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Gene: Foxi3 MGI:3511278

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

forkhead box I3

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxi3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Foxi3 (0 diseases)
Human diseases predicted to be associated with Foxi3 (1024 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxi3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Round face, Dental crowding, Posteriorly rotated ears, Micro...	OMIM:614669
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H...	OMIM:614188
Arthrogryposis, Distal, Type 2E	Absent antihelix, Trismus, Micrognathia, Narrow mouth	OMIM:121070
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Meier-Gorlin Syndrome 8	Micrognathia, Microtia, Thick vermilion border, Low-set ears, Narrow mouth	OMIM:617564
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3232
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the...	OMIM:602588
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Trigonocephaly, ...	ORPHA:79113
Hemifacial Microsomia With Radial Defects	Hemifacial hypoplasia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of...	OMIM:141400
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Anteverted ears, Aplasia of the inner ear, Peg-shaped maxillary lateral incisors, M...	OMIM:610706
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly...	OMIM:242700
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Round face, Dental crowding, Posteriorly rotated ears, Micro...	OMIM:602483
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Posteriorly rotated ears, Heari...	OMIM:601088
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ...	OMIM:618761
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Cleft palate, Wide mouth, Micro...	ORPHA:1703
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Zechi-Ceide Syndrome	Mandibular prognathia, Cleft lip, Abnormal earlobe morphology, Cleft palate, Downturned corners o...	ORPHA:217017
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Micrognathia, Narrow mouth, Thin vermilion border, Low-set ears, Death in child...	OMIM:618766
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Hemifacial atrophy, Sho...	OMIM:141300
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Everted ...	ORPHA:261120
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Whistling appearance, Hearing abnormality, Pierr...	ORPHA:1150
Oculoauriculofrontonasal Syndrome	Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conductive hearing impairment, Bro...	ORPHA:398156
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, S...	OMIM:602450
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Branchiootic Syndrome	Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, ...	ORPHA:52429
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Microtia, High palate, Micrognathia	OMIM:248910
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Coarse facial features, Flat occiput, Micrognathia, Downturned corners ...	OMIM:615162
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Flat occiput, Micrognathia, Microtia, Everted lower lip vermilion, Low-...	ORPHA:357175
3-Hydroxyisobutyric Aciduria	Microtia, Micrognathia, Triangular face, Long philtrum	ORPHA:939
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Stapes ankylosis, Intestinal malrotation, Velopharyngeal insufficiency,...	OMIM:614701
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Non-midline cleft lip, Abnormality of the inner ear, Sens...	ORPHA:2549
Wilson-Turner Syndrome	Thin upper lip vermilion, Uplifted earlobe, Malar prominence, Micrognathia, Microtia, Abnormal fa...	ORPHA:3459
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat...	OMIM:246560
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar flattening	ORPHA:93946
Charlie M Syndrome	Micrognathia, Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narro...	ORPHA:1406
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Weaver-Williams Syndrome	Protruding ear, Cleft palate, Narrow mouth	ORPHA:3448
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Micrognathia, Protruding ear, Narrow mouth, Abnormal palate morphology	ORPHA:1495
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Micrognathia, Sensorineural hearing impairment, Supernumerary tooth, Synophrys, Aplasia of the in...	ORPHA:90024
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Microretrognathia, Frontal bossing, Abnormality of the dentiti...	ORPHA:2994
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened helices, Malar flattening, Long phil...	ORPHA:261295
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Low-set, posteriorly rotated ears, Mandibular prognathia, Narrow face, Open bit...	ORPHA:1327
2Q32Q33 Microdeletion Syndrome	Long face, Dental crowding, Facial asymmetry, Micrognathia, Brachycephaly, Cleft palate, Oligodon...	ORPHA:251019
Isotretinoin Syndrome	Micrognathia, Cleft palate, Microtia, Biparietal narrowing, Abnormality of the outer ear	ORPHA:2305
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Frontal bossing, Triangular face, Micrognathia, Cleft lip, Sensorineura...	OMIM:301022
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing ...	OMIM:300946
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Long face, Posteriorly rotated ears, Cleft lip, Cleft palate, Downturned corners of mouth, Plagio...	OMIM:618089
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
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
Chromosome 4Q21 Deletion Syndrome	Frontal bossing, Dolichocephaly, Narrow mouth, Sensorineural hearing impairment, Downturned corne...	OMIM:613509
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Cleft palate, Abnormal antihelix mor...	ORPHA:2145
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Na...	OMIM:239800
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, High palate, Brachycephaly, Narrow mouth	ORPHA:2528
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, H...	OMIM:613717
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment...	OMIM:251800
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Parenti-Mignot Neurodevelopmental Syndrome	Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Cupped ear, Microtia, ...	OMIM:619873
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Non-midline cleft lip, Cupped ear, Cleft palate,...	ORPHA:246
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Round face, Posteriorly rotated ears, Micrognathia, Wide mouth, Oligodontia, Microtia, Long philt...	OMIM:602562
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Downturned corners of mouth, Thin vermilion bord...	OMIM:301025
Arthrogryposis, Distal, Type 1C	Pursed lips, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Retrognat...	OMIM:619110
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit...	OMIM:612290
Frontoocular Syndrome	Posteriorly rotated ears, Micrognathia, Narrow philtrum, High palate, Low-set ears, Narrow mouth,...	OMIM:605321
Sweeney-Cox Syndrome	Midface retrusion, Flat occiput, Uplifted earlobe, Micrognathia, Wide anterior fontanel, Velophar...	OMIM:617746
Nager Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip...	ORPHA:245
Coxoauricular Syndrome	Microtia, Hearing impairment	OMIM:122780
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Microtia, Congenital pyloric atresia	OMIM:612138
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Narrow face, Hearing impairment, Micrognathia, Retrognathia, Narrow palate, Hypo...	OMIM:620250
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen...	OMIM:606164
Renpenning Syndrome	Mandibular prognathia, Narrow face, Macrodontia, High, narrow palate, Sensorineural hearing impai...	ORPHA:3242
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Intellectual Developmental Disorder, Autosomal Dominant 26	Micrognathia, Deep philtrum, Brachycephaly, Wide mouth, Short philtrum, Thick vermilion border, L...	OMIM:615834
Mosaic Trisomy 20	Micrognathia, Cleft lip, Cleft palate, Craniofacial asymmetry, Retrognathia, Hearing impairment	ORPHA:1724
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cleft palate, Micrognathia	ORPHA:2015
6Q16 Microdeletion Syndrome	Abnormal ear morphology, Micrognathia, Microtia, Low-set ears, Abnormal facial shape, Retrognathia	ORPHA:171829
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Micrognathia, High, narrow pa...	ORPHA:1968
Acrofacial Dysostosis Syndrome Of Rodriguez	Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, High palate, Short philtrum, Low-...	OMIM:201170
Intellectual Developmental Disorder, Autosomal Dominant 21	Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Low-set ears, Long p...	OMIM:615502
Whistling Face Syndrome, Recessive Form	Micrognathia, Whistling appearance, Narrow mouth, Trismus, High palate, Long philtrum, Malar flat...	OMIM:277720
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H...	OMIM:113650
Burn-Mckeown Syndrome	Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Protruding ear, Thin vermilio...	OMIM:608572
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal tongue physiology, Anteverted ears, Wide mouth, Thin vermilion border, High palate, Narr...	ORPHA:544254
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia, Cleft palate, Micrognathia	OMIM:243440
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Thin vermilion border, Microtia, Low...	ORPHA:171839
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia	OMIM:612776
Atelis Syndrome 1	Glue ear, Carious teeth, Microtia, High palate, Long philtrum, Long face	OMIM:620184
Congenital Myopathy 16	Micrognathia, High palate, Narrow mouth	OMIM:618524
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Midface retrusion, Micrognathia, Progressive hearing impairment, High ...	OMIM:613849
Orofaciodigital Syndrome Xix	Frontal bossing, Underfolded helix, Cleft soft palate, Accessory oral frenulum, Dolichocephaly, C...	OMIM:620107
17P13.3 Microduplication Syndrome	Frontal bossing, High palate, Low-set ears, Narrow mouth	ORPHA:217385
Isotretinoin-Like Syndrome	Micrognathia, Patent ductus arteriosus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, At...	ORPHA:2306
Ohdo Syndrome	Hearing impairment, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth...	OMIM:249620
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Frontal bossing, Microtia, Long face	OMIM:618158
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Severe B lymphoc...	OMIM:102700
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Protruding ear...	ORPHA:1131
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis	OMIM:184460
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overfolded helix	OMIM:609654
Verloove Vanhorick-Brubakk Syndrome	Micrognathia, Non-midline cleft lip, Cleft palate, Microtia, Atresia of the external auditory can...	ORPHA:3429
Nabais Sa-De Vries Syndrome, Type 2	Frontal bossing, Posteriorly rotated ears, Micrognathia, Protruding ear, Bilateral cleft lip and ...	OMIM:618829
Mosaic Trisomy 16	Abnormal ear morphology, Wide mouth, Anteriorly placed anus, Craniofacial asymmetry, Meckel diver...	ORPHA:1708
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Thyroiditis, ...	ORPHA:83471
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Microtia, Abnormal facial shape, Narrow mouth, Intestinal lymphangiectasia, ...	OMIM:616006
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Xq28 (MECP2) duplication	Narrow mouth, Brachycephaly, Death in childhood, Malar flattening, Macrotia	DECIPHER:45
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Fine hair, Aplasia/Hypoplasia of the middle ear, Atresia of th...	ORPHA:3236
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Carious teeth, Downturned corners of mo...	ORPHA:1110
Simosa Craniofacial Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, High, narrow palate, Narrow mouth, Hearing a...	OMIM:182150
Mandibulofacial Dysostosis, Guion-Almeida Type	Trigonocephaly, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Microtia, Atresia ...	OMIM:610536
Warburg Micro Syndrome 1	Micrognathia, Thin vermilion border, Low-set ears, Narrow mouth, Macrotia	OMIM:600118
Schilbach-Rott Syndrome	Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi...	OMIM:164220
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Fetal Akinesia Deformation Sequence 4	Posteriorly rotated ears, Micrognathia, High palate, Prenatal death, Low-set ears, Neonatal death...	OMIM:618393
Developmental And Epileptic Encephalopathy 70	Low-set ears, Narrow mouth	OMIM:618298
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis	OMIM:185800
Johnson Neuroectodermal Syndrome	Carious teeth, Cleft palate, Protruding ear, Microtia, Everted lower lip vermilion, Atresia of th...	ORPHA:2316
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic...	ORPHA:949
Neuralgic Amyotrophy	Round face, Cleft palate, Narrow mouth	ORPHA:2901
19P13.3 Microduplication Syndrome	Posteriorly rotated ears, Micrognathia, Cleft palate, Microtia, Thick vermilion border, Short phi...	ORPHA:447980
Agnathia-Otocephaly Complex	Micrognathia, Aglossia, Cleft palate, Low-set ears, Narrow mouth, Conductive hearing impairment, ...	OMIM:202650
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Lambotte Syndrome	Retrognathia, Macrotia, Atresia of the external auditory canal, Narrow mouth	OMIM:245552
Craniofacial-Deafness-Hand Syndrome	Narrow face, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow mouth, Flat face	ORPHA:1529
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Thin vermilion border, Narrow mouth	ORPHA:2370
Autism Spectrum Disorder Due To Auts2 Deficiency	Micrognathia, Short philtrum, Low-set ears, Narrow mouth, Abnormal facial shape, Retrognathia	ORPHA:352490
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Carious teeth, Narrow mouth, Wide anterior fontanel, Flat face, High palate, Low...	OMIM:219200
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Cleft upper lip, Micrognathia, Sensorineural hearing impairment, Malro...	OMIM:194190
Hypomandibular Faciocranial Dysostosis	Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachyce...	ORPHA:1790
Trisomy 18P	Abnormal pinna morphology, Micrognathia, High, narrow palate, Pyloric stenosis, Thin vermilion bo...	ORPHA:1715
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Microtia, Micrognathia, Duodenal stenosis	ORPHA:2547
