Gene Summary

Name:
post-GPI attachment to proteins 2
Synonyms:
Frag1,  clpex,  1810006G21Rik

IMPC Data Collections

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
preweaning lethality, complete penetrance Pgap2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

DSS Histology

Images

8 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 125 images

View all 6 images

Human diseases caused by Pgap2 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.

The table below shows human diseases associated to Pgap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Plagiocephaly, Aganglionic megacolon, Short philtrum, Abnormal parietal bone morph... ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Aganglionic megacolon, Anal stenosis, Cleft palate, Wide mouth, Tented upper lip vermilion OMIM:614207

The table below shows human diseases predicted to be associated to Pgap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Irregular dentition, Cleft upper lip, Cleft lower lip, Diastema, Median cleft upp... ORPHA:401942
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Parietal Foramina 1
Cleft upper lip, Parietal foramina, Cleft palate, Encephalocele OMIM:168500
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Anencephaly 2
Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Isolated Dandy-Walker Malformation
Encephalocele, Prominent occiput, Frontal bossing, Cleft palate, Platybasia ORPHA:217
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Thomas Syndrome
Cleft upper lip, Cleft palate, Dolichocephaly ORPHA:3316
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema, High palate OMIM:613611
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Short philtrum, Ectopic anus, Downturned corners of mouth, Cleft palate ORPHA:94066
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion, Cleft... OMIM:613885
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Mmep Syndrome
Orofacial cleft, Microphthalmia, Ventricular septal defect, Median cleft upper lip ORPHA:3434
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Kleefstra Syndrome 2
Plagiocephaly, Bifid uvula, Everted lower lip vermilion OMIM:617768
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate ORPHA:2476
Cleft Lip-Retinopathy Syndrome
Non-midline cleft of the upper lip ORPHA:1995
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly ORPHA:1681
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Dental crowding, Frontal bossing, Plagiocephaly OMIM:619264
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Orofacial cleft, Plagiocephaly, Intestinal malrotation, Incomplete cleft of the upper lip, Deep p... ORPHA:77300
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Cleft upper lip ORPHA:85287
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Short philtrum, Alobar holoprosencephaly, High palate, Dolichocephaly OMIM:615433
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput, Smooth philtrum, Long philtrum, Thin upper lip vermilion ORPHA:46
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hydrocephalus, Broad philtrum, Long philtrum, Unilambdoid synostosis OMIM:618577
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Thick upper lip vermilion, Thick lower lip vermilion, Wide mouth OMIM:309545
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft of the upper lip ORPHA:2007
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Brachyturricephaly, Cleft upper lip,... OMIM:607597
Developmental And Epileptic Encephalopathy 65
Plagiocephaly, Tented upper lip vermilion OMIM:618008
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Cleft upper lip, Holoprosencephaly... OMIM:601357
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericardial effusion, A... ORPHA:1041
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Tooth malposition, High palate, Cleft palate OMIM:618603
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Oligodontia, Thin upper lip vermilion, Plagiocephaly OMIM:618330
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly, Thick vermilion border OMIM:619927
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Upturned corners of mouth, Pericardial effusion, Wide mouth, Long philtrum, Thin upper lip vermilion OMIM:614684
Meckel Syndrome, Type 5
Cleft upper lip, Occipital encephalocele, Cleft palate, Anencephaly OMIM:611561
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia, Cleft palate, Arthrogryposis multiplex congenita OMIM:616570
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Narrow mouth, Everted lower lip vermilion, Downturned corners of mouth, Cleft pala... OMIM:618089
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Cantu Syndrome
Bicuspid aortic valve, Long philtrum, Thick lower lip vermilion, Gingival overgrowth, Lymphedema,... OMIM:239850
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Cleft pal... OMIM:615524
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Narrow mouth, Atrial septal defect, Ventricular septal defect ORPHA:3469
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, High palate, Platystencephaly, Dolichocephaly OMIM:618774
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Cleft palate, Craniosynostosis OMIM:618265
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Microphthalmia, Syndromic 8
Orofacial cleft, Widely-spaced maxillary central incisors, Cleft palate, Cleft upper lip OMIM:601349
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
6Q25 Microdeletion Syndrome
Long philtrum, Plagiocephaly, Cleft palate, High palate ORPHA:251056
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Downturned corners of mouth, Dol... OMIM:618672
Faciocardiorenal Syndrome
Plagiocephaly, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia ORPHA:1973
