeth, Long philtrum, Widely spaced teeth... |
OMIM:143095 |
| Krabbe Disease |
|
Increased CSF protein concentration, Hydrocephalus, Hearing impairment |
OMIM:245200 |
| Camurati-Engelmann Disease |
|
Carious teeth, Hearing impairment, Genu valgum, Reduced subcutaneous adipose tissue, Mandibular p... |
OMIM:131300 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set ears, Chiari malformation, Lateral ventricle dilatation, Hearing impairment, Absent gallb... |
ORPHA:500150 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea |
ORPHA:86812 |
| Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly, Wide nose, Depressed nasal ridge |
ORPHA:3210 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Wide nasal bridge, High palate, Retrognathia, Short nose |
OMIM:618005 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Hydrocephalus, Death in infancy |
OMIM:602361 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Micrognathia, Tented upper lip vermilion, Sensori... |
OMIM:618460 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:267450 |
| Achondrogenesis, Type Ia |
|
Low-set ears, Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Protruding tong... |
OMIM:200600 |
| Alpha-Thalassemia |
|
Malar prominence, Jaundice, Hyperplasia of the maxilla |
ORPHA:846 |
| Ciliary Dyskinesia, Primary, 43 |
|
Chronic rhinitis, Recurrent upper respiratory tract infections, Chronic sinusitis, Noncommunicati... |
OMIM:618699 |
| Mowat-Wilson Syndrome |
|
Wide nasal bridge, Tooth malposition, Abnormal enteric ganglion morphology, Ventriculomegaly, Poi... |
OMIM:235730 |
| Stt3B-Cdg |
|
Respiratory distress, Cerebellar atrophy, Cryptorchidism |
ORPHA:370924 |
| Congenital Disorder Of Deglycosylation 1 |
|
Low-set ears, Pointed chin, Decreased CSF 5-hydroxyindolacetic acid concentration, Decreased CSF ... |
OMIM:615273 |
| Optic Pathway Glioma |
|
Vertigo, Hydrocephalus |
ORPHA:2086 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Increased circulating prola... |
ORPHA:293987 |
| Camurati-Engelmann Disease |
|
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Hearing impairment, Genu v... |
ORPHA:1328 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Bifid uvula, Spinal dysraphism, Submucous cleft hard palate, Sensorineural hearing impairment, In... |
OMIM:617660 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Open mouth, Cryptorchidism, Anterior pituitary hypoplasia, High, narrow pal... |
ORPHA:466791 |
| Acute Interstitial Pneumonia |
|
Dyspnea, Tachypnea, Hypoxemia, Cyanosis |
ORPHA:79126 |
| Wolf-Hirschhorn Syndrome |
|
Wide nasal bridge, Craniofacial asymmetry, Malrotation of small bowel, Ventriculomegaly, Conducti... |
OMIM:194190 |
| Lathosterolosis |
|
Long philtrum, Thick upper lip vermilion, Chiari type II malformation, Anteverted nares, Microgna... |
OMIM:607330 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Ventriculomegaly, Long philtrum, Cranial hyperostosis, Micrognathia, Gingival overgrowth, Hydroce... |
OMIM:259720 |
| Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Hydrocephalus, Cloverleaf skull, Neonatal death |
OMIM:187600 |
| Degcags Syndrome |
|
Low-set ears, Hearing impairment, Premature graying of hair, Micrognathia, Protruding tongue, Cry... |
OMIM:619488 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Low-set ears, Depressed nasal bridge, Hearing impairment, Cryptorchidism, Death in childhood, Sen... |
OMIM:300661 |
| Neu-Laxova Syndrome 1 |
|
Low-set ears, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Neonatal death, Macrotia... |
OMIM:256520 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... |
ORPHA:100924 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Plagiocephaly, Cupped ear, Downturned corners of mouth, Long philtrum, Hearing impairment, Decrea... |
ORPHA:444077 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Jaundice |
OMIM:250940 |
| Restrictive Dermopathy |
|
Low-set ears, Choanal atresia, Microcolon, Natal tooth, Aplasia/Hypoplasia involving the nose, Ca... |
ORPHA:1662 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Low-set ears, Bifid uvula, Retrognathia, Bulbous nose, Prominent nose, Micrognathia, Prominent oc... |
ORPHA:2636 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| L1 Syndrome |
|
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus |
ORPHA:275543 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Low-set ears, Brachycephaly, Plagiocephaly |
OMIM:619910 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Stillbirth |
OMIM:259410 |
| Cranioectodermal Dysplasia 2 |
|
Low-set ears, Micrognathia, Ectodermal dysplasia, Everted lower lip vermilion, High palate, Bile ... |
OMIM:613610 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Low-set ears, Depressed nasal bridge, Delayed cranial suture closure, Depressed nasal tip, Microg... |
OMIM:620005 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Cerebellar hypoplasia, Plagiocephaly, Hypoplasia of the pons |
OMIM:607313 |
| Genitopatellar Syndrome |
|
Wide nasal bridge, Congenital hip dislocation, Anal stenosis, Malrotation of small bowel, Delayed... |
OMIM:606170 |
| Incontinentia Pigmenti |
|
Erythema, Conical tooth, Delayed eruption of teeth, Oligodontia, Hypodontia |
OMIM:308300 |
| Dominant Beta-Thalassemia |
|
Depressed nasal bridge, Abnormality of the dentition, Hyperplasia of the maxilla, Malar prominenc... |
ORPHA:231226 |
| Kabuki Syndrome 1 |
|
Wide nasal bridge, Abnormality of the dentition, Anal stenosis, Low-set ears, Anoperineal fistula... |
OMIM:147920 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Cerebellar atrophy, Sensorineural hearing impairment |
