Gene Summary

Name:
shroom family member 3
Synonyms:
Shrm,  Shrm3,  D5Ertd287e

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal body wall morphology Shroom3em1(IMPC)Bay HOM E18.5 0.00
protruding tongue Shroom3em1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Shroom3em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Shroom3em1(IMPC)Bay HOM   Early adult 0.00
spina bifida Shroom3em1(IMPC)Bay HOM E18.5 0.00
facial cleft Shroom3em1(IMPC)Bay HOM E18.5 0.00
abnormal tail morphology Shroom3em1(IMPC)Bay HOM E18.5 0.00
exencephaly Shroom3em1(IMPC)Bay HOM E18.5 0.00
microphthalmia Shroom3em1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

MicroCT E18.5

Embryo reconstruction

6 Images

Human diseases caused by Shroom3 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.

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

The table below shows human diseases predicted to be associated to Shroom3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia OMIM:600776
Facial Clefting, Oblique, 1
Microphthalmia, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li... ORPHA:1104
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior... OMIM:601357
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Facial cl... OMIM:607597
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis ORPHA:2476
Acalvaria
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Cerebrooculonasal Syndrome
Anophthalmia, Facial cleft, High palate, Widely spaced teeth, Solitary median maxillary central i... ORPHA:66625
Frontonasal Dysplasia 3
Microphthalmia, Facial cleft, Cleft palate OMIM:613456
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft, Cleft palate ORPHA:3374
Schisis Association
Omphalocele, Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, U... ORPHA:63862
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia OMIM:611638
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... ORPHA:952
Supernumerary Nostril
Facial cleft ORPHA:141096
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Spina bifida, Long philtrum OMIM:211960
Oculomaxillofacial Dysostosis
Median cleft lip, Abnormality of the dentition, Facial cleft, Cleft palate, Aplasia/Hypoplasia af... ORPHA:1794
Frontofacionasal Dysplasia
Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia ORPHA:1791
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth, Facial cleft, Toot... ORPHA:1786
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Caudal Duplication
Omphalocele, Spina bifida, Myelomeningocele, Spinal cord lesion, Intestinal duplication ORPHA:1756
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border,... OMIM:612938
Constricting Bands, Congenital
Omphalocele, Encephalocele, Cleft upper lip, Facial cleft, Cleft palate, Gastroschisis, Bladder e... OMIM:217100
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... OMIM:618106
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Facial cleft, Cleft palate, Cleft upper lip OMIM:239800
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Inguinal hernia, Protruding tongue, Hydrocephalus, Gingival overgrowth, ... ORPHA:93400
Icf Syndrome
Communicating hydrocephalus, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia ORPHA:2268
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Acropectorovertebral Dysplasia
High, narrow palate, Spina bifida, Cleft palate ORPHA:957
Craniorachischisis
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia... ORPHA:63260
Gombo Syndrome
Microphthalmia OMIM:233270
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:861
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus, Orofacial cleft ORPHA:324416
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Meningocele, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Juvenile Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93399
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Oculocerebrocutaneous Syndrome
Wide mouth, Hydrocephalus, Facial cleft, Orofacial cleft ORPHA:1647
Acromelic Frontonasal Dysostosis
Encephalocele, Midline facial cleft, Cleft palate OMIM:603671
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned corners ... ORPHA:1327
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98795
Mosaic Trisomy 9
Intestinal malrotation, Spina bifida, Facial cleft, Cleft palate, High palate, Microphthalmia ORPHA:99776
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Micro... OMIM:603194
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... OMIM:212066
Isolated Klippel-Feil Syndrome
Anal atresia, Ectopic anus, Spina bifida, Cleft palate ORPHA:2345
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... OMIM:618580
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... OMIM:610253
Joubert Syndrome 15
Exencephaly OMIM:614464
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Mmep Syndrome
Microphthalmia, Median cleft lip, Orofacial cleft ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Narrow mouth ORPHA:2528
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:411511
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue OMIM:105830
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Facial cleft, Tracheoesophageal fistula, Orofacial cleft, Microphthalmia ORPHA:268249
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Gingival overgrowth, Protruding tongue OMIM:618797
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip ... ORPHA:96147