7Q31 Microdeletion Syndrome	Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Patent ductus arteriosus after...	ORPHA:251061
Edinburgh Malformation Syndrome	Frontal bossing, Micrognathia, Downturned corners of mouth, Thin vermilion border, Low-set ears, ...	ORPHA:1895
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, High palate, Short philtrum, Wi...	ORPHA:798
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Conductive hea...	ORPHA:861
Acrocephalopolydactyly	Microtia, Oxycephaly	ORPHA:221054
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Exaggerated cupid's bow, Post...	OMIM:619720
Hernández-Aguirre Negrete Syndrome	Wide mouth, Round face, Deep philtrum, Low-set, posteriorly rotated ears	ORPHA:2139
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea...	OMIM:608257
Sonoda Syndrome	Round face, Narrow mouth	OMIM:270460
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th...	ORPHA:3145
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Anotia, Microtia, Macrotia, ...	OMIM:616462
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Microtia, High palate, Bilateral sen...	ORPHA:40366
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an...	OMIM:601390
Raine Syndrome	Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Neonatal death, ...	OMIM:259775
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Hearing abnormality, Aplasia/Hy...	ORPHA:1555
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Craniosynostosis, Wide mouth, Microtia, Widely spaced teeth, Low-set...	OMIM:619056
Distal Duplication 6P	Frontal bossing, Micrognathia, Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology...	ORPHA:1745
Femoral-Facial Syndrome	Thin upper lip vermilion, Micrognathia, Cleft palate, Orofacial cleft, Microtia, Low-set ears, Lo...	ORPHA:1988
Distal Deletion 9P	Low-set, posteriorly rotated ears, Abnormality of the dentition, High, narrow palate, Aplasia/Hyp...	ORPHA:1642
Saethre-Chotzen Syndrome	Facial asymmetry, Craniosynostosis, Open bite, Prominent crus of helix, External ear malformation...	ORPHA:794
Periventricular Nodular Heterotopia 7	Microretrognathia, Round face, Dental crowding, Micrognathia, Dolichocephaly, Sensorineural heari...	OMIM:617201
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Cleft pa...	OMIM:611209
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Round face, Flat face, Narrow mouth	OMIM:132450
Aredyld Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Craniofacial hyperostosis, Abnormal den...	ORPHA:1133
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micr...	ORPHA:2789
Amyotrophy, Hereditary Neuralgic	Low-set ears, Facial asymmetry, Cleft palate, Narrow mouth	OMIM:162100
Tetraploidy	Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Hypoplasia of the ear cartilage	ORPHA:3305
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Microretrognathia, Hypoplasia of the maxilla, Conductive heari...	ORPHA:1307
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Posteriorly rotated ears, Wide mouth, Delayed eruption of permanent teet...	OMIM:618506
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Round face, Abnormal oral cavity morphology, Narrow mouth	ORPHA:1355
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Even-Plus Syndrome	Brachycephaly, Microtia, High palate, Hypodontia, Midface retrusion, Anal atresia	OMIM:616854
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, ...	ORPHA:1597
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment	OMIM:620192
Treacher Collins Syndrome 4	Micrognathia, Cleft palate, Conductive hearing impairment, Malar flattening, Facial asymmetry	OMIM:618939
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Square face, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick u...	OMIM:309545
Larsen-Like Syndrome	Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, Cleft palate, Recurr...	OMIM:608545
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Thin upper lip vermilion, Micrognathia, Narrow mouth	OMIM:617755
Basilar Impression, Primary	Platybasia, Craniofacial asymmetry	OMIM:109500
Aase-Smith Syndrome	Trismus, Abnormal pinna morphology, Cleft palate	ORPHA:916
Tetrasomy 18P	Low-set, posteriorly rotated ears, Long philtrum, Thin vermilion border, Narrow mouth, Facial asy...	ORPHA:3307
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Uplifted earlobe, Protruding ear, Wide mouth, Prominent antihelix, High palate, Darwin tubercle o...	OMIM:615722
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna...	OMIM:619981
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Frontal bossing, Abnormal pinna morphology, Narrow mouth, Trigonocephaly, Mala...	OMIM:177980
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Protruding ear, Wide mouth, Everted lower lip ve...	OMIM:619595
Autosomal Recessive Centronuclear Myopathy	Protruding ear, High palate, Narrow mouth, Abnormal facial shape, Retrognathia, Bifid uvula, Long...	ORPHA:169186
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Round face, Posteriorly rotated ears, Trigonocephaly, Narrow mouth, Sensorineural hearing impairm...	OMIM:604314
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Dental crowding, Narrow mouth, Brachycephaly, Protruding ear, High palate, Long ...	OMIM:615539
Crisponi/Cold-Induced Sweating Syndrome 1	Large face, Micrognathia, Carious teeth, Narrow mouth, Trismus, High palate, Low-set ears, Long p...	OMIM:272430
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Median cleft lip...	ORPHA:2213
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Scaphocephaly, Wide mouth, Low-...	OMIM:619989
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Short philtrum, Low-set ears, N...	ORPHA:397695
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Craniosynostosis, Narrow mouth,...	ORPHA:83
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Cleft palate, Narrow mouth, Coronal craniosynostosis, Flat face, Hearing impairment	OMIM:614078
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an...	OMIM:615546
Congenital Disorder Of Glycosylation, Type Iy	Wide mouth, Macrotia, Widely spaced teeth, Micrognathia	OMIM:300934
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent otitis media, Microdo...	ORPHA:2728
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Gingival overgrowth, Cleft palate, Protruding ear, Elfin facies, Macrotia	ORPHA:2013
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Microtia, Low-set ears, Narro...	OMIM:613804
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Coarse facial features, Tr...	OMIM:612530
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Micrognathia, Abnormality of the ear, High palate, Narrow mouth, Triangula...	OMIM:601680
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Exaggerated cupid's bow, Micrognathia, Narrow mouth, Prominent ear helix, Wide mouth, Low-set ear...	OMIM:618659
Glass Syndrome	Long face, Frontal bossing, Dental crowding, Posteriorly rotated ears, Conical tooth, Micrognathi...	OMIM:612313
Alazami-Yuan Syndrome	Thin upper lip vermilion, Dental crowding, Narrow mouth, High palate, Long philtrum	OMIM:617126
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Mi...	ORPHA:293939
Multiple Synostoses Syndrome 1	Thin upper lip vermilion, Stapes ankylosis, Narrow face, Asymmetry of the mouth, Progressive cond...	OMIM:186500
Alazami Syndrome	Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth, Low-set ears, Malar flat...	OMIM:615071
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Downturned corn...	OMIM:617752
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Micrognathia, Cupped ear, Brach...	OMIM:156200
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Frontal bossing, Abnormal pinna morphology, Hamartoma of tongue, Esophageal divertic...	OMIM:617925
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Long face, Thin upper lip vermilion, Flat occiput, Retrognathia, Aplasia/Hypoplasia of the extern...	ORPHA:505237
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Cupped ear, Macrotia	ORPHA:93945
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Microtia, Retrognathia	ORPHA:163976
Marden-Walker Syndrome	Micrognathia, High, narrow palate, Narrow mouth, Pyloric stenosis, Wide anterior fontanel, Cleft ...	OMIM:248700
Temtamy Preaxial Brachydactyly Syndrome	Round face, Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Microg...	ORPHA:363417
8Q12 Microduplication Syndrome	Narrow mouth, Sensorineural hearing impairment, Brachycephaly, Everted lower lip vermilion, Long ...	ORPHA:228399
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Broad eyebrow, Protruding ear	OMIM:618302
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Round face, Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Low-set ears, ...	OMIM:617333
Cog7-Cdg	Abnormal facial shape, Retrognathia, Micrognathia, Narrow mouth	ORPHA:79333
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Cleft palate, Microtia, Hearing...	ORPHA:1926
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Narrow face, Round face, Micrognathia, Sensorineural hearing impairment...	ORPHA:391408
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Trisomy 17P	Coarse facial features, Micrognathia, Orofacial cleft, Cleft palate, Wide mouth, Macroglossia, Th...	ORPHA:261290
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Cleft palate, High palate, Short philtrum, Narrow mouth, Recurren...	ORPHA:96184
Dyssegmental Dysplasia, Silverman-Handmaker Type	Posteriorly rotated ears, Micrognathia, Calvarial skull defect, Narrow mouth, Neonatal death, Mal...	OMIM:224410
Faciocardiomelic Dysplasia, Lethal	Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia	OMIM:227270
Myopathy, Centronuclear, 5	Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula	OMIM:615959
Fg Syndrome Type 1	Dental crowding, Abnormal large intestine morphology, Micrognathia, Malrotation of colon, Pyloric...	ORPHA:93932
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Thin upper lip vermilion, Gingival overgrowth, Microtia, High palate, Short phi...	OMIM:616977
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Micrognathia, Narrow mouth, Brachycephaly, Cleft palate, High palate, L...	OMIM:156610
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Abnormality of the philtrum, Non-midline cleft lip, Cleft pala...	ORPHA:1770
17Q24.2 Microdeletion Syndrome	Thin upper lip vermilion, Otosclerosis, Micrognathia, Microtia, Short philtrum, Recurrent otitis ...	ORPHA:529962
46,Xy Sex Reversal 4	Trigonocephaly, Micrognathia, Sensorineural hearing impairment, Cleft palate, Microtia, High pala...	OMIM:154230
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b...	OMIM:613805
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, High, narrow palate, Deep philt...	OMIM:158170
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Ohdo Syndrome, X-Linked	Long face, Coarse facial features, Posteriorly rotated ears, Hearing impairment, Hiatus hernia, M...	OMIM:300895
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Cupped ear, Xerostomia, Microtia, Widely spaced teeth, Enamel hypoplasia, Hearing ...	OMIM:620193
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Chromosome 1P35 Deletion Syndrome	Long face, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Sensorineural hearin...	OMIM:617930
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Coarse facial features, Tented upper lip vermilion, Tented phi...	ORPHA:363659
Congenital Disorder Of Deglycosylation 2	Hamartoma of tongue, Micrognathia, Facial asymmetry, Macroglossia, Microtia, High palate, Cleft e...	OMIM:619775
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi...	OMIM:257850
Hunter-Mcalpine Craniosynostosis Syndrome	Downturned corners of mouth, Craniosynostosis, Narrow mouth	OMIM:601379
Crisponi Syndrome	Large face, Death in infancy, Micrognathia, Narrow mouth, High palate, Long philtrum	ORPHA:1545
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Cleft palate, Thin vermilion border, Overfolded helix, Retrogn...	ORPHA:2631
17P11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Abnormal dental morphology, Micrognathia, Open bite, Wide mout...	ORPHA:1713
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Micrognathia, Sensorineural hearing impairment, Downturned corners of mouth, Oligodontia, Narrow ...	OMIM:616817
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Hearing abnormality, Narrow mouth, Malar flattening, Abnormal palat...	ORPHA:2412
Tarp Syndrome	Meckel diverticulum, Posteriorly rotated ears, Micrognathia, Cleft palate, Prominent antihelix, G...	OMIM:311900
Autism, Susceptibility To, X-Linked 6	Short philtrum, Narrow mouth	OMIM:300872
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory ...	OMIM:613309
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death	OMIM:619817
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, P...	OMIM:613603
Al-Raqad Syndrome	Thin upper lip vermilion, Flat face, Low-set ears, Narrow mouth	OMIM:616459
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Branchial cyst, Sensorineural hearing impairment, Protruding ear	ORPHA:435938
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, Everte...	OMIM:619736
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Abnormal pinna morphology, Orofacial cleft, Wide mouth, Long philtrum, ...	OMIM:614583
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Microtia, Abnormality of frontal s...	ORPHA:436003
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Distal 17P13.1 Microdeletion Syndrome	Flat occiput, Protruding ear, Hypoplasia of the zygomatic bone, High palate, Increased overbite, ...	ORPHA:319171
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Micrognathia, Brachycephaly, Wide mouth, Low-set ears, Macrotia, Triang...	OMIM:615419
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia	ORPHA:93950
Weiss-Kruszka Syndrome	Exaggerated cupid's bow, Hearing impairment, Cupped ear, Protruding ear, Microtia, Low-set ears, ...	OMIM:618619
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Frontal bossing, Mixed hearing impairment, Thick lower lip vermilion, Low-set ears, Narrow mouth,...	OMIM:608624
Lambert Syndrome	Malar flattening, Branchial anomaly	ORPHA:1296
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Abnormality of the ear, Cleft palate, Micrognathia	OMIM:183700