ORPHA:254913 |
| Classical Ehlers-Danlos Syndrome |
|
Hip dislocation, Poor wound healing, Bruising susceptibility, Abnormality of the temporomandibula... |
ORPHA:287 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Hearing impairment, Short nasal septum, Short nose |
OMIM:302950 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia |
ORPHA:178320 |
| Kindler Epidermolysis Bullosa |
|
Erythema, Inflammation of the large intestine, Carious teeth, Periodontitis, Camptodactyly of fin... |
ORPHA:2908 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Carious teeth, Xerostomia, Hearing impairment, Cupped ear, Microdontia, Delayed eruption of prima... |
OMIM:149730 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Tooth malposition, Lateral ventricle dilatation, Recurrent otitis media, Enlarged cerebellum, Ope... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Tooth malposition, Recurrent otitis media, Enlarged cerebellum, Open mouth, Cryptorchidism, Agene... |
ORPHA:2152 |
| Wiedemann-Steiner Syndrome |
|
Wide nasal bridge, Low-set ears, Long philtrum, Decreased response to growth hormone stimulation ... |
ORPHA:319182 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormality of the dentition, Progeroid facial appearance, Micrognathia, Narrow mouth, Convex nas... |
ORPHA:90154 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Hydrocephalus |
OMIM:312190 |
| Hypoplasminogenemia |
|
Periodontitis, Abnormality of the ovary, Gingival overgrowth, Hydrocephalus, Gingivitis, Abnormal... |
ORPHA:722 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Carious teeth, Micrognathia, Narrow mout... |
OMIM:616734 |
| Fanconi Anemia |
|
Hearing impairment, Aplasia/Hypoplasia of the uvula, Micrognathia, Cryptorchidism, Anal atresia, ... |
ORPHA:84 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tachypnea, Dyspnea, Recurrent upper respiratory tract infections |
ORPHA:60032 |
| Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Cerebellar atrophy, Hearing impairment, An... |
OMIM:272200 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Japanese Encephalitis |
|
Increased CSF protein concentration, Abnormal thalamus morphology, Abnormal pattern of respiratio... |
ORPHA:79139 |
| Xq21 Microdeletion Syndrome |
|
Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Sensorineural... |
ORPHA:1435 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Plagiocephaly, Anteverted nares, Open mouth, Agenesis of corpus callosum, Hydro... |
ORPHA:457284 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Depressed nasal bridge, Ventriculomegaly, Thick lower lip vermilion, Bulbous nose, Simple ear, Br... |
OMIM:610442 |
| Mucopolysaccharidosis, Type Vii |
|
Recurrent upper respiratory tract infections, Hearing impairment, Widely spaced teeth, Umbilical ... |
OMIM:253220 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Brachycephaly, Supernumerary nipple |
ORPHA:1173 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachypnea, Hypoxemia |
ORPHA:264675 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Vertigo, Cerebellar atrophy |
ORPHA:37612 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventriculomegaly, Frontal bossing, Hydrocephalus |
OMIM:603387 |
| Sporadic Fetal Brain Disruption Sequence |
|
Plagiocephaly, Prominent occiput |
ORPHA:1665 |
| Lacrimoauriculodentodigital Syndrome |
|
Low-set ears, Carious teeth, Xerostomia, Micrognathia, Sensorineural hearing impairment, Dysphagi... |
ORPHA:2363 |
| Noonan Syndrome With Multiple Lentigines |
|
Wide nasal bridge, Low-set, posteriorly rotated ears, Cryptorchidism, Excessive wrinkled skin, Se... |
ORPHA:500 |
| Menkes Disease |
|
Brachycephaly, Death in childhood |
OMIM:309400 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Ventriculomegaly, Cerebellar atrophy, Respiratory distress, Decreased CSF copper concentration, I... |
OMIM:620306 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Tooth malposition, Hypoplastic anterior commissure, Lateral ventricle dilatation, Recurrent otiti... |
ORPHA:261552 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Low-set ears, Abnormality of the dentition, Depressed nasal bridge, Tented upper lip vermilion, M... |
ORPHA:457395 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorchidism, Agene... |
OMIM:312870 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Low-set ears, Respiratory distress, Smooth philtrum, Hydrocephalus, Jaundice, Glossitis, Stomatitis |
ORPHA:79282 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress |
OMIM:620375 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Thick vermilion border, Macroglossia, Short nose |
ORPHA:505248 |
| Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia |
ORPHA:238459 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hearing impairment, Ankyloglossia, Bilateral sensorineural hearing impairment, Jaundice, High pal... |
OMIM:619475 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cerebellar hypoplasia, Sensorineural hearing impairment, Hydrocephalus, Agenesis of corpus callosum |
OMIM:615249 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Respiratory distress, Myelomeningocele, Posteriorly placed anus, Cyanosis, Cerebell... |
OMIM:306955 |
| Avian Influenza |
|
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Miscarriage |
ORPHA:454836 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Increased CSF protein concentration, Cerebellar atrophy, Short chin, Increased CSF lactate, Apnea... |
OMIM:252010 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Ventriculomegaly, Low-set, posteriorly rotated ears, Prominent nasal bridge, Communicating hydroc... |
