| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
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 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
| Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... |
OMIM:128980 |
| Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... |
OMIM:221300 |
| Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... |
ORPHA:199306 |
| Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ... |
OMIM:619736 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... |
ORPHA:3232 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the... |
OMIM:108760 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... |
ORPHA:1832 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Agenesis of lateral incisor, Hypodontia, Anodon... |
OMIM:313500 |
| Rhizomelic Syndrome |
|
Micrognathia, Hip dislocation, Wide anterior fontanel |
OMIM:268250 |
| Tooth Agenesis, Selective, 1 |
|
Hypodontia |
OMIM:106600 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... |
ORPHA:2972 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
| Lissencephaly, X-Linked, 2 |
|
High palate, Wide anterior fontanel, Wide nasal bridge, Long philtrum, Micrognathia, Thin upper l... |
OMIM:300215 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu... |
ORPHA:401942 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Chromosome 16Q22 Deletion Syndrome |
|
High palate, Wide anterior fontanel, Wide nasal bridge, Sensorineural hearing impairment, Microgn... |
OMIM:614541 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... |
ORPHA:3216 |
| Holoprosencephaly 9 |
|
Midface retrusion, Prominent antihelix, Holoprosencephaly, Cleft palate, Bilateral cleft lip and ... |
OMIM:610829 |
| Larsen-Like Syndrome |
|
Dental malocclusion, Joint dislocation, Conductive hearing impairment, Wide anterior fontanel, Ab... |
OMIM:608545 |
| Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pteryg... |
OMIM:619339 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,... |
OMIM:269300 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft lip, Midface retrusion, Bilateral cleft palate, Cryp... |
OMIM:616788 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, High palate, Wide anterior fontanel, Abnormality of the elbow, Micrognat... |
ORPHA:3098 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, Dilated third ventricle, High palate, Long philtrum, Prominent nose, Lateral ventr... |
OMIM:619244 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Micrognathia, Hydrocephalus, Dolichocephaly, Frontal bossing, Dandy-Walker... |
ORPHA:1538 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Hearing abnormality, Abnormality of the knee, Depressed nasal ridge, Wide nasal bridge, Prominenc... |
ORPHA:2412 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Upper airway obstruction, Neonatal respiratory distress, Cle... |
OMIM:261800 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
| Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
| Mohr Syndrome |
|
Lobulated tongue, Conductive hearing impairment, Bifid tongue, High palate, Tongue nodules, Micro... |
OMIM:252100 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, High palate, Wide anterior fontanel, Short nose, Posteriorly rotated ears, Antever... |
OMIM:601853 |
| Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
High palate, Long philtrum, Wide anterior fontanel, Death in infancy, Jaundice, Large posterior f... |
OMIM:614872 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Wide nasal bridge, Hydrocephalus, Dolichocephaly, Microretrognathia, Fr... |
OMIM:220220 |
| Auriculocondylar Syndrome 2 |
|
Micrognathia, Cleft palate, Hearing impairment, Glossoptosis, Posteriorly rotated ears, Overfoldi... |
OMIM:614669 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Hearing impairment, Delayed eruption of teeth |
ORPHA:2222 |
| Lowry-Maclean Syndrome |
|
Cleft palate, Convex nasal ridge, Craniosynostosis, Delayed eruption of teeth |
OMIM:600252 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation, Short... |
OMIM:613443 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Respiratory distress, Micr... |
ORPHA:141152 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Long philtrum, Wide nasal bridge, Ventriculomegaly, Micrognathia, A... |
OMIM:618577 |
| Non-Distal Trisomy 10Q |
|
Brachycephaly, Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermi... |
ORPHA:1695 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Prominent nose, Wide anterior fontanel, Wide nasal bridge, High palate, Micrognathia, Short philt... |
OMIM:201170 |
| Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... |
OMIM:113000 |
| Isolated Pierre Robin Syndrome |
|
Micrognathia, Upper airway obstruction, Neonatal respiratory distress, Cleft palate, Glossoptosis |
ORPHA:718 |
| Catifa Syndrome |
|
Long philtrum, Delayed eruption of teeth, Asthma, Microtia, Attention deficit hyperactivity disor... |
OMIM:618761 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cranial sutures, Lo... |
ORPHA:163649 |
| Cleft Velum |
|
Conductive hearing impairment, Aspiration pneumonia, Cleft soft palate, Velopharyngeal insufficie... |
ORPHA:99772 |
| Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Hyperactivity, Micrognathia, Limited... |
ORPHA:166108 |
| Saethre-Chotzen Syndrome |
|
Brachycephaly, Oxycephaly, Parietal foramina, Convex nasal ridge, Narrow palate, Plagiocephaly, S... |
OMIM:101400 |
| Perching Syndrome |
|
Cyanosis, High palate, Respiratory distress, Depressed nasal bridge, Dysphagia |
OMIM:617055 |
| Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... |
OMIM:166750 |
| Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment, Gingival fibromatosis, Gingival overgrowth, Delayed eruption of... |
ORPHA:2027 |
| Gómez-López-Hernández Syndrome |
|
Brachycephaly, Abnormal cerebellum morphology, Turricephaly, Hydrocephalus, Midface retrusion, An... |
ORPHA:1532 |
| Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, Prominent nose, Hyperactivity,... |
OMIM:613684 |
| Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Long philtrum, Deep philtrum, Prominence of the premaxilla, Short nose, Evert... |
OMIM:137550 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Abnormality of dental morpholo... |
ORPHA:2025 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Underdeveloped nasal alae, Small earlobe, Pierre-Robin sequence, Prominence of th... |
ORPHA:364577 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Micrognathia, Depressed nasal bridge, Wide anterior fontanel, Anteverted nares |
OMIM:618272 |
| Cleidocranial Dysplasia 2 |
|
Genu valgum, Wide anterior fontanel, Delayed eruption of primary teeth, Delayed ossification of c... |
OMIM:620099 |
| Elsahy-Waters Syndrome |
|
Brachycephaly, Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula... |
OMIM:211380 |
| Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Wide anterior fontanel, Reduced subcutaneous adipose tissue, Everted lower... |
ORPHA:2963 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Wide anterior fontanel, Long philtrum, Short nose, Congenital hip dislocation, Narro... |
OMIM:219200 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, Supernumerary tooth, ... |
ORPHA:3145 |
| Holoprosencephaly 5 |
|
Macrotia, High palate, Syntelencephaly, Deep philtrum, Lateral ventricle dilatation, Hydrocephalu... |
OMIM:609637 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Low-set, posteriorly rotate... |
ORPHA:2015 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Dentinogenesis imperfecta, Wide anterior fo... |
OMIM:259420 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Micrognathia, Short philtrum, Short nose, Abnormality of the outer ear, Anteverted n... |
ORPHA:217340 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Retrognathia, Convex nasal ridge, Wide anterior fontanel, Micrognathia... |
OMIM:263210 |
| Congenital Myopathy 13 |
|
Brachycephaly, Conductive hearing impairment, High palate, Ventriculomegaly, Micrognathia, Midfac... |
OMIM:255995 |
| Crouzon Syndrome |
|
Brachycephaly, Respiratory insufficiency, Convex nasal ridge, Narrow palate, Chiari malformation,... |
ORPHA:207 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Cyanosis, High palate, Wide anterior fontanel, Wide nasal bridge... |
ORPHA:3309 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru... |
ORPHA:2863 |
| Sweeney-Cox Syndrome |
|
Wide nasal bridge, Micrognathia, Uplifted earlobe, Prominent metopic ridge, Cupped ear, Hearing i... |
OMIM:617746 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Dental malocclusion, Atresia of the external auditory canal, Conductive hear... |
OMIM:601390 |
| Pierpont Syndrome |
|
Brachycephaly, Macrotia, Ventriculomegaly, Chiari malformation, Widely spaced teeth, Abnormal sub... |
ORPHA:487825 |
| Pyle Disease |
|
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... |
OMIM:265900 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft... |
OMIM:157170 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Supernumerary tooth, Diastema, Agenesis of molar, Bicoronal synostosis, Anosmia, Cry... |
OMIM:619718 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, Macrotia, High palate, Ventriculomegaly, Plagiocephaly, Decreased testicular size,... |
OMIM:615433 |
| Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... |
ORPHA:1248 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Wide anterior fontanel, Ectopic anus, Wide mouth, Coronal cranios... |
ORPHA:85199 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Genu valgum, Delayed eruption of primary teeth, Mu... |
OMIM:273050 |
| Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Abnormal dental root morphology, Selective tooth agenesi... |
ORPHA:49042 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Ventriculomegaly, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes ... |
ORPHA:163961 |
| Six2-Related Frontonasal Dysplasia |
|
Wide anterior fontanel, Absent/hypoplastic paranasal sinuses, Premature posterior fontanelle clos... |
ORPHA:488437 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Delayed closure of the anterior fontanelle, Wide anterior fontanel, Gingival hyperkeratosis, Micr... |
OMIM:225410 |
| Adenylosuccinate Lyase Deficiency |
|
Brachycephaly, Long philtrum, Short nose, Thin upper lip vermilion, Flat occiput, Anteverted nare... |
ORPHA:46 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Brachycephaly, Respiratory insufficiency, Convex nasal ridg... |
ORPHA:93262 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Recurrent a... |
ORPHA:397715 |
| Neuralgic Amyotrophy |
|
Cleft palate, Narrow mouth, Acrocyanosis |
ORPHA:2901 |
| Atkin-Flaitz Syndrome |
|
Macrotia, Maxillary lateral incisor microdontia, Everted lower lip vermilion, Broad nasal tip, An... |
ORPHA:1193 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Obtuse angle of mandible, High palate, Wide anterior fontanel, Micrognathia, Malar flattening, Wo... |
ORPHA:85184 |
| Cornelia De Lange Syndrome 5 |
|
Retrognathia, Brachycephaly, High palate, Long philtrum, Ventriculomegaly, Widely spaced teeth, D... |
OMIM:300882 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... |
ORPHA:1991 |
| Zellweger Syndrome |
|
Respiratory insufficiency, High palate, Wide anterior fontanel, Wide nasal bridge, Death in infan... |
