Gene Summary

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

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 Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

2 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
Short philtrum, Downturned corners of mouth, Aganglionic megacolon, Tented upper lip vermilion, P... ORPHA:247262
Hyperphosphatasia With Mental Retardation Syndrome 3
Tented upper lip vermilion, Cleft palate OMIM:614207

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
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
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip ORPHA:401942
Telecanthus
Bilateral cleft lip and palate, Anodontia OMIM:187350
Syngnathia
Cleft palate OMIM:119550
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:300064
Orofacial Cleft 14
Median cleft lip OMIM:615892
Parietal Foramina 1
Parietal foramina, Symmetrical, oval parietal bone defects, Cleft upper lip, Cleft palate OMIM:168500
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Choanal Atresia And Lymphedema
Lymphedema, High palate, Pericardial effusion OMIM:613611
Mmep Syndrome
Oral cleft, Microphthalmia, Median cleft lip, Ventricular septal defect ORPHA:3434
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Thomas Syndrome
Dolichocephaly, Cleft upper lip, Cleft palate ORPHA:3316
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion, Midface retrusion, Plagiocephaly OMIM:617768
Mental Retardation, Autosomal Dominant 58
Dental crowding, Wide mouth, Thick vermilion border, Plagiocephaly, High palate OMIM:618106
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Dolichocephaly, Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, High pala... OMIM:615433
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Downturned corners of mouth, Plagiocephaly, Ectopic anus, Cleft palate ORPHA:94066
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Ectopic anus, Cleft palate ORPHA:2476
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Gonadal Dysgenesis, Xy Type, With Associated Anomalies
Oral cleft, Cleft upper lip, Abnormal heart morphology OMIM:233430
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Brachycephaly, Plagiocephaly ORPHA:2898
Isolated Plagiocephaly
Midface retrusion, Frontal bossing, Plagiocephaly ORPHA:35098
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Cleft palate OMIM:615656
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Edema, Microphthalmia, Cleft palate OMIM:616570
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Midface retrusion, Unilambdoid synostosis, Plagiocephaly, Brachycephaly, Broad phi... OMIM:618577
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Frontal bossing, Cleft palate OMIM:311895
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Trigonocephaly, Plagiocephaly, Cleft palate OMIM:618265
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly ORPHA:1665
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Deep philtrum, Intestinal malrotation, Plagiocephaly, Oral cleft ORPHA:77300
Orofaciodigital Syndrome V
Frontal bossing, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft... OMIM:174300
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing, Dental crowding OMIM:619264
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Intestinal malrotation, Flat occiput, Bilateral cleft lip and palate, ... OMIM:601165
Adenylosuccinate Lyase Deficiency
Long philtrum, Flat occiput, Smooth philtrum, Thin upper lip vermilion, Brachycephaly, Prominent ... ORPHA:46
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cleft palate OMIM:120433
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Cleft upper lip ORPHA:85287
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Cebalid Syndrome
Midface retrusion, Platystencephaly, Plagiocephaly, Brachycephaly, High palate, Dolichocephaly, T... OMIM:618774
Isolated Dandy-Walker Malformation
Platybasia, Prominent occiput, Frontal bossing, Cleft palate ORPHA:217
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225000
Developmental And Epileptic Encephalopathy 65
Tented upper lip vermilion, Plagiocephaly OMIM:618008
Craniosynostosis 6
Craniosynostosis, Plagiocephaly, Delayed cranial suture closure, Brachycephaly, Spina bifida occu... OMIM:616602
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Tooth malposition, Plagiocephaly, Brachycephaly, Cleft palate, High palate OMIM:618603
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Long philtrum, Pericardial effusion, Wide mouth, Thin upper lip vermilion, Upturned corners of mouth OMIM:614684
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Short philtrum, Umbilical hernia, Plagiocephaly OMIM:618354
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Muenke Syndrome
Plagiocephaly, Brachycephaly, Coronal craniosynostosis, High, narrow palate, Hydrocephalus ORPHA:53271
Cantu Syndrome
Long philtrum, Lymphedema, Pericardial effusion, Thick upper lip vermilion, Umbilical hernia, Con... OMIM:239850
Mental Retardation, Autosomal Dominant 36
Hydrocephalus, Open mouth, Tented upper lip vermilion, Plagiocephaly, Prominent metopic ridge OMIM:616362
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Short philtrum, Downturned corners of mouth, Midface retrusion, Plagiocephaly, Tooth agenesis, Ma... OMIM:618731
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Faciocardiorenal Syndrome
Narrow mouth, Smooth philtrum, Plagiocephaly, Hypodontia, Cleft palate ORPHA:1973
Acrofacial Dysostosis, Palagonia Type
Unilateral cleft lip, Oligodontia, Cleft upper lip, Spina bifida occulta at S1 OMIM:601829
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Narrow mouth, Ventricular septal defect, Microphthalmia ORPHA:3469
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Coffin-Siris Syndrome 6
Wormian bones, Short philtrum, Frontal bossing, Deep philtrum, Plagiocephaly, Cleft palate, High,... OMIM:617808