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Oligo... OMIM:614702
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis ORPHA:2414
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Split hand/foot malformation 1 (SHFM1)
Cleft palate, Median cleft upper lip DECIPHER:46
Coffin-Siris Syndrome 6
Plagiocephaly, High, narrow palate, Short philtrum, Frontal bossing, Cleft palate, Deep philtrum OMIM:617808
Schisis Association
Anencephaly, Encephalocele, Tracheoesophageal fistula, Anal atresia, Spina bifida, Cleft palate, ... ORPHA:63862
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Long philtrum, Brachycephaly, Tented upper lip vermilion OMIM:619972
Hartsfield Syndrome
Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft palate, Cranios... ORPHA:2117
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Everted lower lip vermilion, Frontal bossing, Wide mouth, Open mout... OMIM:616789
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Short philtrum, Tooth agenesis, Downturned corners of mouth, Macrodontia OMIM:618731
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Microphthalmia, Umbilical hernia OMIM:615297
Intellectual Developmental Disorder, Autosomal Recessive 38
Narrow palate, Plagiocephaly OMIM:615516
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Aganglionic meg... ORPHA:2919
Congenital Heart Block
Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Peripheral edema, ... ORPHA:60041
Muenke Syndrome
Brachycephaly, Plagiocephaly, High, narrow palate, Hydrocephalus, Coronal craniosynostosis ORPHA:53271
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft, Frontal bossing, Dolichocephaly, Cleft palate, Median cleft ... ORPHA:3374
Acalvaria
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly, Calvarial skull defect ORPHA:945
Band Heterotopia
Hydrocephalus, Plagiocephaly OMIM:600348
Lessel-Kreienkamp Syndrome
Plagiocephaly, Frontal bossing, Open mouth, Dental malocclusion, Thin upper lip vermilion, Scapho... OMIM:619149
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Short philtrum, High palate, Everted lower lip vermilion, Tented upper lip vermili... OMIM:616579
Craniofrontonasal Dysplasia
Brachycephaly, Orofacial cleft, Plagiocephaly, High palate, Abnormality of the dentition, Frontal... ORPHA:1520
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Open mouth, Smooth philtrum, Thin ... OMIM:616801
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum OMIM:605282
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia/Coloboma 5
Orofacial cleft, Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:611638
Muenke Syndrome
Brachycephaly, Plagiocephaly, Cloverleaf skull, High palate, Coronal craniosynostosis, Dental mal... OMIM:602849
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly, High palate, Thin upper lip vermilion OMIM:618862
Pai Syndrome
Encephalocele, Abnormal oral frenulum morphology, Cleft palate, Bifid uvula, Median cleft upper lip ORPHA:1993
Rhizomelic Limb Shortening With Dysmorphic Features
Long philtrum, Plagiocephaly, Smooth philtrum OMIM:618821
Genitopalatocardiac Syndrome
Transposition of the great arteries, Cleft upper lip, Cleft palate, Double outlet right ventricle... OMIM:231060
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Cleft upper lip, Bifid uvula, Cleft palate OMIM:300958
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Plagiocephaly, Dolichocephaly, Brachycephaly ORPHA:272
Gómez-López-Hernández Syndrome
Hydrocephalus, Thin vermilion border, Turricephaly, Brachycephaly ORPHA:1532
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft upper lip, Cleft palate ORPHA:398189
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Exaggerated cupid's bow, Narrow mouth, Everted lower lip vermilion, Frontal bossin... OMIM:619720
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, Limb hypertonia, High palate, Multiple muscular ventricular septal defects, Peric... OMIM:620070
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Frontal bossing, Downturned corners of mouth, Tented upper lip verm... OMIM:618430
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Narrow palate, Plagiocephaly OMIM:617481
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly, High palate, Tented upper lip vermilion OMIM:620149
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft upper lip OMIM:155145
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Anal atresia, Cleft upper lip, Hypodontia OMIM:119580
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular ... OMIM:115197
Parc Syndrome
Cleft palate OMIM:600331
Orofaciodigital Syndrome Viii
Cleft palate, High palate, Median cleft upper lip OMIM:300484
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Plagiocephaly, Aganglionic megacolon, Short philtrum, Hydrocephalus, Abnormal rectum morphology, ... OMIM:239300
Chromosome 1Q41-Q42 Deletion Syndrome
Widely spaced teeth, Short philtrum, High palate, Trigonocephaly, Cleft upper lip, Frontal bossin... OMIM:612530
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Aganglionic megacolon, Anal stenosis, Anal atresia, Anterior plagiocephaly, Cleft ... OMIM:614749
Enlarged Parietal Foramina
Occipital encephalocele, Parietal foramina, Myelomeningocele, Cleft palate, Craniosynostosis, Cle... ORPHA:60015
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Charlie M Syndrome
Thin vermilion border, Short philtrum, Non-midline cleft of the upper lip, Narrow mouth, Tooth ag... ORPHA:1406
Craniofacial Microsomia 2
Submucous cleft palate, Bifid uvula, Dermal sinus tract OMIM:620444
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Keratoconus Posticus Circumscriptus
Cleft upper lip, Cleft palate OMIM:244600
Clark-Baraitser Syndrome
Brachycephaly, Short philtrum, Exaggerated cupid's bow, High palate, Downturned corners of mouth,... OMIM:617752