Arthrogryposis, Distal, Type 1A	Trismus, Sensorineural hearing impairment, Low-set ears, Narrow mouth, Retrognathia	OMIM:108120
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Posteriorly rotated ears, Facial asymmetry, Dolichocephaly, Conductive h...	ORPHA:2215
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, High palate, Atresia of the external auditory canal, Narrow mouth, Conductive heari...	OMIM:602471
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Micrognathia, Brachycephaly, High palate, Low-set ears, Narrow mouth, Macrotia, Smoo...	ORPHA:562528
Opitz-Kaveggia Syndrome	Frontal bossing, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Microgn...	OMIM:305450
Bardet-Biedl Syndrome 7	Malar flattening, Narrow mouth	OMIM:615984
Coffin-Siris Syndrome 6	Frontal bossing, Coarse facial features, Posteriorly rotated ears, Micrognathia, High, narrow pal...	OMIM:617808
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Fibrochondrogenesis 1	Frontal bossing, Abnormal pinna morphology, Narrow mouth, Wide anterior fontanel, Cleft palate, S...	OMIM:228520
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Dentinogenesis imperfecta, Hearing impairment	OMIM:166220
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Lateral Meningocele Syndrome	Posteriorly rotated ears, Micrognathia, Abnormality of the middle ear ossicles, Short neck, Paten...	OMIM:130720
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow mouth, Mandibular aplasia, Microglossia, Narrow interna...	ORPHA:990
Distal Monosomy 7Q36	Large face, Micrognathia, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal calvaria morp...	ORPHA:1636
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Frontal bossing, Round face, Deep philtrum, Microtia, Low-set ears, Death in ch...	OMIM:613320
Proximal 16P11.2 Microduplication Syndrome	Thin upper lip vermilion, Frontal bossing, Microtia, Flat face, Smooth philtrum	ORPHA:370079
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Narrow face, Gingival overgrowth, Everted l...	OMIM:614753
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Cleft palate, High palate, Low-set ears	OMIM:618388
Meier-Gorlin Syndrome 2	Abnormal pinna morphology, Micrognathia, Dolichocephaly, Microtia, Narrow mouth, Smooth philtrum	OMIM:613800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Narrow face, Flat occiput, Dental crowding, Micrognathia, High palate, Short philtrum, Microdonti...	ORPHA:251028
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of t...	ORPHA:2554
6Q25 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Sensorineural hearing...	ORPHA:251056
Acromicric Dysplasia	Round face, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Long philtrum	OMIM:102370
Nemaline Myopathy 2	Narrow mouth, Cleft palate, High palate, Low-set ears, Long philtrum	OMIM:256030
Mesomelia-Synostoses Syndrome	Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral f...	ORPHA:2496
Toriello-Carey Syndrome	Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Wide anterior fontanel, Cleft pal...	ORPHA:3338
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Synophrys, Thick eyebrow, Protruding ear	OMIM:618737
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Coarse facial features, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdon...	OMIM:619356
Triploidy	Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Non-midline cleft lip, C...	ORPHA:3376
Distal Triplication 15Q	Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Cupped ear, Microtia, High pala...	ORPHA:314588
Harrod Syndrome	Narrow face, Dental malocclusion, Protruding ear, High palate, Narrow mouth, Long face	ORPHA:2115
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Posteriorly rotated ears, Narrow mouth, Brachycephaly, Cleft palate, Mi...	OMIM:601353
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Downturned corners of mouth, Thin vermilion border, Short phil...	ORPHA:2983
Frontonasal Dysplasia 1	Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Anterior basal encephalocel...	OMIM:136760
Recon Progeroid Syndrome	Attached earlobe, Prominence of the premaxilla, Round face, Dental crowding, Delayed eruption of ...	OMIM:620370
Fibrochondrogenesis	Round face, Hearing abnormality, Wide anterior fontanel, Cleft palate, Plagiocephaly, Low-set ear...	ORPHA:2021
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Narrow philtrum, Thick lower lip vermilion, Wide mouth, Microtia, Long philtrum, Thick upper lip ...	ORPHA:163654
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Tented upper lip vermilion, Dental crowding, Posteriorly rotated ears, Cleft upp...	OMIM:612582
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Frontal bossing, High palate, Hypoplasia of the ear cartilage	ORPHA:1035
Buratti-Harel Syndrome	Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi...	OMIM:619314
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Cleft palate, High palate, Low-set ears, Malar flattening, Open mouth	OMIM:620021
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Micrognathia, Narrow mouth	ORPHA:1046
Distal Arthrogryposis Type 1	Narrow mouth	ORPHA:1146
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ...	ORPHA:166100
Parietal Foramina With Cleidocranial Dysplasia	Parietal foramina, Microtia	OMIM:168550
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Micrognathia, High palate, Low-set ears, Narrow mouth, Abnormal facial ...	OMIM:270450
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Posteriorly rotated ears, Abnormality of the ou...	OMIM:617360
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Long face, Thin upper lip vermilion, Round face, Macrodontia, Micrognathia, Protruding ear, High ...	OMIM:618443
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Brachycephaly, High palate, Widely spaced teeth, Low-set ears, Narrow...	OMIM:300260
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermilion, Low-set ears, N...	OMIM:608013
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Sensorineural hearing impairment, Pierre-Robin sequence, Cleft palate, Malar flattening, Midface ...	OMIM:184840
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Dolichocephaly, Brachycephaly, Macroglossia, High palate, Low-set ears,...	ORPHA:357001
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Narrow mouth	OMIM:620007
Distal Duplication 5Q	Craniosynostosis, Micrognathia, Carious teeth, Narrow mouth, Thin vermilion border, Low-set ears,...	ORPHA:96097
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, ...	OMIM:618371
Monosomy 9P	Trigonocephaly, Abnormality of the dentition, Micrognathia, Brachycephaly, Cleft palate, Abnormal...	ORPHA:261112
Stevenson-Carey Syndrome	Posteriorly rotated ears, Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Low-...	OMIM:611961
Otofaciocervical Syndrome 1	Mixed hearing impairment, Long neck, Hypoplasia of the cochlea, Cupped ear, Conductive hearing im...	OMIM:166780
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Conductive hearing impair...	ORPHA:870
Stickler Syndrome, Type Ii	Micrognathia, High, narrow palate, Sensorineural hearing impairment, Pierre-Robin sequence, Cleft...	OMIM:604841
Rapp-Hodgkin Syndrome	Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth...	OMIM:129400
8Q21.11 Microdeletion Syndrome	Round face, Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Downturned corne...	ORPHA:284160
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Abnormal dental morphology, Deep philtrum, Aplasia/Hypoplasia of the earlobes, Abnormal antitragu...	ORPHA:2878
Tonne-Kalscheuer Syndrome	Narrow face, Micrognathia, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spac...	OMIM:300978
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No...	ORPHA:199302
15Q24 Microdeletion Syndrome	Smooth philtrum, Long face, Hearing impairment, Abnormality of the dentition, Facial asymmetry, T...	ORPHA:94065
Kagami-Ogata Syndrome	Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Microtia, Long philtrum, Retrognathia	OMIM:608149
Coxoauricular Syndrome	Microtia, Atresia of the external auditory canal, Hearing impairment	ORPHA:1508
Schwartz-Jampel Syndrome, Type 1	Pursed lips, Micrognathia, Deep philtrum, High palate, Low-set ears, Narrow mouth, Malar flatteni...	OMIM:255800
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearing impai...	OMIM:300373
Luo-Schoch-Yamamoto Syndrome	Abnormal pinna morphology, Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion ...	OMIM:619460
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph...	OMIM:154500
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Frontal bossing, Tented upper lip vermilion, Craniosynostosis, Microtia, Thick vermilion border, ...	OMIM:616723
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Wide mouth, Abnormality of mouth shape, Underdeveloped tragus	ORPHA:83619
Distal Deletion 12Q	Frontal bossing, Coarse facial features, Median cleft lip, Micrognathia, High, narrow palate, Sup...	ORPHA:96149
Faciocardiorenal Syndrome	Cleft palate, Protruding ear, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum	ORPHA:1973
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Osteogenesis Imperfecta, Type I	Otosclerosis, Dentinogenesis imperfecta, Hearing impairment	OMIM:166200
Faciodigitogenital Syndrome, Autosomal Recessive	Posteriorly rotated ears, Trismus, Deep philtrum, Dental malocclusion, Brachycephaly, Narrow pala...	OMIM:227330
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Micrognathia, Cleft palate, Protruding ear, High palate, Low-set ears, Narrow mouth, Retrognathia	OMIM:301091
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Coarse facial features, Abnormal pinna morphology, Thick lower lip ver...	OMIM:614607
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Microtia, Long philtrum, Conductive hearing impairment, Malar flattening, Stenosis of the externa...	OMIM:171480
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Patchy alopecia, Protruding ear	ORPHA:85279
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Absent frontal sinu...	OMIM:301040
Fetal Valproate Spectrum Disorder	Downturned corners of mouth, Long philtrum, Thin vermilion border, Narrow mouth	ORPHA:1906
Freeman-Sheldon Syndrome	Long philtrum, Abnormality of the dentition, Hearing impairment, Narrow mouth	ORPHA:2053
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ...	ORPHA:83463
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Frontal bossing, Posteriorly rotated ears, Micrognathia, Microtia, Low-set ears	OMIM:618336
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Abnormalit...	OMIM:608156
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Tracheoesophageal fistula, Gingival overgrowth, Microtia, Abnormal intestine morpho...	ORPHA:1834
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Round face, Coarse facial features, Thick lower lip vermilion, Wide mouth, Microtia, Long philtru...	OMIM:611717
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Orofacial cleft, Microtia, Narrow mouth, Anal atresia	ORPHA:3301
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Micrognathia, Sensorineural hearing impairment, Submucous cleft har...	OMIM:618971
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed an...	ORPHA:314679
Saethre-Chotzen Syndrome	Facial asymmetry, Prominent crus of helix, Hypoplasia of the maxilla, Parietal foramina, Cleft of...	OMIM:101400
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Cleft palate, Low-set ears, Narrow mouth, Neonatal death	OMIM:251230
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym...	OMIM:300400
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Microtia, Retrognathia	OMIM:212112
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Sensorineural hearing impairment, Prominent occiput, Microtia, High palate, Hypoplasia of the zyg...	OMIM:618500
Desmosterolosis	Low-set, posteriorly rotated ears, Frontal bossing, Intestinal malrotation, Micrognathia, Submuco...	ORPHA:35107
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Coarse facial features, Wide mouth, Everted lowe...	ORPHA:2429
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Par...	ORPHA:85199
Vitamin K Antagonist Embryofetopathy	Macroglossia, Microtia, Hearing impairment	ORPHA:1914
Meier-Gorlin Syndrome 7	Anal stenosis, Sagittal craniosynostosis, Craniosynostosis, Wide anterior fontanel, Sensorineural...	OMIM:617063
21Q22.11Q22.12 Microdeletion Syndrome	Thin upper lip vermilion, Round face, Coarse facial features, Dental crowding, Thick lower lip ve...	ORPHA:261323
Toluene Embryopathy	Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal...	ORPHA:1920
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Extra concha fold, Micrognathia, Hypoplasia of ...	OMIM:209885
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Coarse facial features, Gingival overgrowth, Pr...	ORPHA:137834
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Posteriorly rotated ears, Cleft lip, Cleft palate, Short philtrum, Ev...	OMIM:616898
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Frontal bossing, Craniosynostosis, Micrognathia, Small face, Brachycephaly, Cl...	OMIM:245600
Dyssegmental Dysplasia, Silverman-Handmaker Type	Posteriorly rotated ears, Miscarriage, Micrognathia, Cleft palate, Low-set ears, Narrow mouth, Fl...	ORPHA:1865
Developmental And Epileptic Encephalopathy 80	Death in infancy, Coarse facial features, Tented upper lip vermilion, Posteriorly rotated ears, A...	OMIM:618580
Otopalatodigital Syndrome, Type I	Frontal bossing, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Prominent occipu...	OMIM:311300
Genitopalatocardiac Syndrome	Low-set ears, Micrognathia, Cleft palate, Cleft upper lip	OMIM:231060
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Micrognathia, Microglossia, Cleft palate, Microtia, Thick anterior alv...	ORPHA:2839
Hallermann-Streiff Syndrome	Natal tooth, Frontal bossing, Selective tooth agenesis, Micrognathia, Dolichocephaly, High, narro...	OMIM:234100
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Midface retrusion, Flat occiput, Posteriorly rotated ears, Cloverleaf skull, Cranios...	OMIM:123790
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Abnormal pinna morphology, Perianal abscess, Wide mouth, Abnormal facia...	OMIM:614684