Mental Retardation, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Brachycephaly, Thick upper lip vermilion OMIM:309545
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Hydrops Fetalis
Polyhydramnios, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial effusion, As... ORPHA:1041
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Short philtrum, Downturned corners of mouth, Plagiocephaly, Prominent occiput, Brachycephaly, Dol... OMIM:618672
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Open mouth, Frontal bossing, Everted lower lip vermilion, Wide mouth, Plagiocephaly... OMIM:616789
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft upper lip, Cleft palate, Transpos... OMIM:231060
Muenke Syndrome
Midface retrusion, Plagiocephaly, Brachycephaly, Coronal craniosynostosis, High palate, Dental ma... OMIM:602849
6Q25 Microdeletion Syndrome
High palate, Long philtrum, Plagiocephaly, Cleft palate ORPHA:251056
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Bilateral microphthalmos, Oral cleft, Microphthalmia, Anophthalmia OMIM:611638
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Deep philtrum, Diastema, Plagiocephaly, Cleft palate, Microdontia OMIM:605282
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Pericardial effusion, Wide mouth, Edema, Ascites, Abnormal cardiac septum morphology OMIM:608776
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Plagiocephaly, Thin upper lip vermilion, Brachycephaly, High palate, Prominent metopic ridge OMIM:618862
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Wide anterior fontanel, Abnormality of dental morphology, Fron... ORPHA:85199
Acalvaria
Spina bifida, Calvarial skull defect, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Holoprosencephaly, Cleft upper lip, Cleft palate OMIM:612530
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long philtrum, Narrow mouth, Downturned corners of mouth, Everted lower lip vermilion, Plagiocephaly OMIM:618089
Microphthalmia, Syndromic 8
Oral cleft, Widely-spaced maxillary central incisors, Cleft upper lip, Cleft palate OMIM:601349
Lessel-Kreienkamp Syndrome
Open mouth, Frontal bossing, Plagiocephaly, Thin upper lip vermilion, Wide cranial sutures, Denta... OMIM:619149
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Frontal bossing, Agenesi... ORPHA:2919
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Familial Lambdoid Synostosis
Flat occiput, Hydrocephalus, Downturned corners of mouth, Plagiocephaly ORPHA:3267
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Cardiomegaly, Ventricular septal hypertrophy, Pulm... OMIM:115197
Mental Retardation, Autosomal Recessive 38
Narrow palate, Plagiocephaly OMIM:615516
Autosomal Recessive Amelia
Oral cleft, Abnormal cardiac septum morphology, Polyhydramnios, Non-midline cleft lip ORPHA:1027
Hartsfield Syndrome
Craniosynostosis, Non-midline cleft lip, Lobar holoprosencephaly, Cleft palate ORPHA:2117
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Non-midline cleft lip, Tooth agenesis ORPHA:1406
Craniofrontonasal Dysplasia
Craniosynostosis, Frontal bossing, Abnormality of the dentition, Plagiocephaly, Oral cleft, Brach... ORPHA:1520
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Downturned corners of mouth, Midface retrusion, Abnormal rectum morphology, Agang... OMIM:239300
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Blepharocheilodontic Syndrome 1
Hypodontia, Neural tube defect, Anal atresia, Cleft upper lip, Conical tooth OMIM:119580
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Downturned corners of mouth, Open mouth, Midface retrusion, Frontal bossing, Tented upper lip ver... OMIM:618430
Zechi-Ceide Syndrome
Midface retrusion, Oligodontia, Cleft upper lip, Cleft palate OMIM:612916
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Short philtrum, Open mouth, Frontal bossing, Smooth philtrum, Plagiocephaly, Thin upper lip vermi... OMIM:616801
Phenobarbital Embryopathy
Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Mental Retardation, Autosomal Recessive 13
Short philtrum, Cleft upper lip, Smooth philtrum, Downturned corners of mouth OMIM:613192
Mental Retardation, Autosomal Dominant 29
Narrow palate, Dental crowding, Thin upper lip vermilion, Brachycephaly, High palate OMIM:616078
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Muscular Dystrophy, Fukuyama Type
Dolichocephaly, Brachycephaly, Hydrocephalus, Plagiocephaly ORPHA:272
Osteogenesis Imperfecta, Type Xx
Wormian bones, Narrow palate, Agenesis of permanent teeth, Midface retrusion, Tented upper lip ve... OMIM:618644
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Spondyloepiphyseal Dysplasia, Nishimura Type
Long philtrum, Wide anterior fontanel, Downturned corners of mouth, Anterior plagiocephaly, Front... ORPHA:163649
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Microphthalmia, Anophthalmia OMIM:221950
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate, Microphthalmia, Anophthalmia OMIM:600776
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Narrow palate, Plagiocephaly OMIM:617481
Craniosynostosis 4
Posterior plagiocephaly, Pansynostosis, Lambdoidal craniosynostosis, Frontal bossing, Anterior pl... OMIM:600775
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Tracheoesophageal fi... ORPHA:63862
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Tooth agenesis, Plagiocephaly, Anal atresia, Crowded m... ORPHA:2063
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Plagiocephaly, Cleft palate ORPHA:85284
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Craniofacial hyperostosis, Prominent occiput, Non-midline cleft lip, Cleft palate ORPHA:2725
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Hyperphosphatasia With Mental Retardation Syndrome 2
Anal stenosis, Anterior plagiocephaly, Aganglionic megacolon, Tented upper lip vermilion, Plagioc... OMIM:614749