ORPHA:912 |
| Williams-Beuren Region Duplication Syndrome |
|
Brachycephaly, High palate, Decreased response to growth hormone stimulation test, Ventriculomega... |
OMIM:609757 |
| Craniolenticulosutural Dysplasia |
|
Delayed closure of the anterior fontanelle, High palate, Wide anterior fontanel, Wide nasal bridg... |
OMIM:607812 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Pierre-Robin sequence, Wide anterior fontanel, Micrognathia, Respiratory distress, Tracheomalacia... |
OMIM:217980 |
| 2q33.1 deletion syndrome |
|
Cleft palate, High palate |
DECIPHER:51 |
| Van Maldergem Syndrome 2 |
|
Hip subluxation, Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognat... |
OMIM:615546 |
| Branchiooculofacial Syndrome |
|
Conductive hearing impairment, Premature graying of hair, Micrognathia, Supernumerary nipple, Cle... |
OMIM:113620 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, Pulmonary arterial hypertension, Dilated third ventricle, Mandibular prognathia, Lo... |
ORPHA:464738 |
| Clark-Baraitser Syndrome |
|
Brachycephaly, High palate, Long philtrum, Wide mouth, Short philtrum, Dolichocephaly, Short nose... |
OMIM:617752 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, Abnormal antihelix morphology, High palate, Micrognathia, Short philtrum, Midface ... |
ORPHA:1387 |
| Otodental Syndrome |
|
Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr... |
ORPHA:2791 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2026 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, High palate, Ventriculomegaly, Dolichocephaly, Midface retrusion, Trigonoc... |
ORPHA:168624 |
| Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar |
OMIM:604625 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachycephaly, Ventriculomegaly, Brachyturricephaly, Pyloric stenosis, Hydrocephalus, Midface ret... |
OMIM:218350 |
| Trichothiodystrophy 2, Photosensitive |
|
Cutaneous photosensitivity, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment,... |
ORPHA:1529 |
| Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Cutis marmorata, Congenital hip dislocation, Thin upper... |
OMIM:619719 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal pinna morpholog... |
OMIM:246560 |
| Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening |
OMIM:613857 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Hearing impairm... |
ORPHA:2325 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Brachycephaly, Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Short philtr... |
OMIM:617296 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Long philtrum, Chiari malformation, Turricephaly, Microtia, Micrognathia, Hydrocep... |
ORPHA:171839 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth |
OMIM:217150 |
| Orofaciodigital Syndrome Type 14 |
|
Lobulated tongue, Dilated third ventricle, Dilated fourth ventricle, Bifid tongue, Bilateral cryp... |
ORPHA:434179 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Tracheobronchomalacia, Cerebellar dysplasia, Plagiocephaly, Sensorineur... |
OMIM:617751 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
High palate, Depressed nasal ridge, Micrognathia, Velopharyngeal insufficiency, Abnormal pinna mo... |
OMIM:608363 |
| Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
| Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Delayed eruption of primary teeth, Wide nasal bridge, Glossoptosis... |
OMIM:616367 |
| Marden-Walker Syndrome |
|
High palate, Wide anterior fontanel, Joint contracture of the hand, Long philtrum, Micrognathia, ... |
OMIM:248700 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Retrognathia, Dilated third ventricle, Macrotia, Sensorineural hearing impairment, Lateral ventri... |
ORPHA:544488 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Wide anterior fontanel, Wide nasal bridge, Thick lower lip vermilion, Ev... |
OMIM:616920 |
| Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachycephaly, Stapes ankylosis, Skull asymmetry, Long philtrum, Wide nasal bridge, Ventriculomeg... |
OMIM:614701 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, Hyperactivity, High palate, Sensorineural hearing impairment, Wide nasal bridge, Lo... |
OMIM:618342 |
| Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Cutis marmorata, Hyperplasia of ... |
OMIM:614753 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Genu valgum, Conductive hearing impairment, Narrow palate, Wide anterior fon... |
OMIM:182212 |
| Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Depressed nasa... |
ORPHA:2804 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Partial absence of cerebellar vermis, Hydrocephalus, Agenesis of cerebe... |
OMIM:220200 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Microtia, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth, Macular telangiectasia, Convex nasal ridge |
ORPHA:69125 |
| Fried Syndrome |
|
Macrotia, High palate, Abnormal cerebellum morphology, Hydrocephalus, Short philtrum, Thickened c... |
ORPHA:85335 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth |
OMIM:183300 |
| Cornelia De Lange Syndrome 2 |
|
Brachycephaly, High palate, Ventriculomegaly, Micrognathia, Cutis marmorata, Thin upper lip vermi... |
OMIM:300590 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Plagiocephaly, Micrognathia, Smooth philtrum, Uplifted earlobe, Agenesis of incisor, Asthma, Doli... |
OMIM:619841 |
| Orofaciodigital Syndrome Type 2 |
|
Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Micrognathia, Taurodontia, Abnorm... |
ORPHA:2751 |
| Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Joint contracture of the hand, Long philtrum, Widely patent sagittal sutu... |