ORPHA:457359 |
| Shwachman-Diamond Syndrome |
|
Abnormality of the outer ear, Carious teeth, Delayed eruption of teeth, Hearing impairment, Abnor... |
ORPHA:811 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Plagiocephaly, Broad nasal tip, Supernumerary nipple, Short lingual frenulum, Midline nasal groov... |
ORPHA:1521 |
| Femoral-Facial Syndrome |
|
Low-set ears, Ventriculomegaly, Long philtrum, Underdeveloped nasal alae, Micrognathia, Cryptorch... |
OMIM:134780 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus, Cryptorchidism |
OMIM:601794 |
| Fibrous Dysplasia Of Bone |
|
Abnormal facial skeleton morphology, Hearing impairment, Abnormal mandible morphology, Abnormalit... |
ORPHA:249 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Depressed nasal ridge, Communicating hydrocephalus, Conductive hearing impairment |
ORPHA:1861 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Anal atresia |
OMIM:314390 |
| Floating-Harbor Syndrome |
|
Low-set ears, Carious teeth, Conductive hearing impairment, Downturned corners of mouth, Underdev... |
OMIM:136140 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Depressed nasal bridge, Low-set ears, Stillbirth |
OMIM:151210 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Wide nasal bridge, Recurrent upper respiratory tract infections, Otosclerosis, Conductive hearing... |
ORPHA:217085 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Hunter-Macdonald Syndrome |
|
Joint contracture of the hand, Conductive hearing impairment, Delayed cranial suture closure, Pre... |
OMIM:611962 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Tachypnea, Hypoxemia |
ORPHA:860 |
| Limb Body Wall Complex |
|
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Cleft lip, Myelomeningocele, Encephal... |
ORPHA:2369 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cryptorchidism, Cleft palate |
OMIM:610125 |
| Beta-Thalassemia Major |
|
Depressed nasal bridge, Abnormality of the dentition, Hyperplasia of the maxilla, Malar prominenc... |
ORPHA:231214 |
| Congenital Lobar Emphysema |
|
Respiratory distress |
ORPHA:1928 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Wide nasal bridge, Recurrent upper respiratory tract infections, Otosclerosis, Conductive hearing... |
ORPHA:217093 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Acrocyanosis, Cryptorchidism, Turricephaly |
ORPHA:1867 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Ventriculomegaly, Plagiocephaly, Cerebellar atrophy, Protruding ear, Everted lower lip vermilion,... |
OMIM:615471 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Inflammation of the large intestine, Carious teeth, Periodontitis, Bruising susceptibi... |
ORPHA:79259 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Lhermitte-Duclos Disease |
|
Macroglossia, Enlarged cerebellum, Ovarian neoplasm, Hydrocephalus |
ORPHA:65285 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Conductive hearing impairment, Bruising susceptibility, High-frequency sensorineural hearing impa... |
OMIM:614557 |
| Chops Syndrome |
|
High, narrow palate, Downturned corners of mouth, Long philtrum, Hearing impairment, Anteverted n... |
OMIM:616368 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia |
ORPHA:36238 |
| Neuroocular Syndrome 1 |
|
Low-set ears, Genu recurvatum, Short uvula, Downturned corners of mouth, Retrognathia, Widely spa... |
OMIM:619539 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Wormian bones, Abnormality of the ankle |
ORPHA:970 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum,... |
ORPHA:228308 |
| Basal Cell Nevus Syndrome 2 |
|
Vertigo, Frontal bossing, Hydrocephalus |
OMIM:620343 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Long nose, Communicating hydrocephalus, Wide nose |
ORPHA:2184 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of the maxilla, Duplicated tragus, Conductive hearing impairment, Atresia of the exter... |
OMIM:164210 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Thoracoabdominal Syndrome |
|
Cleft palate, Hydrocephalus, Cleft upper lip, Anencephaly |
OMIM:313850 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Low-set ears, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Short chin, Partial age... |
OMIM:210710 |
| Adams-Oliver Syndrome |
|
Cutis marmorata, Calvarial skull defect, Encephalocele, Hydrocephalus, Esophageal varix |
ORPHA:974 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Ventriculomegaly, CSF lymphocytic pleiocytosis |
ORPHA:292 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Micrognathia, Craniosynostosis |
OMIM:601374 |
| Molybdenum Cofactor Deficiency, Type A |
|
Ventriculomegaly, Long philtrum, Thick vermilion border, Frontal bossing, Short nose |
OMIM:252150 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus |
OMIM:613330 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hearing impairment, Anteriorly placed anus, Colonic atresia, Agenesis of corpus callosum, Colpoce... |
OMIM:309801 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Sensorineural hearing impairment, Hypodontia, ... |
ORPHA:209905 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Open mouth |
ORPHA:98805 |
| Diamond-Blackfan Anemia 1 |
|
Depressed nasal ridge, Retrognathia, Cleft upper lip, Delayed cranial suture closure, Micrognathi... |
OMIM:105650 |
| Alexander Disease |
|
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, High palate, Frontal bossing |
ORPHA:58 |
| Hydrocephalus, Congenital, 4 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
| Faundes-Banka Syndrome |
|
Low-set ears, Plagiocephaly, Cupped ear, Conductive hearing impairment, Underdeveloped nasal alae... |