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Cleft palate OMIM:601016
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Anophthalmia, Microphthalmia, Congenital diap... OMIM:615524
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Gómez-López-Hernández Syndrome
Thin vermilion border, Midface retrusion, Brachycephaly, Hydrocephalus, Turricephaly ORPHA:1532
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Anodontia, Hypodontia, Cleft upper lip, Cleft palate, Microdontia OMIM:225060
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Hypomimic face, Ventri... OMIM:608572
Hemifacial Microsomia With Radial Defects
Oral cleft, Cleft palate, Non-midline cleft lip, Short mandibular rami OMIM:141400
Rhizomelic Limb Shortening With Dysmorphic Features
Long philtrum, Smooth philtrum, Plagiocephaly OMIM:618821
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft upper lip, Cleft palate ORPHA:398189
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Cleft upper lip, Cleft palate, Brachyturricephaly, High, narrow palate OMIM:607597
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Bilateral cleft lip and palate, Cleft upper lip, Ventricular septal defect OMIM:601357
Faciothoracogenital Syndrome
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia OMIM:227320
Summitt Syndrome
Craniosynostosis, Prominent metopic ridge, Plagiocephaly ORPHA:3210
Intellectual Developmental Disorder, Autosomal Dominant 64
Short philtrum, Smooth philtrum, Plagiocephaly, Thin upper lip vermilion, High palate, Prominent ... OMIM:619188
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Brachycephaly, Cleft upper lip, Cleft palate OMIM:300958
Nanophthalmos 4
Microphthalmia OMIM:615972
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Dextrocardia, Congenital diaphragmatic hernia, Cleft upper lip, Cleft... OMIM:614294
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip OMIM:142946
Malan Overgrowth Syndrome
Narrow mouth, Frontal bossing, Plagiocephaly, High palate, Scaphocephaly ORPHA:420179
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Short philtrum, Drooling, Frontal bossing, Wide mouth, Plagiocephaly, Thin upp... OMIM:619293
Meckel Syndrome, Type 8
Cleft palate, Microphthalmia, Cleft upper lip, Anophthalmia OMIM:613885
Distal Monosomy 7Q36
Holoprosencephaly, Abnormality of calvarial morphology, Wide mouth, Non-midline cleft lip, Cleft ... ORPHA:1636
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Large fontanelles, Midface retrusion, Natal tooth, Wide mouth, P... OMIM:259775
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Cleft ... OMIM:612561
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Downturned corners of mouth, Open mouth, Midface retrusion, Wide mouth, Umbilical h... ORPHA:369891
Adducted Thumbs Syndrome
Craniosynostosis, Cleft palate, High palate, High, narrow palate, Velopharyngeal insufficiency OMIM:201550
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Intellectual Disability, Wolff Type
Oral cleft, Abnormal intestine morphology, Thick lower lip vermilion, Non-midline cleft lip ORPHA:3080
Anophthalmia Plus Syndrome
Spina bifida, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate ORPHA:1104
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Orofaciodigital Syndrome Viii
High palate, Median cleft lip, Cleft palate OMIM:300484
Carey-Fineman-Ziter Syndrome
Pierre-Robin sequence, Plagiocephaly, Microglossia, Glossoptosis, Cleft palate OMIM:254940
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip, Ventricular septal defect OMIM:214300
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Long philtrum, Narrow mouth, Plagiocephaly OMIM:613457
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Keratoconus Posticus Circumscriptus
Cleft upper lip, Cleft palate OMIM:244600
Meckel Syndrome, Type 5
Cleft upper lip, Anencephaly, Cleft palate OMIM:611561
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Midface retrusion, Cleft palate OMIM:184840
Trisomy 20P
Spina bifida, Thin vermilion border, Short philtrum, Downturned corners of mouth, Frontal bossing... ORPHA:261318
Triploidy
Polyhydramnios, Macroglossia, Narrow mouth, Holoprosencephaly, Wide mouth, Non-midline cleft lip,... ORPHA:3376
Pallister-Hall-Like Syndrome
Abnormal heart morphology, Microglossia, Cleft palate, Hydrocephalus, Median cleft lip OMIM:241800
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, High palate, Cleft upper lip, Cleft palate OMIM:602418
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Dystonia, Juvenile-Onset
Cleft upper lip, Cleft palate OMIM:607371
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Oligodontia, Atrial septal defect, Narrow palate, Narrow mouth, Ventri... OMIM:235510
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Wide anterior fontanel, Frontal bossing, Midface retrusion, Plagiocephaly, Thin up... ORPHA:457279
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agenesis ORPHA:2003
Fg Syndrome Type 1
Long philtrum, Craniosynostosis, Drooling, Open mouth, Dental crowding, Wide mouth, Umbilical her... ORPHA:93932
Humeroradial Synostosis With Craniofacial Anomalies
Brachycephaly, Frontal bossing, Plagiocephaly OMIM:236410
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Kleefstra Syndrome Due To A Point Mutation
Midface retrusion, Natal tooth, Abnormality of the dentition, Umbilical hernia, Plagiocephaly, An... ORPHA:261652
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Flexion contracture, Hypoplastic heart, Edema, Cleft upper lip, Cleft palate, Amy... OMIM:312150
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Tented upper lip vermilion, Cleft upper lip, Cle... OMIM:600987
Opitz Gbbb Syndrome, Type I
Frontal bossing, Smooth philtrum, Thin upper lip vermilion, Anal atresia, Cleft upper lip, Cleft ... OMIM:300000
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Opitz-Kaveggia Syndrome