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Hearing abnormality, Cupped ear, Anteriorly placed anus, Microtia, Anal atresia	ORPHA:1352
Arthrogryposis, Distal, Type 2B3	Triangular face, Narrow mouth	OMIM:618436
Acromicric Dysplasia	Round face, Long philtrum, Thick lower lip vermilion, Narrow mouth	ORPHA:969
Robinow Syndrome, Autosomal Dominant 2	Thickened calvaria, Thin upper lip vermilion, Mixed hearing impairment, Frontal bossing, Dental c...	OMIM:616331
8Q22.1 Microdeletion Syndrome	Abnormal pinna morphology, Underfolded helix, Highly arched eyebrow, Sparse eyelashes, Hypoplasia...	ORPHA:178303
Bohring-Opitz Syndrome	Bilateral cleft palate, Posteriorly rotated ears, Intestinal malrotation, Cleft upper lip, Microg...	OMIM:605039
Trisomy 1Q	Microretrognathia, Frontal bossing, Cleft palate, Low-set ears, Narrow mouth, Abnormality of the ...	ORPHA:261344
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Baller-Gerold Syndrome	Frontal bossing, Narrow face, Malabsorption, Micrognathia, Brachycephaly, Cleft palate, Anteriorl...	ORPHA:1225
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Micrognathia, Narrow palate, Abnormal calvaria morphology, Biparietal narrowing, Narrow mouth, Fa...	ORPHA:1323
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Micrognathia, Sensorineural hearing impairment, Narrow mouth, Bird-like facies	OMIM:615381
Oral Submucous Fibrosis	Trismus, Abnormal oral cavity morphology, Cheilitis, Narrow mouth	ORPHA:357154
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Large fleshy ears, High palate, Prominent superior crus of antihelix,...	ORPHA:280633
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Abnormal pinna morphology, Wide mouth, Macroglossia, High palate, Short philtrum	ORPHA:280384
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ...	OMIM:618381
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Narrow face, Dental crowding, Asymmetry of the ears, Facial asymmetry, Thi...	ORPHA:3063
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Round face, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, Everted lowe...	OMIM:616789
Warsaw Breakage Syndrome	Hypoplasia of the cochlea, Cupped ear, Hearing impairment	OMIM:613398
Aarskog-Scott Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Short neck, External ear malformati...	ORPHA:915
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia	OMIM:620137
Meier-Gorlin Syndrome 6	Microretrognathia, Frontal bossing, Posteriorly rotated ears, Cleft palate, Microtia, Thick vermi...	OMIM:616835
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Coarse facial...	ORPHA:420561
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Round face, Brachycephaly, Downturned corners of mouth, Macroglossia, Wide...	ORPHA:369891
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat...	OMIM:610883
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A...	ORPHA:2753
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Midface retrusion,...	OMIM:300990
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ...	ORPHA:989
Humeroradial Synostosis	Small earlobe, Microtia, Brachycephaly	OMIM:236400
Mosaic Variegated Aneuploidy Syndrome 2	Long face, Frontal bossing, Craniosynostosis, Micrognathia, Dolichocephaly, Narrow mouth, Duodena...	OMIM:614114
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Lip pit, Brachycephaly, Large earlobe, Hypodontia, Hypopl...	ORPHA:1236
Say Syndrome	Macrotia, Cleft palate, Micrognathia	OMIM:181180
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c...	OMIM:617241
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Sensorineural hearing impairment, Rectal prolapse, Gingival overgrowth...	OMIM:235510
Au-Kline Syndrome	Sagittal craniosynostosis, Craniosynostosis, Sensorineural hearing impairment, Dental malocclusio...	OMIM:616580
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Low-s...	OMIM:613823
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia, Everted lower lip vermilion	OMIM:275630
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Microretrognathia, Hearing impairmen...	ORPHA:2953
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Thin upper lip vermilion, Oligodontia, Hypodontia, Narrow mouth, Microdontia, Long philtrum	OMIM:618092
Mycophenolate Mofetil Embryopathy	Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Anotia, Microtia, Atresia of the extern...	ORPHA:268249
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Bilateral sensorin...	ORPHA:436174
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	High, narrow palate, Thick lower lip vermilion, Wide mouth, Macrotia, Midface retrusion	OMIM:617268
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Deep philtrum, Sensorineural hearing impairment, Wide mouth, Long philtrum, Facial asymmetry	ORPHA:1825
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dental crowding, Hearing impa...	OMIM:300998
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Cleft Velum	Recurrent otitis media, Conductive hearing impairment, Hypoplasia of the maxilla	ORPHA:99772
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Highly arched eyebrow, Hy...	ORPHA:228396
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Carious teeth...	OMIM:616734
Malan Overgrowth Syndrome	Frontal bossing, Narrow face, Oval face, Scaphocephaly, Plagiocephaly, High palate, Narrow mouth,...	ORPHA:420179
Hennekam-Beemer Syndrome	Micrognathia, Thick lower lip vermilion, Microtia, High palate, Conductive hearing impairment, Tr...	ORPHA:2135
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Midface retrusion, Tented upper lip vermilion, Posteriorly rotated ears...	OMIM:613458
Zimmermann-Laband Syndrome	Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Gingival fibromatosis, Cleft...	ORPHA:3473
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Micrognathia, Low-set ears, Protruding ear	ORPHA:776
Teebi-Shaltout Syndrome	Turricephaly, High, narrow palate, Scaphocephaly, Cleft palate, Wide mouth, Oligodontia, Low-set ...	OMIM:272950
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Microretrognathia, Aganglionic megacolon, Esophageal atresia, ...	ORPHA:59315
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Brachycephaly, Low-set ears, Narrow mouth, Macrotia	OMIM:219150
Otosclerosis 10	Otosclerosis	OMIM:615589
Meier-Gorlin Syndrome 3	Microretrognathia, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Microtia, T...	OMIM:613803
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Thick lower lip vermilion, Protruding ear, Downturne...	OMIM:618950
Arthrogryposis, Distal, Type 2B2	Triangular face, Narrow mouth	OMIM:618435
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Coarse facial features, Small earlobe, Severe periodontitis, Protruding to...	ORPHA:99843
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Posteriorly rotated ears, Abnormality of the dentition, Microtia, Low-set ...	OMIM:614813
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Dental crowding, Abnormal auditory evoked potentials, Hearing...	OMIM:193700
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:615108
Meier-Gorlin Syndrome 1	Incomplete partition of the cochlea type II, Death in infancy, Frontal bossing, Micrognathia, Hyp...	OMIM:224690
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Micrognathia, Orofacial cleft, Wide mouth, Widely-spaced maxillary central incisors, High palate,...	ORPHA:502434
17Q23.1Q23.2 Microdeletion Syndrome	Frontal bossing, Protruding ear, Widely spaced teeth, Narrow mouth, Chronic otitis media, Malar f...	ORPHA:261279
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Sensorineural hearing impairment, Orofacial cleft, Wid...	OMIM:243310
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Frontal bossing, Flat occiput, Posteriorly rotated ears, Micrognathia,...	ORPHA:2780
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th...	ORPHA:3253
Cleidocranial Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Frontal bossing, Sinusitis, Short face, Abnorma...	ORPHA:1452
Crouzon Syndrome	Conductive hearing impairment, Hypoplasia of the maxilla, Narrow internal auditory canal, Hearing...	ORPHA:207
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears	ORPHA:250977
Coffin-Siris Syndrome 3	Coarse facial features, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent tee...	OMIM:614608
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Narrow mouth, Broad face, Low-set ears, Overfolded helix	OMIM:613735
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Malar flattening, Microtia	ORPHA:1788
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Sensorineural hearing impairment, Sparse facial hair, Sparse axillary ...	OMIM:608154
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Aplasia/Hypoplasia of the external ear	ORPHA:168486
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, Cupped ear, Low-set ears	OMIM:167730
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Narrow face, Malar prominence, Wide mouth, Large earlobe, Hypoplasia of th...	ORPHA:2715
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Hypoplasia of the maxilla, Malar flattening	ORPHA:93262
Neurodevelopmental Disorder With Spasticity And Poor Growth	Tented upper lip vermilion, Flat occiput, High, narrow palate, Large earlobe, Microtia, Low-set e...	OMIM:618076
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Tympanosclerosis, Nail dystrophy, Enamel hypoplasia, Alopecia universalis	OMIM:240300
Richieri Costa-Da Silva Syndrome	Abnormality of the dentition, Flat face, Low-set ears, Narrow mouth	ORPHA:3101
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Narrow face, Abnormal pinna morphology, Intestinal malrotation, Microgn...	OMIM:244450
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c...	ORPHA:1435
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Malar flat...	OMIM:620157
Aymé-Gripp Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Asymmetric crying face, Craniosynostosis, Nar...	ORPHA:1272
Chromosome 5Q12 Deletion Syndrome	Frontal bossing, Coarse facial features, Posteriorly rotated ears, Micrognathia, Wide mouth, Macr...	OMIM:615668
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Hypoplasia of the maxilla, S...	ORPHA:2588
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Otopalatodigital Syndrome Type 2	Abnormal pinna morphology, Hearing impairment, Micrognathia, Pierre-Robin sequence, Hypoplastic f...	ORPHA:90652
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Craniosyn...	ORPHA:2136
Monosomy 18P	Micrognathia, Carious teeth, Brachycephaly, Cleft palate, Protruding ear, Downturned corners of m...	ORPHA:1598
Trisomy 12P	Turricephaly, Micrognathia, Cleft palate, Downturned corners of mouth, Abnormal antihelix morphol...	ORPHA:1699
Intellectual Developmental Disorder, Autosomal Dominant 29	Long face, Thin upper lip vermilion, Frontal bossing, Dental crowding, Hearing impairment, Brachy...	OMIM:616078
Van Den Ende-Gupta Syndrome	Dental crowding, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of the maxi...	OMIM:600920
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Protruding ear, Hypoplasia of the zygomatic bone, Low-set ears, Smooth phi...	ORPHA:1778
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Frontal bossing, Micrognathia, Wide mouth, Short philtrum, Low-set ears	ORPHA:163966
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:615109
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Coarse facial features, Posteriorly rotated ears, Sagittal craniosynost...	OMIM:618027
Marshall Syndrome	Thickened calvaria, Frontal bossing, Abnormality of the dentition, Micrognathia, Hypoplasia of th...	ORPHA:560
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Duodenal atresia, Micr...	OMIM:301043
2P15P16.1 Microdeletion Syndrome	Narrow mouth, Brachycephaly, Protruding ear, Everted lower lip vermilion, High palate, Low-set ea...	ORPHA:261349
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Protruding tongue, Micrognathia, Sensorineural hearing impairment, Thick vermil...	OMIM:608779
X-Linked Intellectual Disability, Pai Type	Protruding ear, Narrow mouth	ORPHA:85322
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Frontal bossing, Posteriorly rotated ears, Underdeveloped antitragus, Ante...	OMIM:181270
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Brachycephaly, Wide mouth, Posterior plagiocephaly, Microtia, Duodenal at...	OMIM:617798
Verheij Syndrome	Branchial cyst, Retrognathia, Short neck	OMIM:615583
Trisomy 8P	Posteriorly rotated ears, Short neck, Aplasia/Hypoplasia of the tragus, Low posterior hairline, C...	ORPHA:264450
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Coarse facial features, Dolichocephaly, High palate, Narrow mouth, Malar flattening, Macrotia, Fl...	ORPHA:2463
Coffin-Siris Syndrome 11	Frontal bossing, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corners of m...	OMIM:618779
Galloway-Mowat Syndrome	Micrognathia, Hiatus hernia, Abnormality of the dentition, Hypoplasia of the ear cartilage, Macrotia	ORPHA:2065
Radio-Tartaglia Syndrome	Long face, Thin upper lip vermilion, Frontal bossing, Coarse facial features, Dental crowding, Mi...	OMIM:619312
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Narrow face, Long face, Macrodontia, Micrognathi...	OMIM:309500
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Round face, Micrognathia, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth	OMIM:615065
White-Sutton Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Sensorineural hearing impairment, Brachycepha...	ORPHA:468678
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Microglossia, Narrow mouth	ORPHA:1972
Cousin Syndrome	Frontal bossing, Posteriorly rotated ears, Micrognathia, Microglossia, Alveolar ridge overgrowth,...	OMIM:260660
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Hypoplastic frontal sinuses, Cl...	OMIM:300712
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anotia, Microtia, Low-...	OMIM:614083
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Facial asymmetry, Micrognathia, Microtia, Submucous cleft soft palate, Hearing...	ORPHA:2282
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Long face, Frontal bossing, Exaggerated cupid's bow, Posteriorly rotated e...	OMIM:619512
Faundes-Banka Syndrome	Thin upper lip vermilion, Frontal bossing, Micrognathia, Cupped ear, Cleft palate, Plagiocephaly,...	OMIM:619376