OMIM:619376 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Goiter |
ORPHA:97285 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Low-set ears, Anteriorly placed anus, Delayed cranial suture closure, Cutaneous photosensitivity,... |
OMIM:618653 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Cerebellar vermis hypoplasia, Plagiocephaly |
OMIM:614563 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Low-set ears, Depressed nasal bridge, Ventriculomegaly, Abnormal nasopharynx morphology, Antevert... |
OMIM:269150 |
| Encephalocraniocutaneous Lipomatosis |
|
Subcutaneous lipoma, Cryptorchidism, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocep... |
OMIM:613001 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Atelosteogenesis Type Ii |
|
Wide nasal base, Low-set ears, Plagiocephaly, Long philtrum, Micrognathia, Bilateral cleft palate... |
ORPHA:56304 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Myelomeningocele, Chiari type II malformation, Ectopic anus, Hydrocephalus, Spina ... |
OMIM:613686 |
| Oculoectodermal Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Supernumerary nipple, Parietal bossing, Pineal cyst, G... |
OMIM:600268 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Abnormal dental morphology, Cranial asymmetry |
OMIM:163200 |
| Chromosome 3Q29 Duplication Syndrome |
|
Wide nasal bridge, Bulbous nose, Short nose |
OMIM:611936 |
| Hardikar Syndrome |
|
Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Vertigo, Mild hearing impairment,... |
OMIM:301068 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia |
ORPHA:90065 |
| H Syndrome |
|
Hearing impairment, Cleft upper lip, Decreased testicular size, Gingival overgrowth, Facial telan... |
ORPHA:168569 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Ventriculomegaly, Cholelithiasis, Poor wound healing, Spontaneous, recurrent epistaxis, Ecchymosi... |
ORPHA:2072 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Talipes valgus, Narrow nose, Submucous cleft hard palate, Ankle clonus, Attention deficit hyperac... |
OMIM:618891 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Esophageal varix, Generalized abnormality of skin |
ORPHA:367 |
| Meningioma |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Focal T2 hypo... |
ORPHA:2495 |
| Menkes Disease |
|
Chondrocalcinosis, Spontaneous hematomas, Micrognathia, Abnormal palate morphology, Wormian bones... |
ORPHA:565 |
| Arachnoiditis |
|
Tinnitus, Hydrocephalus, Hearing impairment |
ORPHA:137817 |
| Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Hydrocephalus, Hearing impairment |
ORPHA:2169 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Ulbright-Hodes Syndrome |
|
Low-set ears, Depressed nasal bridge, Respiratory distress, Micrognathia, Narrow mouth, Cryptorch... |
ORPHA:3404 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Dolichocephaly, Brachycephaly |
ORPHA:2633 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo... |
ORPHA:158668 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia |
OMIM:610913 |
| Duane Retraction Syndrome |
|
Wide nasal bridge, Plagiocephaly, Hearing impairment, Narrow internal auditory canal, Stenosis of... |
ORPHA:233 |
| Dend Syndrome |
|
Downturned corners of mouth, Long philtrum, Anteverted nares, Thickened ears, Short nose |
ORPHA:79134 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Sensorineural hearing impairment, Thin upper lip vermilion, Brachycephaly, Pa... |
OMIM:616263 |
| 6Q Terminal Deletion Syndrome |
|
High, narrow palate, Plagiocephaly, Low-set, posteriorly rotated ears, Micrognathia, Cerebellar h... |
ORPHA:75857 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Gastritis, Tachypnea |
ORPHA:31826 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Cerebellar cyst... |
OMIM:253800 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depressed nasal bridge, Large posterior fontanelle, Delayed cranial suture closure, Attention def... |
ORPHA:90674 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Brachyturricephaly, Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Central apnea... |
ORPHA:522077 |
| Nephronophthisis 18 |
|
Hydrocephalus |
OMIM:615862 |
| Ablepharon-Macrostomia Syndrome |
|
Low-set ears, Microtia, first degree, Microtia, third degree, Hypoplasia of the zygomatic bone, A... |
OMIM:200110 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Nasal congestion, Episodic respiratory distress, Dev... |
ORPHA:141083 |
| Autism, Susceptibility To, X-Linked 2 |
|
Plagiocephaly |
OMIM:300495 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia |
ORPHA:70588 |
| Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Epistaxis, Hip dislocation, Dental crowding, Bruising susceptibility, Elbow ... |
ORPHA:285 |
| Pulmonary Arteriovenous Malformation |
|
Epistaxis, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia |
ORPHA:2038 |
| Opsismodysplasia |
|
Low-set ears, Depressed nasal bridge, Long philtrum, Anteverted nares, Posteriorly rotated ears, ... |
OMIM:258480 |
| Down Syndrome |
|
Conductive hearing impairment, Duodenal stenosis, Malar flattening, Protruding tongue, Aganglioni... |
OMIM:190685 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Wide nasal bridge, Cupped ear, Parietal foramina, Hearing impairment, Micrognathia, Overfolded he... |
OMIM:609945 |
| Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Chiari malformation, Vertigo, Abnormal occipital bone morpholog... |
ORPHA:2356 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea |
ORPHA:159 |
| Necrotizing Enterocolitis |
|
Apnea, Cyanosis |
ORPHA:391673 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Dyspnea |