Long philtrum, Delayed closure of the anterior fontanelle, Narrow palate, Wide anterior fontanel,... OMIM:305450
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Camptodactyly, Median cleft palate, Microphthalmia, Joint con... OMIM:136760
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect, Microphthalmia, Cleft palate ORPHA:261272
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Trigonocephaly, Cleft palate ORPHA:1779
Mental Retardation, Autosomal Dominant 13
Plagiocephaly OMIM:614563
Acrofrontofacionasal Dysostosis
Midface retrusion, Everted lower lip vermilion, Non-midline cleft lip, Brachycephaly, Cleft palat... ORPHA:1784
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Craniosynostosis, Brachycephaly, Plagiocephaly ORPHA:2163
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Hydrolethalus
Polyhydramnios, Arrhinencephaly, Anencephaly, Gingival cleft, Unilateral cleft lip, Cleft palate,... ORPHA:2189
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Craniosynostosis, Frontal bossing, Thin upper lip vermilion, Brachycephaly, High palate, Pyloric ... ORPHA:314575
Short Stature And Facioauriculothoracic Malformations
Cleft palate, High palate, Cleft upper lip, Ventricular septal defect OMIM:609654
Noonan Syndrome 13
Long philtrum, Prominent metopic ridge, Wide mouth, Plagiocephaly, U-Shaped upper lip vermilion, ... OMIM:619087
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short philtrum, Frontal bossing, Smooth philtrum, Tented upper lip vermilion, Plagiocephaly, Thin... ORPHA:371364
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly, Umbilical hernia, Dextrocardia, Cleft palate, Glossopto... OMIM:616145
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Multiple Pterygium-Malignant Hyperthermia Syndrome
Long philtrum, Narrow mouth, Downturned corners of mouth, Prominent metopic ridge, Midface retrus... ORPHA:2215
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Brachycephaly, Spina bifida occulta, Cleft palate OMIM:268850
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Lymphedema, Predominantly lower limb lymphedema, Cleft upper lip, Clef... OMIM:153400
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Oral cleft, Congenital muscular dystrophy, Microphthalmia, Hydrocephalus ORPHA:324416
Hyperphosphatasia-Intellectual Disability Syndrome
Short philtrum, Downturned corners of mouth, Aganglionic megacolon, Tented upper lip vermilion, P... ORPHA:247262
Triopia
Frontal bossing, Abnormality of the fontanelles or cranial sutures, Cleft palate, Dolichocephaly,... ORPHA:3374
Orofacial Cleft 15
Agenesis of lateral incisor, Midface retrusion, Palate fistula, Bilateral cleft palate, Bilateral... OMIM:616788
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal dental enamel morphology, Plagiocephaly, Hypodontia, Cleft palate, Macrodontia ORPHA:2916
Fetal Alcohol Syndrome
Atrial septal defect, Smooth philtrum, Non-midline cleft lip, Thin upper lip vermilion, Congenita... ORPHA:1915
Trisomy 13
Long philtrum, Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Aplasia/Hypoplas... ORPHA:3378
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Long philtrum, Flat occiput, Thick vermilion border, Tented upper lip vermilion, Plagiocephaly, D... OMIM:619383
Pentasomy X
Plagiocephaly ORPHA:11
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly ORPHA:1143
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Craniosynostosis, Downturned corners of mouth, Intestinal malrotation, Plagiocephaly, Thin upper ... ORPHA:457193
Baraitser-Winter Syndrome 1
Long philtrum, Wide mouth, Oral cleft, Thin upper lip vermilion, Aortic valve stenosis, Microphth... OMIM:243310
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome
Frontal bossing, Deep philtrum, Tented upper lip vermilion ORPHA:2104
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Downturned corners of mouth, Parietal foramina, Brachycephaly, Tur... OMIM:601224
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Plagiocephaly, Duodenal atresia, Spina bifida occulta, Tracheoesophageal fist... OMIM:619227
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Median cleft lip, Cleft palate ORPHA:2165
Crouzon Syndrome With Acanthosis Nigricans
Midface retrusion, Craniosynostosis, Brachycephaly, Hydrocephalus OMIM:612247
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Narrow mouth, Abnormal heart morphology, Cleft upper lip, Cleft palate OMIM:239800
Dihydropyrimidinase Deficiency
Anal atresia, Plagiocephaly OMIM:222748
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Aica-Ribosiduria
Thin upper lip vermilion, Brachycephaly, Wide mouth ORPHA:250977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Microphthalmia, Hydrocephalus OMIM:614830
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Trisomy 8Q
Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid tongue, Cleft palate, Abnor... ORPHA:1752
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pericardial effusion, Fetal ascites, Myocardit... ORPHA:292
Isolated Cleft Lip
Polyhydramnios, Situs inversus totalis, Non-midline cleft lip, Umbilical hernia, Hypodontia, Supe... ORPHA:199302
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Smooth philtrum, Microphthalmia, Hydrocephalus, Ventricular septal defect OMIM:602501
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Long philtrum, Thin vermilion border, Delayed closure of the anterior fontanelle, Downturned corn... OMIM:610759
Developmental And Epileptic Encephalopathy 84
Thick lower lip vermilion, Smooth philtrum, Plagiocephaly OMIM:618792
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostos... OMIM:614188
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:915
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Enlarged Parietal Foramina
Craniosynostosis, Symmetrical, oval parietal bone defects, Cleft lip, Cleft palate, Myelomeningocele ORPHA:60015
Alkuraya-Kucinskas Syndrome