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Round face, Frontal bossing, Micrognathia, Downturned co...	OMIM:620029
Benign Samaritan Congenital Myopathy	Dolichocephaly, Narrow mouth	ORPHA:324581
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Abnormal anti...	ORPHA:2036
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Round face, Coarse facial features, Abnormal dental morphology, Underd...	ORPHA:369950
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Sensorineural hearing impairment	ORPHA:90653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Frontal bossing, Microtia, Low-set ears, Death in childhood, Retrognathia	OMIM:614643
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, ...	OMIM:612289
Van Esch-O'Driscoll Syndrome	Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Downturned corners of mouth, Wide ...	OMIM:301030
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Frontal bossing, Dental crowding, Micrognathia, High, narrow palate, Pierre-Robin sequence, Downt...	ORPHA:96182
Osteopetrosis With Renal Tubular Acidosis	Thickened calvaria, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Thi...	ORPHA:2785
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m...	OMIM:618106
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Patent ductus arteriosus, Low anterior hairline, Coarse hair, Conducti...	ORPHA:2095
Gm1 Gangliosidosis	Mandibular prognathia, Frontal bossing, Coarse facial features, Narrow mouth, Gingival overgrowth...	ORPHA:354
Bartsocas-Papas Syndrome	Median cleft lip, Micrognathia, Cleft palate, Narrow mouth	ORPHA:1234
Marbach-Rustad Progeroid Syndrome	Midface retrusion, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia,...	OMIM:619322
Lambert Syndrome	Wide mouth, Malar flattening	OMIM:245550
Lessel-Kubisch Syndrome	Narrow mouth	OMIM:618681
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Wide mouth, Short philtrum, Low-set ears, Retrognathia	ORPHA:1194
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Long face, Thin upper lip vermilion, Posteriorly rotated ears, Hearing impairment, Micrognathia, ...	OMIM:309590
Galloway-Mowat Syndrome 3	Frontal bossing, Hiatus hernia, Micrognathia, High palate, Low-set ears, Narrow mouth, Midface re...	OMIM:617729
Autosomal Spastic Paraplegia Type 18	Abnormal pinna morphology, Wide mouth, Macroglossia, High palate, Short philtrum	ORPHA:209951
Baller-Gerold Syndrome	Micrognathia, Brachycephaly, Anteriorly placed anus, High palate, Conductive hearing impairment, ...	OMIM:218600
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Round face, Coarse facial features, Abnormality of the dentition, Wide mou...	OMIM:618505
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft upper lip, Cleft palate, Conductive hearing impairment, Facial asymmetry	OMIM:601076
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
16P12.1P12.3 Triplication Syndrome	Coarse facial features, High, narrow palate, Wide mouth, Large earlobe, Thin vermilion border, Lo...	ORPHA:485405
Pallister-Hall Syndrome	Natal tooth, Posteriorly rotated ears, Cleft upper lip, Cleft palate, Anteriorly placed anus, Mic...	OMIM:146510
Hajdu-Cheney Syndrome	Coarse facial features, Intestinal malrotation, Hearing impairment, Abnormality of the dentition,...	ORPHA:955
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Frontal bossing, Exaggerated cupid's bow, Posteriorly rotated ears, Den...	OMIM:619293
Keipert Syndrome	Hypoplasia of the maxilla, Sensorineural hearing impairment	ORPHA:2662
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Macrotia, Low anterior hairline	OMIM:218000
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Trisomy 18	Low-set, posteriorly rotated ears, Microretrognathia, Narrow face, Dolichocephaly, Esophageal atr...	ORPHA:3380
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otit...	OMIM:616268
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Branchial fistula, Facial asymmetry, High, narrow palate, Sensorineural...	ORPHA:261330
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Low-set ears, Stomati...	OMIM:277380
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Micrognathia, Narrow mouth	OMIM:618810
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Coarse facial features, Abnormal pinna morphology, Thick lower lip vermili...	OMIM:300354
Xk Aprosencephaly Syndrome	Anal atresia, Narrow mouth	ORPHA:3469
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Supernumerary nipple, Hypoplasia of the maxilla, Absent eyelashes, Patent ductu...	OMIM:106260
Ssr4-Cdg	Abnormality of upper lip vermillion, Wide mouth, Widely spaced teeth, Abnormal facial shape, Macr...	ORPHA:370927
Alazami Syndrome	Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth, Low-set ears, Malar flat...	ORPHA:319671
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Dental crowding, Micrognathia, Hypoplasia of teeth, High palate, Narrow...	OMIM:608612
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Micrognathia, Sensorineural hearing impairment, Thick lower lip ver...	ORPHA:85321
Vacterl With Hydrocephalus	Microtia, third degree, Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Anotia, Retr...	ORPHA:3412
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Narrow mouth, Plagiocephaly, Macroglossia, High palate, Low-set ears, Long philtrum...	OMIM:613457
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth, Overfolded helix, Brachycephaly	OMIM:616083
Ring Chromosome 12 Syndrome	High, narrow palate, Abnormal facial shape, Microtia, Low-set ears	ORPHA:1439
Desbuquois Dysplasia 1	Microretrognathia, Round face, Narrow mouth, Long philtrum, Malar flattening, Midface retrusion, ...	OMIM:251450
Cog1-Cdg	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Micrognathia, Pierre-Robin sequence,...	ORPHA:263508
Noonan Syndrome 5	Mandibular prognathia, Wide mouth, Thick vermilion border, Low-set ears, Dolichocephaly, Thickene...	OMIM:611553
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Low-set ears, Nar...	ORPHA:77301
Kilquist Syndrome	Mandibular prognathia, Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teet...	OMIM:619080
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly...	OMIM:158350
16Q24.3 Microdeletion Syndrome	Long face, Frontal bossing, Triangular face, Micrognathia, Protruding ear, Wide mouth, Thick verm...	ORPHA:261250
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cleft lip, Cleft pala...	OMIM:139210
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Microtia, Atresia of the external a...	ORPHA:920
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath...	OMIM:603554
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Macrodontia, Posteriorly rotated ears, Protruding tongue, Diastema, Sensor...	OMIM:212066
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the maxilla, Widow's peak, Hypopl...	ORPHA:391474
2Q23.1 Microduplication Syndrome	Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, Wide mouth, Abnormality ...	ORPHA:313947
Combined Oxidative Phosphorylation Deficiency 31	Wide mouth, Midface retrusion, Micrognathia	OMIM:617228
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Seckel Syndrome 7	Microtia	OMIM:614851
Hereditary Acrokeratotic Poikiloderma	Turricephaly, Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, ...	ORPHA:2907
Oculocerebrofacial Syndrome, Kaufman Type	Narrow face, Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Wide mouth, Abnormal...	ORPHA:2707
Hypoglossia-Hypodactylia	Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Hydrolethalus	Low-set, posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingi...	ORPHA:2189
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear, Cleft palate, High palat...	ORPHA:52055
Nasopalpebral Lipoma-Coloboma Syndrome	Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Abnormal eyelash morphology,...	ORPHA:2399
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Abnormality of the philtrum, Cleft upper lip,...	ORPHA:280
Carpenter Syndrome 1	Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth,...	OMIM:201000
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, High palate, Otitis media, ...	OMIM:618050
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Low-set, posteriorly rotated ears, Microretrognathia, Abnormality of the dentiti...	ORPHA:1786
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Midface retrusion, Craniosynostosis, Micrognathia, Cleft palate, Bifid uvula, Flat face, Low-set ...	OMIM:130070
Diamond-Blackfan Anemia 21	Micrognathia, Protruding ear, Low-set ears, Narrow mouth	OMIM:620072
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Narrow face, Micrognathia, Non-midli...	ORPHA:1915
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Round face, Thick lower lip vermilion, Submucous cleft hard palate, Wide m...	OMIM:619103
Kagami-Ogata Syndrome	Pursed lips, Frontal bossing, Micrognathia, Microtia, Broad philtrum	ORPHA:254519
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Abnormal hair whorl, Low-set ears, Hearing impairment	OMIM:614261
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Low-set e...	ORPHA:2409
Hajdu-Cheney Syndrome	Coarse facial features, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Narrow mout...	OMIM:102500
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif...	ORPHA:2521
Trisomy 8Q	Low-set, posteriorly rotated ears, Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial c...	ORPHA:1752
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Lo...	OMIM:236670
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Long face, Thin upper lip vermilion, Narrow face, Abnormal pinna morphology, Anteverted ears, Dee...	OMIM:617641
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Coarse facial features, Tented upper lip vermilion, Sensorineural heari...	OMIM:620075
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Long face, Micrognathia, Dental malocclusion, Cleft pal...	OMIM:265000
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Thick hair, Abnormality o...	ORPHA:581
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Protruding ear, Low-set ears, Overfolded helix, Macrotia, Broad eyebro...	ORPHA:481152
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Enamel hypoplasia, Microtia, Retrognathia	OMIM:210720
Deeah Syndrome	Death in infancy, Malabsorption, Narrow mouth, Narrow palate, Death in adolescence, Death in chil...	OMIM:619004
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormal dental enamel morphology, Abnormali...	ORPHA:2363
Adnp Syndrome	Thin upper lip vermilion, Trigonocephaly, Thick lower lip vermilion, Brachycephaly, Protruding ea...	ORPHA:404448
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A...	OMIM:618021
Noonan Syndrome 13	Coarse facial features, Posteriorly rotated ears, Micrognathia, Wide mouth, Plagiocephaly, High p...	OMIM:619087
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Coarse facial features, Micrognathia, Pierre-Robin sequence, Gingival overgrowt...	OMIM:300868
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl...	ORPHA:3426
Developmental And Epileptic Encephalopathy 6B	Narrow mouth	OMIM:619317
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Amelogenesis imperfecta	OMIM:601216
Ververi-Brady Syndrome	Thin upper lip vermilion, Cupped ear, Wide mouth, Everted lower lip vermilion, High palate, Low-s...	OMIM:617982
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Wide mouth, Widely spaced teeth, Macrotia, Hearing impairment	OMIM:619877
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Frontal bossing, ...	ORPHA:192
9Q33.3Q34.11 Microdeletion Syndrome	Round face, Abnormal pinna morphology, Tented philtrum, Brachycephaly, Plagiocephaly, Thin vermil...	ORPHA:495818
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Nizon-Isidor Syndrome	Thin upper lip vermilion, High, narrow palate, Downturned corners of mouth, Short philtrum, Evert...	OMIM:618872
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Pfeiffer Syndrome	Mandibular prognathia, Turricephaly, Hypoplasia of the zygomatic bone, High palate, Short philtru...	ORPHA:710
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth	ORPHA:83473
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Diastema, Downturned corners of mouth, Wide mouth, Low-set ears, Volvul...	OMIM:615009
Ramos-Arroyo Syndrome	Frontal bossing, Aganglionic megacolon, Carious teeth, Narrow mouth, Xerostomia, Smooth tongue, B...	ORPHA:1051
Ring Chromosome 7 Syndrome	Mandibular prognathia, Prominent crus of helix, Brachycephaly, Cleft palate, Plagiocephaly, Thin ...	ORPHA:1449
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla	ORPHA:2776
Campomelic Dysplasia	Irregular dentition, Midface retrusion, Frontal bossing, Hearing impairment, Micrognathia, Cariou...	OMIM:114290
Bazex-Dupré-Christol Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:113
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide mouth, Abnormal facial shape	OMIM:113477
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Brachycephaly, Wide mouth, Low-set ears, Long philtrum, Abnormal facial shape	OMIM:608776
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the premaxilla, Microgna...	ORPHA:2166
De Barsy Syndrome	Delayed eruption of teeth, Narrow mouth, Brachycephaly, Large earlobe, High palate, Bilateral sen...	ORPHA:2962
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Hypoplasia of the maxilla, Sensorineural hearing imp...	ORPHA:96129
Developmental And Epileptic Encephalopathy 87	Wide mouth, High palate, Widely spaced teeth, U-Shaped upper lip vermilion, Midface retrusion	OMIM:618916
Branchiootic Syndrome 3	Branchial cyst, Sensorineural hearing impairment	OMIM:608389
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Abnormal auditory ...	OMIM:109120
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Micrognathia, Patent ductus arteriosus, Protruding ear,...	ORPHA:261337
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Wide anterior fontanel, Submucous cleft hard palate, Temporomandibular...	OMIM:275210
Branchiooculofacial Syndrome	Posteriorly rotated ears, Supernumerary nipple, Micrognathia, Short neck, Sensorineural hearing i...	OMIM:113620
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Micrognathia, Narrow mouth, Sensorineural hearing impairment, Thin vermili...	OMIM:616007