OMIM:228520 |
| Opitz Gbbb Syndrome |
|
Cleft upper lip, High palate, Wide anterior fontanel, Wide nasal bridge, Aspiration, Low-set ears... |
OMIM:300000 |
| Clark-Baraitser syndrome |
|
Genu valgum, Exaggerated median tongue furrow, Prominent median palatal raphe, Thick lower lip ve... |
OMIM:300602 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Wide nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, S... |
OMIM:200990 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Genu valgum, Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Discolored... |
OMIM:601668 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachycephaly, Dental malocclusion, Mandibular prognathia, High palate, Microtia, Spina bifida, M... |
ORPHA:1327 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Hearing abnormality, Prominent nose, Radioulnar synostosis, Abnormal palate morphology, Carious t... |
ORPHA:3270 |
| Crouzon Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Atresia of the external auditory canal, Mandibular prog... |
OMIM:123500 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Cerebellar hypoplasia, Anencephaly, Bifid uvula, Frontal bossing, Abnor... |
OMIM:614175 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Low-set ears, Microtia, Underdevelo... |
ORPHA:79113 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Hydr... |
ORPHA:1516 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Midgut malrotation, Convex nasal ridge, Short nasal bridge, Delayed eru... |
ORPHA:2409 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, At... |
ORPHA:776 |
| Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Wide nasal bridge, Joint contracture of the hand, Hypoplastic fron... |
OMIM:136760 |
| Neonatal Adrenoleukodystrophy |
|
Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bridge, Abnormal palate morp... |
ORPHA:44 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Depressed nasal bridge, Wide anterior fontanel, Macroglossia |
OMIM:275100 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Wide nasal bridge, Microdontia, Additional crus of antihelix, Cupped ear, Thic... |
OMIM:620107 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Brachycephaly, Narrow mouth, High palate |
ORPHA:2528 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... |
OMIM:614886 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate, Low-set ea... |
OMIM:615502 |
| Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Microdontia, Abnormality of dental morphology, Hypo... |
OMIM:272440 |
| Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth, Unicoronal synostosis, Bicoronal synostosis, Metopic syno... |
OMIM:604757 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Sagittal craniosynostosis, Scaphocephaly, Widely spaced teeth, Micrognathia, Agene... |
ORPHA:459061 |
| Osteolysis Syndrome, Recessive |
|
Hypoplasia of the maxilla, Elbow flexion contracture, Broad nasal tip, Knee flexion contracture |
OMIM:259610 |
| Anauxetic Dysplasia 3 |
|
Retrognathia, Hip subluxation, Genu valgum, Wide anterior fontanel, Oligodontia, Depressed nasal ... |
OMIM:618853 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Choanal stenosis, Wide anterior fontanel, Humeroradial synostosis, Long philtrum, Coronal cranios... |
OMIM:207410 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Underdeveloped nasal alae, Dental malocclusion, Macrodontia of permanent maxillary central inciso... |
OMIM:257850 |
| Ramon Syndrome |
|
Conductive hearing impairment, Narrow palate, Sensorineural hearing impairment, Delayed eruption ... |
ORPHA:3019 |
| Growth Hormone Insensitivity Syndrome |
|
Everted lower lip vermilion, Large fontanelles, Hearing impairment, Delayed eruption of teeth |
ORPHA:181393 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, High palate, Low-set ears, Thick lower lip vermilion, Bifid uvula,... |
OMIM:617412 |
| Pierpont Syndrome |
|
Wide nose, Brachycephaly, Chiari malformation, Widely spaced teeth, Prominent median palatal raph... |
OMIM:602342 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth |
ORPHA:63442 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia o... |
OMIM:216300 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Anterior hypopituitarism, Micrognathia, Hydrocephalus, Short nose, Median cleft... |
OMIM:241800 |
| Acromelic Frontonasal Dysplasia |
|
Retrocerebellar cyst, Brachycephaly, Meningocele, Anterior pituitary hypoplasia, Encephalocele, V... |
ORPHA:1827 |
| Apert Syndrome |
|
Respiratory insufficiency, Convex nasal ridge, Conductive hearing impairment, Ventriculomegaly, E... |
ORPHA:87 |
| Craniosynostosis And Dental Anomalies |
|
Brachycephaly, Stapes ankylosis, Convex nasal ridge, Conductive hearing impairment, Chiari malfor... |
OMIM:614188 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Macrotia, Short philtrum, Hypoplasia of the maxilla, Bulbous nose, Cupped ear |
ORPHA:93945 |
| Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Patellar hypoplasia, Abnormal breath sound, Asthma, Micrognathia, Hypoxem... |
ORPHA:2257 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Bul... |
OMIM:618737 |
| Developmental And Epileptic Encephalopathy 49 |
|
Thick upper lip vermilion, Macrotia, Prominent nose, Ventriculomegaly, Hydrocephalus, Short philt... |
OMIM:617281 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Trichodentoosseous Syndrome |
|
Widely spaced teeth, Microdontia, Taurodontia, Dolichocephaly, Frontal bossing |
OMIM:190320 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed closure of the anterior fontanelle, Macrotia, Widely spaced teeth, Delayed eruption of te... |