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Polyhydramnios, Patent foramen ovale, Notched primary central incisor, Right atrial enlargement, ... OMIM:620519
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate, Craniosynostosis OMIM:201550
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Short philtrum OMIM:613192
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Cleft pa... ORPHA:1104
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft upper lip, Median cleft palate OMIM:142946
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Brachycephaly ORPHA:2528
Houge-Janssens Syndrome 2
Hydrocephalus, Plagiocephaly, Tented upper lip vermilion, Open mouth OMIM:616362
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Plagiocephaly, Anal atresia, Tooth agenesis, Multiple ... ORPHA:2063
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip vermilion, Cleft lip OMIM:616898
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly, Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion borde... OMIM:618106
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Craniosynostosis, Thin upper lip v... ORPHA:314575
Bresek Syndrome
Hydrocephalus, Plagiocephaly, Cleft palate, Aganglionic megacolon ORPHA:85284
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Ascites, Pericardial effusion, Wide mouth, Long philtrum, Atrial septal defect OMIM:608776
Houge-Janssens Syndrome 3
Plagiocephaly, Short philtrum, High palate, Frontal bossing, Umbilical hernia OMIM:618354
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip OMIM:141400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Widely spaced teeth, High palate, Downturned corners of mouth, Wide... ORPHA:369891
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Craniofaciofrontodigital Syndrome
Long philtrum, Polyhydramnios, Cardiomegaly, Abnormal heart valve morphology, Gingival overgrowth... ORPHA:363705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Microphthalmia, Hydrocephalus, Calf muscle hypertrophy, Cardiomyopathy, Facia... OMIM:613155
Joubert Syndrome 26
Frontal bossing, Cleft lip, Cleft palate OMIM:616784
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, High palate, Anterior plagiocephaly, Frontal bossing, Downturned corners of mouth,... ORPHA:163649
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Abnormal palate morphology, Plagiocephaly, Abnormal dental enamel morphology, Ecto... ORPHA:85199
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, High palate, Solitary median maxillary central incisor, Cleft palate OMIM:602418
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin vermilion border, Plagiocephaly, Short philtrum, Spina bifida occulta, Prominent occiput, Sh... OMIM:617360
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Frontal bossing, Dolichocephaly, Long philtrum OMIM:619721
Frontonasal Dysplasia 1
Joint contracture of the hand, Microphthalmia, Pectoral muscle hypoplasia/aplasia, Anterior basal... OMIM:136760
Malan Overgrowth Syndrome
Plagiocephaly, Narrow mouth, High palate, Frontal bossing, Scaphocephaly ORPHA:420179
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Pericardial lymphangiectasia, Spina bifida occulta, Delayed eruption of teeth, Con... OMIM:235510
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cleft palate OMIM:214300
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Short philtrum, High palate, Smooth philtrum, Thin upper lip vermilion OMIM:619188
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Osteogenesis Imperfecta, Type Xx
Narrow palate, Brachycephaly, Plagiocephaly, High palate, Tented upper lip vermilion, Agenesis of... OMIM:618644
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel ... OMIM:619293
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Non-Distal Duplication 10Q
Brachycephaly, Frontal bossing, High palate, Everted lower lip vermilion ORPHA:1695
Glycogen Storage Disease Of Heart, Lethal Congenital
Peripheral edema, Pulmonary edema, Hydrocephalus, Cardiomyopathy, Ascites, Pleural effusion, Hype... OMIM:261740
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Trigonocephaly, Cleft palate ORPHA:1779
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Summitt Syndrome
Plagiocephaly, Craniosynostosis ORPHA:3210
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, Cleft palate, High palate OMIM:609654
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Cleft upper lip, Cleft palate, Spina bifida occulta OMIM:268850
Autosomal Recessive Amelia
Orofacial cleft, Polyhydramnios, Non-midline cleft of the upper lip, Abnormal cardiac septum morp... ORPHA:1027
Intellectual Disability, Wolff Type
Abnormal intestine morphology, Orofacial cleft, Thick lower lip vermilion, Non-midline cleft of t... ORPHA:3080
Lowry-Maclean Syndrome
Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Cleft upper lip, Bifid uvula, Tetralogy of Fallot, Cleft palate, Mitral ... OMIM:612561
Zechi-Ceide Syndrome
Cleft upper lip, Oligodontia, Cleft palate OMIM:612916
17Q12 Microduplication Syndrome
Atrial septal defect, Polyhydramnios, Cleft palate, Microphthalmia ORPHA:261272
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft of the upper lip, Bilateral cleft palate, Meningocele, Tooth agenesis ORPHA:2003
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Short philtrum, Frontal bossing, Tented upper lip vermilion, Smooth philtrum, Thin... ORPHA:371364
Trisomy 20P
Brachycephaly, Abnormal palate morphology, Thin vermilion border, Plagiocephaly, Short philtrum, ... ORPHA:261318
Ritscher-Schinzel Syndrome 4
Narrow palate, Brachycephaly, Plagiocephaly, Short philtrum, High palate, Wide mouth, Thick vermi... OMIM:619435