ORPHA:411703 |
| Pulmonary Capillary Hemangiomatosis |
|
Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis |
ORPHA:199241 |
| Aspartylglucosaminuria |
|
Depressed nasal bridge, Thick lower lip vermilion, Anteverted nares, Thickened calvaria, Brachyce... |
OMIM:208400 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly |
OMIM:618725 |
| Loeys-Dietz Syndrome 1 |
|
Low-set ears, Bifid uvula, Chiari malformation, Retrognathia, Micrognathia, Malar flattening, Pro... |
OMIM:609192 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
| Dihydropyrimidinase Deficiency |
|
Elevated CSF dihydrouracil concentration, Anal atresia, Plagiocephaly, Abnormal pyramidal tract m... |
OMIM:222748 |
| Congenital Tracheomalacia |
|
Recurrent upper respiratory tract infections, Intercostal retractions, Apnea, Cyanosis, Tracheoes... |
ORPHA:95430 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Double Outlet Left Ventricle |
|
Orofacial cleft, Cyanosis |
ORPHA:3427 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Low-set ears, Premature skin wrinkling, Delayed cranial suture closure, Protruding ear, Wormian b... |
OMIM:616603 |
| Biotinidase Deficiency |
|
Myelopathy, Hearing impairment, Respiratory distress, Apnea, Sensorineural hearing impairment, Hy... |
ORPHA:79241 |
| Common Variable Immunodeficiency |
|
Otitis media, Brachycephaly, Gastrointestinal stroma tumor, Anal atresia, Purpura, Chronic otitis... |
ORPHA:1572 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Large fontanelles, Elbow dislocation, Delayed cranial suture closure |
ORPHA:2249 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Brachycephaly, Polycystic ovaries |
ORPHA:371428 |
| Osteootohepatoenteric Syndrome |
|
Hearing impairment, Villous atrophy, Ileoileal intussusception, Hydrocephalus, Prolonged neonatal... |
OMIM:619377 |
| Acrocephalopolydactylous Dysplasia |
|
Low-set ears, Oxycephaly, Hypoplastic colon, Pancreatic fibrosis, Craniosynostosis, Hypoplasia of... |
OMIM:200995 |
| Infantile Krabbe Disease |
|
Respiratory distress, Increased CSF protein concentration, Delayed brainstem auditory evoked resp... |
ORPHA:206436 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal ... |
OMIM:615512 |
| Mirage Syndrome |
|
Decreased testicular size, Petechiae, Cryptorchidism, Hydrocephalus, Esophageal stricture |
OMIM:617053 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Long ear, Micrognathia, Wide mouth, Short nose |
ORPHA:293948 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased CSF lactate |
OMIM:615595 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormal earlobe morphology, Duodenal stenosis, Respiratory distress, Abnorm... |
ORPHA:141127 |
| Omodysplasia 1 |
|
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Umbilical hernia, Micrognathia, Cryptor... |
OMIM:258315 |
| Linear Nevus Sebaceus Syndrome |
|
Ventriculomegaly, Plagiocephaly, Frontal bossing, Prominent occiput, Aplasia/Hypoplasia of the ce... |
ORPHA:2612 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Wide nasal bridge, Low-set ears, Recurrent upper respiratory tract infections, Carious teeth, Hea... |
OMIM:150230 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus |
ORPHA:163596 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Neonatal Lupus Erythematosus |
|
Cutaneous photosensitivity, Hydrocephalus |
ORPHA:398124 |
| Coccidioidomycosis |
|
Increased CSF protein concentration, Hearing impairment, Hypoglycorrhachia, Respiratory distress,... |
ORPHA:228123 |
| Williams Syndrome |
|
Carious teeth, Chiari malformation, Open bite, Micrognathia, Death in early adulthood, Cryptorchi... |
ORPHA:904 |
| Sturge-Weber Syndrome |
|
Chiari malformation, Gingival overgrowth, Hearing abnormality, Conjunctival telangiectasia, Hydro... |
ORPHA:3205 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Knee flexion contracture |
OMIM:617239 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Low-set ears, Choanal atresia, Depressed nasal bridge, Chiari malformation, Conductive hearing im... |
OMIM:201750 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Wide nasal bridge, Low-set ears, Carious teeth, Broad nasal tip, Downturned corners of mouth, Bul... |
OMIM:619522 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Tachypnea, Ecchymosis, Sinusitis |
ORPHA:36234 |
| Knobloch Syndrome |
|
Depressed nasal bridge, Occipital encephalocele, Calvarial skull defect, Hydrocephalus, Pyloric s... |
ORPHA:1571 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Ventriculomegaly, Plagiocephaly, Hypoplasia of t... |
OMIM:620455 |
| Okamoto Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Low-set ears, Exaggerated median tongue... |
ORPHA:2729 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Wormian bones |
ORPHA:2788 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hydrocephalus, Cerebellar cyst |
OMIM:616538 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Sensorineural hearing impairment, Simple ear, Agenesis of corpus callosum, ... |
OMIM:618733 |
| Inhalational Anthrax |
|
Respiratory distress, Abnormal sweat gland morphology, Dyspnea |
ORPHA:247257 |
| Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Smooth tongue, Respiratory distress, Apnea, Trismus, Ectopic thyroid |
ORPHA:3206 |
| Dural Sinus Malformation |
|
Myelopathy, Abnormal cerebellum morphology, Ear pain, Hydrocephalus, Pulsatile tinnitus |
ORPHA:97339 |
| Cardiogenic Shock |
|
Vertigo, Cyanosis, Orthopnea, Dyspnea, Hypoxemia |
ORPHA:97292 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Anal stenosis, Brachycephaly, Esophageal atresia |