OMIM:619797 |
| Atkin-Flaitz Syndrome |
|
Genu valgum, Exaggerated median tongue furrow, Prominent median palatal raphe, Thick lower lip ve... |
OMIM:300431 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Underdeveloped nasal alae, Abnormal nasal septum morphology, Long philtrum, Micrognathia, Velopha... |
OMIM:619941 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:171703 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Death in infancy, Micrognathia, Thin upper lip vermilion, Anteverted nares |
OMIM:619135 |
| Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Ventriculomegaly, Death in infancy, Micrognathia, Short nose, Recurrent pneumonia, Abnormal palat... |
ORPHA:1495 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Brachycephaly, Wide nasal bridge, Micrognathia, Hearing impairment, Dolichocephaly, Cryptorchidis... |
OMIM:613792 |
| Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of... |
OMIM:604213 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Decreased CSF glycine concentration, Cerebellar vermis hypopl... |
OMIM:610992 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Cutaneous photosensitivity, Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge... |
ORPHA:2180 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Ventriculomegaly, Short nose, Frontal bossing, Narrow mouth, Low-set ears |
ORPHA:217385 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of t... |
ORPHA:915 |
| Auriculocondylar Syndrome 1 |
|
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... |
OMIM:602483 |
| Acrofrontofacionasal Dysostosis 2 |
|
Wide nose, High palate, Wide anterior fontanel, Low-set ears, Overfolded helix, Posteriorly rotat... |
OMIM:239710 |
| Opitz-Kaveggia Syndrome |
|
Delayed closure of the anterior fontanelle, Micrognathia, Cleft palate, Choanal atresia, Prominen... |
OMIM:305450 |
| 20P13 Microdeletion Syndrome |
|
Hypoplastic helices, Wide anterior fontanel, Thin upper lip vermilion, Smooth philtrum, Abnormal ... |
ORPHA:313781 |
| Dubowitz Syndrome |
|
Delayed cranial suture closure, Respiratory insufficiency, Abnormal antihelix morphology, Delayed... |
ORPHA:235 |
| Cebalid Syndrome |
|
Brachycephaly, High palate, Depressed nasal ridge, Plagiocephaly, Turricephaly, Midface retrusion... |
OMIM:618774 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Large fontanelles, Cleft palate, H... |
ORPHA:1452 |
| Pettigrew Syndrome |
|
Mandibular prognathia, Prominent nose, Ventriculomegaly, Wide mouth, Sensorineural hearing impair... |
OMIM:304340 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Wide anterior fontanel, Sensorineural hearing impairment, Low-set ears, Micrognathia... |
OMIM:214100 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
| Gapo Syndrome |
|
Delayed cranial suture closure, Eruption failure, Delayed closure of the anterior fontanelle, Wid... |
OMIM:230740 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Delayed eruption of teeth... |
OMIM:613849 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverted nares, Low-set ears, Exag... |
OMIM:618506 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition |
ORPHA:2776 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Macrotia, Lateral ventricle dilatation, Cerebellar hypoplasia, Microgna... |
ORPHA:3078 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short philtrum, Hypoplasia of the maxilla, Premature loss of teeth, Thin verm... |
OMIM:156510 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Midface retrusion, Tooth agenesis, Cleft palate, Choanal atresia, Narrow palate, Hydrocephalus, D... |
ORPHA:1555 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Anal atresia |
ORPHA:93950 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal antihelix morphology, Abnormal nostril morphology, Depressed na... |
ORPHA:178303 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Brachycephaly, Cleft upper lip, Ventriculomegaly, Wide nasal bridge, Bifid uvula, Anteverted nare... |
OMIM:300958 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Retrognathia, Camptodactyly of finger, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... |
ORPHA:2521 |
| Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, Prenatal death, High palate, Wide nasal bridge, Micrognathia, Low-set ears, Neonata... |
OMIM:618393 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Sensorineural hearing impairment, Delayed eruption of teeth, Short phi... |
ORPHA:71267 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Genu valgum, Joint dislocation, Conductive hearing impairment, Long philtrum, Wide nasal bridge, ... |
ORPHA:502 |
| 48,Xxyy Syndrome |
|
Broad jaw, Ventriculomegaly, Delayed eruption of teeth, Thick lower lip vermilion, Decreased test... |
ORPHA:10 |
| Raine Syndrome |
|
Brachycephaly, Plagiocephaly, Microdontia, Micrognathia, Midface retrusion, Cleft palate, Gingiva... |
OMIM:259775 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick upper lip vermilion, Brachycephaly, Mandibular prognathia, Wide mouth, Thick lower lip verm... |
OMIM:309545 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Prominent nose, Supernumerary tooth, Prominent nasal bridge, Protruding ea... |
ORPHA:627 |
| 20P12.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Microtia, Hypoplasia of the maxilla, Depressed nasal bridge, Na... |
ORPHA:261295 |
| 2Q32Q33 Microdeletion Syndrome |
|
Brachycephaly, Convex nasal ridge, High palate, Long philtrum, Decreased testicular size, Microgn... |
ORPHA:251019 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Micrognathia, Short philtrum, Downtu... |