Arthrogryposis multiplex congenita, Pericardial effusion, Camptodactyly, Edema, High palate, Hydr... OMIM:617822
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Cleft palate OMIM:244200
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Short mandibular rami, Wide mouth, Non-midline cleft lip, Oral clef... ORPHA:2549
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Acromelic Frontonasal Dysostosis
U-Shaped upper lip vermilion, Brachycephaly, Cleft upper lip, Cleft palate OMIM:603671
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Microphthalmia, Cleft palate, Abnormal oral frenulum mor... ORPHA:1617
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Smooth philtrum, Ca... OMIM:618652
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Orofaciodigital Syndrome Vi
Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum OMIM:277170
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Isotretinoin Syndrome
Biparietal narrowing, Spina bifida occulta, Cleft palate ORPHA:2305
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Vertebral Hypersegmentation And Orofacial Anomalies
Midface retrusion, Unilateral cleft lip, Prominent occiput, Unilateral cleft palate, Submucous cl... OMIM:619122
Congenital Toxoplasmosis
Cardiomegaly, Ascites, Microphthalmia, Hydrocephalus ORPHA:858
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia ORPHA:2528
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large fontanelles, Flat occiput, Unilateral cleft lip, Delayed cranial suture closure, Brachycephaly ORPHA:2511
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Biparietal narrowing, Abnormality of the philtrum, Non-midline cleft lip, Umbilical hernia, Cleft... ORPHA:1770
Anauxetic Dysplasia 3
Midface retrusion, Oligodontia, Wide anterior fontanel, Plagiocephaly OMIM:618853
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, No... ORPHA:1335
Pierpont Syndrome
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Thin upper l... ORPHA:487825
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Torus palatinus, Solitary median maxillary central incisor, Microphthalmia, Cl... OMIM:147250
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pericardial effusion ORPHA:411703
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Ascites, Angioedema ORPHA:36412
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Umbilical hernia, Open mouth ORPHA:500159
Tetraamelia Syndrome 2
Ankyloglossia, Bilateral cleft lip, Glossoptosis, Ventricular septal defect OMIM:618021
Culler-Jones Syndrome
Midface retrusion, Cleft upper lip, Cleft palate OMIM:615849
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, ... OMIM:264480
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Holoprosencephaly 11
Holoprosencephaly, Cleft lip, Cleft palate OMIM:614226
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Short philtrum, Frontal bossing, Wide mouth, Thick vermilion border, Plagiocephaly, Brachycephaly... OMIM:280000
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Aymé-Gripp Syndrome
Long philtrum, Oligodontia, Craniosynostosis, Narrow mouth, Large fontanelles, Prominent metopic ... ORPHA:1272
Waardenburg Syndrome Type 1
Spina bifida, Aganglionic megacolon, Tented upper lip vermilion, Meningocele, Cleft upper lip, Cl... ORPHA:894
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Midface retrusion, Cleft palate, High palate, Tooth agenesis ORPHA:1135
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Midface retrusion, Unilateral cleft lip, Supernumerary tooth, Spina bifida occulta, ... ORPHA:1787
Fibrochondrogenesis
Wide anterior fontanel, Narrow mouth, Plagiocephaly, Cleft palate ORPHA:2021
Naxos Disease
Cleft upper lip, Cardiomyopathy ORPHA:34217
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft palate, Cleft upper lip, Tooth agenesis OMIM:147950
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip OMIM:216100
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Microphthalmia, Cleft ... OMIM:611134
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Blepharonasofacial Malformation Syndrome
Long philtrum, Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1252
Saethre-Chotzen Syndrome
Open bite, Craniosynostosis, Narrow palate, Plagiocephaly, Delayed cranial suture closure, Brachy... ORPHA:794
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Downturned corners of mouth, Dental crowding, Midface retrusion, Steatorrhea, Plagi... OMIM:618268
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion, Stomatitis OMIM:613011
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Microphthalmia, Downturned corners of mouth, Ventricular septal defect ORPHA:93267
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Holoprosencephaly, Wide... ORPHA:261236
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Pleural effusion, Pericardial effusion, Edema, Ascites, Myositis ORPHA:93552
Microphthalmia With Limb Anomalies
Frontal bossing, Deep philtrum, Cleft upper lip, Cleft palate, High palate OMIM:206920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Macroglossia, Craniosynostosis, Downturned corners of mouth, Branchial anomaly, Open... ORPHA:453499
Faciocardiorenal Syndrome
Hypoplastic philtrum, Plagiocephaly, Hypodontia, Cleft palate OMIM:227280
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Thin vermilion border, Arthrogryposis multiplex congenita, Camptodactyly, Micropht... OMIM:214150
Orofaciodigital Syndrome Xvii
High, narrow palate, Prominent metopic ridge, Median cleft lip OMIM:617926
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Downturned corners of mouth, Lymphedema, Holopr... ORPHA:1598
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Pericardial effusion, Abnormal myocardium morphology, Muscular dystrophy ORPHA:300751
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Fused teeth, Delayed eruption of teeth, Tooth malposition, Abnormal p... ORPHA:2712
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Trisomy 9P