OMIM:250250 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, High palate, Hypercapnia, Sensorineural hearing impairment |
OMIM:164310 |
| Cockayne Syndrome |
|
Carious teeth, Dental malocclusion, Progressive sensorineural hearing impairment, High-frequency ... |
ORPHA:191 |
| Opsismodysplasia |
|
Depressed nasal bridge, Frontal bossing, Short nose, Flat occiput |
ORPHA:2746 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Partial agenesis of the corpus callosum, Cyanosis, Death in infancy |
OMIM:617478 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telang... |
OMIM:187300 |
| Dextrocardia |
|
Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Hydrocephalus, Aplasia/Hypopl... |
ORPHA:1666 |
| Aicardi-Goutières Syndrome |
|
Low-set ears, Ventriculomegaly, Plagiocephaly, Cutis marmorata, Chronic CSF lymphocytosis, Increa... |
ORPHA:51 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Cerebellar dysplasia, Micrognathia, Malar flattening, Cerebellar hypoplasia, Ev... |
OMIM:253280 |
| Tuberous Sclerosis Complex |
|
Pituitary adenoma, Generalized abnormality of skin, Respiratory distress, Pheochromocytoma, Subep... |
ORPHA:805 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly, Conductive hearing impairment, Bilateral cryptorchidism, Abnormal palate morpholog... |
ORPHA:3042 |
| Unilateral Polymicrogyria |
|
Epistaxis, Pseudobulbar paralysis, Apnea, Cyanosis, Infantile sensorineural hearing impairment |
ORPHA:268943 |
| Pmm2-Cdg |
|
Cerebellar vermis hypoplasia, Mandibular prognathia, Retrognathia, Long philtrum, Increased circu... |
ORPHA:79318 |
| Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Testicular mic... |
ORPHA:60025 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Plagiocephaly, Cerebellar atrophy, Widely spaced teeth, Micrognathia, Macrotia |
ORPHA:496641 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Perineal fistula, Hydrocephalus, Rectal atresia, Anal atresia, Rectovaginal fistula |
ORPHA:3016 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea |
OMIM:237310 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Ventriculomegaly, Occipital encephalocele, Agenesis of cerebellar vermis, Decreased testicular si... |
OMIM:615287 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Respiratory distress, Intestinal malrotation, Abse... |
ORPHA:210122 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Spontaneous, re... |
OMIM:610655 |
| Medulloblastoma |
|
Vertigo, Hydrocephalus, Adenomatous colonic polyposis, Cerebellar calcifications, Cerebellar cyst... |
ORPHA:616 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Increased CSF lactate, Apnea, Sensorineural hearing impairment, Orofacial c... |
ORPHA:17 |
| Cryptococcosis |
|
Respiratory distress, Abnormality of the outer ear, Dyspnea, Hydrocephalus |
ORPHA:1546 |
| Curry-Jones Syndrome |
|
Anal stenosis, Lip pit, Intestinal pseudo-obstruction, Unicoronal synostosis, Intestinal malrotat... |
OMIM:601707 |
| Complete Atrioventricular Septal Defect |
|
Tachypnea, Intercostal retractions, Cyanosis |
ORPHA:1329 |
| Alternating Hemiplegia Of Childhood |
|
Downturned corners of mouth, Respiratory distress, Apnea, Exaggerated cupid's bow, Flushing |
ORPHA:2131 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Stomatitis |
OMIM:612852 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Exertional dyspnea, Cyanosis |
ORPHA:99106 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal oral mucosa morphology, Respiratory distress, Erosion of oral mucosa, Enamel hypoplasia,... |
ORPHA:79404 |
| Fanconi Anemia, Complementation Group D2 |
|
Low-set ears, Annular pancreas, Bruising susceptibility, Hearing impairment, Cryptorchidism, Agen... |
OMIM:227646 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ventriculomegaly, Apnea, Hydrocephalus |
ORPHA:395 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Large fontanelles, Convex nasal ridge |
OMIM:166210 |
| Occipital Horn Syndrome |
|
High, narrow palate, Synostosis of joints, Bruising susceptibility, Long philtrum, Delayed crania... |
ORPHA:198 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Intestinal malrotation, Cyanosis |
OMIM:616749 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Macroglossia, Hearing impairment |
ORPHA:308552 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hearing impairment, Hydrocephalus, Prematurely aged appearance, Cutaneous photosensitivity, Urtic... |
ORPHA:220295 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Jaundice, Abnormal pineal melatonin secretion |
ORPHA:69665 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal dental pulp morphology, Long philtrum, Abnormality of the sphenoid sinus, Micrognathia, ... |
ORPHA:363700 |
| Myasthenia Gravis |
|
Acrocyanosis, Rheumatoid arthritis, Dysphagia, Hearing impairment |
ORPHA:589 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume, Hypoglycorrhachia, Jaundice, Communicating hydrocephalus, Macrotia |
ORPHA:168577 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Recurrent otitis media, Plagiocephaly, Microdontia |
OMIM:261990 |
| Cleft Lip And Alveolus |
|
Lip pit, Abnormal pattern of respiration, Abnormal nasal septum morphology, Hypodontia, Abnormal ... |
ORPHA:141291 |
| Arthrogryposis, Distal, Type 4 |
|
Hypoplastic helices, Depressed nasal bridge, Cranial asymmetry |
OMIM:609128 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Bruck Syndrome 2 |
|
Pterygium, Wormian bones, Elbow flexion contracture, Knee flexion contracture |
OMIM:609220 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Sotos Syndrome |
|
Abnormality of the dentition, Ankle flexion contracture, Conductive hearing impairment, Hearing i... |