ORPHA:52022 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Micrognathia, Short nose, Everted lower lip vermilion,... |
ORPHA:261120 |
| Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Ventricul... |
OMIM:618205 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Cerebellar hypoplasia, Death in infancy, Micrognathia, Respiratory distress, Short n... |
OMIM:615042 |
| Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide nasal bridge, Wide mouth, Macroglossia, ... |
OMIM:618729 |
| Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Long philtrum, Short nose, Hypoplasia of the maxilla, Cleft pal... |
ORPHA:90653 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Brachycephaly, Macrotia, High palate, Ventriculomegaly, Wide nasal bridge, Short nose, Hypoplasia... |
OMIM:218000 |
| Neurofaciodigitorenal Syndrome |
|
Abnormality of the philtrum, Mandibular prognathia, Abnormality of the elbow, Hypoplasia of the p... |
ORPHA:2673 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Gingivitis, Periodontitis, Hydrocephalus, Hearing impairment, Abnormality of the dentition |
ORPHA:1008 |
| Ritscher-Schinzel Syndrome 1 |
|
Brachycephaly, Decreased response to growth hormone stimulation test, Micrognathia, Hydrocephalus... |
OMIM:220210 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Jaundice, Hydrocephalus, Death in infancy |
OMIM:129850 |
| Holoprosencephaly 7 |
|
Wide nasal bridge, Midface retrusion, Lobar holoprosencephaly, Median cleft lip, Holoprosencephal... |
OMIM:610828 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, High palate, Ventriculomegaly, Plagiocephaly, Cleft palate, Agenesis of corpus cal... |
OMIM:618603 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Ventriculomegaly, Chiari malformation, Bifid uvula, Midface retrusion, G... |
OMIM:123790 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Macrotia, High palate, Long philtrum, Wide nasal bridge, Cerebellar hyp... |
OMIM:300749 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Underdeveloped nasal alae, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Att... |
OMIM:618825 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Wide anterior fontanel, Absent nasal bridge, Natal tooth, Microtia, Micrognathia, Anal atresia, L... |
OMIM:617925 |
| Acrocraniofacial Dysostosis |
|
Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Natal tooth, Craniosy... |
OMIM:201050 |
| Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Brachycephaly, Macrotia, High palate, Long philtrum, Cerebellar hypoplasia, Downturned corners of... |
OMIM:608027 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
| Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia, Ectodermal dysplasia, Wide nasal bridge |
OMIM:262020 |
| Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
| Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Ventriculomegaly, Low-set ears, Thick lower lip vermilion, Micrognathia, Midface r... |
OMIM:179613 |
| Smith-Magenis Syndrome |
|
Brachycephaly, Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Ventriculom... |
OMIM:182290 |
| Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips,... |
OMIM:241310 |
| Laron Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Abnormality of the elbow, Delayed e... |
ORPHA:633 |
| Cerebrooculonasal Syndrome |
|
Brachycephaly, Conductive hearing impairment, Ventriculomegaly, Cleft palate, Posteriorly rotated... |
OMIM:605627 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Conductive hearing impairment, Cleft soft palate, Micrognathia, Midface retrusion, Cleft palate, ... |
OMIM:616331 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Macroglossia, Wormian bones, Delayed eruption of teeth |
OMIM:614450 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Abnormal antihelix morphology, Convex nasal ridge, Turricephaly, Microtia, Microgn... |
ORPHA:2145 |
| Perlman Syndrome |
|
Retrognathia, Wide nasal bridge, Broad alveolar ridges, Micrognathia, Dolichocephaly, Abnormal up... |
ORPHA:2849 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Zimmermann-Laband Syndrome |
|
Wide nose, High palate, Sensorineural hearing impairment, Wide mouth, Micrognathia, Hypodontia, B... |
ORPHA:3473 |
| Saul-Wilson Syndrome |
|
Convex nasal ridge, Sensorineural hearing impairment, Wide anterior fontanel, Micrognathia, Promi... |
OMIM:618150 |
| 16P13.2 Microdeletion Syndrome |
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Brachycephaly, Dilated third ventricle, Plagiocephaly, Ventriculomegaly, Asthma, Hydrocephalus, C... |
ORPHA:500055 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Hypoplasia of the maxilla, Protruding ear, Wide nasal bridge |
OMIM:618302 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
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Conical tooth, Underdeveloped nasal alae, Brachycephaly, Encephalocele, Coronal craniosynostosis,... |
ORPHA:228390 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Camptodactyly of finger, High palate, Hypoplasia of the maxilla, Prominent nasal bridge, Protrudi... |
ORPHA:85279 |
| Acrofacial Dysostosis, Palagonia Type |
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Micrognathia, Oligodontia, Supernumerary tooth, Spina bifida occulta, Posteriorly rotated ears, M... |
ORPHA:1787 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
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Abnormality of the ear, Hydrocephalus |
OMIM:600257 |
| Hydrolethalus Syndrome 2 |
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Ventriculomegaly, Micrognathia, Anencephaly, Hydrocephalus, Cleft palate, Agenesis of corpus call... |
OMIM:614120 |
| Steatocystoma Multiplex With Natal Teeth |