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Hydrocephalus, Exaggerated cupid's bow, High palate, Tented upper lip vermilion, D... OMIM:619833
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Righ... ORPHA:555874
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip ORPHA:1919
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Aica-Ribosiduria
Brachycephaly, Wide mouth, Thin upper lip vermilion ORPHA:250977
Potocki-Shaffer Syndrome
Brachycephaly, Turricephaly, Short philtrum, Parietal foramina, Downturned corners of mouth OMIM:601224
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Cleft palate, Microglossia, Median cleft upper lip OMIM:241800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Flat occiput, High palate, Thick vermilion border, Tented upper lip vermilion, Lon... OMIM:619383
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Muscular dystrophy, Orofacial cleft, Hydrocephalus ORPHA:324416
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate, Atrial sept... OMIM:611134
Craniosynostosis 2
Brachycephaly, Supernumerary tooth, Turricephaly, Cleft soft palate, Unicoronal synostosis, Bicor... OMIM:604757
Distal Monosomy 7Q36
Abnormal calvaria morphology, Non-midline cleft of the upper lip, Cleft palate, Wide mouth, Holop... ORPHA:1636
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Cleft upper lip, Bifid uvula, Cleft palate OMIM:608572
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent foramen ovale, Downturned corners of mouth, Smooth philtrum, Cardiomegaly,... OMIM:618652
Congenital Toxoplasmosis
Cardiomegaly, Microphthalmia, Ascites, Hydrocephalus ORPHA:858
Fg Syndrome Type 1
Plagiocephaly, Prominent occiput, Hydrocephalus, Dental crowding, High palate, Fused teeth, Abnor... ORPHA:93932
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly ORPHA:1143
Pentasomy X
Plagiocephaly ORPHA:11
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Short philtrum, Dental crowding, Frontal bossing OMIM:617296
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome
Frontal bossing, Deep philtrum, Tented upper lip vermilion ORPHA:2104
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Aarskog-Scott Syndrome
Orofacial cleft, Delayed eruption of teeth, Abnormality of the dentition, Everted lower lip vermi... ORPHA:915
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly, Thick lower lip vermilion, Abnormality of the dentition, Anal atres... ORPHA:261652
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Intestinal malrotation, Downturned corners of mouth, Cleft palate, Craniosynostosi... ORPHA:457193
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, High palate, Cardiomyopathy, Skeletal muscle atrophy OMIM:620089
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Plagiocephaly, Aganglionic megacolon, Short philtrum, Abnormal parietal bone morph... ORPHA:247262
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Cleft upper lip, Cleft palate, Narrow mouth OMIM:239800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Frontonasal Dysplasia 2
Brachycephaly, Widely spaced teeth, Encephalocele, Conical tooth, Parietal foramina, Tessier numb... OMIM:613451
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Polyhydramnios, Amyoplasia, Cleft upper lip, Cleft palate, Flexion contracture... OMIM:312150
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Microphthalmia, Ventricular hypertrophy, Tetralogy of Fallot, Lo... OMIM:300887
Alkuraya-Kucinskas Syndrome
Hydrocephalus, High palate, Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrog... OMIM:617822
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Microphthalmia, Ventricular septal defect, Smooth philtrum OMIM:602501
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Abnormal oral frenulum morphology, Camptodactyly of finger, Cleft... ORPHA:1617
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Holoprosencephaly, Median cleft upper lip ORPHA:2165
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Isotretinoin Syndrome
Cleft palate, Biparietal narrowing, Spina bifida occulta ORPHA:2305
Chromosome 17P13.1 Deletion Syndrome
Brachycephaly, Plagiocephaly, High, narrow palate, Turricephaly, Short philtrum, Hydrocephalus, H... OMIM:613776
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Open mouth, Umbilical hernia OMIM:617751
Chopra-Amiel-Gordon Syndrome
Brachycephaly, Short philtrum, Cleft palate, Pierre-Robin sequence, Smooth philtrum, Cleft lip, T... OMIM:619504
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Muscular dystrophy, Microphthalmia OMIM:614830
Waardenburg Syndrome Type 1
Aganglionic megacolon, Meningocele, Spina bifida, Cleft upper lip, Cleft palate, Tented upper lip... ORPHA:894
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly, Downturned corners of mouth, Deep philtrum OMIM:618859
Developmental And Epileptic Encephalopathy 84
Plagiocephaly, Thick lower lip vermilion, Smooth philtrum OMIM:618792
Congenital Enterovirus Infection
Myocarditis, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, Pericardial effus... ORPHA:292
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Submucous cle... OMIM:619227
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion, Plagiocephaly OMIM:619680
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Abnormal dental enamel morphology, Cleft palate, Hypodontia, Macrodontia ORPHA:2916
Juberg-Hayward Syndrome
Cleft upper lip, Anteriorly placed anus OMIM:216100
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Noonan Syndrome 13
Plagiocephaly, Widely spaced teeth, High palate, Microdontia, Wide mouth, Long philtrum, U-Shaped... OMIM:619087
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Holoprosencephaly, Plagiocephaly ORPHA:2163
Opitz-Kaveggia Syndrome
Narrow palate, Plagiocephaly, Thick lower lip vermilion, Anal stenosis, Hydrocephalus, Dental cro... OMIM:305450