Impacted tooth, Downturned corners of mouth, Dental crowding, Non-midline cleft lip, Brachycephaly ORPHA:236
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Facial hypotonia, Smooth philtrum, Microphthalmia, Cleft soft palate OMIM:614526
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Atrial septal defect, Truncus arteriosus, Tooth malposi... ORPHA:96170
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Cleft palate, High palate, Median cleft lip, Accessory oral frenulum OMIM:258865
Pierpont Syndrome
Thin vermilion border, Everted lower lip vermilion, Long upper lip, Smooth philtrum, Microphthalm... OMIM:602342
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Ascites, Abnormal myocardium morphology, Gingival bleeding ORPHA:77259
Distal Monosomy 10P
Ectopic anus, Anal atresia, Non-midline cleft lip, Cleft palate ORPHA:1580
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Abnormality of dental morphology, Dental crowding, Midface retrusion, Frontal bossi... OMIM:612582
Kapur-Toriello Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Microphthalmia, Cleft u... OMIM:244300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:618775
Robinow-Sorauf Syndrome
Plagiocephaly OMIM:180750
Nanophthalmos
Microphthalmia ORPHA:35612
Mohr Syndrome
Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue... OMIM:252100
Hennekam Syndrome
Delayed eruption of teeth, Short philtrum, Hydrops fetalis, Camptodactyly of finger, Narrow mouth... ORPHA:2136
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy OMIM:619053
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Edema, Dilated cardiomyopathy, Tooth agenesis OMIM:605676
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Spondylo-Ocular Syndrome
Long philtrum, Thin vermilion border, Facial hypotonia, Ventricular septal defect, Microphthalmia... ORPHA:85194
Joubert Syndrome 1
Macroglossia, Plagiocephaly, Protruding tongue, Triangular-shaped open mouth, Occipital myelomeni... OMIM:213300
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Flexion contracture... OMIM:616897
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate OMIM:601076
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Long philtrum, Dolichocephaly, Umbilical hernia, Plagiocephaly, High, narrow palate ORPHA:1101
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Deep philtrum, Smooth philtrum, Tented upper lip vermilion... OMIM:618622
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Long philtrum, Wide anterior fontanel, Downturned corners of mouth, Smooth philtrum, Plagiocephal... OMIM:618548
Cofs Syndrome
Camptodactyly of finger, Everted lower lip vermilion, Arthrogryposis multiplex congenita, Microph... ORPHA:1466
Frontofacionasal Dysplasia
Midface retrusion, Brachycephaly, Non-midline cleft lip, Cleft palate ORPHA:1791
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Thoracoabdominal Syndrome
Anencephaly, Ectopia cordis, Congenital diaphragmatic hernia, Cleft upper lip, Cleft palate, Hydr... OMIM:313850
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Acute Interstitial Pneumonia
Pleural effusion, Pericardial effusion, Peripheral edema ORPHA:79126
Branchio-Oculo-Facial Syndrome
Everted lower lip vermilion, Deep philtrum, Dolichocephaly, Upper lip pit, Non-midline cleft lip,... ORPHA:1297
Heart And Brain Malformation Syndrome
Polyhydramnios, Camptodactyly of finger, Ventricular septal defect, Everted lower lip vermilion, ... OMIM:616920
Genitopalatocardiac Syndrome
Downturned corners of mouth, Non-midline cleft lip, Congenital diaphragmatic hernia, Cleft palate... ORPHA:2075
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Flat occiput, Plagiocephaly, High palate, Impaired mastication ORPHA:300570
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Acromelic Frontonasal Dysplasia
Large fontanelles, Wide mouth, Meningocele, Median cleft palate, Brachycephaly, Median cleft lip ORPHA:1827
Cranioectodermal Dysplasia 2
Craniosynostosis, Frontal bossing, Midface retrusion, Everted lower lip vermilion, Dolichocephaly... OMIM:613610
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Decreased muscle mass, Bilateral microphthalmos OMIM:608763
Cerebrofaciothoracic Dysplasia
Midface retrusion, Wide mouth, Brachycephaly, Cleft upper lip, Cleft palate, Broad philtrum ORPHA:1394
Chromosome 18Q Deletion Syndrome
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Umb... OMIM:601808
Smith-Magenis Syndrome
Short philtrum, Delayed eruption of primary teeth, Taurodontia, Open mouth, Midface retrusion, Fr... ORPHA:819
9Q33.3Q34.11 Microdeletion Syndrome
Esophagitis, Thin vermilion border, Tented philtrum, Narrow mouth, Plagiocephaly, Brachycephaly, ... ORPHA:495818
Atelosteogenesis Type Ii
Long philtrum, Midface retrusion, Plagiocephaly, Thin upper lip vermilion, Cleft palate, Bilatera... ORPHA:56304
Fryns Syndrome
Polyhydramnios, Long philtrum, Wide mouth, Non-midline cleft lip, Tented upper lip vermilion, Tet... ORPHA:2059
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Wide mouth, Plagiocephaly, Short lingual frenulum, High palate ORPHA:1521
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Alobar holoprosencephaly, Solitary median... OMIM:301043
Intellectual Disability-Strabismus Syndrome
Wide mouth, Thick vermilion border, Plagiocephaly, Abnormality of the dentition, High palate ORPHA:363528
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Frontal bossing, Dental crowding, Thick vermilion border, Plagiocephaly, High palate, Dolichocephaly OMIM:619005
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormality of the dentition, Cleft palate, Aplasia/Hypoplasia affecting... ORPHA:1794
Acropectorovertebral Dysplasia
Spina bifida, High, narrow palate, Cleft palate ORPHA:957
Pulmonary Capillary Hemangiomatosis
Pleural effusion, Pericardial effusion, Pedal edema, Pulmonary edema ORPHA:199241