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Natal tooth |
OMIM:184510 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Brachycephaly, Deep philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Prominent nasal tip, S... |
OMIM:615834 |
| Restrictive Dermopathy 2 |
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Cyanosis, Convex nasal ridge, Hypoplastic facial bones, Respiratory distress, Microretrognathia, ... |
OMIM:619793 |
| Combined Oxidative Phosphorylation Deficiency 25 |
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Decreased response to growth hormone stimulation test, Long philtrum, Wide nasal bridge, Short no... |
OMIM:616430 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
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Wide anterior fontanel, Apnea, Depressed nasal bridge, Large fontanelles, Anteverted nares |
OMIM:614883 |
| Aicardi Syndrome |
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Cleft upper lip, Dilated third ventricle, Chiari malformation, Lateral ventricle dilatation, Spin... |
OMIM:304050 |
| Temtamy Preaxial Brachydactyly Syndrome |
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Proximal symphalangism of hands, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Mi... |
ORPHA:363417 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
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Cleft palate, Bifid uvula, Hydrocephalus, Death in infancy |
OMIM:258320 |
| Coffin-Siris Syndrome 6 |
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Retrognathia, Conductive hearing impairment, Deep philtrum, Micrognathia, Short philtrum, Depress... |
OMIM:617808 |
| 3Mc Syndrome 2 |
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Cleft upper lip, High palate, Limited elbow movement, Wide nasal bridge, Craniosynostosis, Promin... |
OMIM:265050 |
| Smith-Magenis Syndrome |
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Brachycephaly, Cleft upper lip, Mandibular prognathia, Conductive hearing impairment, Delayed eru... |
ORPHA:819 |
| Even-Plus Syndrome |
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Brachycephaly, High palate, Depressed nasal ridge, Microtia, Hypodontia, Midface retrusion, Anal ... |
OMIM:616854 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
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Brachycephaly, Broad jaw, Thickened calvaria, Craniosynostosis, Hearing impairment |
ORPHA:178377 |
| Pycnodysostosis |
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Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Prominent nose, Carious teeth, ... |
ORPHA:763 |
| Odontochondrodysplasia |
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Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, Respiratory... |
ORPHA:166272 |
| Mpdu1-Cdg |
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Thin vermilion border, Absence of acoustic reflex, Wide anterior fontanel, Prominent frontal sinuses |
ORPHA:79323 |
| Donnai-Barrow Syndrome |
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Sensorineural hearing impairment, Wide anterior fontanel, Low-set ears, Short nose, Intestinal ma... |
OMIM:222448 |
| Seizures, Benign Familial Infantile, 1 |
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Cyanosis |
OMIM:601764 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
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Brachycephaly, Mandibular prognathia, Plagiocephaly, Depressed nasal ridge, Conductive hearing im... |
OMIM:618672 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
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Mandibular prognathia, Short philtrum, Protruding ear, Prominent metopic ridge, Cleft palate |
ORPHA:85317 |
| German Syndrome |
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Brachycephaly, Hearing abnormality, High palate, Wide nasal bridge, Micrognathia, Midface retrusi... |
ORPHA:2077 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
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Cutis marmorata, Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
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Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, V... |
ORPHA:370959 |
| Autosomal Recessive Cutis Laxa Type 2A |
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Delayed cranial suture closure, Wide anterior fontanel, Long philtrum, Prominent nasal bridge, Pr... |
ORPHA:357058 |
| Auriculocondylar Syndrome |
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Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle... |
ORPHA:137888 |
| Monosomy 18P |
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Brachycephaly, Abnormal antihelix morphology, Macrotia, Wide nasal bridge, Hypodontia, Micrognath... |
ORPHA:1598 |
| Nager Syndrome |
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Respiratory insufficiency, Non-midline cleft lip, Wide mouth, Microtia, Abnormal nasal morphology... |
ORPHA:245 |
| Cofs Syndrome |
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Camptodactyly of finger, Cutaneous photosensitivity, Sensorineural hearing impairment, Wide nasal... |
ORPHA:1466 |
| Lissencephaly Due To Tuba1A Mutation |
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Dilated fourth ventricle, Ventriculomegaly, Aganglionic megacolon, Microretrognathia, Partial age... |
ORPHA:171680 |
| Hydrocephalus, Congenital, 1 |
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Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Hypoplasia of the maxilla, Hyperactivity, Mandibular prognathia, Crowded maxillary incisors |
ORPHA:397973 |
| Intellectual Developmental Disorder, X-Linked 91 |