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Menke-Hennekam Syndrome 1	Short ear, Thin upper lip vermilion, Everted upper lip vermilion, Prominent inferior crus of anti...	OMIM:618332
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Jansen-De Vries Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Parietal foramina, Wide mouth, Low-set ears	OMIM:617450
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Cleft palate, Lobulated tongue, High ...	OMIM:258860
Charge Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Narrow face, Facial asymmetry, Clef...	ORPHA:138
Aspartylglucosaminuria	Mandibular prognathia, Large face, Coarse facial features, Abnormality of the dentition, Carious ...	ORPHA:93
Transaldolase Deficiency	Wide anterior fontanel, Deep philtrum, Wide mouth, Thin vermilion border, Short philtrum, Low-set...	OMIM:606003
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:397973
Holoprosencephaly	Encephalocele, Highly arched eyebrow, Short neck, External ear malformation, Synophrys, Spinal dy...	ORPHA:2162
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Frontal bossing, Cloverleaf skull, Hypoplasia o...	ORPHA:87
Immunodeficiency 9	Respiratory insufficiency due to muscle weakness, Failure to thrive, Hypoplasia of the thymus	OMIM:612782
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla	OMIM:156510
Zttk Syndrome	Frontal bossing, Midface retrusion, Facial asymmetry, Abnormality of the dentition, Hypoplasia of...	OMIM:617140
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Micrognathia, Narrow mouth	ORPHA:1979
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Macrodontia, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the ...	ORPHA:2916
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Narrow mouth, Deat...	OMIM:619147
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Carious ...	OMIM:607812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Frontal bossing, Turricephaly, Abnormal pinna morphology, Craniosynostosis, High, narrow palate, ...	ORPHA:95699
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Wide mouth, Median pseudocleft lip, Low-set ears, Recurrent otitis media, Retrognathia	OMIM:619758
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Craniosynostosis, Micrognathia, Scaphocephaly, Microtia, Thick vermilion border,...	OMIM:620005
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Long face, Dolichocephaly, An...	ORPHA:459070
Fountain Syndrome	Craniofacial hyperostosis, Round face, Coarse facial features, Sensorineural hearing impairment, ...	ORPHA:3219
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft palate, Prominent occiput...	OMIM:603736
Intellectual Disability-Strabismus Syndrome	Long face, Facial asymmetry, Abnormality of the dentition, Micrognathia, Wide mouth, Plagiocephal...	ORPHA:363528
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Trichohepatoenteric Syndrome 1	Frontal bossing, Villous atrophy, Narrow mouth, Wide mouth, Microtia, Low-set ears, Long philtrum...	OMIM:222470
Craniofacial Microsomia 1	Hemifacial hypoplasia, Cleft upper lip, Hypoplasia of the maxilla, Conductive hearing impairment,...	OMIM:164210
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal facial shape, Abnormality of primary teeth, Gingivitis, Narrow mouth	ORPHA:75496
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Posteriorly rotated ears, Mis...	ORPHA:96334
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1248
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera...	OMIM:620099
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Exaggerated cupid's bow, Posteriorly rotated ears, Dolichocephaly, Cupped ear, P...	OMIM:619480
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Posteriorly rotated ears, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Posteriorly rotated ears, Micrognathia, Open bite, Deep philtrum, Brachycephaly,...	ORPHA:1974
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Coarse facial features, Wide mouth, High palate, Short philtrum	ORPHA:280763
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, High palate, Narrow mouth	OMIM:616866
Warburg-Cinotti Syndrome	Dental crowding, Posteriorly rotated ears, Gingival overgrowth, High palate, Atresia of the exter...	OMIM:618175
Oligomeganephronia	Branchial cyst, Micrognathia, Hearing impairment	ORPHA:2260
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Coarse facial features, Wide anterior fontanel, Abnormal ear...	ORPHA:116
Chromosome 1P36 Deletion Syndrome, Distal	Frontal bossing, Midface retrusion, Posteriorly rotated ears, Thickened helices, Asymmetry of the...	OMIM:607872
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Frontal bossing, Wide anterior fontanel, Wide mouth, Long philtrum, Ope...	OMIM:616638
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, Coarse facial features, Wide mouth, High palate, Short philtrum	OMIM:612936
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Posteriorly rotated ears, Intestinal malrotation, Fa...	OMIM:601776
Opitz Gbbb Syndrome	Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Cleft upper lip, Rectourethr...	OMIM:300000
Schwartz-Jampel Syndrome	Low-set, posteriorly rotated ears, Pursed lips, Death in infancy, Micrognathia, Narrow mouth, Sup...	ORPHA:800
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Umbilical hernia, Hearing impairment	OMIM:601499
Marden-Walker Syndrome	Posteriorly rotated ears, Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft pala...	ORPHA:2461
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Crouzon Syndrome	Conductive hearing impairment, Hypoplasia of the maxilla, Mandibular prognathia, Atresia of the e...	OMIM:123500
Spastic Paraplegia 47, Autosomal Recessive	Wide mouth, Coarse facial features, High palate, Short philtrum	OMIM:614066
Bartsocas-Papas Syndrome 1	Anal stenosis, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cupped ear, Cleft palate...	OMIM:263650
Zaki Syndrome	Micrognathia, Cupped ear, Wide mouth, Median pseudocleft lip, High palate, Short philtrum	OMIM:619648
Thakker-Donnai Syndrome	Posteriorly rotated ears, Tracheoesophageal fistula, Downturned corners of mouth, Rectovaginal fi...	ORPHA:1780
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Conductive hea...	OMIM:129900
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Pro...	OMIM:170390
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:300676
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Microretrognathia, Craniosynostosis, Abnormal occipital bone m...	ORPHA:468631
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Square face, Brachycephaly, Wide mouth, Thick vermilion border	ORPHA:85290
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum, Long face	ORPHA:314647
Fetal Akinesia Deformation Sequence 1	Posteriorly rotated ears, Micrognathia, High, narrow palate, Narrow mouth, Cleft palate, Stillbir...	OMIM:208150
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Anteriorly place...	OMIM:261540
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Hypoplasia of the...	ORPHA:1798
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Abnormality of the temporomandibular joint, H...	ORPHA:536471
C Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage, Death in infancy, Accessory o...	ORPHA:1308
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Diastema, Protruding ear, Downturned corners of mouth, Wide mouth, Low-...	ORPHA:329224
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Frontal bossing, Brachycephaly, Wide mouth, Low-set ears	OMIM:608688
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Patchy alopecia, ...	OMIM:300534
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Supernumerary nipple, Sensorineural hearing impairment, Increased nuchal translucency, Dental mal...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Supernumerary nipple, Sensorineural hearing impairment, Increased nuchal translucency, Dental mal...	ORPHA:352665
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Long face, Posteriorly rotated ears, Hiatus hernia, Micrognathia, Thick lower lip verm...	OMIM:614756
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Delayed eruption of teeth, Hearing impairment	ORPHA:950
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Cleft palate, ...	ORPHA:1912
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Posteriorly rotated ears, Hypoplastic philtrum, Gingival overgrowth,...	OMIM:618918
Lissencephaly 6 With Microcephaly	Wide mouth, Thin upper lip vermilion, Macrotia, Widely spaced teeth	OMIM:616212
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ...	ORPHA:193
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,...	OMIM:604292
Catel-Manzke Syndrome	Cleft upper lip, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Lo...	OMIM:616145
Ablepharon-Macrostomia Syndrome	Aplastic zygomatic arch, Microtia, third degree, Short upper lip, Wide mouth, Anteriorly placed a...	OMIM:200110
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Frontal bossing, Micrognathia, Cleft...	ORPHA:3379
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Wide mouth, Abnormal facial shape, Mandibular prognathia	ORPHA:411515
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thick eyebrow, Posteriorly rotated ears, Synophrys, Prominent antihelix, Branchial anomaly, Hirsu...	ORPHA:466950
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Coarse facial features, Downturned corners of mouth, Wide mouth, Everte...	OMIM:618067
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Narrow face, Aplasia/Hypoplasia of the tongue, Micrognathia, T...	ORPHA:958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Increased nuchal translucency, Branchial anomaly, Abnormal helix morphology, Cystic hygroma, Hear...	ORPHA:453499
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Down Syndrome	Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodenal stenosis, Macroglossia, Microti...	OMIM:190685
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Coarse facial features, Flat occiput, Micrognathia, Wide anterior fonta...	OMIM:249420
Iniencephaly	Abnormal occipital bone morphology, Orofacial cleft, Low-set ears, Narrow mouth, Mandibular aplas...	ORPHA:63259
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Mixed hearing impairment, Cleft upper lip, Brachycephaly, Cleft palate, Wi...	OMIM:201180
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Coarse facial features, Abnormal dental morphology, Sensorineural hearing impairmen...	ORPHA:217085
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Narrow mouth, En...	OMIM:226600
Ritscher-Schinzel Syndrome 4	Brachycephaly, Narrow palate, Wide mouth, Plagiocephaly, Thick vermilion border, High palate, Sho...	OMIM:619435
Otopalatodigital Syndrome, Type Ii	Frontal bossing, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, Cleft palate, St...	OMIM:304120
Hamamy Syndrome	Thin upper lip vermilion, Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Denta...	OMIM:611174
Hallermann-Streiff Syndrome	Natal tooth, Frontal bossing, Abnormality of the dentition, Micrognathia, High, narrow palate, Su...	ORPHA:2108
Shprintzen-Goldberg Craniosynostosis Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Wid...	OMIM:182212
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Craniosynostosis, Abnormality of the...	ORPHA:363611
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Duodenal polyposis, Abnormality of canine, Micrognathia, Narrow mouth, Ade...	ORPHA:261584
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Coarse facial features, Abnormal dental morphology, Sensorineural hearing impairmen...	ORPHA:217093
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Frontal bossing, Dental crowding, Micrognathia, Simple ear, High, narro...	OMIM:180849
Cerebrooculonasal Syndrome	Frontal bossing, Posteriorly rotated ears, Proboscis, Craniosynostosis, Conductive hearing impair...	OMIM:605627
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal pinna morphology, Prominent occiput, Hypoplasia of the zygomatic bone, High palate, Low-...	ORPHA:556955
Distal 16P11.2 Microdeletion Syndrome	Oval face, Aganglionic megacolon, Narrow mouth	ORPHA:261222
Hand-Foot-Genital Syndrome	Microtia, Miscarriage	ORPHA:2438
8P Inverted Duplication/Deletion Syndrome	Round face, Micrognathia, High, narrow palate, Abnormality of dental eruption, Retrognathia, Wide...	ORPHA:96092
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Protruding tongue, Gingival overgrowth, Brachycephaly, Wide mouth, Low-set ears	OMIM:618797
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Triangular face, Dental crowding, Hypoplasia of the maxilla, Narrow mouth,...	OMIM:617402
Martsolf Syndrome 1	Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Low pos...	OMIM:212720
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Brachyturricephaly, Vol...	ORPHA:314621
Townes-Brocks Syndrome 2	Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix, Anal atresia	OMIM:617466
Pettigrew Syndrome	Mandibular prognathia, Long face, Coarse facial features, Thickened calvaria, Sensorineural heari...	OMIM:304340
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Posteriorly rotated ears, Downturned corners of mouth, Wide mouth, High...	OMIM:618590
Juvenile Polyposis Of Infancy	Frontal bossing, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Hamartomato...	ORPHA:79076
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Broad skull, Cleft palate, Microtia, Short ph...	ORPHA:163979
Mucopolysaccharidosis Type 2	Otosclerosis, Coarse facial features, Sensorineural hearing impairment, Temporomandibular joint a...	ORPHA:580
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Large earlobe, Widow's peak, Short neck	OMIM:305400
Warburg Micro Syndrome 4	Long philtrum, Brachycephaly, Narrow mouth	OMIM:615663
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Patent ductus arteriosus, Micrognathia	OMIM:241310
C Syndrome	Posteriorly rotated ears, Accessory oral frenulum, Micrognathia, Wide mouth, High palate, Low-set...	OMIM:211750
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Wide anterior fontanel, Prominence of the premaxilla, Abnormality of th...	OMIM:614886
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Wide mouth, Retrognathia, Death in childhood, Micrognathia	OMIM:604273
Fryns Syndrome	Low-set, posteriorly rotated ears, Coarse facial features, Tented upper lip vermilion, Median cle...	ORPHA:2059