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of dental morphology, Midface retru... ORPHA:3253
Myhre Syndrome
Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Skeletal muscle hy... OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Microphthalmia, Hydrocephalus OMIM:613153
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Ex... ORPHA:26793
Arthrogryposis And Ectodermal Dysplasia
Oligodontia, Abnormal dental enamel morphology, Oral cleft, Brachycephaly, Cleft upper lip, Cleft... OMIM:601701
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Frontal bossing, Hydrocephalus, Midface retrusion, Coronal craniosynost... OMIM:112240
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Flexion contracture, Thin upper lip vermilion, Nonimmune hydrops fetalis, C... OMIM:212065
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Pleural effusion, Pericardial effusion, Ascites OMIM:618183
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Exencephaly, Large fontanelles, Flat occiput, Delayed cranial suture closure, Brac... ORPHA:2211
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Widely spaced teeth, Frontal bossing, Plagiocephaly OMIM:617193
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly ORPHA:96190
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Cleft palate ORPHA:3429
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Tooth malposition, Pericardial effusion, High palate, Long uvula, Periodontitis, U... ORPHA:536532
Recombinant 8 Syndrome
Camptodactyly of finger, Atrial septal defect, Downturned corners of mouth, Ventricular septal de... ORPHA:96167
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Everted lower lip vermilion, Plagiocephaly OMIM:615471
Acrocallosal Syndrome
Long philtrum, Thin vermilion border, Short philtrum, Hypoplasia of teeth, Open mouth, Wide anter... OMIM:200990
Neurofaciodigitorenal Syndrome
Brachycephaly, Abnormal oral mucosa morphology, Abnormality of the philtrum, Plagiocephaly ORPHA:2673
Poems Syndrome
Pleural effusion, Pericardial effusion, Edema, Ascites ORPHA:2905
3P25.3 Microdeletion Syndrome
Short philtrum, Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Dee... ORPHA:435638
Stevenson-Carey Syndrome
Atrial septal defect, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Camptodac... OMIM:611961
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Long philtrum, Lymphedema, Deep philtrum, Thin upper lip vermilion, Microphthalmia, Thick lower l... OMIM:152950
Cdags Syndrome
Rectourethral fistula, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Parietal ... OMIM:603116
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Pierre-Robin sequ... OMIM:300373
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Downturned corners of mouth, Ventricular septal defect, Abnormal heart morphology,... ORPHA:404440
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Gaucher Disease Type 3
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... ORPHA:77261
Baraitser-Winter Syndrome 2
Long philtrum, Wide mouth, Oral cleft, Thin upper lip vermilion, Microphthalmia OMIM:614583
Doors Syndrome
Narrow palate, Open mouth, Downturned corners of mouth, Anterior plagiocephaly, Sirenomelia, Spin... ORPHA:79500
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Ventricular septal defect, Campto... OMIM:256520
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large fontanelles, Frontal bossing, Flat occiput, Thickened calvaria, ... ORPHA:2780
Cerebrooculonasal Syndrome
Craniosynostosis, Narrow palate, Downturned corners of mouth, Frontal bossing, Solitary median ma... OMIM:605627
Endocrine-Cerebroosteodysplasia
Midface retrusion, Holoprosencephaly, Natal tooth, Cleft upper lip, Cleft palate, Hydrocephalus OMIM:612651
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Turnpenny-Fry Syndrome
Narrow mouth, Drooling, Dental crowding, Frontal bossing, Abnormality of the dentition, Plagiocep... OMIM:618371
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Tented upper lip vermilion OMIM:616025
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus ORPHA:141333
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Brachycephaly, Wide mouth, Frontal bossing OMIM:608688
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Oxycephaly, Parietal foramina, Plagiocephaly, Delayed... OMIM:101400
Craniofacial Dyssynostosis With Short Stature
Abnormal shape of the occiput, Frontal bossing, Midface retrusion, Brachycephaly, Brachyturriceph... OMIM:218350
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Hydrocephalus ORPHA:1528
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Fro... ORPHA:861
Holoprosencephaly 9
Short philtrum, Midface retrusion, Holoprosencephaly, Agenesis of incisor, Bilateral cleft lip an... OMIM:610829
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, Flat occiput, Brachyceph... OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Congenital contractur... OMIM:613150
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Microdontia, Microphthalmia, Membranous subvalvular aortic stenosis ORPHA:3191
Opitz Gbbb Syndrome, Type Ii
Hiatus hernia, Craniosynostosis, Frontal bossing, Anal stenosis, Smooth philtrum, Umbilical herni... OMIM:145410
Sandestig-Stefanova Syndrome
Camptodactyly, Oral cleft, Perimembranous ventricular septal defect, Muscular ventricular septal ... OMIM:618804
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Frontal bossing, Tongue nodules, B... OMIM:311200
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Cleft upper lip OMIM:273400
Cerebrooculonasal Syndrome
Long philtrum, Solitary median maxillary central incisor, U-Shaped upper lip vermilion, Brachycep... ORPHA:66625
Abnormal Hair, Joint Laxity, And Developmental Delay
Microdontia, Plagiocephaly OMIM:261990
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Aicardi Syndrome
Hiatus hernia, Short philtrum, Plagiocephaly, Intestinal polyposis, Cleft upper lip, Cleft palate... ORPHA:50