ORPHA:821 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea |
ORPHA:330021 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Bruising susceptibility, Short nose, Ecchymosis |
OMIM:277450 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Brachycephaly |
ORPHA:2988 |
| Loeys-Dietz Syndrome 2 |
|
Bifid uvula, Chiari malformation, Retrognathia, Umbilical hernia, Micrognathia, Malar flattening,... |
OMIM:610168 |
| Poems Syndrome |
|
Acrocyanosis, Increased circulating prolactin concentration, Plethora |
ORPHA:2905 |
| Galloway-Mowat Syndrome 4 |
|
Cerebellar hypoplasia, Protruding ear, Plagiocephaly |
OMIM:617730 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Ileus, Abnormal intestine morphology, Gastritis, Colitis, Urticaria |
ORPHA:37042 |
| Toriello-Lacassie-Droste Syndrome |
|
Hearing impairment, Anteverted nares, Agenesis of corpus callosum, Aganglionic megacolon, Abnorma... |
ORPHA:3339 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Hydrocephalus |
OMIM:219730 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Cryptorchidism, Death in infancy |
ORPHA:95496 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Cryptorchidism, Supernumerary nipple |
ORPHA:2519 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Rhinitis, Purpura, Ecchymosis |
ORPHA:319213 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
| Cardiospondylocarpofacial Syndrome |
|
Wide nasal bridge, Low-set ears, Conductive hearing impairment, Long philtrum, Fusion of middle e... |
OMIM:157800 |
| Farber Disease |
|
Respiratory distress, Recurrent upper respiratory tract infections |
ORPHA:333 |
| Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele |
ORPHA:2119 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:67045 |
| Cerebral Visual Impairment |
|
Hydrocephalus |
ORPHA:447788 |
| Williams-Beuren Syndrome |
|
Premature graying of hair, Recurrent otitis media, Open mouth, Sensorineural hearing impairment, ... |
OMIM:194050 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:157 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Wormian bones |
OMIM:619638 |
| Generalized Arterial Calcification Of Infancy |
|
Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Respiratory distress, Abnorm... |
ORPHA:51608 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis |
ORPHA:99103 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Low-set ears, Smooth philtrum, Hydrocephalus, Macrotia |
OMIM:277400 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hearing impairment, Respiratory distress, Exertional dyspnea, Orthopnea, Macroglossia |
ORPHA:365 |
| Large Congenital Melanocytic Nevus |
|
Hydrocephalus |
ORPHA:626 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Mietens Syndrome |
|
Wide nasal bridge, Short nose, Wide nose |
ORPHA:2557 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Dyspnea, Exertional dyspnea, Cyanosis |
ORPHA:99104 |
| Listeriosis |
|
Increased CSF protein concentration, Hearing impairment, Hypoglycorrhachia, Respiratory distress,... |
ORPHA:533 |
| Geleophysic Dysplasia 1 |
|
Wide nasal bridge, Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Th... |
OMIM:231050 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Vertigo, Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules |
ORPHA:25 |
| Bruck Syndrome |
|
Pterygium, Wormian bones |
ORPHA:2771 |
| Isolated Posterior Meningocele |
|
Chiari malformation, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neu... |
ORPHA:268810 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Joint subluxation, Bruising susceptibility, Wormian bones, Fragile skin, Hip dislocation |
OMIM:617821 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Depressed nasal ridge, Ectopic anterior pituitary gland, Decreased r... |
ORPHA:90695 |
| Whipple Disease |
|
Hydrocephalus |
ORPHA:3452 |
| Yunis-Varon Syndrome |
|
Low-set ears, Micrognathia, Large fontanelles, Sensorineural hearing impairment, High palate, Fla... |
OMIM:216340 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Limited elbow extension, Flat acetabular roof, Genu varum, Delayed oss... |
OMIM:300106 |
| Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Respiratory distress, Cutis marmorata, Vasculitis in the skin, Dyspnea, Colitis, Urti... |
ORPHA:3260 |
| Sacral Defect With Anterior Meningocele |
|
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Erythema, Respiratory distress, Prominent nose, Narrow mouth, Fragile skin, Macrotia |
OMIM:614748 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Depressed nasal bridge, Lateral ventricle dilatation, Hearing impairment, Anteverte... |
OMIM:619534 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema, Tracheoesophageal fistula, Intestinal perforation |
ORPHA:537 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Death in infancy, Lateral ventricle dilatation, Death in childhood |
OMIM:612301 |
| Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Epistaxis, Hydrocephalus, Vascular skin abnormality |
ORPHA:137667 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Increased CSF lactate, Apnea, Sensorineural hearing impairment, Episodic respiratory distress, Dy... |
ORPHA:255210 |
| Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Smooth philtrum, Long philtrum, Short nose |
OMIM:614185 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Ventriculomegaly, Retrognathia, Long philtrum, Respiratory distress, Cerebellar dysplasia, Thin v... |
ORPHA:99646 |
| Holt-Oram Syndrome |
|
Elbow dislocation, Long philtrum, Cleft soft palate, Micrognathia, Limited elbow extension, Cervi... |