22Q11.2 Deletion Syndrome	Micrognathia, Short philtrum, Conductive hearing impairment, Chronic otitis media, Abnormal facia...	ORPHA:567
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla	OMIM:137550
Prolidase Deficiency	Micrognathia, Carious teeth, Abnormal facial shape, Hypoplasia of the zygomatic bone, Abnormality...	ORPHA:742
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Hearing impairment	ORPHA:782
Gand Syndrome	Wide mouth, Thin upper lip vermilion, Short philtrum	OMIM:615074
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Sensorineural hearing impairment, Dental malo...	OMIM:616737
Postaxial Acrofacial Dysostosis	Cleft upper lip, Conical tooth, Pyloric stenosis, Midgut malrotation, Cupped ear, Micrognathia, C...	OMIM:263750
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Sparse eyelashes, Hypoplasia of the maxilla, Sparse eyebrow, W...	ORPHA:306542
Adenylosuccinase Deficiency	Thin upper lip vermilion, Brachycephaly, Wide mouth, Low-set ears, Long philtrum, Smooth philtrum	OMIM:103050
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:1540
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Death in infancy, Dental crowding, Posteriorly rotated ears, Intestinal...	OMIM:615485
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Prominent antihelix, Enamel hypoplasia, Macrotia, Bifid...	OMIM:615802
Mosaic Trisomy 1	Microretrognathia, Frontal bossing, Coarse facial features, Abnormal pinna morphology, Thick lowe...	ORPHA:1692
Witteveen-Kolk Syndrome	Narrow face, Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Short philtrum, Hig...	OMIM:613406
Thalidomide Embryopathy	Anotia, Abnormality of the outer ear, Hearing impairment	ORPHA:3312
Orofaciodigital Syndrome Type 1	Frontal bossing, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Ha...	ORPHA:2750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Abnormally folded helix, Low-set ears, Micrognathia	OMIM:309520
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Brittle hair, Thick eyebrow, Highly arched eyebr...	OMIM:602535
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Micrognathia, Abnormal Eustachian tube morphology, Hyperplasia of the maxilla, Recurrent otitis m...	ORPHA:513456
Nicolaides-Baraitser Syndrome	High, narrow palate, Wide mouth, Thin vermilion border, Everted lower lip vermilion, Long philtru...	ORPHA:3051
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Micrognathia, Cleft palate, Wide mouth, Stillbirth, Low-...	OMIM:243605
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina, Sensorineur...	OMIM:603116
Diamond-Blackfan Anemia	Cleft soft palate, Micrognathia, Cleft lip, Microtia, High palate, Low-set ears, Adenocarcinoma o...	ORPHA:124
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Dental crowding, Posterior...	OMIM:268310
Shprintzen-Goldberg Syndrome	Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Low-set ears, ...	ORPHA:2462
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Conduc...	ORPHA:1071
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Frontal bossing, Coarse facial features, Cloverleaf skull, Craniosynostosis, Micrognathia, Narrow...	ORPHA:508533
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Thick vermilion border, Wide...	ORPHA:324540
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Carious teeth, Hypoplasia of the maxilla, Hypoplasia ...	ORPHA:50814
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Brachycephaly, Cleft palate, Downturned corners of mouth, Wi...	ORPHA:85276
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Coarse facial features, Hamartoma of tongue, Unicoronal synostosi...	OMIM:616300
Noonan Syndrome 4	Posteriorly rotated ears, Dental malocclusion, Wide mouth, Thick vermilion border, Low-set ears, ...	OMIM:610733
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Short neck, Micrognathia	OMIM:108721
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi...	ORPHA:37553
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Downturned corners of mouth, Wide mouth, Thin vermilion border, Broad face, Malar flattening, Mid...	OMIM:300860
Oculocerebral Hypopigmentation Syndrome, Cross Type	Narrow mouth, Sensorineural hearing impairment, Dolichocephaly, Microdontia, Abnormal palate morp...	ORPHA:2719
Ruvalcaba Syndrome	Thin vermilion border, Dental crowding, Narrow mouth	ORPHA:3121
Dubowitz Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anal stenosis, Narrow face, Cranios...	ORPHA:235
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorl...	OMIM:608670
Intellectual Developmental Disorder, X-Linked 103	Wide mouth, Coarse facial features	OMIM:300982
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Microtia, Duodenal atresia	OMIM:603467
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Thin upper lip vermilion, Frontal bossing, Micrognathia, Wide mouth, Widely-spaced maxillary cent...	ORPHA:363686
Barber-Say Syndrome	Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Atresia of the external auditor...	ORPHA:1231
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Intestinal fistula, Round face, Exag...	ORPHA:709
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Thin vermilion border, Narrow mouth	OMIM:612447
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Agenesis of central incisor, Conductive hearing impairme...	OMIM:252100
19Q13.11 Microdeletion Syndrome	Long face, Wide mouth, Thin vermilion border, Solitary median maxillary central incisor, Retrogna...	ORPHA:217346
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment	OMIM:122880
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Wide mouth, High, narrow palate, Downturned corners of mouth	OMIM:273390
Donohue Syndrome	Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Elfin facies, Low-set ears, Small fac...	OMIM:246200
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Dental malocclus...	OMIM:603457
Coffin-Siris Syndrome 5	Thin upper lip vermilion, Coarse facial features, Thick lower lip vermilion, Wide mouth, Short ph...	OMIM:616938
Monosomy 18Q	Mandibular prognathia, Sensorineural hearing impairment, Downturned corners of mouth, Wide mouth,...	ORPHA:1600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micrognathia, Pyloric stenosis, Cleft palate, Brachyturricephaly, Low-set ears, Narrow mouth, Cor...	ORPHA:83617
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, Supernu...	OMIM:213980
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Mandibular prognathia, Coarse facial features, Posteriorly rotated ear...	OMIM:135500
Spastic Paraplegia 52, Autosomal Recessive	Coarse facial features, Wide mouth, Thick vermilion border, High palate, Short philtrum	OMIM:614067
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Midf...	ORPHA:1394
Gm1-Gangliosidosis, Type Ii	Coarse facial features, Protruding tongue, Gingival overgrowth, Narrow mouth, Flat face	OMIM:230600
Cohen Syndrome	Hypoplasia of the maxilla, Macrodontia of permanent maxillary central incisor, Thick eyebrow, Mic...	OMIM:216550
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Hypoplasia of the maxilla, Increased nuchal translucency, Patent ductus...	ORPHA:79345
Isolated Arrhinia	Microtia, Hypoplasia of the nasal bone	ORPHA:1134
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Short neck, Hypoplasia of the maxilla, Synophrys, Low-set ears, Sparse hai...	OMIM:609460
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Martin-Probst Syndrome	Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Dental malocclusion, W...	OMIM:300519
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Large placenta, Costal cartilage calcification, Increase...	OMIM:215140
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Micrognathia, Intra-oral hyperpigmentation, Brachycephaly, Death in childhood, H...	OMIM:619127
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,...	OMIM:105830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Thin upper lip vermilion, Coarse facial features, Posteriorly rotated ears, Pro...	OMIM:619194
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Frontal bossing, Triangular face, Posteriorly rotated ear...	OMIM:264090
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Micrognathia, Thick lower lip ...	OMIM:619297
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Micrognathia, Narrow mouth	ORPHA:90154
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Holoprosencephaly 7	Bilateral cleft palate, Frontal bossing, Median cleft lip, Flat occiput, Bilateral cleft lip, Hyp...	OMIM:610828
Acrofacial Dysostosis 1, Nager Type	Posteriorly rotated ears, Aganglionic megacolon, Cleft upper lip, Micrognathia, Trismus, Velophar...	OMIM:154400
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Coarse facial features, Submucous cleft hard ...	ORPHA:1340
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Mucopolysaccharidosis Type 4	Coarse facial features, Abnormal dental enamel morphology, Abnormality of the dentition, Carious ...	ORPHA:582
Spastic Paraplegia 51, Autosomal Recessive	Narrow face, Coarse facial features, Wide mouth, Prominent antihelix, Short philtrum	OMIM:613744
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Sensorineural hearing impairm...	ORPHA:261236
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Atresia of the external auditory canal, Low-set ears, Nar...	OMIM:617666
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Facial asymmetry, Brachycephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Long ph...	OMIM:614800
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Frontal bossing, Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short phi...	OMIM:300967
Oculocerebrocutaneous Syndrome	External ear malformation, Orofacial cleft, Wide mouth, Calvarial skull defect, Hearing impairment	ORPHA:1647
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss...	ORPHA:89842
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Micrognathia, Wide mouth, Thick vermilion border, High palate, Short philtrum, Midface retrusion	OMIM:300986
Generalized Arterial Calcification Of Infancy	Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur...	ORPHA:51608
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Microtia, High palate, Widely spaced teeth, Long philtrum, Microdontia...	OMIM:143095
Fryns-Smeets-Thiry Syndrome	Micrognathia, Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower l...	ORPHA:2058
Microcephalic Primordial Dwarfism, Dauber Type	Microtia	ORPHA:319675
Hartsfield Syndrome	Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Cleft palate, Low-...	OMIM:615465
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Short lingual frenulu...	ORPHA:740
Temple-Baraitser Syndrome	Downturned corners of mouth, Wide mouth, Thick vermilion border, Long philtrum	OMIM:611816
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Narrow mouth, Sensorineural hearing impairmen...	ORPHA:1606
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth	OMIM:614833
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Retrognathia, Wide mouth, Anteriorly placed...	OMIM:619426
Epidermolysis Bullosa Simplex With Pyloric Atresia	Microtia, Congenital pyloric atresia, Oral mucosal blisters	ORPHA:158684
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Mixed hearing impairment, Absent nipple, Highly arched e...	ORPHA:1299
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Galloway-Mowat Syndrome 6	Downturned corners of mouth, Microdontia, Wide mouth, High palate	OMIM:618347
Noonan Syndrome 14	Coarse facial features, Posteriorly rotated ears, High, narrow palate, Wide mouth, Thick vermilio...	OMIM:619745
X-Linked Intellectual Disability, Cabezas Type	Open bite, Thick lower lip vermilion, Abnormal earlobe morphology, Wide mouth, High palate, Short...	ORPHA:85293
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Coarse facial features, Grayish enamel, Carious teeth, Wide mouth, Widely ...	OMIM:253000
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Wide mouth, Abnormal facial shape, Esophagitis, Micrognathia	ORPHA:79350
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairm...	OMIM:601812
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of ...	OMIM:149730
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth	ORPHA:411511
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of m...	OMIM:619950
Ulbright-Hodes Syndrome	Abnormal pinna morphology, Micrognathia, Potter facies, Prominent occiput, Thin vermilion border,...	ORPHA:3404
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Round face, Micrognathia, Prominent occiput, Stillbirth, Microtia, Short philtr...	OMIM:210710
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Hypoplasia of the premaxilla, External ear malformation, Abnormal tragus m...	ORPHA:2673
Bilateral Polymicrogyria	Micrognathia, Sensorineural hearing impairment, Wide mouth, Low-set ears, Difficulty in tongue mo...	ORPHA:268940
Alg9-Cdg	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Villous atrophy, Microretrognathia, ...	ORPHA:79328
Charge Syndrome	Mixed hearing impairment, Anal stenosis, Square face, Facial asymmetry, Cleft upper lip, Aplasia ...	OMIM:214800
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Coarse facial features, Brachycephaly, Wide mouth, Biparietal narrowing, Long ph...	ORPHA:1292
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Narrow face, Tented upper lip vermilion, Wide mouth, Abnormal facial shape, Open mouth	ORPHA:500533
Yunis-Varon Syndrome	Flat occiput, Micrognathia, Protruding ear, Abnormal calvaria morphology, Short philtrum, High pa...	OMIM:216340
Cerebrocostomandibular Syndrome	Death in infancy, Micrognathia, Cleft palate, Glossoptosis, Atresia of the external auditory cana...	ORPHA:1393
Intellectual Developmental Disorder, Autosomal Dominant 68	Frontal bossing, Posteriorly rotated ears, Wide mouth, High palate, Retrognathia, Absent earlobe	OMIM:619934
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Frontal bossing, Posteriorly rotated ears, Accessory oral frenulum, Micrognathia, Trigonocephaly,...	OMIM:266920
Cerebrocostomandibular Syndrome	Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Carious teeth, Cleft li...	OMIM:117650
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue	ORPHA:98795