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, My... ORPHA:1752
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, Pericardial effusion ORPHA:36412
Pierpont Syndrome
Thin vermilion border, Microphthalmia, Widely spaced teeth, Long upper lip, Everted lower lip ver... ORPHA:487825
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Open mouth, Umbilical hernia ORPHA:500159
Chromosome 6Pter-P24 Deletion Syndrome
Brachycephaly, Hydrocephalus, Dental crowding, Narrow mouth, High palate, Anal atresia, Abnormal ... OMIM:612582
Triploidy
Polyhydramnios, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Narrow mouth, Apl... ORPHA:3376
Hydrolethalus
Gingival cleft, Polyhydramnios, Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Bifid u... ORPHA:2189
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachycephaly, Thin vermilion border, Plagiocephaly, High palate, Microdontia, Frontal bossing, D... OMIM:610759
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft upper lip, Cl... OMIM:153400
Raine Syndrome
Brachycephaly, Plagiocephaly, Hydrocephalus, Gingival overgrowth, High palate, Narrow mouth, Micr... OMIM:259775
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, High palate, Pyloric stenosis, Frontal bossing, Dolichocephaly, Long philtrum, Sub... ORPHA:457279
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Holoprosencephaly 7
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Alobar holoprosencephaly,... OMIM:610828
Opitz Gbbb Syndrome
Rectourethral fistula, Solitary median maxillary central incisor, High palate, Anal atresia, Clef... OMIM:300000
Holoprosencephaly 11
Cleft lip, Cleft palate, Holoprosencephaly OMIM:614226
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, Thick lower lip vermilion, High palate, Frontal bossing, Tented upper lip vermilion OMIM:615828
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis, Brachycephaly OMIM:612247
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Cleft palate OMIM:244200
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Acrocallosal Syndrome
Everted upper lip vermilion, Prominent occiput, Abnormal oral frenulum morphology, Bifid uvula, W... OMIM:200990
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Advanced eruption of teeth, Broad alveolar ridges, Exaggerated cupid's bow, Narrow... ORPHA:2215
Trisomy 13
High, narrow palate, Hydrops fetalis, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iri... ORPHA:3378
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Cleft upper lip, Secundum atrial septal defect, Cleft p... OMIM:600987
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Microphthalmia, Patent foramen ovale, Increased nuchal translucency, Abnorma... OMIM:618494
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Downturned corners of mouth, Short philtrum ORPHA:52022
Acromelic Frontonasal Dysplasia
Brachycephaly, Encephalocele, Meningocele, Median cleft palate, Wide mouth, Median cleft upper lip ORPHA:1827
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Frontal bossing, Bifid uvula, Lobulated tongue... OMIM:174300
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Prune1-Related Neurological Syndrome
Plagiocephaly ORPHA:544469
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Baraitser-Winter Syndrome 1
Orofacial cleft, Trigonocephaly, Cleft upper lip, Wide mouth, Long philtrum, Thin upper lip vermi... OMIM:243310
Oculomaxillofacial Dysostosis
Tessier cleft, Cleft palate, Abnormality of the dentition, Median cleft upper lip ORPHA:1794
Bartsocas-Papas Syndrome 2
Bilateral cleft palate, Accessory oral frenulum, Bilateral cleft lip, Prominent occiput OMIM:619339
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Median cleft palat... OMIM:264480
Orofaciodigital Syndrome Ix
High palate, Abnormality of the dentition, Cleft palate, Accessory oral frenulum, Median cleft up... OMIM:258865
Primary Intestinal Lymphangiectasia
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Edema ORPHA:90362
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ventricular septal defect, Neonatal death OMIM:613730
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Cleft... ORPHA:1908
Pediatric Systemic Lupus Erythematosus
Myositis, Oral ulcer, Pleural effusion, Ascites, Pericardial effusion, Edema ORPHA:93552
Dystonia-Deafness Syndrome 1
Cleft upper lip, Cleft palate OMIM:607371
Frontofacionasal Dysplasia
Tessier cleft, Brachycephaly, Encephalocele, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Lymphoproliferative Syndrome 1
Stomatitis, Pericardial effusion, Pleural effusion OMIM:613011
Nanophthalmos
Microphthalmia ORPHA:35612
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Thin vermilion border, Dental crowding, Oligodontia, High palate, Narrow mouth, Cl... ORPHA:251019
Acrofrontofacionasal Dysostosis
Brachycephaly, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Clef... ORPHA:1784
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Prominent median palatal raphe, Cleft upper lip, Holop... OMIM:147250
Cerebrooculonasal Syndrome
Tessier cleft, Brachycephaly, Widely spaced teeth, Solitary median maxillary central incisor, Hig... ORPHA:66625
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Brachycephaly OMIM:613456
Alpha-Thalassemia
Generalized edema, Pericardial effusion, Hydrops fetalis, Pleural effusion ORPHA:846
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate OMIM:601076
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Robinow-Sorauf Syndrome
Plagiocephaly, Pansynostosis, Craniosynostosis OMIM:180750
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Cleft upper lip, Cleft palate OMIM:612284
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Ventricular septal defect, Short philtrum, Microphthalmia ORPHA:93267