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
3Mc Syndrome 1
Lambdoidal craniosynostosis, Wide anterior fontanel, Dental crowding, Skull asymmetry, Cleft uppe... OMIM:257920
Bohring-Opitz Syndrome
Polyhydramnios, Atrial septal defect, Narrow palate, Ventricular septal defect, Camptodactyly, Fl... OMIM:605039
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Arthrogryposis multiplex congenita, Ventricular septal defect, Edema, Skeletal mu... OMIM:607598
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect, Hypodontia, Selective tooth agenesis, Cleft upper lip, Cleft palate, C... OMIM:106260
Trisomy 18
Camptodactyly of finger, Spina bifida, Atrial septal defect, Narrow palate, Narrow mouth, Oligohy... ORPHA:3380
Oculodentodigital Dysplasia
Enamel hypoplasia, Carious teeth, Atrial septal defect, Taurodontia, Joint contracture of the 5th... OMIM:164200
Congenital Rubella Syndrome
Atrial septal defect, Aplasia/Hypoplasia of the iris, Microphthalmia, Ventricular septal defect ORPHA:290
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Camptodactyly of finger, Microphthalmia ORPHA:2547
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long philtrum, Carious teeth, Craniosynostosis, Frontal bossing, Midface retrusion, Dentinogenesi... ORPHA:536467
Adnp Syndrome
Smooth philtrum, Umbilical hernia, Plagiocephaly, Thin upper lip vermilion, Trigonocephaly, Brach... ORPHA:404448
Microphthalmia, Syndromic 13
Diastema, Microphthalmia OMIM:300915
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
16P13.2 Microdeletion Syndrome
Brachycephaly, Hydrocephalus, Plagiocephaly ORPHA:500055
Frontonasal Dysplasia 3
Brachycephaly, Cleft palate OMIM:613456
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Wide mouth, Submucous cleft hard palate, Unilateral cleft lip, Thick l... OMIM:619103
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Microphthalmia ORPHA:1473
3Q29 Microduplication Syndrome
Aniridia, Ventricular septal defect, Camptodactyly of toe, Deep philtrum, Abnormality of the dent... ORPHA:251038
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Delayed eruption of teeth, Short philtrum, Open mouth, Camptodactyly, Anen... OMIM:619148
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Duane Retraction Syndrome
Everted lower lip vermilion, Plagiocephaly, Spina bifida occulta, Cleft palate ORPHA:233
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Downturned corners of mouth, Abnormal heart morphology, Deep philtrum, Cleft lip, ... OMIM:618571
Hemifacial Microsomia
Hypoplasia of facial musculature, Branchial anomaly, Ventricular septal defect, Wide mouth, Cleft... OMIM:164210
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Postaxial Acrofacial Dysostosis
Non-midline cleft lip, Cleft palate ORPHA:246
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Microphthalmia, Tented upper lip vermilion OMIM:614105
Popliteal Pterygium Syndrome
Cleft palate, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Spina bifida occulta OMIM:119500
Holoprosencephaly 3
Midface retrusion, Holoprosencephaly, Solitary median maxillary central incisor, Proboscis, Cleft... OMIM:142945
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion OMIM:108050
Hartsfield Syndrome
Craniosynostosis, Cleft palate, Cleft upper lip, Lobar holoprosencephaly, Hypoplasia of the front... OMIM:615465
Frontofacionasal Dysplasia
Midface retrusion, Oral cleft, Brachycephaly, Cleft upper lip, Bifid uvula, Hypoplasia of the fro... OMIM:229400
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, Narrow mouth OMIM:600118
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Median cleft lip and palate, Ventricular septal defect, Holoprosencephaly, Natal ... OMIM:269860
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mit... ORPHA:2008
Renal Agenesis, Bilateral
Sirenomelia, Non-midline cleft lip, Cleft palate, Abnormal intestine morphology, Tracheoesophagea... ORPHA:1848
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Hypoplasia of teeth, Microphthalmia, Cleft palate, Microdontia, Widely spac... ORPHA:2728
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Linear Nevus Sebaceus Syndrome
Biparietal narrowing, Prominent occiput, Frontal bossing, Plagiocephaly ORPHA:2612
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Holoprosencephaly, Microphthalmia, Anophthalmia, Hydrocephalus ORPHA:77298
Ring Chromosome 7 Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Holoprosencephaly, Plagiocephaly, Median cle... ORPHA:1449
Oculocerebrocutaneous Syndrome
Cleft palate, Microphthalmia, Anophthalmia OMIM:164180
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate ORPHA:96181
Acrofrontofacionasal Dysostosis 1
Oligodontia, Wide mouth, Brachycephaly, Cleft upper lip, Cleft palate OMIM:201180
Mosaic Trisomy 9
Polyhydramnios, Camptodactyly of finger, Spina bifida, Atrial septal defect, Hydrops fetalis, Oli... ORPHA:99776
Bartsocas-Papas Syndrome
Narrow mouth, Median cleft lip, Cleft palate ORPHA:1234
Temtamy Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Microphthalmia ORPHA:1777
Craniofrontonasal Syndrome
Frontal bossing, Abnormality of the dentition, Umbilical hernia, Cleft palate, Brachycephaly, Cle... OMIM:304110
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Hydrocephalus, Open mouth, Plagiocephaly ORPHA:457284
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Craniotelencephalic Dysplasia
Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia OMIM:218670
Kapur-Toriello Syndrome
Oral cleft, Tetralogy of Fallot, Microphthalmia, Ventricular septal defect ORPHA:2328
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Congenital muscular dystrophy, Skeletal muscle hypertrophy, Hypoglycosylation of al... ORPHA:370959
Q Fever
Endocarditis, Pericarditis, Abnormal heart valve morphology, Pleural effusion, Pericardial effusi... ORPHA:781
Ellis-Van Creveld Syndrome