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Frontal bossing, Coarse facial features, Uplifted earlobe, Cleft lip, ...	OMIM:280000
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Wide mouth, Open mouth, Thick upper lip vermilion, Long face	OMIM:611087
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Hypoplasia of the zygomatic bone	ORPHA:2835
8Q24.3 Microdeletion Syndrome	Microretrognathia, Branchial cyst, Posteriorly rotated ears, Asymmetry of the ears, Highly arched...	ORPHA:508488
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Failure to thrive, Apnea, Cryptorchidism	OMIM:214110
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Posteriorly rotated ears, Carious teeth, Downturned corners of mouth, Microtia, Thick vermilion b...	OMIM:619522
Pallister-Hall Syndrome	Low-set, posteriorly rotated ears, Natal tooth, Microretrognathia, Accessory oral frenulum, Cleft...	ORPHA:672
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Wide mouth, Thick vermilion border, Tooth malposition, Retrognathia	OMIM:619576
Trichohepatoneurodevelopmental Syndrome	Coarse facial features, Dental crowding, Brachycephaly, Steatorrhea, Downturned corners of mouth,...	OMIM:618268
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Brachycephaly, Downturned co...	OMIM:619503
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Submucous cleft ha...	ORPHA:2658
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Highly arched eyebrow, Hearing impairment	OMIM:265050
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Frontal bossing, Coarse facial features, Posteriorly rotated ears, Deep philtrum, Wide mouth, Low...	OMIM:617260
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Coarse facial features, Grayish enamel, Carious teeth, Wide mouth, Widely ...	OMIM:253010
Pitt-Hopkins Syndrome	Coarse facial features, Aganglionic megacolon, Hiatus hernia, Wide mouth, Thick vermilion border,...	ORPHA:2896
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Hypoplasia of the max...	OMIM:211380
Galloway-Mowat Syndrome 1	Flat occiput, Hiatus hernia, Micrognathia, Wide mouth, High palate, Low-set ears, Macrotia, Midfa...	OMIM:251300
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular dentition, Coarse facial features, Abnormal auditory evoked potentials, Sensorineural h...	OMIM:619260
Progressive Non-Infectious Anterior Vertebral Fusion	Round face, Micrognathia, Brachycephaly, Wide mouth, Thin vermilion border, Short philtrum, Abnor...	ORPHA:2062
Wiedemann-Rautenstrauch Syndrome	Abnormality of the ear, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Cra...	ORPHA:3455
Scheie Syndrome	Coarse facial features, Sensorineural hearing impairment, Wide mouth, Thick vermilion border, Eve...	ORPHA:93474
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Intermittent thrombocytopenia, Cryptorchidism, Erythroid hypoplasia, Thrombocytopeni...	OMIM:612541
Primrose Syndrome	Calcification of the auricular cartilage, Hypoplasia of the maxilla, Thick lower lip vermilion, B...	OMIM:259050
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Short neck, Hypoplasia of the maxilla, Eruption...	OMIM:166250
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla	OMIM:619142
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Turricephaly, Micrognathia, Wide mouth, Plagiocephaly, High palate, Short philtrum, Midface retru...	OMIM:620224
Restrictive Dermopathy	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Low-se...	ORPHA:1662
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft lip, Cleft palate, Wide m...	OMIM:618454
Trichothiodystrophy 5, Nonphotosensitive	Wide mouth, Widely spaced primary teeth, Mandibular prognathia	OMIM:300953
Intellectual Developmental Disorder, Autosomal Dominant 61	Wide mouth, Thin upper lip vermilion, Smooth philtrum	OMIM:618009
1P21.3 Microdeletion Syndrome	Wide mouth, Long ear, Micrognathia	ORPHA:293948
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Hypoplasia of the zygomatic bone	ORPHA:1295
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Microdontia, Adva...	OMIM:615873
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Downturned corners of mouth, Wide mouth, Short philtrum	OMIM:619759
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Abnormal facial s...	ORPHA:1942
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Umbilical hernia, Abnormality of the ear	ORPHA:1101
Fryns Syndrome	Microretrognathia, Coarse facial features, Tented upper lip vermilion, Aganglionic megacolon, Int...	OMIM:229850
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Wide mouth, Fusion of midd...	OMIM:157800
Mucopolysaccharidosis, Type Iiid	Frontal bossing, Coarse facial features, Thick lower lip vermilion, Wide mouth, Macroglossia, Thi...	OMIM:252940
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Tented upper lip vermilion, Dental m...	ORPHA:487796
Pitt-Hopkins Syndrome	Coarse facial features, Deep philtrum, Cupped ear, Wide mouth, Short philtrum, Widely spaced teet...	OMIM:610954
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth	ORPHA:98794
Phosphoribosylpyrophosphate Synthetase Superactivity	Sensorineural hearing impairment, Wide mouth, High palate, Low-set ears, Death in childhood, Tria...	OMIM:300661
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Death in infancy, Abnormal eyebrow morphology, Hypoplasia of t...	ORPHA:1106
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Hypoplasia of the maxilla, Aplasia/Hypoplas...	ORPHA:238468
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Hypoplasia of the maxilla, Carious teeth, Abnormal eyelash...	ORPHA:1775
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Breast aplasia, Sparse pubic hair	ORPHA:3044
Ataxia-Telangiectasia	Lymphopenia, Sinusitis, Diabetes mellitus, Female hypogonadism, Bronchiectasis, Acute lymphoblast...	OMIM:208900
Prader-Willi Syndrome Due To Translocation	Thin upper lip vermilion, Flat occiput, Micrognathia, Carious teeth, Alveolar ridge overgrowth, C...	ORPHA:177907
Townes-Brocks Syndrome	Rectoperineal fistula, Facial asymmetry, External ear malformation, Wide mouth, Anteriorly placed...	ORPHA:857
Weill-Marchesani Syndrome 2	Thickened helices, Hypoplasia of the maxilla, Patent ductus arteriosus, Umbilical hernia	OMIM:608328
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:101600
Scleromyxedema	Narrow mouth	ORPHA:167635
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Frontal bossing, Wide mouth, Abnormal facial shape, Long philtrum, Open mout...	ORPHA:457485
Hemihyperplasia-Multiple Lipomatosis Syndrome	Microtia	ORPHA:276280
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Abnormal pinna morphology, Low-set ears, Micrognathia	OMIM:614437
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Aicardi Syndrome	Prominence of the premaxilla, Sparse lateral eyebrow, Protruding ear	ORPHA:50
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Exaggerated cupid's bow, Micrognathia, Wide mouth, Macroglossia, High palate	OMIM:614501
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Hirsutism, Micrognathia	OMIM:259600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Sensorineural hearing impairmen...	OMIM:614207
Systemic Sclerosis	Abnormal small intestine morphology, Barrett esophagus, Abnormal large intestine morphology, Abno...	ORPHA:90291
Tenorio Syndrome	Wide mouth, Macroglossia, Mandibular prognathia, Recurrent aphthous stomatitis	OMIM:616260
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening	OMIM:231070
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Square face, Posteriorly rotated ears, Sensorineural hearing impairment...	ORPHA:466943
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Sensorineural hearing ...	OMIM:107480
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Malabsorption, Triangular face, Narrow mouth	OMIM:616539
Coffin-Siris Syndrome 1	Conical tooth, Brachycephaly, Short philtrum, High palate, Microdontia, Low-set ears, Retrognathi...	OMIM:135900
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Uplifted earlobe, Micrognathia,...	OMIM:619841
Mucolipidosis Ii Alpha/Beta	Coarse facial features, Trigonocephaly, Micrognathia, Craniosynostosis, Gingival overgrowth, Wide...	OMIM:252500
Vascular Ehlers-Danlos Syndrome	Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, narrow palate...	ORPHA:286
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Rect...	ORPHA:2929
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Hypoplasia of the maxilla, Absent ...	OMIM:305100
Nicolaides-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Short lingual frenulum, Posteriorly rotated ears, High...	OMIM:601358
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Round face, Macrotia, Narrow mouth	OMIM:614748
Short Stature And Microcephaly With Genital Anomalies	Narrow face, Narrow mouth	OMIM:618702
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth, Abnormal...	ORPHA:72
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Coarse facial features, Thick lower lip ve...	OMIM:614609
Baraitser-Winter Cerebrofrontofacial Syndrome	Coarse facial features, Micrognathia, Wide mouth, Thin vermilion border, Long philtrum, Trigonoce...	ORPHA:2995
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Cholesteatoma	OMIM:610978
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Abnormal dental morphology, Abnormal dental enamel morphology,...	ORPHA:818
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing...	ORPHA:828
Wiskott-Aldrich Syndrome	Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Dyspne...	ORPHA:906
Degcags Syndrome	Micrognathia, High palate, Abnormal facial shape, Hiatus hernia, Thick vermilion border, Low-set ...	OMIM:619488
Simpson-Golabi-Behmel Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Death in infancy, Coarse facial feature...	ORPHA:373
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Oral mucosal blisters, Carious teeth...	ORPHA:79408
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Wide mouth, Frontal bossing, Facial asymmetry	ORPHA:60040
Lipodystrophy, Familial Partial, Type 7	Triangular face, Tinnitus, Low-set ears, Narrow mouth	OMIM:606721
Acromelic Frontonasal Dysplasia	Wide mouth, Brachycephaly, Median cleft lip, Median cleft palate	ORPHA:1827
Floating-Harbor Syndrome	Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Short neck, Cochlear malf...	ORPHA:2044
X-Linked Intellectual Disability, Nascimento Type	Deep philtrum, Downturned corners of mouth, Wide mouth, Thin vermilion border, Macrotia, Midface ...	ORPHA:163956
Geleophysic Dysplasia 1	Round face, Wide mouth, Long philtrum, Thickened helices, Smooth philtrum	OMIM:231050
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Chylothorax, Thymus hyperplasia	OMIM:619036
Floating-Harbor Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Carious teeth, Conductive hearing impairment,...	OMIM:136140
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Coarse facial features, Thick lower lip verm...	ORPHA:1465
Meckel Syndrome, Type 1	Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Micrognathia, Cle...	OMIM:249000
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Patent ductus arteriosus	OMIM:277600
Syndromic Diarrhea	Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus...	ORPHA:84064
Aicardi Syndrome	Prominence of the premaxilla, Spina bifida, Sparse lateral eyebrow	OMIM:304050
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Recurrent pneumonia, Hypoplasia of the thymus, Tracheomalac...	OMIM:613177
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Williams Syndrome	Narrow face, Micrognathia, Rectal prolapse, Protruding ear, Microdontia, Chronic otitis media, Lo...	ORPHA:904
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Thin upper lip vermilion, Frontal bossing, Dental crowding, High, narrow palate, Wide mouth, Plag...	ORPHA:466791
Digeorge Syndrome	Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Asthma, ...	OMIM:188400
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla	OMIM:612731
Diets-Jongmans Syndrome	Thin upper lip vermilion, Hearing impairment, Wide mouth, Long ear, Duodenal atresia	OMIM:618846
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Hypoplasia of the maxilla, Sparse eyebrow, Patent ductus arteriosus after birth at te...	ORPHA:500150
Pallister-Killian Syndrome	Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Bifid uvula, Wide anterior font...	OMIM:601803
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Coarse facial features, Intestinal malro...	OMIM:312870
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hypoplasia of the thymus, Type I diabetes mellitus, Abnormal ductus ...	ORPHA:436252
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Short lingual frenulum, Craniosynostosis, Wide mouth, Plagiocephaly, High palate	ORPHA:1521
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Liver Disease, Severe Congenital	Dry hair, Micrognathia, Patent ductus arteriosus, Nail dystrophy, Recurrent otitis media, Umbilic...	OMIM:619991
Sotos Syndrome	No permanent dentition, Patent ductus arteriosus, Sparse anterior scalp hair, Delayed eruption of...	ORPHA:821
Aspartylglucosaminuria	Coarse facial features, Hypoplastic frontal sinuses, Thick lower lip vermilion, Brachycephaly, Wi...	OMIM:208400
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, High anterior hairline, Eruption failure, Hypoplasia of...	OMIM:182250
Proteus Syndrome	Thymus hyperplasia, Cachexia, Pulmonary embolism, Testicular neoplasm, Splenomegaly, Neoplasm of ...	ORPHA:744
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500
Truncus Arteriosus	Adrenocortical abnormality, Tachypnea, Hypoplasia of the thymus	ORPHA:3384
Immunodeficiency 82 With Systemic Inflammation	Recurrent otitis media, Cholesteatoma	OMIM:619381
Pmm2-Cdg	Mandibular prognathia, Thin upper lip vermilion, Abnormal pinna morphology, Retrognathia, Wide mo...	ORPHA:79318
Holoprosencephaly 2	Malar flattening, Aplasia of the premaxilla, Absent nasal septal cartilage	OMIM:157170
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Foxi3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxi3.

No publications found that use IMPC mice or data for Foxi3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Foxi3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Foxi3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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