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Protruding tongue ORPHA:561
Iniencephaly
Omphalocele, Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial... ORPHA:63259
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate OMIM:616570
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Lip pit, Facial cleft, Hypodontia, Microphthalmia, Abnormal palate morphology ORPHA:1236
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum OMIM:617804
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia OMIM:611561
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Ring Chromosome 22 Syndrome
Thick vermilion border, Protruding tongue ORPHA:1446
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Microphthalmia ORPHA:2117
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microglossia, Cleft palate, Hydranencephal... ORPHA:2839
Raine Syndrome
Natal tooth, Protruding tongue, Hydrocephalus, Gingival overgrowth, Cleft palate, Wide mouth, Hig... OMIM:259775
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia OMIM:218670
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Microphthalmia OMIM:613885
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... OMIM:301040
Fountain Syndrome
Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Everted lower lip vermi... ORPHA:3219
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Joubert Syndrome 1
Macroglossia, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue OMIM:213300
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate OMIM:164180
Nanophthalmos
Microphthalmia ORPHA:35612
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Microphthalmia ORPHA:1135
Waardenburg Syndrome Type 1
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... ORPHA:894
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate ORPHA:1617
Frontonasal Dysplasia 2
Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Microphthalmia... OMIM:613451
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, High palate, Short philtrum, Protruding tongue OMIM:300963
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper li... OMIM:219000
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo... ORPHA:487825
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Spina bifi... ORPHA:2437
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Non-midline cleft lip, Meningocele, Anencephaly, Cleft palate, Spin... ORPHA:1908
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Microphthalmia, Facial cleft, Cleft palate ORPHA:306542
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth OMIM:608779
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h... ORPHA:1393
Peroxisome Biogenesis Disorder 1A (Zellweger)
Macroglossia, High, narrow palate, High palate, Protruding tongue OMIM:214100
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro... ORPHA:99843
Angelman Syndrome
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:72
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephal... ORPHA:3412
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Microphthalmia, Syndromic 8
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph... OMIM:601349
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia OMIM:611134
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus ORPHA:141333
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate OMIM:615524
Hydrolethalus
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle... ORPHA:2189
Trisomy 20P
Smooth philtrum, Inguinal hernia, Spina bifida, Abnormality of the dentition, Downturned corners ... ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Macroglossia, Hydrocephalus OMIM:613155
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Inguinal hernia, Protruding tongue, High palate, Umbilical hernia OMIM:617062
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Pierpont Syndrome
Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever... OMIM:602342
Isolated Arrhinia
Microphthalmia, Facial cleft ORPHA:1134
Bartsocas-Papas Syndrome 1
Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Facial cleft, Cleft palate, Oral sy... OMIM:263650
Sirenomelia
Spina bifida, Tracheoesophageal fistula, Anal atresia, Sirenomelia ORPHA:3169
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Frontonasal Dysplasia 1
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium... OMIM:136760
3Mc Syndrome 3
Facial cleft, Cleft palate, Cleft upper lip OMIM:248340
Holoprosencephaly 1
Alobar holoprosencephaly, Facial cleft, Microphthalmia, Ethmocephaly, Median cleft lip and palate OMIM:236100
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena... OMIM:619777
Diabetic Embryopathy
Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Cleft palate, Spinal dysraphism ORPHA:1926
Trisomy 18
Omphalocele, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anencephaly, Narrow palate,... ORPHA:3380
Xk Aprosencephaly Syndrome
Microphthalmia, Anal atresia, Narrow mouth ORPHA:3469
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations OMIM:613435
Fontaine Progeroid Syndrome
Thin upper lip vermilion, Protruding tongue, High, narrow palate, Hydrocephalus, Anteriorly place... OMIM:612289
Microphthalmia, Syndromic 13
Microphthalmia, Widely-spaced incisors OMIM:300915
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Spin... ORPHA:2092
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Spina bifida, High, narrow palate, Supernumerary tooth, De... OMIM:234100