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
8Q12 Microduplication Syndrome
Long philtrum, Narrow mouth, Everted lower lip vermilion, Brachycephaly ORPHA:228399
Thoracoabdominal Syndrome
Hydrocephalus, Cleft upper lip, Cleft palate, Anencephaly OMIM:313850
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Non-midline cleft of the upper lip, Microdontia,... ORPHA:1915
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Cleft palate, Tooth agenesis OMIM:147950
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Pierpont Syndrome
Thin vermilion border, Microphthalmia, Widely spaced teeth, Long upper lip, Prominent median pala... OMIM:602342
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Muscular dystrophy, Abnormal myocardium morphology ORPHA:300751
Smith-Magenis Syndrome
Brachycephaly, Short philtrum, Cleft upper lip, Frontal bossing, Cleft palate, Tented upper lip v... ORPHA:819
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:619053
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft of the upper lip, Abnormality of the philtrum, Biparietal narrowing, Cleft pala... ORPHA:1770
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Ventricular septal defect, Hypertrophic cardiomyopathy OMIM:618775
Isolated Cleft Lip
Situs inversus totalis, Supernumerary maxillary incisor, Polyhydramnios, Non-midline cleft of the... ORPHA:199302
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Microphthalmia, Solitary median maxillary central incisor, Tooth malp... ORPHA:2712
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Microdontia, Cleft upper lip, Anodontia, Cleft palate, Hypodontia, C... OMIM:225060
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip... ORPHA:1387
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, High palate, Abnormality of the dentition, Wide mouth, Thick vermilion border ORPHA:363528
Au-Kline Syndrome
Plagiocephaly, Oligodontia, High palate, Lipomyelomeningocele, Downturned corners of mouth, Bifid... OMIM:616580
Heart And Brain Malformation Syndrome
High, narrow palate, Polyhydramnios, Thick lower lip vermilion, Microphthalmia, Limb hypertonia, ... OMIM:616920
Joubert Syndrome 15
Exencephaly OMIM:614464
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Cleft soft palate, Facial hypotonia, Smooth philtrum, Atrial septal defect OMIM:614526
Cofs Syndrome
Camptodactyly of finger, Microphthalmia, Arthrogryposis multiplex congenita, Everted lower lip ve... ORPHA:1466
Hennekam Syndrome
Supernumerary tooth, Hydrops fetalis, Short philtrum, Delayed eruption of teeth, Chylothorax, Gin... ORPHA:2136
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Anencephaly OMIM:614120
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth OMIM:217150
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Aganglionic megacolon, Turricephaly, Short philtrum, Hydrocephalus, Frontal bossing OMIM:613603
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Monosomy 18P
Microphthalmia, Short philtrum, Tooth malposition, Lymphedema, Carious teeth, Downturned corners ... ORPHA:1598
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Cleft palate, Smooth philtrum, Irregular dentition OMIM:615656
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Encephalocele, Conical tooth, Abnormality of the dentition, Coronal craniosynostos... ORPHA:228390
Naxos Disease
Cleft upper lip ORPHA:34217
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Short philtrum, Narrow mouth, Wide mouth, Thick vermilion border, Umbilical hernia... OMIM:615834
Orofaciodigital Syndrome I
Supernumerary tooth, Hydrocephalus, High palate, Ankyloglossia, Agenesis of permanent teeth, Myel... OMIM:311200
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, High, narrow palate, High palate, Downturned corners of mouth, Long philtrum OMIM:608027
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Non-... ORPHA:1335
Blepharonasofacial Malformation Syndrome
Long philtrum, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1252
Nanophthalmos 4
Microphthalmia OMIM:615972
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Exercise-induced rhabdomyolysis... ORPHA:26793
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Branchial anomaly, Oligodontia, High palate, Furrowed tongue, Downturned corners o... ORPHA:453499
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Microdontia, Anterior plagiocephaly... OMIM:619718
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly ORPHA:96190
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pleural effusion, Pulmonary edema, Pedal edema ORPHA:199241
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Oligodontia, High palate, Frontal bossing, Cleft palate, Umbilical hernia OMIM:600325
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericarditis, Pericardial effusion, Nonimmune hydrops fetalis, Flexion contractur... OMIM:212065
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal oral frenulum morphology, Downturned corners of mouth, Abnormal heart mo... ORPHA:404440
Spondylo-Ocular Syndrome
Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Facial hypotonia, Long phi... ORPHA:85194
Diaphanospondylodysostosis
Cleft palate, Myelomeningocele ORPHA:66637
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, High palate, Tented upper lip vermilion, Umbilical hernia OMIM:616025
Arthrogryposis And Ectodermal Dysplasia
Brachycephaly, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Cleft upper lip, ... OMIM:601701
Treacher-Collins Syndrome
Tessier cleft, Brachycephaly, Rectovaginal fistula, Encephalocele, Abnormal dental enamel morphol... ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Dental crowding, Downturned corners of mouth, Smooth philtrum, Long philtrum, Thin... OMIM:615761