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High palate, Macrodontia, Short nose |
OMIM:300577 |
| Amelogenesis Imperfecta, Type Iiib |
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Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Agnathia-Otocephaly Complex |
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Wide nose, Mandibular aplasia, Conductive hearing impairment, Micrognathia, Respiratory distress,... |
OMIM:202650 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Retrognathia, Skull asymmetry, Sensorineural hearing impairment, Bifid uvula, Hydrocephalus, Cuti... |
OMIM:612938 |
| Edinburgh Malformation Syndrome |
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Respiratory insufficiency, Micrognathia, Hydrocephalus, Short nose, Frontal bossing, Downturned c... |
ORPHA:1895 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Dilated third ventricle, Sensorineural hearing impairment, Lateral ventricle dilatation, Hydrocep... |
OMIM:619575 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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Wide nose, High palate, Recurrent pneumonia, Persistence of primary teeth, Erythema, Craniosynost... |
OMIM:147060 |
| Tricho-Retino-Dento-Digital Syndrome |
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Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate |
OMIM:300676 |
| Orofaciodigital Syndrome Iii |
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Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Low-set ears, Bulbou... |
OMIM:258850 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Deep philtrum, Microdontia, Radioulnar synostosis, Carpal synostosis, Diastema, Bilat... |
OMIM:605282 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
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Brachycephaly, Long philtrum, Wide nasal bridge, Micrognathia, Thin upper lip vermilion, Downturn... |
OMIM:615761 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal external nose morphology, Abnormal third ventricle morphol... |
ORPHA:141091 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
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Conductive hearing impairment, High palate, Sensorineural hearing impairment, Microdontia, Abnorm... |
ORPHA:1307 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Macrotia, Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Short nose, Abnormal palate mo... |
ORPHA:2701 |
| Acrootoocular Syndrome |
|
Dental malocclusion, Conductive hearing impairment, Sensorineural hearing impairment, Delayed eru... |
ORPHA:2980 |
| Aminopterin Syndrome Sine Aminopterin |
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Brachycephaly, High palate, Micrognathia, Oligodontia, Frontal bossing, Cryptorchidism, Umbilical... |
OMIM:600325 |
| Treacher Collins Syndrome 4 |
|
Choanal stenosis, Conductive hearing impairment, Micrognathia, Malar flattening, Respiratory fail... |
OMIM:618939 |
| Temple Syndrome |
|
Wide nose, High palate, Decreased testicular size, Micrognathia, Bifid uvula, Short philtrum, Hyd... |
OMIM:616222 |
| Zaki Syndrome |
|
Wide nose, Dilated fourth ventricle, High palate, Wide mouth, Wide nasal bridge, Micrognathia, Sh... |
OMIM:619648 |
| Cardiomyopathy, Dilated, 1I |
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Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Craniosynostosis 3 |
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Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Right unicoronal syno... |
OMIM:615314 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Achondroplasia |
|
Short nasal bridge, Wide anterior fontanel, Central sleep apnea, Flat acetabular roof, Hypoxemia,... |
ORPHA:15 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Macrotia, Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth phi... |
ORPHA:438178 |
| Fetal Trimethadione Syndrome |
|
Brachycephaly, High palate, Micrognathia, Midface retrusion, Short nose, Depressed nasal bridge, ... |
ORPHA:1913 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Anotia, Microtia |
OMIM:251800 |
| Trisomy 4P |
|
Camptodactyly of finger, Abnormal antihelix morphology, Macrotia, Depressed nasal bridge, Abnorma... |
ORPHA:1738 |
| Coffin-Siris Syndrome 2 |
|
Wide nose, Hyperactivity, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thic... |
OMIM:614607 |
| Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Wide nasal bridge, Delayed eruption of teeth, Wid... |
ORPHA:137834 |
| Arthrogryposis, Distal, Type 1C |
|
Retrognathia, Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Hip c... |
OMIM:619110 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Respiratory insufficiency, Hearing abnormality, Wide anterior fontanel, ... |
ORPHA:2021 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Turricephaly, Wide nasal bridge, Sho... |
OMIM:601224 |
| Dysostosis, Stanescu Type |
|
Convex nasal ridge, Abnormal nasal morphology, Macroglossia, Hypoplasia of the maxilla, Narrow na... |
ORPHA:1798 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Retrognathia, Brachycephaly, Macrotia, High palate, Long philtrum, Wide nasal bridge, Ventriculom... |
OMIM:617452 |
| Immunodeficiency 33 |
|
Conical tooth, Hypodontia, Delayed eruption of teeth |
OMIM:300636 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Esophageal stricture, Sensorineural hearing impairment, Delayed eruption of te... |
OMIM:616029 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Extra-axial cerebrospinal fluid accumulation, High palate, Long philtrum, Wide nasal bridge, Vent... |
OMIM:619383 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