OMIM:142900 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Progeroid facial appearance, Facial wrinkling, Cutis marmorata, Decreased adipose t... |
OMIM:606721 |
| Cocaine Intoxication |
|
Respiratory distress, Colitis, Tachypnea, Hyperventilation, Intestinal perforation |
ORPHA:90068 |
| Absence Of The Pulmonary Artery |
|
Dyspnea, Orthopnea, Cyanosis, Hypocapnia |
ORPHA:980 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:256810 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis |
ORPHA:2299 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Steatorrhea |
OMIM:260400 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Townes-Brocks Syndrome 1 |
|
Choanal atresia, Anal stenosis, Stahl ear, Umbilical hernia, Cryptorchidism, Lop ear, Sensorineur... |
OMIM:107480 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Posterior pituitary hypoplasia |
OMIM:613986 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Death in infancy |
OMIM:617156 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Umbilical hernia, Respiratory distress, Intes... |
ORPHA:2255 |
| Neuroblastoma |
|
Respiratory distress |
ORPHA:635 |
| Q Fever |
|
Respiratory distress, Purpura |
ORPHA:781 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Plagiocephaly, Intestinal malrotation, Esophagitis, Perineal fistula, Agenesis of c... |
ORPHA:2538 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Breast hypoplasia... |
OMIM:181450 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Respiratory distress, Petechiae, Ecchymosis, Dyspnea |
ORPHA:340 |
| Dermatomyositis |
|
Erythema, Chondrocalcinosis, Shawl sign, V-sign, Cutaneous photosensitivity, Gastrointestinal str... |
ORPHA:221 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Bilateral vestibular schwannoma, Abnormal cerebellum morphology, Vestibular schwannom... |
ORPHA:637 |
| Oeis Complex |
|
Chiari malformation, Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Myelomenin... |
OMIM:258040 |
| Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Anterior pituitary hypoplasia |
OMIM:620303 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Xerostomia, Oral synechia, Generalized abnormality of skin, Respiratory distress, Oral mucosal bl... |
ORPHA:95455 |
| Gaucher Disease |
|
Gingival bleeding, Ventriculomegaly, Cholelithiasis, Hearing impairment, Death in infancy, Hydroc... |
ORPHA:355 |
| Osteogenesis Imperfecta, Type Xxi |
|
Wormian bones |
OMIM:619131 |
| Kasabach-Merritt Phenomenon |
|
Respiratory distress, Purpura, Hypopnea, Petechiae |
ORPHA:2330 |
| Acromesomelic Dysplasia 1 |
|
Frontal bossing, Short nose |
OMIM:602875 |
| Neurofibromatosis, Type I |
|
Pheochromocytoma, Spina bifida, Hydrocephalus, Parathyroid adenoma, Aqueductal stenosis |
OMIM:162200 |
| Autosomal Dominant Cutis Laxa |
|
Low-set ears, Genu recurvatum, Small bowel diverticula, Delayed cranial suture closure, Premature... |
ORPHA:90348 |
| Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
| Eisenmenger Syndrome |
|
Respiratory distress, Vertigo, Cyanosis, Exertional dyspnea, Hypoxemia |
ORPHA:97214 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sensorineural hearing impairment |
OMIM:616084 |
| Plague |
|
Inflammation of the large intestine, Hearing impairment, Chapped lip, Respiratory distress, Ileit... |
ORPHA:707 |
| Postinfectious Vasculitis |
|
Palpable purpura, Anorexia, Cutis marmorata, Arthritis, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Cyanosis |
ORPHA:99050 |
| Gaucher Disease, Type Iiic |
|
Hydrocephalus |
OMIM:231005 |
| Colchicine Poisoning |
|
Respiratory distress |
ORPHA:31824 |
| Lymphangioleiomyomatosis |
|
Dyspnea, Hydrocephalus |
ORPHA:538 |
| Gitelman Syndrome |
|
Respiratory distress, Vertigo, Tinnitus, Parathyroid adenoma, Neoplasm of the pancreas |
ORPHA:358 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Liver Disease, Severe Congenital |
|
Protein-losing enteropathy, Depressed nasal bridge, Plagiocephaly, Pancreatic hypoplasia, Umbilic... |
OMIM:619991 |
| Alström Syndrome |
|
Testicular fibrosis, Recurrent upper respiratory tract infections, Abnormal vestibular function, ... |
ORPHA:64 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Sensorineural hearing impairment |
OMIM:614863 |
| Neurofibromatosis Type 1 |
|
Hearing impairment, Pheochromocytoma, Hearing abnormality, Cryptorchidism, Gastrointestinal strom... |
ORPHA:636 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Tachypnea, Cyanosis |
ORPHA:3384 |
| Scimitar Syndrome |
|
Respiratory distress |
ORPHA:185 |
| Neutral Lipid Storage Myopathy |
|
Pineal cyst, Sensorineural hearing impairment |
ORPHA:98908 |
| Goodpasture Syndrome |
|
Tachypnea, Exertional dyspnea, Cyanosis |
OMIM:233450 |
| Penile Agenesis |
|
Depressed nasal bridge, Cryptorchidism, Tracheoesophageal fistula, Rectal fistula, Anal atresia, ... |
ORPHA:49 |
| Nocardiosis |
|
Respiratory distress, Dyspnea |
ORPHA:31204 |
| Exstrophy-Epispadias Complex |
|
Anal stenosis, Cryptorchidism, Hydrocephalus, Spina bifida, Anal atresia |
ORPHA:322 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspnea |
ORPHA:99125 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Congenital sensorineural hearing impairment, Plagiocephaly |
ORPHA:45358 |
| Leptospirosis |
|
Respiratory distress, Jaundice |
ORPHA:509 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Depressed nasal bridge, Plagiocephaly, Hearing impairment, Chalazion, Posteriorly rotated ears |
OMIM:613355 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Hydrocephalus |
OMIM:175780 |
| Witkop Syndrome |
|
Microdontia of primary teeth, Agenesis of permanent teeth, Abnormal sweat gland morphology |
OMIM:189500 |