Saethre-Chotzen Syndrome
Narrow palate, Brachycephaly, Plagiocephaly, Open bite, Cleft palate, Craniosynostosis ORPHA:794
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Orbital encephalocele, Anophthalmia OMIM:164180
Aicardi-Goutieres Syndrome 9
Ascites, Pericarditis, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy,... OMIM:619487
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Cleft palate, Encephalocele OMIM:217100
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Cranial asymmetry, Thin upper lip vermilion ORPHA:137634
Acropectorovertebral Dysplasia
High, narrow palate, Cleft palate, Spina bifida ORPHA:957
Branchio-Oculo-Facial Syndrome
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi... ORPHA:1297
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bilateral cleft lip, Bifid uvula, Tented upper lip vermili... OMIM:618622
Alg9-Cdg
Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph... ORPHA:79328
16P13.11 Microdeletion Syndrome
Exaggerated cupid's bow, Cleft upper lip, Cleft palate, Wide mouth, Holoprosencephaly, Smooth phi... ORPHA:261236
Anauxetic Dysplasia 3
Plagiocephaly, Oligodontia OMIM:618853
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Cleft upper lip, Abnormality of the dentition OMIM:273400
Orofaciodigital Syndrome Xvii
High, narrow palate, Median cleft upper lip OMIM:617926
Fibrochondrogenesis
Plagiocephaly, Cleft palate, Narrow mouth ORPHA:2021
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, High, narrow palate, Dolichocephaly, Umbilical hernia, Long philtrum ORPHA:1101
Myhre Syndrome
Microphthalmia, Short philtrum, Skeletal muscle hypertrophy, Narrow mouth, Camptodactyly, Aortic ... OMIM:139210
Cerebrofaciothoracic Dysplasia
Brachycephaly, Cleft upper lip, Cleft palate, Wide mouth, Broad philtrum ORPHA:1394
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Microphthalmia, Delayed eruption of teeth, Elbow flexion contracture, Dehy... OMIM:214150
Joubert Syndrome 14
Microphthalmia, Short philtrum, Encephalocele, Hydrocephalus, Meningocele, Cleft palate, Tented u... OMIM:614424
Trisomy 9P
Brachycephaly, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth, ... ORPHA:236
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Brachycephaly, Plagiocephaly, Widely spaced teeth, Thick lower lip vermilion, Short philtrum, Del... OMIM:280000
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly, Thin upper lip vermilion, Smooth philtrum OMIM:620688
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Non-midline cleft of the u... ORPHA:2549
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly, Short philtrum, High palate, Wide mouth OMIM:620224
German Syndrome
Brachycephaly, Orofacial cleft, High palate, Everted lower lip vermilion, Dolichocephaly, Open mouth ORPHA:2077
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pleural effusion, Ascites, Pericardial effusion, Anasarca OMIM:618183
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Unilateral cleft lip, Brachycephaly ORPHA:2511
Frontofacionasal Dysplasia
Brachycephaly, Orofacial cleft, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Cra... OMIM:229400
Cornelia De Lange Syndrome 2
Brachycephaly, High palate, Downturned corners of mouth, Smooth philtrum, Thin upper lip vermilion OMIM:300590
Distal Deletion 10P
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Anal atresia ORPHA:1580
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Abnormal palate morphology, Turricephaly, Hydrocephalus, Frontal bossing ORPHA:93262
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Widely spaced teeth, Microdontia, Premature loss of primary teeth, Frontal bossing OMIM:617364
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate, Tooth agenesis ORPHA:1135
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Frontal bossing, Cleft palate, Deep philtrum OMIM:206920
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate, Prominent occiput OMIM:619122
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Exaggerated cupid's bow, Narrow mouth, Spina bifida, Frontal bossing, Bifid uvula,... OMIM:619480
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Dental crowding, High palate, Frontal bossing, Dolichocephaly, Thick vermilion border OMIM:619005
Intellectual Developmental Disorder, X-Linked 1
Brachycephaly OMIM:309530
Holoprosencephaly 14
Aqueductal stenosis, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Frontal bossing, Cleft p... OMIM:619895
Rapp-Hodgkin Syndrome
Conical tooth, Narrow mouth, Microdontia, Carious teeth, Enamel hypoplasia, Bifid uvula, Cleft pa... OMIM:129400
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Brachycephaly, Dental crowding ORPHA:320385
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Cleft palate, Hydranencephaly OMIM:601355
Kapur-Toriello Syndrome
Microphthalmia, Cleft upper lip, Camptodactyly of finger, Cleft palate, Atrial septal defect, Ven... OMIM:244300
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Long philtrum, Plagiocephaly, High palate, Smooth philtrum OMIM:300749
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly, Tented upper lip vermilion, Smooth philtrum OMIM:620240
7Q31 Microdeletion Syndrome
Long philtrum, Plagiocephaly, Wide mouth ORPHA:251061
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Flat occiput, Encephalocele, Long philtrum, Exencephaly ORPHA:2211
3P25.3 Microdeletion Syndrome
High, narrow palate, Microphthalmia, Short philtrum, Pulmonic stenosis, Downturned corners of mou... ORPHA:435638
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Tooth malposition, Periodontitis, Premature loss of teeth, High palate, Umbilical ... ORPHA:536532
Hartsfield Syndrome
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hypoplasia of the frontal bone, Lobar holo... OMIM:615465