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Braddock-Carey Syndrome 2
Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate OMIM:619981
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion ORPHA:1466
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Smooth philtrum OMIM:602501
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida ORPHA:99742
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Achondrogenesis, Type Ia
Protruding tongue OMIM:200600
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus... OMIM:147250
Triploidy
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Hydrocephalus, Meningocele, Ab... ORPHA:3376
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Monosomy 18P
Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Holoprosenc... ORPHA:1598
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Microphthalmia, Short philtrum, Omphalocele ORPHA:93267
Lumbar Syndrome
Spina bifida, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia ORPHA:83628
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Hydrocephalus, Everted lower lip vermilion, High palate, Short... OMIM:613776
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Orofacial cleft, Hypoplastic iris stroma, Smooth philtrum OMIM:193500
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia OMIM:614583
Seckel Syndrome 2
Microdontia, Microphthalmia, Microglossia OMIM:606744
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Degcags Syndrome
Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth, High palate, Thi... OMIM:619488
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Neu-Laxova Syndrome 2
Spina bifida, High palate, Cleft palate OMIM:616038
Cloacal Exstrophy
Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad... ORPHA:93929
Warburg Micro Syndrome 1
Microphthalmia, Thin vermilion border, Narrow mouth OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Hartnup Disorder
Glossitis OMIM:234500
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Protruding tongue ORPHA:50945
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum ORPHA:228390
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s... OMIM:109400
Temtamy Syndrome
Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology ORPHA:1777
Fanconi Anemia, Complementation Group R
Tethered cord, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal atresia OMIM:617244
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus ORPHA:858
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Short philtr... OMIM:614424
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Microphthalmia, Widely spaced teeth OMIM:619694
Nail-Patella Syndrome
Spina bifida, Microphakia, Cleft palate, Cleft upper lip OMIM:161200
Neu-Laxova Syndrome
Abnormality of the philtrum, Spina bifida, Submucous cleft hard palate, Cleft palate, Thick vermi... ORPHA:2671
Cat-Eye Syndrome
Microphthalmia, Anal atresia ORPHA:195
Frontorhiny
Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid... ORPHA:391474
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat... OMIM:612530
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Wildervanck Syndrome
Meningocele ORPHA:3456
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Tethered cord, Bifid uvula, Spinal dysraphism OMIM:617660
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Microphthalmia ORPHA:85284
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... OMIM:309580
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Limb Body Wall Complex
Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Abnormal spinal cord mor... ORPHA:2369
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Cleft ... OMIM:619148
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Humero-Radial Synostosis
Meningocele ORPHA:3265
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus, Ankyloglossia OMIM:602361
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Holoprosencephaly
Omphalocele, Encephalocele, Median cleft lip, Anophthalmia, Bilateral cleft lip, Deep philtrum, H... ORPHA:2162
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Blepharocheilodontic Syndrome 1
Neural tube defect, Anal atresia OMIM:119580
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Downturned corners... ORPHA:404440
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Microphthalmia ORPHA:370959
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Microphthalmia, Hydrocephalus, Short philtrum ORPHA:163966
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... ORPHA:77298
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Long philtrum OMIM:300887
Joubert Syndrome 18
Lobulated tongue, Occipital encephalocele, Cleft palate OMIM:614815
17Q12 Microduplication Syndrome
Microphthalmia, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Trisomy 8Q
Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo... ORPHA:1752
22Q11.2 Deletion Syndrome
Inguinal hernia, Aganglionic megacolon, Intestinal malrotation, Abnormal dental enamel morphology... ORPHA:567
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Re... OMIM:600145
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Aicardi Syndrome
Spina bifida, Hiatus hernia, Cleft upper lip, Cleft palate, Microphthalmia OMIM:304050
Ring Chromosome 10 Syndrome
Microphthalmia, Thin vermilion border, Aganglionic megacolon, Long philtrum ORPHA:1438