Popliteal Pterygium Syndrome
Spina bifida occulta, Cleft upper lip, Bifid uvula, Cleft palate, Fibrous syngnathia, Lower lip pit OMIM:119500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly, Downturned corners of mouth, Smooth philtrum, Long philtrum, Thin upper lip vermilion OMIM:618548
Aymé-Gripp Syndrome
Brachycephaly, Plagiocephaly, Hydrocephalus, Oligodontia, Narrow mouth, Cleft palate, Long philtr... ORPHA:1272
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate ORPHA:96181
Orofaciodigital Syndrome Ii
Hydrocephalus, High palate, Agenesis of central incisor, Cleft palate, Lobulated tongue, Accessor... OMIM:252100
Stevenson-Carey Syndrome
Microphthalmia, Narrow mouth, Camptodactyly, Downturned corners of mouth, Pierre-Robin sequence, ... OMIM:611961
Cornelia De Lange Syndrome 5
Brachycephaly, Thin vermilion border, Widely spaced teeth, High palate, Downturned corners of mou... OMIM:300882
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Brachycephaly, Aqueductal stenosis, Plagiocephaly, Short philtrum, Hydrocephalus, Exaggerated cup... OMIM:619512
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, Plagiocephaly, Steatorrhea, Widely spaced teeth, Dental crowding, High palate, Mic... OMIM:618268
Crouzon Syndrome
Narrow palate, Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Fron... ORPHA:207
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Thin vermilion border, Turricephaly, Hydrocephalus, Umbilical hernia, Long philtru... ORPHA:171839
Fryns Syndrome
Congenital diaphragmatic hernia, Microphthalmia, Polyhydramnios, Non-midline cleft of the upper l... ORPHA:2059
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput OMIM:618736
Neurofaciodigitorenal Syndrome
Brachycephaly, Plagiocephaly, Abnormality of the philtrum, Abnormal oral mucosa morphology ORPHA:2673
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Flat occiput, Normal pressure hydrocephalus, High palate, Plagiocephaly ORPHA:300570
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly, High palate, Glossoptosis, Pierre-Robin sequence, Cleft palate, Microglossia OMIM:254940
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Brachycephaly, Dental crowding OMIM:615031
9Q33.3Q34.11 Microdeletion Syndrome
Tented philtrum, Thin vermilion border, Brachycephaly, Plagiocephaly, Narrow mouth, Esophagitis ORPHA:495818
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Craniosynostosis, Cleft palate, Turricephaly ORPHA:2145
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Frontal boss... ORPHA:2780
Acrofrontofacionasal Dysostosis 1
Brachycephaly, Oligodontia, Cleft upper lip, Cleft palate, Wide mouth OMIM:201180
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Thin vermilion border, Flat occiput, High palate, Anal atresia, Trigonocephaly, Do... OMIM:613792
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal... ORPHA:3253
Joubert Syndrome 1
Plagiocephaly, Protruding tongue, Occipital myelomeningocele, Triangular-shaped open mouth, Macro... OMIM:213300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Thick lower lip vermilion, Lymphedema, Long philtrum, Deep philtrum, Thin upper l... OMIM:152950
Poems Syndrome
Edema, Pericardial effusion, Pleural effusion, Ascites ORPHA:2905
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Muscular dystrophy, Hydrocephalus, Optic nerve hypoplasi... ORPHA:370959
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Atelosteogenesis Type Ii
Plagiocephaly, Bilateral cleft palate, Cleft palate, Long philtrum, Thin upper lip vermilion ORPHA:56304
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Muscular dystrophy, Microphthalmia, Left ventricular hypertrophy OMIM:613153
Gapo Syndrome
Plagiocephaly, High, narrow palate, Thick lower lip vermilion, Eruption failure, Frontal bossing,... OMIM:230740
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Emanuel Syndrome
Congenital diaphragmatic hernia, Multiple joint contractures, Tooth malposition, Hydrocephalus, D... ORPHA:96170
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia, Narrow mouth, Flexion contracture OMIM:614833
Baraitser-Winter Syndrome 2
Orofacial cleft, Microphthalmia, Wide mouth, Long philtrum, Thin upper lip vermilion OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Microphthalmia, Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, Co... OMIM:613150
3Mc Syndrome 2
High palate, Cleft upper lip, Downturned corners of mouth, Cleft palate, Broad philtrum, Craniosy... OMIM:265050
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly, Microdontia OMIM:261990
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Dental crowding, Narrow mouth, High palate, Frontal bossing, Long philtrum OMIM:615539
Lujan-Fryns Syndrome
Brachycephaly, Short philtrum, Dental crowding, High palate, Abnormality of the dentition ORPHA:776
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly, Wide mouth, Thin upper lip vermilion, Smooth philtrum OMIM:615419
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Hydrocephalus, Brachyturricephaly, Pyloric stenosis, Frontal bossing, Abnormal sha... OMIM:218350
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Enamel hypoplasia,... OMIM:618874
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Short lingual frenulum, High palate, Wide mouth, Craniosynostosis ORPHA:1521
Culler-Jones Syndrome
Cleft upper lip, Cleft palate OMIM:615849
Galloway-Mowat Syndrome 4
Plagiocephaly OMIM:617730
Braddock-Carey Syndrome 2
Microphthalmia, Pierre-Robin sequence, Wide mouth, Cleft palate OMIM:619981
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal hypertrophy, Oligodontia, Exaggerated cupid's bow, Long upper ... OMIM:608670
Bartsocas-Papas Syndrome
Cleft palate, Narrow mouth, Median cleft upper lip ORPHA:1234