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia OMIM:614105
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Microphthalmia, Inguinal hernia ORPHA:3191
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Trisomy 13
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cleft palate, ... ORPHA:3378
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus OMIM:613153
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Alg3-Cdg
Abnormality of the gastrointestinal tract, Neural tube defect, Macroglossia, High palate, Decreas... ORPHA:79321
Holoprosencephaly 7
Omphalocele, Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip... OMIM:610828
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Microphthalmia OMIM:214150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Natal tooth, Encephalocele, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete... OMIM:616300
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Cataract-Intellectual Disability-Hypogonadism Syndrome
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition ORPHA:1387
Nance-Horan Syndrome
Microphthalmia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Cleft upper lip, Esophageal atresia, Facial cleft, Ectopic anus, Long philtrum, Bifi... ORPHA:93271
Fanconi Anemia, Complementation Group S
Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion OMIM:617883
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, High, narrow palate, Cleft palate, Anteriorly placed anus, Long philtru... OMIM:618494
Jacobsen Syndrome
Smooth philtrum, Inguinal hernia, Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnorma... ORPHA:2308
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short ph... OMIM:616449
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... OMIM:613150
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum ORPHA:85194
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Fanconi Anemia
Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydrocephalus, Tracheoesoph... ORPHA:84
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Downturned corners of mouth, Macroglossia, Wide mouth, High palate, Wid... ORPHA:369891
Bartsocas-Papas Syndrome 2
Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate OMIM:619339
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, Spina bifida, Long philtrum, Microphthalmia ORPHA:508498
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Microphthalmia, Smooth philtrum OMIM:618652
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Microphthalmia ORPHA:163649
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Long philtrum, Microphtha... OMIM:243310
Fetal Alcohol Syndrome
Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Microphthalmia, Smoot... ORPHA:1915
Marden-Walker Syndrome
Inguinal hernia, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Narrow mouth, ... OMIM:248700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Glossoptosis, Meningocele ORPHA:2031
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia ORPHA:2505
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Duodenal stenosis ORPHA:2547
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Orofacial cleft,... ORPHA:2166
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Pseudotrisomy 13 Syndrome
Omphalocele, Encephalocele, Cleft upper lip, Hydrocephalus, Holoprosencephaly, Microphthalmia, An... OMIM:264480
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia OMIM:619318
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Exencephaly, Long philtrum ORPHA:2211
Pagod Syndrome
Omphalocele, Encephalocele, Meningocele, Spina bifida ORPHA:991
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum OMIM:613443
Stevenson-Carey Syndrome
Downturned corners of mouth, Microphthalmia, Pierre-Robin sequence, Narrow mouth OMIM:611961
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Exaggerated cupid's bow, Spina bifida, Thick vermilion border, Narrow mouth, Bifid... OMIM:619480
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Neurocutaneous Melanocytosis
Death in infancy, Meningocele ORPHA:2481
Campomelic Dysplasia
Irregular dentition, Spina bifida, Carious teeth, Hydrocephalus, Submucous cleft hard palate, Cle... OMIM:114290
Temtamy Syndrome
Microphthalmia, Long philtrum, Dental crowding, Hypoplasia of teeth OMIM:218340
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ... OMIM:620098
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... OMIM:601707
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth OMIM:613604
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Cleft palate, Dow... ORPHA:435638
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Neu-Laxova Syndrome 1
Spina bifida, Cleft upper lip, Swollen lip, Thick lower lip vermilion, Cleft palate, Short umbili... OMIM:256520
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus OMIM:614219
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Inguinal hernia, Lens coloboma, Umbilical hernia OMIM:618914
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus OMIM:300863
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
Fryns Syndrome
Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr... ORPHA:2059
Moebius Syndrome
Microphthalmia, High palate, Bifid uvula, Abnormality of the dentition OMIM:157900
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia ORPHA:3301
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
3Q29 Microduplication Syndrome
Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anus, High palate, Aniridia, M... ORPHA:251038
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum OMIM:616395
Sandestig-Stefanova Syndrome
Microphthalmia, High palate, Orofacial cleft OMIM:618804
Rubinstein-Taybi Syndrome 1
Thin upper lip vermilion, Dental crowding, Spina bifida, High, narrow palate, Talon cusp, Dental ... OMIM:180849
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... ORPHA:3241
Heart And Brain Malformation Syndrome
High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted lower lip vermilion, Microphth... OMIM:616920
Walker-Warburg Syndrome
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula ORPHA:899
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft lip and palate ORPHA:2003
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microphthalmia With Limb Anomalies
Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphthalmia OMIM:206920
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Dental malocclusion, Hypoplasia of teeth, Macrodontia... OMIM:257850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Joubert Syndrome 37
Microphthalmia, High palate OMIM:619185
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtrum, Microphthalmia OMIM:618571
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia OMIM:248450
Rodrigues Blindness
Microphthalmia, Tooth malposition OMIM:268320
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate OMIM:619053
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphthalmia ORPHA:2728
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal dental morphology, Spina bifida, Hydrocephalus, Dural ectasia, Everted lower lip vermili... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal dental morphology, Spina bifida, Hydrocephalus, Dural ectasia, Everted lower lip vermili... ORPHA:363958
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Nance-Horan Syndrome
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... OMIM:174300
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Hydrocephalus, High palate, Long philtrum, Microphthalmia, Ankyloglossia ORPHA:250989
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure... ORPHA:2250
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Ohdo Syndrome, X-Linked
Inguinal hernia, Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow m... OMIM:300895
Choreoacanthocytosis
Protruding tongue ORPHA:2388
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Hydrocephalus, Agenesis of incisor, Dental... OMIM:610829
Thrombocytopenia-Absent Radius Syndrome
Syringomyelia, Meckel diverticulum, Spina bifida, Cleft palate OMIM:274000
Meckel Syndrome
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Anencephaly, Cleft ... ORPHA:564
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated... OMIM:252100
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption, Gingival overgrowth, Spinal dysraphism, Aplasia/Hypoplasia ... ORPHA:175
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,... OMIM:618874
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, High palate ORPHA:139471
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate OMIM:610125
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... ORPHA:193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro... OMIM:618727
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meni... ORPHA:573278
8Q21.11 Microdeletion Syndrome
Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, High palate, ... ORPHA:284160
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Wid... OMIM:243605
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cousin Syndrome
Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microphthalmia, Microglo... OMIM:260660
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Thin vermilion border, Long philtrum, Microphthalmia, Bifid uvula OMIM:241410
3Q29 Microdeletion Syndrome
Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Everted lower lip ve... ORPHA:65286
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Cleft palate ORPHA:2311
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Myelo... OMIM:311200
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft ... ORPHA:464738
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate OMIM:257910
Oculotrichoanal Syndrome
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia ORPHA:2717
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Syringomyelia ORPHA:531151
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Warburg Micro Syndrome 4
Microphthalmia, Long philtrum, Narrow mouth OMIM:615663
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Hydroceph... OMIM:236670
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Hydrocephalus, Esophageal varix ORPHA:974
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... OMIM:616367
Congenital Fibrinogen Deficiency
Microphthalmia, Volvulus, Gingival bleeding ORPHA:335
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis, Spinal cord compression ORPHA:93346
Martsolf Syndrome 1
Inguinal hernia, High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition OMIM:212720
Skin Creases, Congenital Symmetric Circumferential, 1
Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia OMIM:156610
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Bilateral microphthalm... ORPHA:2563
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Cleft palate, Narrow mouth OMIM:251230
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Mandibuloacral Dysplasia
Dental crowding, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of teeth, High pa... ORPHA:2457
Warburg Micro Syndrome 3
Downturned corners of mouth, Microphthalmia, Narrow palate OMIM:614222
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Kapur-Toriello Syndrome
Microphthalmia, Intestinal malrotation, Orofacial cleft ORPHA:2328
Chromosome 8Q21.11 Deletion Syndrome
Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Short philtrum, ... OMIM:614230
Cleidocranial Dysplasia
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... ORPHA:1452
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Median cleft palate ORPHA:1827
Joubert Syndrome 2
Encephalocele, Microphthalmia, Hydrocephalus, High palate OMIM:608091
Otopalatodigital Syndrome Type 2
Omphalocele, Encephalocele, Myelomeningocele, Pierre-Robin sequence, Hydrocephalus, Cleft palate,... ORPHA:90652
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hydrocephalus, Orofacial cleft, Um... ORPHA:77301
Mosaic Trisomy 1
Omphalocele, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper lip, Wide mout... ORPHA:1692
Teebi-Shaltout Syndrome
High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Microphthalmia, Promine... OMIM:272950
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Long philtrum OMIM:615145
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Exstrophy-Epispadias Complex
Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Hydrocephalus, Bladder exstrophy, Anal... ORPHA:322
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Esophageal atresia, Tracheoesophageal fistu... OMIM:192350
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he... OMIM:115470
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... OMIM:277170
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Omphalocele, Occipital encephalocele, Int... OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:253800
Fraser Syndrome
Omphalocele, Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Myelom... ORPHA:2052
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue ORPHA:2759
Contractures-Developmental Delay-Pierre Robin Syndrome
Inguinal hernia, High, narrow palate, Cleft palate, Glossoptosis, Syringomyelia ORPHA:436003
Steinfeld Syndrome
Microphthalmia, Holoprosencephaly, Bifid uvula, Median cleft lip and palate OMIM:184705
Oculodentodigital Dysplasia
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,... OMIM:164200
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Deep philtrum, Umbilical hernia, Everted lower lip ver... OMIM:613884
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... ORPHA:1358
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border,... ORPHA:251014
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... OMIM:612109
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, High palate, High, narrow palate ORPHA:2789
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... ORPHA:464
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl... ORPHA:568
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Curry-Jones Syndrome
Microphthalmia, Intestinal malrotation ORPHA:1553
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Meningocele, High palate, Hepatic failure ORPHA:46059
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Kapur-Toriello Syndrome
Microphthalmia, Intestinal malrotation, Cleft palate, Cleft upper lip OMIM:244300
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth OMIM:615065
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Short-Rib Thoracic Dysplasia 12
Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of... OMIM:269860
Duane-Radial Ray Syndrome
Anal stenosis, Optic disc hypoplasia, Aganglionic megacolon, Microphthalmia, Spina bifida occulta... OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:614643
Micro Syndrome
Microphthalmia, High palate, Short philtrum ORPHA:2510
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Gastros... ORPHA:989
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Abnormality of the dentition ORPHA:1806
Frontofacionasal Dysplasia
Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula OMIM:229400
Dubowitz Syndrome
Delayed eruption of teeth, Inguinal hernia, Carious teeth, Velopharyngeal insufficiency, Submucou... OMIM:223370
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel morphology, Ope... ORPHA:534
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Microphtha... OMIM:146510
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele, Cleft palate, High palate, Umbilical hernia OMIM:130720
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... ORPHA:2108
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Duodenal stenosis ORPHA:2470
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Tetraamelia Syndrome 1
Cleft upper lip, Hydrocephalus, Cleft palate, Gastroschisis, Microphthalmia, Anal atresia OMIM:273395
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentitio... ORPHA:1507
Meckel Syndrome 14
Microphthalmia, Occipital encephalocele, Holoprosencephaly OMIM:619879
Otopalatodigital Syndrome, Type Ii
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Narrow mouth, Umbilical hernia OMIM:304120
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... OMIM:611209
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome