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Gene: Alx1 MGI:104621

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ALX homeobox 1

Synonyms:

Cart1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Alx1 mutations

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

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

Human diseases associated with Alx1 (2 diseases)
Human diseases predicted to be associated with Alx1 (1941 diseases)

The table below shows human diseases associated to Alx1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Frontonasal Dysplasia 3		Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Upper eyelid coloboma, Cleft palate,...	OMIM:613456
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome		Epicanthus, Sparse eyelashes, Underdeveloped nasal alae, Hypoplasia of the maxilla, Sparse eyebro...	ORPHA:306542

The table below shows human diseases predicted to be associated to Alx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c...	OMIM:619452
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal...	ORPHA:2007
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate	OMIM:600776
Holoprosencephaly 7	Synophrys, Hypoplastic nasal septum, Shallow orbits, Iris coloboma, Median cleft palate, Bilatera...	OMIM:610828
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia	OMIM:611638
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Thin upper lip vermilion, Broad nasal tip, Narrow jaw, Wide nasal bridge, Thin eyebrow, Long phil...	OMIM:618147
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Broad nasal tip, Thick lower lip vermilion, Wide nasal bridge, Short philtrum, Thick upper lip ve...	OMIM:600093
Frontonasal Dysplasia 1	Epicanthus, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypopl...	OMIM:136760
17Q21.31 Microduplication Syndrome	Epicanthus, Anteverted nares, Micrognathia, Abnormality of the dentition, Synophrys, High palate,...	ORPHA:217340
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-midline cleft lip, Cl...	ORPHA:1104
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cle...	OMIM:613885
14Q11.2 Microdeletion Syndrome	Epicanthus, Exaggerated cupid's bow, Depressed nasal bridge, Highly arched eyebrow, Micrognathia,...	ORPHA:261120
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums	ORPHA:401942
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Broad nasal tip, Wide nasal bridge, Cleft palate, Microphth...	OMIM:615524
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Diprosopus	Non-midline cleft lip, Anencephaly, Cleft palate, Abnormality of the nose	ORPHA:1681
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Exaggerated cupid's bow, Anteverted nares, Wide nasal bridg...	OMIM:619311
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Everted lower lip vermilion, High palate, Blepharophimosis,...	ORPHA:1695
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li...	OMIM:147250
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft ala nasi, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft...	OMIM:610829
Frontofacionasal Dysplasia	Encephalocele, Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasa...	ORPHA:1791
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Cleft palate, ...	ORPHA:2166
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, S...	OMIM:122880
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypoplasia of t...	OMIM:167730
Oculomaxillofacial Dysostosis	Median cleft lip, Abnormal eyelid morphology, Micrognathia, Abnormality of the dentition, Abnorma...	ORPHA:1794
Zechi-Ceide Syndrome	Wide nose, Cleft upper lip, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Narrow pa...	OMIM:612916
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Abnormal...	ORPHA:141099
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Orofacial cleft, Broad nasal tip	ORPHA:85287
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Dislocation Of The Hip-Dysmorphism Syndrome	Epicanthus, Prominence of the premaxilla, Anteverted nares, Patent ductus arteriosus, Depressed n...	ORPHA:2412
Pai Syndrome	Encephalocele, Telecanthus, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft pala...	ORPHA:1993
Intellectual Developmental Disorder, Autosomal Recessive 45	Anteverted nares, Highly arched eyebrow, Synophrys, Bulbous nose, Wide nasal bridge, Upslanted pa...	OMIM:615979
Frontofacionasal Dysplasia	Telecanthus, Malar flattening, Cleft upper lip, Blepharophimosis, Underdeveloped nasal alae, Orof...	OMIM:229400
Intellectual Disability, Wolff Type	Microretrognathia, Non-midline cleft lip, Thick lower lip vermilion, Bulbous nose, Wide nasal bri...	ORPHA:3080
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Microphthalmia With Limb Anomalies	Abnormal eyebrow morphology, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Depress...	ORPHA:1106
Syngnathia	Cleft palate	OMIM:119550
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, P...	OMIM:243310
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Synophrys, Downslanted palpebral fissures, Wide nasal bridge, Micrognathia	ORPHA:3207
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Epicanthus, Thick eyebrow, Anteverted nares, Depressed nasal bridge, Highly ...	OMIM:615834
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Synophrys, Retrognathia, Wide nasal bridge	OMIM:619844
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid...	OMIM:619736
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abn...	ORPHA:2673
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia, Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, A...	ORPHA:2250
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Microcephaly	ORPHA:293
Trigonocephaly 2	Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge	OMIM:614485
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem...	OMIM:142946
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hartsfield Syndrome	Encephalocele, Depressed nasal bridge, Non-midline cleft lip, Cleft palate, Lobar holoprosencepha...	ORPHA:2117
Gómez-López-Hernández Syndrome	Turricephaly, Telecanthus, Cerebellar vermis hypoplasia, Hydrocephalus, Brachycephaly, Midface re...	ORPHA:1532
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose	ORPHA:2835
Intellectual Developmental Disorder, X-Linked 91	High palate, Epicanthus, Macrodontia, Short nose	OMIM:300577
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Optic disc hypoplasia, Depressed nasal bridge, Wide nasal bridge, Death in childhood, Downslanted...	OMIM:609528
Mosaic Trisomy 14	Anteverted nares, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Cleft palate, Wide mou...	ORPHA:1703
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth...	ORPHA:1832
Phenobarbital Embryopathy	Mandibular prognathia, Epicanthus, Abnormal nasal base norphology, Unilateral cleft lip, Malar fl...	ORPHA:1919
Alazami Syndrome	Wide nose, Depressed nasal bridge, Wide nasal bridge, Wide mouth, Narrow palpebral fissure, Thick...	OMIM:615071
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Frontal bossing, Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares	ORPHA:3074
Hydrolethalus	Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle...	ORPHA:2189
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Synophrys, Wide mouth, Everted lower lip vermili...	ORPHA:2429
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Temtamy Syndrome	Telecanthus, Convex nasal ridge, Micrognathia, Thick lower lip vermilion, Chorioretinal coloboma,...	ORPHA:1777
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ...	OMIM:618736
Burn-Mckeown Syndrome	Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un...	OMIM:608572
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Bilateral ptosis, Brachycephaly, Inappropriate laughter, Hypoplasia of the corpus callosum, Recur...	OMIM:618859
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Lacrima...	ORPHA:1529
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Prominent nasal bridge, Cleft palate	ORPHA:85273
Charlie M Syndrome	Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh...	ORPHA:1406
Clark-Baraitser Syndrome	Thin upper lip vermilion, Epicanthus, Exaggerated cupid's bow, Anteverted nares, Depressed nasal ...	OMIM:617752
Kahrizi Syndrome	Bulbous nose, Wide nasal bridge, Thick vermilion border, Iris coloboma	OMIM:612713
Meckel Syndrome, Type 10	Occipital encephalocele, Epicanthus, Frontal bossing, Anencephaly, Narrow palpebral fissure, Cere...	OMIM:614175
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, Micrognathia, Wide nasal bridge, Cleft palate, High palate, Downslant...	OMIM:618388
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip...	ORPHA:411986
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, Nasal polyposis, Bifid uvula, High palate, Downslanted palpebral fissures, Iris...	OMIM:155145
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater...	ORPHA:2003
Waardenburg Syndrome Type 1	Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Aganglionic megacolon, White eyel...	ORPHA:894
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Wide nose, Underdeveloped nasal alae, Abnormal eyelash morphology, Non-m...	ORPHA:1252
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Short nos...	ORPHA:438178
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus	ORPHA:2476
Velo-Facial-Skeletal Syndrome	Epicanthus, Telecanthus, Abnormality of the dentition, High, narrow palate, Wide nasal bridge	ORPHA:3424
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal brid...	OMIM:614744
Ring Chromosome 1 Syndrome	Telecanthus, Anteverted nares, Wide nasal bridge, Downturned corners of mouth, Long philtrum, Dow...	ORPHA:1437
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na...	ORPHA:1248
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht...	OMIM:607597
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Short palpebra...	ORPHA:1200
Fetal Valproate Spectrum Disorder	Epicanthus, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bord...	ORPHA:1906
Aarskog-Scott Syndrome	Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft upper lip, Abnormality of the dent...	ORPHA:915
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Deep philtrum, Depressed nasal r...	ORPHA:77300
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Micrognathia, Broad nasal tip, Upsl...	OMIM:613544
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Zimmermann-Laband Syndrome 3	Broad nasal tip, Synophrys, Thick lower lip vermilion, Patent ductus arteriosus, Gingival overgro...	OMIM:618658
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia...	OMIM:615761
Lamb-Shaffer Syndrome	Epicanthus, Dental crowding, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Open mouth,...	OMIM:616803
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia	OMIM:611561
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Hypoplasia of the brainste...	OMIM:236500
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Micrognathia, Microcephaly, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Distal 17P13.1 Microdeletion Syndrome	Flat occiput, Prominent nasal bridge, Unilateral polymicrogyria, Microcephaly, Hypoplasia of the ...	ORPHA:319171
Craniosynostosis 6	Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Brach...	OMIM:616602
Ring Chromosome 8 Syndrome	Epicanthus, Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Fetal Alcohol Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Micrognathia, Non-midline cl...	ORPHA:1915
Mmep Syndrome	Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3434
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Micrognathia, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal bridge,...	ORPHA:1516
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Broad nasal tip, Wide nasal bridge, Thin vermilion border, Everted lower lip vermilion, Smooth ph...	ORPHA:73273
Orofaciodigital Syndrome Xi	Bulbous nose, Downslanted palpebral fissures, Wide nasal bridge, Cleft palate	OMIM:612913
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Patent ductus arteriosus, W...	ORPHA:2863
Pierpont Syndrome	Smooth philtrum, Telecanthus, Wide nose, Broad nasal tip, Short nose, Unilateral narrow palpebral...	OMIM:602342
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Fetal Akinesia Deformation Sequence 4	Micrognathia, Wide nasal bridge, High palate, Prenatal death, Neonatal death, Retrognathia	OMIM:618393
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Exaggerated cupid's bow, Anteverted nares, Wide mouth, Delayed eruption of permanent ...	OMIM:618506
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Epicanthus, Dental crowding, Anteverted nares, Highly arched eyebrow, Persistence of primary teet...	OMIM:618342
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Wide nasal bridge, Wide mouth, Narro...	OMIM:619595
Cofs Syndrome	Death in infancy, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Everted lower lip v...	ORPHA:1466
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Wide nasal bridge, Narrow palate, Prominent nose	OMIM:617169
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Open mouth, Retrognathia, Downslanted palpebral fissures, Shor...	OMIM:613670
Potocki-Shaffer Syndrome	Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mout...	OMIM:601224
Chung-Jansen Syndrome	Epicanthus, Anteverted nares, Micrognathia, Synophrys, Upslanted palpebral fissure, Thin vermilio...	OMIM:617991
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Abnormal soft...	ORPHA:884
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, Lagophthalmos, Ectropion of lower eyelids, Neura...	OMIM:119580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly	OMIM:615041
Monosomy 5P	Microretrognathia, Epicanthus, Wide nasal bridge, High palate, Downslanted palpebral fissures	ORPHA:281
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin ...	OMIM:613604
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Intellectual Developmental Disorder, X-Linked 104	Bifid nasal tip, Retrognathia, High palate, Wide nasal bridge	OMIM:300983
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Cerebrooculonasal Syndrome	Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p...	ORPHA:66625
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly	ORPHA:2898
3Q13 Microdeletion Syndrome	Epicanthus, Anteverted nares, Wide nasal bridge, Long philtrum	ORPHA:1621
Microcephaly-Microcornea Syndrome, Seemanova Type	Upslanted palpebral fissure, Epicanthus, Brachycephaly, Microcephaly	ORPHA:2528
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Epicanthus, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Upslanted palpebral fissu...	OMIM:248910
Ohdo Syndrome	Ptosis, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyebrow, Wide ...	OMIM:249620
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Epicanthus, A...	ORPHA:420561
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Depressed nasal bridge, Micrognathia...	OMIM:241800
Non-Distal Duplication 13Q	Abnormality of the dentition, Micrognathia, Abnormal eyelash morphology, Synophrys, Thin vermilio...	ORPHA:1702
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum, ...	OMIM:615433
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, High palate, Anteverted nares, Depressed na...	OMIM:613792
Joubert Syndrome 10	Epicanthus, Deep philtrum, Wide nasal bridge, Thick vermilion border, Downslanted palpebral fissures	OMIM:300804
Gand Syndrome	Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, Wide mouth, Narrow palpebral fissur...	OMIM:615074
Toluene Embryopathy	Microcephaly, Micrognathia, Hypoplasia of the zygomatic bone, Biparietal narrowing, Short nose	ORPHA:1920
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, High palate, Long philtrum, Short nose, Distichiasis	ORPHA:2598
20P12.3 Microdeletion Syndrome	Epicanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, M...	ORPHA:261295
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the max...	OMIM:106260
Orofaciodigital Syndrome Viii	Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate	OMIM:300484
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Broad nasal t...	OMIM:615583
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly, Aggressive behavior	OMIM:309530
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Synophrys, Upslanted palpebra...	OMIM:300143
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Dysostosis, Stanescu Type	Narrow nasal bridge, Cerebral calcification, Abnormal dental enamel morphology, Microcephaly, Hyp...	ORPHA:1798
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Coloboma, Pul...	OMIM:166750
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Orofacial cleft, Wide mouth, Colobo...	OMIM:614583
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Microcephaly	OMIM:302000
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma, Orbital cyst	OMIM:251505
Beemer Lethal Malformation Syndrome	Hydrocephalus, Wide nasal bridge	OMIM:209970
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Perlman Syndrome	Epicanthus, Anteverted nares, Micrognathia, High, narrow palate, Short nose, Wide nasal bridge, A...	ORPHA:2849
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Synophrys, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Smoot...	OMIM:613192
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Microcephaly, Megalencep...	OMIM:613603
Nager Syndrome	Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Non-m...	ORPHA:245
Ring Chromosome 7 Syndrome	Mandibular prognathia, Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, H...	ORPHA:1449
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom...	ORPHA:3145
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the cerebellum, Blepharophimosis, Microcephaly, Aplasia/Hypoplasia of the c...	ORPHA:2570
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Epicanthus, Cleft lip, Deep philtrum, Bulbous nose, Wide nasal bridge, Cleft p...	OMIM:618571
Rafiq Syndrome	Thin upper lip vermilion, Broad eyebrow, Wide nose, Underdeveloped nasolabial fold, Highly arched...	OMIM:614202
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Epicanthus, Anteverted nares, Depressed nasal bridge, Deep philtrum, Wide nasal bridge, Wide mout...	ORPHA:1825
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Broad eyebrow	OMIM:618302
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Bulbous nose, Upsl...	OMIM:618737
Genitourinary And/Or Brain Malformation Syndrome	Epicanthus, Acrania, Absent septum pellucidum, Dysplastic corpus callosum, Upslanted palpebral fi...	OMIM:618820
Distal Deletion 10P	Micrognathia, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Ectopic anus, Downslanted p...	ORPHA:1580
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Abnorma...	OMIM:614098
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Brachycephaly,...	OMIM:618828
Branchio-Oculo-Facial Syndrome	Ptosis, Broad nasal tip, Deep philtrum, Non-midline cleft lip, Nasolacrimal duct obstruction, Oro...	ORPHA:1297
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Highly arched eyebrow, Cleft upper lip, Wid...	OMIM:265050
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Wide nasal bridge, Downturned...	OMIM:618729
Fg Syndrome 4	Wide nasal bridge	OMIM:300422
Cebalid Syndrome	Turricephaly, Highly arched eyebrow, Polyphagia, Brachycephaly, Platystencephaly, Plagiocephaly, ...	OMIM:618774
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteoscler...	OMIM:122860
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia, Down...	OMIM:619981
Ectodermal Dysplasia 13, Hair/Tooth Type	Sparse eyelashes, Depressed nasal bridge, Wide nasal bridge, Oligodontia, Thick vermilion border,...	OMIM:617392
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depresse...	OMIM:618622
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Micrognathia	OMIM:614120
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Mala...	ORPHA:93946
Microphthalmia With Limb Anomalies	Anophthalmia, Depressed nasal bridge, Cleft upper lip, Abnormal eyelash morphology, Deep philtrum...	OMIM:206920
Bartsocas-Papas Syndrome	Median cleft lip, Micrognathia, Underdeveloped nasal alae, Ankyloblepharon, Cleft palate, Sparse ...	ORPHA:1234
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cranio...	ORPHA:1555
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, O...	ORPHA:1790
Marshall Syndrome	Frontal bossing, Cerebral calcification, Anteverted nares, Depressed nasal bridge, Micrognathia, ...	ORPHA:560
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Self-injurious behavior, Frontal cortical atrophy, Brachycephaly, Aggressive behavior	OMIM:300699
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia	ORPHA:2972
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Abnorma...	ORPHA:435628
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo...	ORPHA:521308
Trisomy 12P	Epicanthus, Thick eyebrow, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of m...	ORPHA:1699
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Wide nose, Hypoplasia of the maxilla, Sparse eyebrow, Abnormal e...	ORPHA:2399
Microhydranencephaly	Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag...	OMIM:605013
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Dental crowding, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Rectal pr...	OMIM:617157
Orofaciodigital Syndrome Ix	Telecanthus, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Broad nasal...	OMIM:258865
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Microcephaly	ORPHA:63862
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Thick eyebrow, Exaggerated cupid's bow, Depressed nasal bridge, Sparse eyebrow, Cleft...	OMIM:620098
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Iris colobom...	ORPHA:861
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Brachycephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus ...	OMIM:620200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Highly arched eyebrow, Microg...	ORPHA:404440
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Long eyelashes, Brachycephaly, Thick eyebrow	ORPHA:1514
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Telecanthus, Wide nasal ridge, Narrow palpebral fissur...	ORPHA:487825
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Synophrys, Thick lower lip vermilion, Anosmia, Wide nasal bridge, Blepharo...	OMIM:210745
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Hypoplasia of the zyg...	ORPHA:1110
Zechi-Ceide Syndrome	Mandibular prognathia, Wide nose, Cleft lip, Wide nasal bridge, Cleft palate, Downturned corners ...	ORPHA:217017
Peho-Like Syndrome	Epicanthus, Open mouth, Retrognathia, Short nose	OMIM:617507
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Absent eyebrow, Absent eyelashes, Short nose, Convex nasal ridge	OMIM:200130
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Epicanthus, Anteverted nares, Highly arched eyebrow, Micrognathia, Bilateral...	ORPHA:352490
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Sinusitis, Depressed nasal bri...	ORPHA:1452
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Hydrocephalus, Hypopl...	ORPHA:1812
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Acromicric Dysplasia	Abnormal eyebrow morphology, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermil...	ORPHA:969
6Q25 Microdeletion Syndrome	Epicanthus, Micrognathia, Wide nasal bridge, Cleft palate, Upslanted palpebral fissure, High pala...	ORPHA:251056
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of...	OMIM:616367
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Bifid uvula	OMIM:300958
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
2Q24 Microdeletion Syndrome	Cleft palate, Coloboma, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia, Downsl...	ORPHA:1617
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Thick eyebrow, Anteverted nares, Micrognathia, Synophrys, Wide nasal bridge, Wide mouth, Oligodon...	OMIM:602562
Intellectual Developmental Disorder, Autosomal Dominant 61	Thin upper lip vermilion, Prominent nasal bridge, Synophrys, Wide nasal bridge, Wide mouth, Narro...	OMIM:618009
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Fg Syndrome 5	Epicanthus, Anteverted nares, Depressed nasal bridge, Diastema, Upslanted palpebral fissure, Long...	OMIM:300581
Catel-Manzke Syndrome	Cleft upper lip, Micrognathia, Pierre-Robin sequence, Nasolacrimal duct obstruction, Cleft palate...	OMIM:616145
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft p...	OMIM:615716
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Synophrys, Downturned corners of mouth, Thin ver...	ORPHA:1895
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long eyelashes, Hypoplasia o...	OMIM:618577
Chromosome 3Q29 Duplication Syndrome	Abnormally large globe, Bulbous nose, Wide nasal bridge, Blepharophimosis, Short nose, Downslante...	OMIM:611936
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Exaggerated...	ORPHA:364577
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Upper eyelid coloboma, Cleft palate,...	OMIM:613456
Trisomy 8Q	Micrognathia, Non-midline cleft lip, Myelomeningocele, Wide nasal bridge, Cleft palate, Orofacial...	ORPHA:1752
Axenfeld-Rieger Syndrome	Anal stenosis, Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:782
8Q12 Microduplication Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Narrow mouth, Wide nasal bridge, Everted lower li...	ORPHA:228399
Trigonocephaly 1	Epicanthus, High, narrow palate, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Long ...	OMIM:190440
14Q11.2 Microduplication Syndrome	Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia,...	ORPHA:261229
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Encephalocele, Anophthalmia, Anteverted nares, Prominent nasal brid...	OMIM:605627
Brunet-Wagner Neurodevelopmental Syndrome	Thick vermilion border, Wide nasal bridge, Thin eyebrow	OMIM:619690
Brachydactyly-Preaxial Hallux Varus Syndrome	Micrognathia, Synophrys, Wide nasal bridge, Abnormal palate morphology, Thick eyebrow	ORPHA:1278
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Micrognathia, Narrow mouth, Short nose, Abnormal palate morphology	ORPHA:1495
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Gingival overgrowth, Wi...	ORPHA:137834
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Keipert Syndrome	Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominen...	ORPHA:2662
Warburg Micro Syndrome 1	Anteverted nares, Micrognathia, Wide nasal bridge, Thin vermilion border, Narrow mouth, Microphth...	OMIM:600118
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Spina b...	ORPHA:1327
Simosa Craniofacial Syndrome	Telecanthus, Highly arched eyebrow, Underdeveloped nasal alae, Sparse eyebrow, High, narrow palat...	OMIM:182150
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex...	OMIM:156510
17P13.3 Microduplication Syndrome	Wide nose, High palate, Narrow mouth, Short nose, Downslanted palpebral fissures	ORPHA:217385
Glycosylphosphatidylinositol Biosynthesis Defect 11	Tented upper lip vermilion, Wide nasal bridge, Macroglossia, High palate, Umbilical hernia	OMIM:616025
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Brachycephaly...	ORPHA:83
Trisomy 18P	Telecanthus, Highly arched eyebrow, Micrognathia, Underdeveloped nasal alae, High, narrow palate,...	ORPHA:1715
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Thick lower lip vermilion, Dental malocclusion, Wide nasal...	OMIM:157980
Acrofacial Dysostosis, Catania Type	Microretrognathia, Preauricular pit, Microcephaly, Carious teeth, Hypoplasia of the zygomatic bon...	ORPHA:1786
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent...	ORPHA:2712
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Depressed nasal b...	ORPHA:261144
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Anteverted nares, Carious teeth, Deep philtrum, Thick lower lip vermilion, Aplasia/Hy...	ORPHA:2701
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Epicanthus, Microcephaly, Synophrys, Brachycephaly, Multifocal cerebral white matter abnormalitie...	ORPHA:352530
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Preauricular pit, Microcephaly, Underdeveloped nasal alae	OMIM:601355
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Anteverted nares, Highly arched eyebrow,...	ORPHA:228396
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, Cleft upper...	ORPHA:3253
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Epicanthus, Telecanthus, Wide nasal bridge, Hypoplasia of the zygomatic bo...	ORPHA:1778
Fanconi Anemia, Complementation Group S	Epicanthus, Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Den...	OMIM:617883
Holoprosencephaly 2	Aplasia of the nasal bone, Cyclopia, Remnants of the hyaloid vascular system, Aplasia of the prem...	OMIM:157170
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Midface retrusion	ORPHA:35099
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Telecanthus, Tented upper lip vermilion, Anteverted nares, Underdeveloped nasal alae, Wide nasal ...	OMIM:616158
Congenital Disorder Of Glycosylation, Type 2V	Thin upper lip vermilion, Epicanthus, Underdeveloped nasal alae, Bulbous nose, Low hanging colume...	OMIM:619493
Intellectual Developmental Disorder With Autism And Macrocephaly	Wide nose, Wide nasal bridge, Long philtrum, Open mouth, Downslanted palpebral fissures, Ptosis	OMIM:615032
Distal Duplication 18Q	Abnormal dental morphology, Anteverted nares, Choanal atresia, Micrognathia, Carious teeth, Promi...	ORPHA:1716
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Micrognathia, Upslanted palpebral fissure, Widely spaced teeth, Long...	OMIM:619694
8Q22.1 Microdeletion Syndrome	Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, Hypoplasia of...	ORPHA:178303
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Anteverted nares, Micrognathia, Synophrys, Bulbous nose, Wide nasal b...	OMIM:619320
Thomas Syndrome	Cleft palate, Cleft upper lip	ORPHA:3316
X-Linked Mandibulofacial Dysostosis	Prominent nasal bridge, Microcephaly, Micrognathia, Branchial anomaly, Hypoplasia of the zygomati...	ORPHA:1131
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of...	OMIM:620157
German Syndrome	Abnormal eyebrow morphology, Depressed nasal bridge, Micrognathia, Synophrys, Wide nasal bridge, ...	ORPHA:2077
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Short philtrum, Widely spaced teeth, Microdontia, Exaggerated cupid's bow, Anteverted ...	OMIM:619293
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, C...	OMIM:612530
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Long eyebrows, Cleft upper lip, Wide nasal bridge, Cleft palate, Wide mout...	OMIM:201180
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin...	OMIM:200990
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,...	OMIM:225790
Baker-Gordon Syndrome	Thin upper lip vermilion, Epicanthus, Prominent nasal tip, Short nose, Smooth philtrum	OMIM:618218
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Bulbous nose, H...	OMIM:614105
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, ...	OMIM:300558
Cutis Laxa, Autosomal Recessive, Type Iie	Highly arched eyebrow, Broad nasal tip, Thick lower lip vermilion, Wide nasal bridge, Prominent n...	OMIM:619451
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Thin vermilion ...	ORPHA:171839
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Wide nasal bridge	ORPHA:1513
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Holoprosenc...	OMIM:601357
Orofaciodigital Syndrome Xviii	Prominent nasal bridge, Accessory oral frenulum, Diastema, Cleft lip, Wide nasal bridge, Upslante...	OMIM:617927
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Choanal atresia, Trigonocephaly, Micrognathia, Microcep...	OMIM:619148
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Blepharophimosis, Oral syn...	ORPHA:2016
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia, Iris coloboma	OMIM:147950
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Micrognathia, Wide nasal bridge, Thin vermilion border, Long philtrum, Mic...	ORPHA:1438
Intellectual Developmental Disorder, Autosomal Recessive 5	Telecanthus, Thick eyebrow, Prominent nasal bridge, Prominent nose, Underdeveloped nasal alae, Sy...	OMIM:611091
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Micrognathia, Abnormal eyelid morphology, High, narrow palate, Supernumerary to...	ORPHA:1787
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,...	OMIM:620292
Cornelia De Lange Syndrome 2	Cutis marmorata, Highly arched eyebrow, Microcephaly, Synophrys, Brachycephaly, Long eyelashes, D...	OMIM:300590
Pontocerebellar Hypoplasia Type 10	Highly arched eyebrow, Underdeveloped nasal alae, Wide nasal bridge, Long eyelashes, Long palpebr...	ORPHA:411493
Joubert Syndrome 14	Encephalocele, Epicanthus, Tented upper lip vermilion, Prominent nasal bridge, Highly arched eyeb...	OMIM:614424
Orofaciodigital Syndrome Xix	Epicanthus, Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal al...	OMIM:620107
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Exaggerated cupid's bow, Prominent nasal bridge, Micrognathia, Narrow mouth, Low hang...	OMIM:618659
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Death in infancy, Micrognathia, High palate, Short nose	OMIM:615042
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasa...	OMIM:300215
Pfeiffer Syndrome	Mandibular prognathia, Turricephaly, Hypoplasia of the zygomatic bone, Wide nasal bridge	ORPHA:710
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Death in infancy, Anteverted nares, Highly arched eyebrow, Micrognathia...	OMIM:619135
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Epicanthus, Telecanthus, Dental crowding, Sparse eyelashes, Narrow nos...	OMIM:257850
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Cleft lip, Bifid nasal tip, Up...	ORPHA:398156
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge, Prominent na...	OMIM:620370
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Wide anterior fontanel, ...	OMIM:614541
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Prominent nasal bridge, Wide nasal bridge, Everted lower lip vermilion, Short philtrum, Long phil...	OMIM:619556
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Downturned corners of mouth, ...	OMIM:613443
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Abnormal nasopharynx morphology, Telecanthus, Wide nasal bridge, Nasal con...	OMIM:218400
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Micrognathia	OMIM:248390
Distal Deletion 13Q	Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence...	ORPHA:1590
Distal Monosomy 7Q36	Micrognathia, Non-midline cleft lip, Bulbous nose, Cleft palate, Wide mouth, Upslanted palpebral ...	ORPHA:1636
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Clef...	ORPHA:261236
Man1B1-Cdg	Thin upper lip vermilion, Epicanthus, Wide nose, Long eyebrows, Prominent nose, Sparse eyebrow, W...	ORPHA:397941
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Synophrys, High palate, Short philtrum, Antev...	OMIM:619312
Frontorhiny	Encephalocele, Epicanthus, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, ...	ORPHA:391474
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Micrognathia, Wide nasal bridge, Chorioretinal coloboma, Long philtrum	ORPHA:163937
Desanto-Shinawi Syndrome	Aggressive behavior, Synophrys, Brachycephaly, Agitation, Attention deficit hyperactivity disorde...	OMIM:616708
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Cleft palate, Eyelid coloboma, Malar flattening, Spina bi...	OMIM:268850
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Epicanthus, Dental crowding, Depressed nasal bridge, Micrognathia, Syno...	OMIM:617061
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis...	OMIM:207950
Perching Syndrome	Cyanosis, Dysphagia	OMIM:617055
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia	ORPHA:2975
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Epicanthus, Depressed nasal bridge, Bulbous nose, Bilateral microphthalmos...	ORPHA:369891
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Depressed nasal bridge, Cleft upper lip, Conical tooth...	OMIM:129400
Wiedemann-Steiner Syndrome	Micrognathia, Synophrys, High palate, Brow ptosis, Exaggerated cupid's bow, Highly arched eyebrow...	OMIM:605130
Filippi Syndrome	Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Thin vermilion border, Short...	OMIM:272440
Temtamy Syndrome	Dental crowding, Convex nasal ridge, Highly arched eyebrow, Micrognathia, Hypoplasia of teeth, Ch...	OMIM:218340
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Aggressive behavior, Synophrys, Brachycephaly, Upslanted palpebral fissure, Ptosis	OMIM:616083
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short philtrum, Aplasia/Hyp...	ORPHA:261304
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Brachycephaly, Craniosynostosis	ORPHA:178377
Miller-Dieker Syndrome	Abnormal upper lip morphology, Epicanthus, Anteverted nares, Short nose	ORPHA:531
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Brachycephaly, Ptosis	OMIM:619972
Catifa Syndrome	Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft lip, Cleft palate, Increased overb...	OMIM:618761
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose, Cleft palate, Long philtrum	ORPHA:90653
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Under...	OMIM:615866
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tract infections, Downturned ...	ORPHA:391372
5Q14.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Short nose, Upslanted palpebral fissure, Short philtrum...	ORPHA:228384
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Highly arched eyebrow, Depressed nasal ridge, Wide nasal brid...	ORPHA:1807
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Telecanthus, Hypoplasia of the maxilla, Wide nasal bridge, ...	OMIM:601499
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Synophrys, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wide mouth, Upsla...	OMIM:620250
Tetrasomy 18P	Epicanthus, Thin vermilion border, Narrow mouth, Short nose, Downslanted palpebral fissures, Long...	ORPHA:3307
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Retrognathia, Orofacial cleft, Wid...	OMIM:618804
Pontocerebellar Hypoplasia, Type 3	Reduced cerebral white matter volume, Hypoplasia of the pons, Brachycephaly, Cerebral atrophy, Hy...	OMIM:608027
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Cleft...	ORPHA:163649
Mulibrey Nanism	Wide nose, Dental crowding, Depressed nasal bridge, Absent frontal sinuses, Hypoplastic frontal s...	OMIM:253250
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Thick eyebrow, Perianal abscess, Wide nasal bridge, Wide mouth, Upslant...	OMIM:614684
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Prominent nose, Bulbous nose, Wide nasal bridge, High palate, Ptosis	OMIM:606220
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Anosmia, Hypoplasia of the zygomatic bone, Short nose	ORPHA:1295
Cardiocranial Syndrome, Pfeiffer Type	Micrognathia, High, narrow palate, Temporomandibular joint ankylosis, Wide nasal bridge, Umbilica...	ORPHA:2872
Isolated Exencephaly	Depressed nasal bridge, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Holopr...	ORPHA:563612
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Entropion, Dental crowding, Anteverted nares, Broad nasal tip, Hypoplasia ...	OMIM:617402
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal br...	OMIM:152950
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Patent ductus ar...	ORPHA:3241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Telecanthus, Anteverted nares, ...	ORPHA:438216
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Micrognathia, Cleft upper lip, Cleft palate, Bifid nose, Narrow mouth	OMIM:239800
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Wide nasal bridge, Thick eyebrow, Ptosis	OMIM:301018
Opitz Gbbb Syndrome	Thin upper lip vermilion, Telecanthus, Abnormal nasopharynx morphology, Anteverted nares, Cleft u...	OMIM:300000
Hengel-Maroofian-Schols Syndrome	Epicanthus, Thick eyebrow, Synophrys, Wide nasal bridge, Thick vermilion border, Short philtrum, ...	OMIM:619641
Braddock-Carey Syndrome 1	Telecanthus, Anteverted nares, Pierre-Robin sequence, Wide nasal bridge, Cleft palate, Anteriorly...	OMIM:619980
Ring Chromosome 6 Syndrome	Epicanthus, Wide nasal bridge	ORPHA:1448
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Intestinal malrotation, Prominent nasal bridge, Synophrys, Wide nasal b...	ORPHA:401935
Neurooculocardiogenitourinary Syndrome	Epicanthus, Prominent nasal bridge, Patent ductus arteriosus, Downturned corners of mouth, Colobo...	OMIM:618652
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Wide nasal bridge, Smooth philtrum, Broad nasal tip	OMIM:620393
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Epicanthus, Thick eyebrow, Highly arched eyebrow, Sy...	OMIM:618950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infection...	OMIM:614069
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft ...	ORPHA:79113
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum	ORPHA:1389
Aarskog-Scott Syndrome	Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu...	OMIM:305400
Skraban-Deardorff Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ...	OMIM:617616
Flat Face-Microstomia-Ear Anomaly Syndrome	Telecanthus, Abnormal oral mucosa morphology, Highly arched eyebrow, Micrognathia, Sparse eyebrow...	ORPHA:1968
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Brachyc...	ORPHA:93262
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cerebellar vermis hypoplasia, Cyanotic episode, Secondary microcephaly	OMIM:610992
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Highly arched eyebrow, ...	OMIM:145420
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Dandy-Walker malformation	OMIM:603194
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dela...	ORPHA:819
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Thin vermilion border, Narrow mouth	ORPHA:2370
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Micrognathia, Wide nasal bridge, Prominent nasolabial fold, High palate, N...	OMIM:601680
Tetraamelia Syndrome 1	Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Cleft palate, Microphthalmia, Anal ...	OMIM:273395
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Oculodentodigital Dysplasia	Narrow nasal bridge, Epicanthus, Anteverted nares, Selective tooth agenesis, Narrow nose, Cleft u...	OMIM:164200
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Trigonocephaly With Short Stature And Developmental Delay	Epicanthus, Wide nasal bridge, High palate, Broad alveolar ridges, Convex nasal ridge	OMIM:314320
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the dentition	ORPHA:2776
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Synophrys, Gingival overgrowt...	OMIM:616977
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate, Micrognathia	OMIM:616570
Crouzon Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Co...	ORPHA:207
Terminal Osseous Dysplasia	Epicanthus, Telecanthus, Accessory oral frenulum, Cleft palate, Depressed nasal tip, Upslanted pa...	OMIM:300244
Monosomy 18P	Epicanthus, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of m...	ORPHA:1598
Acalvaria	Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Calvarial s...	ORPHA:945
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Highly arched eyebrow, Aggressive behavior, Brachycephaly, Upslanted palpebral fis...	OMIM:600430
Joubert Syndrome 26	Anteverted nares, Cleft lip, Recurrent upper respiratory tract infections, Cleft palate, Ptosis	OMIM:616784
Vulto-Van Silfhout-De Vries Syndrome	Frontal bossing, Epicanthus, Aggressive behavior, Brachycephaly, Upslanted palpebral fissure, Hor...	OMIM:615828
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Mohr Syndrome	Telecanthus, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hyp...	OMIM:252100
Fetal Trimethadione Syndrome	Epicanthus, Depressed nasal bridge, Micrognathia, Synophrys, High palate, Short nose, Ptosis	ORPHA:1913
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Microcephaly, Synophrys, Polyphagia, Brachycephaly, Self-in...	ORPHA:228402
Acrofrontofacionasal Dysostosis	Broad nasal tip, Non-midline cleft lip, Cleft palate, Eyelid coloboma, Everted lower lip vermilio...	ORPHA:1784
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, Abnormal shape ...	OMIM:218350
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Epicanthus, Wide nasal bridge, Broad secondary alveolar ridge, High palate, Convex nasal ridge	ORPHA:3369
Alg2-Cdg	Epicanthus, Wide nasal bridge, Downslanted palpebral fissures, Iris coloboma	ORPHA:79326
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Widely spaced te...	OMIM:613451
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Slender nose, Micrognathia, Wide mouth, Short nose, Smooth philtrum	OMIM:615419
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	ORPHA:1473
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Epicanthus, Turricephaly, Craniosynostosis, Blepharophimosis, Brachycephaly, Ups...	OMIM:613174
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Patent ductus arteriosus, Sh...	ORPHA:166272
Freeman-Sheldon Syndrome	Abnormality of the dentition, Underdeveloped nasal alae, Narrow mouth, Depressed nasal ridge, Wid...	ORPHA:2053
Spastic Paraplegia 47, Autosomal Recessive	Bulbous nose, Wide nasal bridge, Wide mouth, High palate, Short philtrum	OMIM:614066
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Sparse eyebrow, Wide nasal bridge, Cleft palate, Iris coloboma, Ptosis	ORPHA:66629
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Prominen...	OMIM:618500
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Epicanthus, Telecanthus, Abnormality of the dentition, Micrognathia, Thick lower lip vermilion, D...	ORPHA:85321
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Broad nasal tip, Cleft lip, Synophrys, Cleft palate, Upslanted palpebral fissure	OMIM:300263
Acromelic Frontonasal Dysostosis	Encephalocele, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Clef...	OMIM:603671
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Frontal bossing, Telecanthus, Agenesis of cerebellar vermis, Brachycephaly, Upslan...	ORPHA:228390
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure, Thin vermilion ...	OMIM:616420
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,...	OMIM:616898
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, Microretrognathia, Palpebral edema, Wide nasal bridge, Narrow palpebral fi...	ORPHA:397612
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Absent cupid's bow, Synophrys, Bulbous n...	ORPHA:284169
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Anteverted nares, Abnormal dental enamel morphology, Promi...	ORPHA:2107
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Iris coloboma, Highly arched eyebrow, Optic disc colobom...	ORPHA:2995
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Abnormal zygomatic bone morphology, Unilateral cleft ...	ORPHA:2511
Rauch-Steindl Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Miscarriage, Highly arched eyebrow, Micrognathia...	OMIM:619695
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Thick eyebrow, Anteverted nares, Depressed nasal bridge, Curly eyelashes, Multiple rows of eyelas...	ORPHA:163654
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo...	OMIM:241310
Carpenter Syndrome 2	Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Carious teeth, High,...	OMIM:614976
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Pierre-Robin sequence, Downturned corners of mouth, ...	OMIM:611961
Pentasomy X	Upslanted palpebral fissure, Patent ductus arteriosus, Wide nasal bridge, Micrognathia	ORPHA:11
Tonne-Kalscheuer Syndrome	Prominent nasal bridge, Micrognathia, Prominent nose, Velopharyngeal insufficiency, Wide nasal br...	OMIM:300978
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Anteverted nares, Synophrys, Pierre-Robin sequence, An...	OMIM:617877
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bifid nasal tip, Unilateral microphth...	OMIM:618874
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Anteverted nares, Micrognathia, Carious teeth, Sparse eyebrow, Blepharophimosis...	OMIM:613026
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Micrognathia, Patent ductus arteriosus, Duodenal stenosis, Microphthalmia, Short nose	ORPHA:2547
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Wide nasal bridge, Prominent nose	ORPHA:137831
Roberts-Sc Phocomelia Syndrome	Malar flattening, Cleft upper lip, Micrognathia, Underdeveloped nasal alae, Patent ductus arterio...	OMIM:268300
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Patent ductus a...	OMIM:614886
Rhizomelic Limb Shortening With Dysmorphic Features	Micrognathia, Wide nasal bridge, Long philtrum, Downslanted palpebral fissures, Smooth philtrum	OMIM:618821
Xq28 (MECP2) duplication	Microcephaly, Brachycephaly, Death in childhood, Hypoplasia of the corpus callosum, Dysphagia, Ab...	DECIPHER:45
Achondrogenesis	Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose	ORPHA:932
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Holoprosencephaly-Craniosynostosis Syndrome	Epicanthus, Craniosynostosis, Microcephaly, Brachycephaly, Upslanted palpebral fissure, Plagiocep...	ORPHA:2163
Spastic Paraplegia 52, Autosomal Recessive	Prominent nose, Bulbous nose, Wide nasal bridge, Wide mouth, Thick vermilion border, High palate,...	OMIM:614067
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Wide anterior fontanel, Umbilical hernia, Short n...	ORPHA:2143
Zaki Syndrome	Wide nose, Anteverted nares, Micrognathia, Sparse eyebrow, Patent ductus arteriosus, Wide nasal b...	OMIM:619648
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Sparse eyelashes, Underdeveloped nasal alae, Hypoplasia of the maxilla, Sparse eyebro...	ORPHA:306542
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal br...	ORPHA:435638
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Retrognathia, Chorioretinal coloboma, Short nose, Meckel divertic...	ORPHA:163961
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Epicanthus, Hyperactivity, Aggressive behavior, Microcephaly, Synophrys, Brachyc...	ORPHA:3306
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Cleft palate, Hyp...	OMIM:225060
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Bulbous nose, Patent ductus arteriosus, Cleft palate, Re...	OMIM:244300
Cornelia De Lange Syndrome 5	Telecanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Broad...	OMIM:300882
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Epicanthus, Patent ductus arteriosus, Dental malocclusion, Wide nasal b...	OMIM:619149
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Intestinal malrotation, Highly arched ...	OMIM:614701
Microphthalmia, Syndromic 13	Widely-spaced incisors, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	OMIM:300915
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Open mouth, Wide nasal bridge, Long palpebral fissure	OMIM:600906
Coffin-Siris Syndrome 3	Wide nose, Anteverted nares, Depressed nasal bridge, Cleft palate, Wide mouth, Macroglossia, Dela...	OMIM:614608
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Intestinal obstruction, Telecanthus, Aganglionic megacolon, White ey...	ORPHA:897
Gorlin Syndrome	Mandibular prognathia, Epicanthus, Telecanthus, Carious teeth, Wide nasal bridge, Abnormality of ...	ORPHA:377
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresia, L...	OMIM:619318
Treacher Collins Syndrome 4	Micrognathia, Lower eyelid coloboma, Cleft palate, Choanal stenosis, Malar flattening, Downslante...	OMIM:618939
Multiple Pterygium Syndrome, X-Linked	Epicanthus, Multiple pterygia, Micrognathia, Cleft upper lip, Depressed nasal ridge, Cleft palate	OMIM:312150
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly, Dysphagia	OMIM:264470
Distal Duplication 5Q	Epicanthus, Prominent nasal bridge, Micrognathia, Carious teeth, Narrow mouth, Thin vermilion bor...	ORPHA:96097
Peho Syndrome	Epicanthus, Tented upper lip vermilion, Open mouth, Retrognathia, Short nose	OMIM:260565
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg...	ORPHA:2180
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Micrognathia, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Microphthalmia	ORPHA:93267
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia of the corpus callosum, Plagiocephaly, Dolichoce...	ORPHA:272
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten...	ORPHA:280200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Telecanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, ...	ORPHA:314655
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Cutis marmorata, Hydrocephalus, Brachycephaly, Long eyelashes, Hori...	OMIM:609757
Chromosome 15Q26-Qter Deletion Syndrome	Blepharophimosis, Wide nasal bridge, Micrognathia	OMIM:612626
3Q29 Microduplication Syndrome	Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft palate, Ectopic anus, High ...	ORPHA:251038
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Triangular mouth, Wide nasal bridge	ORPHA:166024
Orofaciodigital Syndrome Xvii	High, narrow palate, Median cleft lip, Retrognathia, Prominent nose	OMIM:617926
Holoprosencephaly	Flat occiput, Depressed nasal ridge, Absent nares, Holoprosencephaly, Aplasia/Hypoplasia of the c...	ORPHA:2162
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Cleft palate, Malar f...	OMIM:611867
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Anteverted nares, Abnormality of th...	OMIM:616331
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Epicanthus, Tented upper lip vermilion, Telecanthus, Anteverted nares, Wide ...	OMIM:619383
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Anteverted nares, Highly arched eyebrow,...	OMIM:608156
Lissencephaly 4	Wide nasal bridge	OMIM:614019
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Sparse eyebrow, Hydrocephalu...	ORPHA:459061
Split hand/foot malformation 1 (SHFM1)	Median cleft lip, Cleft palate	DECIPHER:46
Congenital Disorder Of Glycosylation, Type Id	Epicanthus, Villous atrophy, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate...	OMIM:601110
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Prominent nasal bridge, Optic nerve hypoplasia, Micrognathia, Broad nasal tip, Abnorm...	OMIM:300749
Ophthalmoplegia, External, And Myopia	Spina bifida, Ptosis	OMIM:311000
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion...	OMIM:619854
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Epicanthus, Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Short columella, Um...	ORPHA:1770
Al Kaissi Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Depressed nasal bridge, Broad nas...	OMIM:617694
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Thick eyebrow, Abnormality of the dentition, Supernumerary tooth, Deep ...	ORPHA:502
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Hypoplasia of the corpus callosum, Brachycephaly, Cerebral atrophy, Microcephaly	ORPHA:320385
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, O...	OMIM:619356
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eye...	OMIM:158170
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Microcephaly	ORPHA:93950
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Choanal atresia, Depressed nasal bridge, Myelomeningocele, Macroglossia, Short ...	ORPHA:1914
16P12.1P12.3 Triplication Syndrome	Unilateral ptosis, Epicanthus, Thick eyebrow, High, narrow palate, Bulbous nose, Wide mouth, Thin...	ORPHA:485405
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Epicanthus, Sparse eyelashes, Micrognathia, Carious teeth, Sparse eyebrow, Alve...	OMIM:620070
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Micrognathia, Depressed nasal ridge, Wide mouth, Short philtrum, Microphthalmia...	ORPHA:163966
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Epicanthus, Anteverted nares, Bulbous nose, Thick lower lip vermilion, ...	OMIM:220500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Abnormal dental enamel morp...	ORPHA:1071
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Depressed nasal ridge, Single naris, Cleft palate, Neural tube defec...	ORPHA:93924
Trisomy 13	Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cleft palate, ...	ORPHA:3378
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Trisomy 1Q	Wide nose, Anophthalmia, Depressed nasal bridge, Hydrocephalus, Cleft palate, Narrow mouth, Anal ...	ORPHA:261344
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Frontal bossing, Microcephaly, Brachycephaly, Attention deficit hy...	OMIM:617364
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the cerebellum, Ma...	ORPHA:2715
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Almond-shaped palpebral fissure, Epiblepharon, Bul...	OMIM:619103
Carey-Fineman-Ziter Syndrome	Epicanthus, Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequen...	ORPHA:1358
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Highly arched eyebrow, Megalencephaly, Microcephaly, Brachycephaly, Narrow palpe...	OMIM:600325
9q subtelomeric deletion syndrome	Synophrys, Anteverted nares, Short nose, Protruding tongue	DECIPHER:52
Treacher Collins Syndrome 2	Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Hypoplasia of the zygomatic b...	OMIM:613717
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Epicanthus, Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, High palate	ORPHA:50812
Cantu Syndrome	Epicanthus, Anteverted nares, Depressed nasal bridge, Curly eyelashes, Patent ductus arteriosus, ...	OMIM:239850
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Coloboma, Orofacial cleft	ORPHA:324416
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Bifid nasal tip, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Frontal bossing, Epicanthus, Microcephaly, Brachycephaly, Cerebral atrophy, Plagiocephaly, Hypopl...	OMIM:616801
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Spina bifida oc...	OMIM:617360
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Thick corpus callosum, Upslanted palpebral fissure, Plagiocephaly, Prominent occip...	OMIM:618672
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Hypoplasia of the corpus callosum, Brachycephaly, Cerebral atrophy, Microcephaly	OMIM:615031
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Prominent nose, Micrognathia	OMIM:616171
Otopalatodigital Syndrome Type 1	Depressed nasal bridge, Hypoplastic frontal sinuses, Wide nasal bridge, Cleft palate, Oligodontia...	ORPHA:90650
Achondrogenesis Type 1B	Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose	ORPHA:93298
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Tented upper lip vermilion, Dental crowding, Telecanthus, Depressed nasal bridge, Cle...	OMIM:612582
Cardiofaciocutaneous Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Full cheeks, Hypoplasia...	ORPHA:1340
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Neonatal death, Microphthalmia, Iris...	ORPHA:85284
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Wide nasal bridge	OMIM:614870
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Optic nerve hypoplasia...	OMIM:612513
Acrocephalopolydactyly	Epicanthus, Depressed nasal ridge, Short nose	ORPHA:221054
Lowry-Maclean Syndrome	Delayed eruption of teeth, Convex nasal ridge, Cleft palate	OMIM:600252
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Depressed nasal bridge, Choanal atresia, Hypoplasia of th...	OMIM:101600
Isolated Dandy-Walker Malformation	Encephalocele, Cleft palate	ORPHA:217
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Hypoplasia of the zyg...	ORPHA:742
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Short nose, Downturned corners of mouth, Everted l...	OMIM:617865
Genitopalatocardiac Syndrome	Micrognathia, Non-midline cleft lip, Wide nasal bridge, Cleft palate, Downturned corners of mouth...	ORPHA:2075
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Meningocele, Glossoptosis, Chorioretinal coloboma, B...	ORPHA:2031
Orofaciodigital Syndrome Xv	Lobulated tongue, Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge	OMIM:617127
2Q32Q33 Microdeletion Syndrome	Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Cleft palate, Oligodonti...	ORPHA:251019
Non-Syndromic Metopic Craniosynostosis	Synophrys, Wide nasal bridge	ORPHA:3366
Bartsocas-Papas Syndrome 2	Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Ankylobleph...	OMIM:619339
Cerebrocostomandibular Syndrome	Death in infancy, Cerebral calcification, Spina bifida, Micrognathia, Microcephaly, Myelomeningoc...	ORPHA:1393
Renpenning Syndrome	Mandibular prognathia, Epicanthus, Macrodontia, Prominent nose, High, narrow palate, Cleft palate...	ORPHA:3242
Muenke Syndrome	Brachycephaly, Plagiocephaly, Attention deficit hyperactivity disorder, Coronal craniosynostosis,...	OMIM:602849
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Prominent nasal bridge, Micrognathia, Carious teeth, Prominent nose, D...	OMIM:214150
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median...	OMIM:608670
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal external nose morphology, Prominent occiput, Hypoplasia of the zygomatic bone, Holoprose...	ORPHA:556955
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Depressed nasal bridge, Pierre-Robin sequence, Anteverted nares, Cleft palate	OMIM:184840
Potocki-Shaffer Syndrome	Parietal foramina, Epicanthus, Brachycephaly	ORPHA:52022
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Epicanthus, High palate, Wide nasal bridge, Depressed nasal bridge	OMIM:615760
Trisomy 9P	Dental crowding, Abnormal nasal morphology, Non-midline cleft lip, Impacted tooth, Downturned cor...	ORPHA:236
Acromelic Frontonasal Dysplasia	Encephalocele, Telecanthus, Median cleft lip, Broad nasal tip, Bifid nasal tip, Meningocele, Wide...	ORPHA:1827
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Highly arc...	OMIM:619124
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Microretrognathia, Hamartoma of tongue, Prominent nose, Sparse eyebro...	OMIM:616300
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Telecanthus, Poor wound healing, Brachycephaly, Cerebral atrophy, Downslanted pa...	OMIM:615539
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Single naris, Chronic sinusitis, Ptosis	OMIM:615636
Iniencephaly	Encephalocele, Spina bifida, Abnormal occipital bone morphology, Hydrocephalus, Myelomeningocele,...	ORPHA:63259
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Nance-Horan Syndrome	Mandibular prognathia, Prominent nasal bridge, Prominent nose, Abnormality of the dentition, Supe...	ORPHA:627
Cerebrofaciothoracic Dysplasia	Epicanthus, Thick eyebrow, Wide nose, Cleft upper lip, Synophrys, Cleft palate, Wide mouth, Short...	ORPHA:1394
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Wide nasal bridge, Cleft palate, Upslanted palpebral fissure, Spina bifida occulta	ORPHA:1797
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Turricephaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Cranios...	OMIM:601853
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Codas Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal dental enamel morphol...	ORPHA:1458
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Epicanthus, Micrognathia, Wide nasal bridge, High palate, Malar flattening, Retrognathia, Downsla...	ORPHA:98791
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Optic nerve hypopl...	OMIM:243605
Achondrogenesis Type 1A	Anteverted nares, Micrognathia, Long philtrum, Umbilical hernia, Short nose	ORPHA:93299
Nasal Bones, Absence Of	Short columella, Narrow naris	OMIM:161480
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Thick lower lip vermilion, Dental malocclusion, Bilateral ...	ORPHA:2563
Oculoskeletodental Syndrome	Epicanthus, Thick nasal alae, Depressed nasal bridge, Abnormality of the dentition, Wide nasal br...	ORPHA:557003
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, High palate, Choanal stenosis, Death in infancy, Anteve...	OMIM:615485
Ohdo Syndrome, X-Linked	Ptosis, Epicanthus, Depressed nasal bridge, Hiatus hernia, Micrognathia, Sparse eyebrow, Blepharo...	OMIM:300895
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Narrow pa...	OMIM:220220
Trisomy 18	Microretrognathia, Choanal atresia, Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia o...	ORPHA:3380
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Anteverted nares, Depressed nasal b...	ORPHA:950
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Wide anterior fontanel, Short nose, Wide mouth,...	OMIM:616638
Cutis Laxa, Autosomal Recessive, Type Iid	Entropion, Bulbous nose, Wide nasal bridge, Narrow naris, Blepharophimosis, Retrognathia, Downsla...	OMIM:617403
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnormality of the dentiti...	ORPHA:193
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Prominent nasal bridge, Highly arched eyebrow, Wide nasal bridge, High ...	OMIM:617452
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Short nose	OMIM:618379
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Pursed lips, Anteverted nares, Micrognathia, Wide nasal bridge, Prominent nasolabial fold, Short ...	OMIM:616266
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge	OMIM:300676
Seckel Syndrome 2	Prominent nose, Micrognathia, Microdontia, Microphthalmia, Microglossia	OMIM:606744
Chopra-Amiel-Gordon Syndrome	Microcephaly, Almond-shaped palpebral fissure, Brachycephaly, Upslanted palpebral fissure, Attent...	OMIM:619504
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Abnormality of the dentition, Micrognathia, Broad nasal tip,...	OMIM:618529
Intellectual Developmental Disorder, Autosomal Recessive 70	Retrognathia, Wide nasal bridge	OMIM:618402
Waardenburg Syndrome, Type 1	Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Thick eyebrow, Spina bifida, ...	OMIM:193500
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Dee...	OMIM:610536
Heart And Brain Malformation Syndrome	Anteverted nares, Depressed nasal bridge, High, narrow palate, Cleft lip, Thick lower lip vermili...	OMIM:616920
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Depressed nasal bridge, Abnormal dental enamel m...	ORPHA:439822
Omodysplasia 2	Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognathia, Bifid nasa...	OMIM:164745
Lowry-Maclean Syndrome	Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ...	ORPHA:2409
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short nose, Highly arched eyebrow, Long philtrum	OMIM:300887
Lujan-Fryns Syndrome	Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Aplasia/Hypoplasi...	ORPHA:776
Pterygium Colli, Isolated	Epicanthus, Short nose	OMIM:177990
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Short nose	OMIM:614078
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Exaggerated cupid's bow, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, ...	OMIM:614230
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Wide nose, Anteverted nares, Depressed nasal bridge, Thick lower lip v...	OMIM:614607
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft	OMIM:141400
Neonatal Adrenoleukodystrophy	Anteverted nares, Wide anterior fontanel, Wide nasal bridge, Abnormal palate morphology, Ptosis	ORPHA:44
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri...	ORPHA:3079
20Q11.2 Microduplication Syndrome	Epicanthus, Tented upper lip vermilion, Palpebral edema, Anteverted nares, Depressed nasal bridge...	ORPHA:363659
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Synophrys, Dental malocclusion, Lacrimal ...	OMIM:603457
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Long ph...	OMIM:617333
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Microcephaly, Abnormal globus pallidus morphology, Brachycephaly, Plagiocephaly, Hypoplasia of th...	OMIM:618603
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Epicanthus, Wide nose, Anteverted nares, Micrognathia, Synophrys, Hypop...	ORPHA:391408
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Wide nose, Epicanthus, Depressed nasal ridge, Short nose	ORPHA:2831
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Depressed nasal bridge, Microphthalmia, Downslanted palpebral fissures, Smooth philtrum	OMIM:602501
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Cleft palate, Malar flattening, Short nose, Convex nasal ridge	ORPHA:2145
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Anteverted nares, Downturned corners of mouth, Thick vermilion border, Short nose, Sp...	ORPHA:1185
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Prominent nasal bridge, Micrognathia, Wide nasal bridge, Cleft palate, Glossoptosis	OMIM:618356
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Malar flatte...	OMIM:601808
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Thin vermilion border, Neonatal deat...	OMIM:610015
Even-Plus Syndrome	Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, High palate, Hypodontia...	OMIM:616854
Triploidy	Intestinal malrotation, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft palate, Wide mou...	ORPHA:3376
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose	ORPHA:93328
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal nostril morphology, Anal atresia, Narrow mouth	ORPHA:3469
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Unilateral ptosis, Thin upper lip vermilion, Micrognathia, Patent ductus arteriosus, Wide nasal b...	ORPHA:3304
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Macrocephaly, Prominent nasal bridge, Microcephaly	ORPHA:85279
Femoral-Facial Syndrome	Thin upper lip vermilion, Micrognathia, Cleft palate, Orofacial cleft, Upslanted palpebral fissur...	ORPHA:1988
Benign Samaritan Congenital Myopathy	Epicanthus, Wide nasal bridge, Narrow mouth	ORPHA:324581
Muenke Syndrome	Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Ptosis	ORPHA:53271
Vertebral Hypersegmentation And Orofacial Anomalies	Epicanthus, Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Un...	OMIM:619122
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat...	OMIM:309520
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Telecanthus, Dental crowding, Palpebral edema, Depressed nasal bridge, Deep philtrum, Patent duct...	ORPHA:397709
Fetal Hydantoin Syndrome	Epicanthus, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Short n...	ORPHA:1912
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Exaggerated cupid's bow, Intestinal malrotation, Highly arched eyebrow,...	OMIM:618316
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Wide nasal bridge, High palate, Short nose, Ptosis	OMIM:218000
Congenital Disorder Of Glycosylation, Type Ii	Epicanthus, Wide nasal bridge, Upslanted palpebral fissure, High palate, Iris coloboma	OMIM:607906
Bamforth-Lazarus Syndrome	Cleft palate, Bilateral choanal atresia	OMIM:241850
Snijders Blok-Campeau Syndrome	Epicanthus, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, Umb...	OMIM:618205
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Unilateral narrow palpebral fis...	OMIM:618727
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia, Cleft palate, Cleft upper lip	OMIM:244200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Anteverted nares, Depressed nasal bridge, Malabsorption, Micrognathia, Pro...	OMIM:242860
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Thick eyebrow, Rieger anomaly, Highly arched eyebrow, Micrognathia, Syn...	OMIM:270450
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Micrognathia, Wide nasal bridge, Narrow mouth, Neonatal death, Malar fla...	OMIM:224410
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, W...	ORPHA:989
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Prominent nasal bridge, M...	ORPHA:371364
8Q21.11 Microdeletion Syndrome	Epicanthus, Wide nose, Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Under...	ORPHA:284160
Micro Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, High palate, Short philtrum, Retinal coloboma,...	ORPHA:2510
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, P...	ORPHA:293939
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ...	OMIM:182290
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nas...	OMIM:619833
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Telecanthus, Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion border, Wi...	OMIM:617102
Difference Of Sex Development-Intellectual Disability Syndrome	Synophrys, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short nose, Spina ...	ORPHA:2983
Stickler Syndrome, Type Ii	Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Pierre-Robin sequenc...	OMIM:604841
3C Syndrome	Death in infancy, Depressed nasal bridge, Intestinal malrotation, Micrognathia, High, narrow pala...	ORPHA:7
Goldberg-Shprintzen Syndrome	Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Highly arched eyebrow, Hypoplasia of ...	OMIM:609460
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Hyperactivity, Epicanthus, Aggressive behavior, Brachycephaly, Plagiocephaly, Co...	OMIM:618430
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Downslanted palpebral fissures, Brachycephaly, Craniosynostosis	ORPHA:314575
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr...	ORPHA:2059
Histidinuria Due To A Renal Tubular Defect	Thin upper lip vermilion, Wide nasal bridge, Smooth philtrum, Long philtrum	OMIM:235830
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, Short philtrum, Open mouth, Sho...	OMIM:618437
Isotretinoin Syndrome	Spina bifida occulta, Depressed nasal bridge, Cleft palate	ORPHA:2305
Periventricular Nodular Heterotopia 7	Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Pierre-Robin sequence, Cleft ...	OMIM:617201
Laryngeal Abductor Paralysis	Microcephaly, Cyanosis, Dysphagia	OMIM:150260
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume...	OMIM:311200
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Microcephaly, Brachycephaly, Temporal cortical atrophy, Upslanted palpebral fissure, Plagiocephal...	OMIM:618862
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, Wide nasal brid...	OMIM:618106
Amyotrophy, Hereditary Neuralgic	Epicanthus, Depressed nasal bridge, Cleft palate, Upslanted palpebral fissure, Narrow mouth, Blep...	OMIM:162100
Dubowitz Syndrome	Delayed eruption of teeth, Epicanthus, Telecanthus, Prominent nasal bridge, Micrognathia, Carious...	OMIM:223370
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Bohring-Opitz Syndrome	Bilateral cleft palate, Epicanthus, Anteverted nares, Intestinal malrotation, Depressed nasal bri...	OMIM:605039
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Abnormality of upper lip vermillion, Dental crowding, Prominent nasal bridge, Abnormal...	ORPHA:251028
Koolen-De Vries Syndrome	Epicanthus, Abnormal dental enamel morphology, Prominent nasal bridge, Abnormality of the dentiti...	ORPHA:96169
Postaxial Acrofacial Dysostosis	Choanal atresia, Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Micrognath...	OMIM:263750
Woods Syndrome	Thin vermilion border, Wide nasal bridge, Low hanging columella	OMIM:615236
Hajdu-Cheney Syndrome	Wide nose, Anteverted nares, Micrognathia, Absent frontal sinuses, Dolichocephaly, Hydrocephalus,...	ORPHA:955
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance, Microcephaly, Brachycephaly, Midface retrusion, Cerebral cortical at...	ORPHA:1387
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Jackson-Weiss Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio...	ORPHA:1540
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Epicanthus, Slender nose, Micrognathia, Wide nasal bridge, Short columella, High pal...	ORPHA:562528
White-Kernohan Syndrome	Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Epicanthus inversus, Anteriorly plac...	OMIM:619426
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo...	ORPHA:1942
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Broad nasal tip, Bifid nasal tip, Wide mouth, Upslanted palpebral fissure, Median pseudocleft lip...	OMIM:619758
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Pate...	OMIM:217980
Genitopalatocardiac Syndrome	Micrognathia, Cleft palate, Cleft upper lip	OMIM:231060
Spinocerebellar Ataxia 47	High palate, Wide nasal bridge, Ptosis	OMIM:617931
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hamarto...	OMIM:109400
Rapadilino Syndrome	Slender nose, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Cleft palate, Narrow palpebr...	OMIM:266280
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Anteverted nares, Choanal atresia, Micrognathia, Chorioretinal coloboma, Blepharophim...	ORPHA:494344
Joubert Syndrome 37	Wide nose, Anteverted nares, Wide nasal bridge, High palate, Microphthalmia, Ptosis	OMIM:619185
Keratoconus Posticus Circumscriptus	Cleft palate, Cleft upper lip	OMIM:244600
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Patent ductus arte...	OMIM:301043
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Depressed nasal bridge, Micrognathia, Narrow mouth, Cleft palate, Upslanted palpebral...	OMIM:156610
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Wide nasal bridge,...	OMIM:618580
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Anosmia, Cleft palate	OMIM:612370
Cat-Eye Syndrome	Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atresia	ORPHA:195
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, Short philtrum, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Cl...	OMIM:618454
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Choanal atresia, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous ...	ORPHA:1300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614749
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Micrognathia, Long philtrum, Pterygium, Short nose	ORPHA:93329
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Prominent nose, Bulb...	OMIM:620185
Waardenburg Syndrome, Type 3	Mandibular prognathia, Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Synophrys, Wid...	OMIM:148820
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Brachycephaly	OMIM:614800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Epicanthus, Wide nose, Anteverted nares, Highly arched eyebrow, Cleft upper lip, Micrognathia, Hy...	OMIM:213980
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Epicanthus, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, Absent...	ORPHA:261211
Down Syndrome	Epicanthus, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of the ...	ORPHA:870
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Epicanthus, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal...	OMIM:300260
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, Prominent nose, Wide anterior fontanel, Wide nasal bridge, High palate, Short philt...	OMIM:201170
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Hydrocephalus, Brachycephaly, Agenesis of corpus callosum, Absent extraocular muscles	OMIM:109120
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo...	ORPHA:363417
Macs Syndrome	Irregular dentition, Epicanthus, Palpebral edema, Micrognathia, Sparse eyebrow, Gingival overgrow...	OMIM:613075
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide mouth, Hydrocephalus, Wide nasal base, Wide nasal bridge	OMIM:616521
Waardenburg Syndrome	Abnormal eyebrow morphology, Intestinal obstruction, Telecanthus, Aganglionic megacolon, Aplasia/...	ORPHA:3440
Marshall-Smith Syndrome	Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate...	OMIM:602535
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera...	OMIM:620099
Filippi Syndrome	Wide nose, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge, Thin vermilion b...	ORPHA:3255
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Dental crowding, Intestinal malrotation, Narrow nose, Carious teet...	OMIM:617602
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Ptosis, Epicanthus, Dental crowding, Telecanthus, Underdevelo...	OMIM:193700
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Epicanthus, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Wide ...	ORPHA:2759
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, Micrognathia, High, narrow palate, Submucous cleft hard pa...	ORPHA:2780
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi...	ORPHA:77298
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Anteverted nares, Hypoplasia of teeth, Keratoconjunctivitis sicca, ...	OMIM:234050
Mulibrey Nanism	Wide nasal bridge	ORPHA:2576
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Underdeveloped nasal alae, Synophrys, Wide nasal bridge, Hypoplas...	OMIM:193510
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Cleft palate, Short nose, Ptosis	OMIM:614261
Craniofrontonasal Dysplasia	Abnormality of the dentition, Depressed nasal ridge, Wide nasal bridge, Orofacial cleft, High pal...	ORPHA:1520
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,...	OMIM:211380
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Absent eyebrow, Epicanthus, Sparse eyelashes, Palpebral edema, Prominent n...	OMIM:137940
Coffin-Siris Syndrome 6	Epicanthus, Depressed nasal bridge, Micrognathia, Broad nasal tip, High, narrow palate, Deep phil...	OMIM:617808
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Conjunctivitis, Lambdoi...	OMIM:123500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Unilateral cleft li...	OMIM:616897
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Dental crowding, Hooded eyelid, Micrognathia, Submucous cle...	ORPHA:96170
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Anteverted nares, Micrognathia, Sparse eyebrow, Wide nasal bridge, Narrow mouth, Neonatal death	OMIM:618810
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Exaggerated cupid's bow, High palate, Wide nasal bridge, Death in childhood	OMIM:620316
9P13 Microdeletion Syndrome	Microretrognathia, Epicanthus, Anteverted nares, Highly arched eyebrow, Abnormality of cartilage ...	ORPHA:324313
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Ankyloblepharon, Pterygium, A...	OMIM:263650
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Flared nostrils, Wide nasal bridge, Long philtrum, Ptosis	OMIM:312170
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Abnormality...	ORPHA:363528
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma	OMIM:274270
Recombinant 8 Syndrome	Anteverted nares, Depressed nasal bridge, Cleft upper lip, Abnormality of the dentition, Microgna...	ORPHA:96167
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal bridge, Optic nerve hypop...	ORPHA:357001
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,...	OMIM:234100
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Tented upper lip vermilion, Anteverted nares, Cleft palate, Furrowed tongue, High pal...	OMIM:616449
Rubinstein-Taybi Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Micrognathia, Carious teeth, Abnormality of the d...	ORPHA:783
Harel-Yoon Syndrome	Mandibular prognathia, Short nose, Upslanted palpebral fissure, Micrognathia	OMIM:617183
2Q31.1 Microdeletion Syndrome	Epicanthus, Micrognathia, Deep philtrum, Optic disc coloboma, Synophrys, Bulbous nose, Cleft pala...	ORPHA:251014
Noonan Syndrome 13	Epicanthus, Anteverted nares, Highly arched eyebrow, Micrognathia, Almond-shaped palpebral fissur...	OMIM:619087
Neuhauser Syndrome	Epicanthus, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplasia of the iris, High...	OMIM:249310
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Telecanthus, Depressed nasal bridge, Wide nasal bridge	ORPHA:1522
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Patent ductus arteriosus, ...	ORPHA:65286
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Pa...	OMIM:616462
Postaxial Acrofacial Dysostosis	Micrognathia, Non-midline cleft lip, Ectropion of lower eyelids, Cleft palate, Eyelid coloboma, M...	ORPHA:246
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum, Over...	OMIM:619142
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge, Micrognathia	ORPHA:2256
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida, Micrognathia	ORPHA:2839
Seckel Syndrome 5	Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cleft palate, Oligodontia, High p...	OMIM:613823
Weyers Ulnar Ray/Oligodactyly Syndrome	Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip	OMIM:602418
Lig4 Syndrome	Epicanthus, Telecanthus, Micrognathia, Malabsorption, Wide nasal bridge, Upslanted palpebral fiss...	ORPHA:99812
Moebius Syndrome	Epicanthus, Abnormal nasopharynx morphology, Depressed nasal bridge, Micrognathia, Abnormality of...	OMIM:157900
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly, Microcephaly	OMIM:309541
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Aganglionic megacolon, Prominent n...	ORPHA:247262
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Telecanthus, Wide nasal bridge	ORPHA:380
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Anteverted nares, Bulbous nose, Wide nasal br...	ORPHA:1231
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Poikiloderma With Neutropenia	Depressed nasal bridge, Micrognathia, Carious teeth, Sparse eyebrow, Underdeveloped nasal alae, N...	OMIM:604173
Jacobsen Syndrome	Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal eyelash...	OMIM:147791
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Synophrys, Bulbous nose, Dental ...	OMIM:616737
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Craniosynostosis, Simplified gyral pattern, Lissencephaly, Hypoplas...	ORPHA:284417
Van Maldergem Syndrome 1	Irregular dentition, Epicanthus, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:601390
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Marden-Walker Syndrome	Ptosis, Epicanthus, Anteverted nares, Micrognathia, High, narrow palate, Pyloric stenosis, Wide a...	OMIM:248700
Peroxisome Biogenesis Disorder 2B	Epicanthus, Anteverted nares, High, narrow palate, Wide nasal bridge, High palate	OMIM:202370
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Aggressive behavior, Microcephaly, Corpus callosum atrophy, Simplified gyr...	OMIM:619244
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Malar flattening, Broad nasal tip, Wide anterior ...	OMIM:222448
Unilateral Ocular Duplication	Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Cleft palate, Blepharophimosis, Iri...	ORPHA:3374
Oculodentodigital Dysplasia	Mandibular prognathia, Narrow nasal bridge, Epicanthus, Median cleft lip, Anteverted nares, Abnor...	ORPHA:2710
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Microcephaly, Brachycephaly, Upslanted palpebral fissure, Lissencephaly, H...	OMIM:618142
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Wide nasal bridge, High palate, Bleph...	OMIM:110100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Depressed nasal bridge, Short nose	OMIM:616910
Sweeney-Cox Syndrome	Choanal atresia, Micrognathia, Broad nasal tip, Wide anterior fontanel, Velopharyngeal insufficie...	OMIM:617746
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Epicanthus, High, narrow palate, Bulbous nose, Cleft palate, Anteriorly...	OMIM:618494
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Synophrys, Bulbous no...	OMIM:615803
Trisomy 20P	Smooth philtrum, Epicanthus, Thick eyebrow, Anteverted nares, Spina bifida, Abnormality of the de...	ORPHA:261318
Walker-Warburg Syndrome	Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:899
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Carious teeth, Hypoplasia of the ma...	ORPHA:50814
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Turricephaly, Diffuse cerebral atrophy, Highly arched eyebrow, Spina bif...	OMIM:613776
Megalocornea-Intellectual Disability Syndrome	Epicanthus, Micrognathia, Wide nasal bridge, Hypoplasia of the iris, Everted lower lip vermilion,...	ORPHA:2479
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Anteverted nares, Micrognathia, Microdontia, Microphthalmia	ORPHA:3191
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Choanal atresia, Prominent nasal bridge, Patent ductus arteriosus, Optic disc coloboma, Cleft pal...	ORPHA:52055
Opitz-Kaveggia Syndrome	Anal stenosis, Epicanthus, Dental crowding, Intestinal malrotation, Choanal atresia, Cleft upper ...	OMIM:305450
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Anosmia, Cleft palate, Bifid nose, Hyposmia	OMIM:614838
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Epicanthus, Abnormality of the dentition, Synophrys, Wide nasal bridge, Abnormal palate morpholog...	ORPHA:1970
Fraser Syndrome 1	Cleft ala nasi, Dental crowding, Anophthalmia, Malformed lacrimal duct, Choanal stenosis, Cryptop...	OMIM:219000
Spondylometaphyseal Dysplasia, X-Linked	Depressed nasal bridge, Anteverted nares, Wide nasal bridge	OMIM:313420
Kleefstra Syndrome Due To A Point Mutation	Microcephaly, Brachycephaly, Plagiocephaly, Self-injurious behavior, Abnormal cerebral white matt...	ORPHA:261652
Hereditary Methemoglobinemia	Cyanosis, Microcephaly, Temporal cortical atrophy, Frontal cortical atrophy, Global brain atrophy...	ORPHA:621
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hydrocephalus, Anencephaly, Holoprosencephaly, Macrocephaly, Neonatal death	OMIM:269860
Atelosteogenesis, Type Iii	Frontal bossing, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Prominent occip...	OMIM:108721
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Low insertion o...	OMIM:619995
Aicardi Syndrome	Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, Cleft upper lip, Opt...	OMIM:304050
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Paten...	OMIM:616894
Cerebrooculofacioskeletal Syndrome 2	Prominent nose, Micrognathia, Death in childhood, Microphthalmia, Convex nasal ridge	OMIM:610756
Joubert Syndrome 15	Exencephaly	OMIM:614464
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Downturned corners of mouth, Telecanthus, Wide nasal bridge, Micrognathia	ORPHA:2774
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:958
Cdags Syndrome	Ptosis, Frontal bossing, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Parietal fo...	OMIM:603116
Weiss-Kruszka Syndrome	Epicanthus, Exaggerated cupid's bow, Anteverted nares, Highly arched eyebrow, Horizontal crus of ...	OMIM:618619
Sialuria	Thin upper lip vermilion, Epicanthus, Synophrys, Wide nasal bridge, Macroglossia, High palate, Lo...	OMIM:269921
Beemer-Ertbruggen Syndrome	Bulbous nose, Deep philtrum, Wide nasal bridge, Micrognathia	ORPHA:1237
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Micrognath...	OMIM:309500
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip	OMIM:214300
Roifman-Chitayat Syndrome	Lacrimal duct stenosis, Depressed nasal bridge, Thin lower lip vermilion, Wide nasal bridge, Umbi...	OMIM:613328
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Wide nasal bridge, Ptosis	ORPHA:2229
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Bamforth-Lazarus Syndrome	Retrognathia, Choanal atresia, Cleft palate	ORPHA:1226
Juberg-Hayward Syndrome	Anteriorly placed anus, Ptosis, Highly arched eyebrow, Cleft upper lip	OMIM:216100
Kapur-Toriello Syndrome	Intestinal malrotation, Bulbous nose, Patent ductus arteriosus, Orofacial cleft, Retinal coloboma...	ORPHA:2328
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Micrognathia, Long eyelashes, Volvulus, Short nose	OMIM:617802
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Microcephaly, Brachycephaly, Cerebral cortical atrophy, Thin corpus callosum, Progressive microce...	OMIM:620240
Gombo Syndrome	Microphthalmia	OMIM:233270
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Prominent eyelashes, Gingival overgrowth, Wide nasal b...	OMIM:619179
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Death in infancy, Abnormality of the dentitio...	ORPHA:2315
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Telecanthus, Crowded maxillary incisors, Hypoplasia of the maxilla, Blepha...	ORPHA:397973
Chromosome 10Q26 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Micrognathia, Prominent nose, Patent ductus arteriosus, Fla...	OMIM:609625
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted...	OMIM:614609
Chromosome 18P Deletion Syndrome	Epicanthus, Anteverted nares, Micrognathia, Depressed nasal ridge, Wide nasal bridge, High palate...	OMIM:146390
Distal Deletion 9P	Epicanthus, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, U...	ORPHA:1642
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Shallow orbits, Short nose, Downslanted palpebral fissures, Micrognathia	ORPHA:1129
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Depressed nasal ridge, High palate, Short philtrum, Anteverted nares...	OMIM:618332
Al-Raqad Syndrome	Thin upper lip vermilion, Short nose, Narrow mouth	OMIM:616459
Hamamy Syndrome	Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Anteverted nares, Micrognathia, Sparse e...	OMIM:611174
Oculocerebrofacial Syndrome, Kaufman Type	Absent eyebrow, Epicanthus, Telecanthus, Flat occiput, Microcephaly, Brachycephaly, Upslanted pal...	ORPHA:2707
Coffin-Lowry Syndrome	Delayed eruption of teeth, Death in early adulthood, Epicanthus, Wide nose, Abnormal dental morph...	ORPHA:192
8P23.1 Microdeletion Syndrome	Epicanthus, Prominent nasal bridge, Micrognathia, Patent ductus arteriosus, Wide nasal bridge, Up...	ORPHA:251071
Metaphyseal Acroscyphodysplasia	Epicanthus, Depressed nasal ridge, Wide nasal bridge, Telecanthus	ORPHA:1240
Ring Chromosome 13 Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Anencephal...	ORPHA:96176
Cousin Syndrome	Frontal bossing, Blepharophimosis, Hydrocephalus, Narrow palpebral fissure, Hydranencephaly, Shor...	OMIM:260660
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Marshall Syndrome	Epicanthus, Anteverted nares, Depressed nasal bridge, Malar flattening, Micrognathia, Absent fron...	OMIM:154780
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Open mouth, Thick upper lip vermilion	OMIM:611087
49,Xxxyy Syndrome	Mandibular prognathia, Epicanthus, Micrognathia, Recurrent upper respiratory tract infections, Wi...	ORPHA:261534
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Downturned ...	OMIM:618590
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip	OMIM:609654
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral morphology, Brachycephaly, Dysphagia	ORPHA:70472
Familial Benign Copper Deficiency	Deep philtrum, Wide nasal bridge, Aplasia/Hypoplasia of the fovea	ORPHA:1551
Chromosome 1P35 Deletion Syndrome	Thin upper lip vermilion, Micrognathia, Almond-shaped palpebral fissure, Wide nasal bridge, High ...	OMIM:617930
Raine Syndrome	Mandibular prognathia, Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Hi...	OMIM:259775
Marcus-Gunn Syndrome	Unilateral ptosis, Choanal atresia, Cleft lip, Cleft palate, Abnormality of the sense of smell, C...	ORPHA:91412
Cri-Du-Chat Syndrome	Microretrognathia, Epicanthus, Thick lower lip vermilion, Wide nasal bridge, Orofacial cleft, Dow...	OMIM:123450
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Coloboma, Iris coloboma	OMIM:610023
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Retrognathia, Bifid uvula	OMIM:612561
Dermotrichic Syndrome	Blepharophimosis, Depressed nasal bridge, Aganglionic megacolon, Short nose	ORPHA:99688
Cohen Syndrome	Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt...	OMIM:216550
Van Maldergem Syndrome 2	Irregular dentition, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia...	OMIM:615546
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Abnormal dental enamel morphology, Accessory oral fr...	ORPHA:2750
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri...	OMIM:614207
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Micrognathia, Short nos...	ORPHA:2083
Orofaciodigital Syndrome Vi	Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Micrognathia, Broad na...	OMIM:277170
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Progressive microcephaly	ORPHA:71277
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Ca...	OMIM:607812
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Anteverted nares, Highly arched eyebrow, Micrognathia, Depressed nasal bridge, U...	OMIM:619005
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Rhizomelic Chondrodysplasia Punctata, Type 2	Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, Submucous cleft h...	OMIM:222765
Cornelia De Lange Syndrome 1	Micrognathia, High, narrow palate, Synophrys, Downturned corners of mouth, Widely spaced teeth, H...	OMIM:122470
Rabin-Pappas Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Broad nasal t...	OMIM:620155
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption...	ORPHA:50
Cutis Laxa, Autosomal Recessive, Type Iia	Anteverted nares, Carious teeth, Wide anterior fontanel, Narrow mouth, High palate, Long philtrum...	OMIM:219200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Flat occiput, Abnormal cortical gyration, Exencephaly, Brachycephaly, Macrogyria, ...	ORPHA:2211
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Koolen-De Vries Syndrome	Epicanthus, Prominent nasal bridge, Cleft upper lip, Pyloric stenosis, Bulbous nose, Patent ductu...	OMIM:610443
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition, Patent ductu...	ORPHA:2095
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Epicanthus, Dental crowding, Intestinal malrotation, Paranasal sinus ...	OMIM:300373
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Telecanthus, Cerebellar vermis hypoplasia, Brachycephaly, Upslanted palpebral fissure, Agenesis o...	OMIM:620073
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Prominent nasal bridge, Optic nerve hypoplasia, Sparse eyebrow, Narrow m...	ORPHA:261349
Renal Agenesis, Bilateral	Epicanthus, Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate...	ORPHA:1848
Fraser Syndrome	Encephalocele, Anal stenosis, Cleft ala nasi, Depressed nasal bridge, Dental crowding, Anophthalm...	ORPHA:2052
Martin-Probst Syndrome	Epicanthus, Telecanthus, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal...	OMIM:300519
Pyruvate Dehydrogenase Deficiency	Epicanthus, Wide nasal bridge, Upslanted palpebral fissure, High palate, Long philtrum	ORPHA:765
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate	ORPHA:139471
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Prominent n...	OMIM:156200
Laurence-Moon Syndrome	Epicanthus, Brachycephaly	ORPHA:2377
Orofaciodigital Syndrome V	Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o...	OMIM:174300
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Wide nasal br...	OMIM:180500
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Highly arched eyebrow, Brachycephaly, Upslanted palpebral fissure, Epicanthus inversus, Ptosis	ORPHA:2988
Ritscher-Schinzel Syndrome 4	Impulsivity, Aggressive behavior, Brachycephaly, Plagiocephaly, Agenesis of corpus callosum, Down...	OMIM:619435
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Death in childhood, Short nose	OMIM:618961
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft lip, Holoprosencephaly, Cleft palate	ORPHA:2165
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Ptosis, Broad eyebrow, Depresse...	OMIM:601088
Non-Distal Deletion 10Q	Epicanthus, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Ptosis	ORPHA:1581
Autosomal Recessive Faciodigitogenital Syndrome	Telecanthus, Anteverted nares, Prominent nasal bridge, Micrognathia, Open bite, Deep philtrum, Wi...	ORPHA:1974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Broad nasal tip, Underdeveloped nasal alae, High, narrow pala...	OMIM:272950
Uruguay Faciocardiomusculoskeletal Syndrome	Wide nose, Prominent nose, Synophrys, Everted lower lip vermilion, Thick vermilion border, Retrog...	OMIM:300280
Meckel Syndrome	Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Depressed nasal rid...	ORPHA:564
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Osteogenesis Imperfecta, Type Xviii	Micrognathia, Abnormality of the dentition, Wide nasal bridge, Long eyelashes, Umbilical hernia	OMIM:617952
Orofaciodigital Syndrome Type 2	Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveola...	ORPHA:2751
Joubert Syndrome 3	Epicanthus, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Open mouth, Ptosis	OMIM:608629
Hartsfield Syndrome	Wide nose, Craniosynostosis, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Age...	OMIM:615465
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Wide nasal bridge, Anteriorly placed anus, Upslanted palpebral fissure, Blepharophi...	ORPHA:1352
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Duane Retraction Syndrome	Anteverted nares, Optic disc hypoplasia, Micrognathia, Blepharophimosis, Wide nasal bridge, Cleft...	ORPHA:233
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo...	ORPHA:3107
Oculoauriculovertebral Spectrum With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ectopic anus, Short mandibular ...	ORPHA:2549
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor...	OMIM:302350
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Upslanted palpebral fissure, Short nose	ORPHA:496790
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Epicanthus, Telecanthus, Sparse eyelashes, Sparse eyebrow, Wide nasal bridge, Abnormality of prim...	ORPHA:75496
C Syndrome	Epicanthus, Anteverted nares, Accessory oral frenulum, Micrognathia, Patent ductus arteriosus, Wi...	OMIM:211750
Steinfeld Syndrome	Bifid uvula, Retinal coloboma, Aplasia of the nose, Microphthalmia, Iris coloboma, Median cleft l...	OMIM:184705
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose, Ptosis	OMIM:170100
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Prominent nose, Micrognathia, High palate, Chorioretinal coloboma, Hyperplasia of the maxilla	OMIM:620194
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Orofacial cleft, Narr...	ORPHA:3301
Cenani-Lenz Syndrome	Ectropion, Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Ma...	ORPHA:3258
Tetrasomy 5P	Epicanthus, Anteverted nares, Micrognathia, Wide anterior fontanel, Wide nasal bridge, Upslanted ...	ORPHA:3309
Microcephaly-Micromelia Syndrome	Wide nose, Micrognathia, Cleft palate, Narrow mouth, Neonatal death, Microphthalmia, Convex nasal...	OMIM:251230
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Micrognathia, Alveolar ridge overgrowth, Cleft palate...	OMIM:235255
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia...	OMIM:616546
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge, Micrognathia, Thin vermilio...	OMIM:241410
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Upslanted palpebral fis...	ORPHA:481152
Pallister-Hall Syndrome	Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Patent d...	OMIM:146510
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Epicanthus, Prominent nose, Wide nasal bridge, Wide mouth, Long philtrum, Umbilical hernia, Malar...	ORPHA:1292
Autosomal Recessive Amelia	Non-midline cleft lip, Orofacial cleft, Micrognathia	ORPHA:1027
Cantú Syndrome	Epicanthus, Anteverted nares, Curly eyelashes, Patent ductus arteriosus, Wide nasal bridge, Wide ...	ORPHA:1517
Short Syndrome	Telecanthus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygomatic ...	ORPHA:3163
Monosomy 9P	Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Abnormality of the d...	ORPHA:261112
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Brachycephaly, Prominent occiput, Downslanted palpebral fissures, Dandy-Walker mal...	OMIM:220210
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Impulsivity, Aggressive behavior, Microcephaly, Hydrocephalus, Bra...	ORPHA:500055
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Micrognathia, Broad nasal tip, Deep philtrum, Synophrys, Wide nasal bridge, High pala...	OMIM:614969
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wid...	OMIM:182212
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Short nose	ORPHA:329178
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Iris coloboma, Bifid...	OMIM:620186
Ruvalcaba Syndrome	Dental crowding, Thin vermilion border, Narrow mouth, Short nose, Downslanted palpebral fissures,...	ORPHA:3121
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Cyanosis, Microcephaly, Cerebral atrophy, Abnormal basal ...	ORPHA:391428
Zimmermann-Laband Syndrome	Telecanthus, Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis, C...	ORPHA:3473
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Narrow palpebral fissure, Short nose, Upslanted palpebral fissure	OMIM:618087
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prom...	OMIM:300912
Trisomy 17P	Broad eyebrow, Wide nose, Micrognathia, Prominent nose, Patent ductus arteriosus, Orofacial cleft...	ORPHA:261290
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Flat occiput, Highly arched eyebrow, Microcephaly, Brachycephaly, Aplasia/Hypoplasia of the corpu...	ORPHA:505237
Al-Gazali-Bakalinova Syndrome	Malar flattening, Triangular mouth, Depressed nasal bridge, Wide nasal bridge	OMIM:607131
Glass Syndrome	Dental crowding, Anteverted nares, Prominent nasal bridge, Conical tooth, Micrognathia, Long nose...	OMIM:612313
Cockayne Syndrome Type 2	Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia of the p...	ORPHA:90322
Fountain Syndrome	Craniofacial hyperostosis, Epicanthus, Cutis marmorata, Spina bifida, Synophrys, Erythema, Spina ...	ORPHA:3219
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Highly arched e...	OMIM:600987
Warburg Micro Syndrome 3	Micrognathia, Narrow palate, Downturned corners of mouth, Blepharophimosis, Microphthalmia, Short...	OMIM:614222
Sheldon-Hall Syndrome	High palate, Wide nasal bridge, Micrognathia	ORPHA:1147
Sialuria	Thin upper lip vermilion, Epicanthus, High, narrow palate, Wide nasal bridge, Smooth philtrum	ORPHA:3166
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Bifid uvula, Lagophthalmos...	OMIM:616580
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate, High palate, ...	ORPHA:1307
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Microcephaly, Brachycephaly, Attention deficit hyperactivity disorder, Pe...	OMIM:618798
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Epicanthus, Sinusitis, Choanal atresia, Cleft upper l...	OMIM:251260
Congenital Myopathy 22A, Classic	Dental crowding, Micrognathia, Bilateral ptosis, Synophrys, Wide nasal bridge, High palate, Neona...	OMIM:620351
Meier-Gorlin Syndrome 6	Microretrognathia, Entropion, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae...	OMIM:616835
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hypoplasia of the pons, Synophrys, Partial agenesis of the corpus callosum, ...	OMIM:619512
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Malar flattening, Short nose	OMIM:614613
Craniofrontonasal Syndrome	Telecanthus, Abnormality of the dentition, Cleft upper lip, Bifid nasal tip, Wide nasal bridge, C...	OMIM:304110
Lathosterolosis	Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Meningocele, Gingival overgrowth, Downt...	ORPHA:46059
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia...	OMIM:170390
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Intestinal malrotation, Depr...	OMIM:244450
Adams-Oliver Syndrome 2	Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow palpebral fissure, Microphthalmia	OMIM:614219
Distal Deletion 10Q	Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Micrognathia, Prominent nose, Paten...	ORPHA:96148
Joubert Syndrome 28	Wide nasal bridge, Highly arched eyebrow	OMIM:617121
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Sparse eyelashes, Abnormal oral mucosa morphology, D...	OMIM:305100
Breath-Holding Spells	Cyanosis	OMIM:607578
Aminoacylase 1 Deficiency	Wide nasal bridge	OMIM:609924
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Epicanthus, Depressed nasal bridge, Wide nose, Cle...	OMIM:242840
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Micrognathia, Deep philtrum, Bulbous nose, Everted lower li...	OMIM:613884
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Micrognathia, Carious teeth, Blepha...	OMIM:616734
Zellweger Syndrome	Death in infancy, Epicanthus, Depressed nasal bridge, Micrognathia, Malabsorption, Pyloric stenos...	ORPHA:912
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Intellectual Developmental Disorder, Autosomal Dominant 51	Epicanthus, Wide nasal bridge, Wide nasal base, Sparse lateral eyebrow, Low hanging columella	OMIM:617788
Meckel Syndrome 12	Anteverted nares, Micrognathia, Antecubital pterygium, Wide nasal bridge, Bifid uvula	OMIM:616258
Progressive Non-Infectious Anterior Vertebral Fusion	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Wide mouth, Thin vermilion border, Short...	ORPHA:2062
Fibrochondrogenesis 2	Malar flattening, Short nose, Anteverted nares, Micrognathia	OMIM:614524
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Curly eyelashes, Micrognathia, Prominent nose, ...	OMIM:301022
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, High palate, Umb...	OMIM:104350
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Synophrys, Underdeveloped nasal...	ORPHA:90024
Ablepharon Macrostomia Syndrome	Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, H...	ORPHA:920
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Highly arched eyebrow, Patent ductus arteriosus, Wide nasal bridge, Orofa...	ORPHA:1519
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Micrognathia, Prot...	OMIM:617062
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep...	OMIM:604757
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, Downturned c...	ORPHA:1299
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Telecanthus, Gastritis, Wide nasal bridge, Micrognathia	ORPHA:2575
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anteverted nares, Depressed nasal bridge, Curly eyelashes, Thick lower lip vermilion, Wide nasal ...	OMIM:611717
Holoprosencephaly 11	Cleft lip, Holoprosencephaly, Cleft palate	OMIM:614226
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long eyebrows, Microcephaly, Simplified gyral pattern, Abnormal cerebral white matter morphology,...	OMIM:614407
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Dental crowding, Abnormality of the dentition, Micrognathia, Synophrys, Congenital pt...	ORPHA:476126
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop...	OMIM:601812
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Tolchin-Le Caignec Syndrome	Thick eyebrow, Hooded eyelid, Micrognathia, Prominent nose, Submucous cleft hard palate, Nasolacr...	OMIM:618971
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide anterior fontanel, Wide nasal bridge	OMIM:614859
3Mc Syndrome 1	Conjunctival telangiectasia, Telecanthus, Dental crowding, Highly arched eyebrow, Cleft upper lip...	OMIM:257920
Gapo Syndrome	Epicanthus, Sparse eyelashes, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyeb...	OMIM:230740
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, ...	OMIM:247200
Desmosterolosis	Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, G...	OMIM:602398
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Pterygium	ORPHA:1865
Peho Syndrome	Epicanthus, Palpebral edema, Anteverted nares, Short nose, Gingival overgrowth, Abnormal upper li...	ORPHA:2836
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Prominent nasal bridge, Micrognat...	OMIM:300534
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Thick vermilion border, Malar fla...	OMIM:616723
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Wide nasal bridge	OMIM:610127
Fryns Syndrome	Microretrognathia, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Ant...	OMIM:229850
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Anteverte...	ORPHA:464738
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocc...	OMIM:615560
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Patent ductus ...	OMIM:608149
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Micrognathia, Synophrys, Epicanthus inversus, Microdontia, Bifid uvul...	OMIM:613458
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Open mouth, Retrognath...	ORPHA:561
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Protruding tongue, Patent ductus arteriosus, Alveolar ridge overgrowth, Cleft p...	OMIM:612938
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Wide nasal bridge, Ankyloblepha...	OMIM:612651
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Wide nasal bridge, Xanthelasma, Downslanted pal...	OMIM:616592
Acrocardiofacial Syndrome	Death in infancy, Cleft upper lip, Wide nasal bridge, Cleft palate, Long eyelashes, Anal atresia	ORPHA:2008
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Absent eyebrow, Epicanthus, Sparse eyelashes, D...	OMIM:268400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Upslanted palpebral fissure, Frontal bossing, Plagiocephaly, Brachycephaly	OMIM:616789
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ...	ORPHA:101030
Biemond Syndrome Type 2	Microphthalmia, Coloboma	ORPHA:141333
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Myelomeningocele, Facial telangiec...	OMIM:620141
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Cleft ...	OMIM:601701
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Wide nasal bridge, Buphthalmos, High palate, Short nose, Retrognathia	OMIM:618005
Desmosterolosis	Epicanthus, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Abnormality of the nose...	ORPHA:35107
Waardenburg Syndrome Type 3	Telecanthus, Microcephaly, Blepharophimosis, Acrocyanosis, Downslanted palpebral fissures, Thick ...	ORPHA:896
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Microcephaly, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion	OMIM:619721
Tarp Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Tongue nodules, Glossoptosis, Hi...	OMIM:311900
Tetraploidy	Micrognathia, Cleft palate, Short philtrum, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge	ORPHA:3305
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Mandibular prognathia, Highly arched eyebrow, Broad nasal tip, Synophr...	OMIM:135500
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Coloboma, Depressed nasal bridge	OMIM:612379
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowed tongue, Downturned corners o...	ORPHA:453499
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D...	ORPHA:2753
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Lymphoid nodular hyperplasia, Short nose, Depressed nasal bridge	ORPHA:210548
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus ...	OMIM:614080
Stickler Syndrome	Epicanthus, Telecanthus, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bri...	ORPHA:828
Mycophenolate Mofetil Embryopathy	Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Eyelid coloboma, Bifid nose, Chorioreti...	ORPHA:268249
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Wide nose, Anteverted nares, Depressed nasal bridge, Deep philtrum, Death in ch...	OMIM:613320
Diaphanospondylodysostosis	Myelomeningocele, Cleft palate	ORPHA:66637
Orofaciodigital Syndrome X	Telecanthus, Retrognathia, Depressed nasal bridge, Cleft palate	OMIM:165590
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Tracheoesophageal ...	OMIM:619859
Lymphedema-Distichiasis Syndrome	Ectropion, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Conjunctivitis,...	OMIM:153400
1Q21.1 Microdeletion Syndrome	Epicanthus, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, High palate, Long philtrum...	ORPHA:250989
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge, Cleft palate, Multiple impac...	OMIM:311300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft palate, Cleft upper lip	OMIM:601076
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Highly arched eyebrow, Micrognathia, Patent ductus arteriosu...	ORPHA:2282
Vacterl/Vater Association	Occipital encephalocele, Anencephaly	ORPHA:887
Neu-Laxova Syndrome 1	Wide nose, Spina bifida, Micrognathia, Depressed nasal ridge, Stillbirth, Lissencephaly, Short um...	OMIM:256520
Martsolf Syndrome 1	Epicanthus, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hig...	OMIM:212720
Acitretin/Etretinate Embryopathy	Epicanthus, Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Antecubital pteryg...	ORPHA:40366
Histidinuria-Renal Tubular Defect Syndrome	Wide nasal bridge, Long philtrum	ORPHA:2158
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Hypodontia, Narrow mouth, Smooth phil...	ORPHA:1973
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Micrognathia, Bulbous nose, Patent ductus arteriosus, Dental maloccl...	OMIM:606232
Pseudodiastrophic Dysplasia	Frontal bossing, Brachycephaly, Midface retrusion	OMIM:264180
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Anteverted nares, Micrognathia, Pierre-Robin sequence, Wide nasal bridg...	OMIM:611209
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Upslanted palpebral fissure, Narrow mouth, Short nose	OMIM:613735
Mosaic Trisomy 1	Microretrognathia, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal bridge, Cleft pa...	ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth...	OMIM:613150
Carpenter Syndrome 1	Preauricular pit, Depressed nasal bridge, Sagittal craniosynostosis, Persistence of primary teeth...	OMIM:201000
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Wide nose, Wide nasal bridge	ORPHA:89844
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
X-Linked Intellectual Disability Due To Gria3 Mutations	Cerebellar vermis hypoplasia, Aggressive behavior, Brachycephaly, Hypoplasia of the corpus callos...	ORPHA:364028
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Patent ductus arteriosus, Bulbous nose, Short nose	OMIM:613870
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Epicanthus, Anteverted nares, Depressed nasal bridge, Protruding tongue, D...	OMIM:301040
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly	ORPHA:1335
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Prader-Willi Syndrome Due To Translocation	Micrognathia, Prominent nose, Downturned corners of mouth, High palate, Bifid uvula, Anteverted n...	ORPHA:177907
Enlarged Parietal Foramina	Cleft lip, Occipital encephalocele, Myelomeningocele, Cleft palate	ORPHA:60015
Boomerang Dysplasia	Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae	OMIM:112310
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Wide nasal bridge, Buphthalmos...	ORPHA:521445
Cerebrooculofacioskeletal Syndrome 4	Prominent nasal bridge, Micrognathia, Bilateral microphthalmos, Short philtrum, Death in childhoo...	OMIM:610758
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Kury-Isidor Syndrome	Frontal bossing, Brachycephaly, Attention deficit hyperactivity disorder, Downslanted palpebral f...	OMIM:619762
Pseudotrisomy 13 Syndrome	Encephalocele, Cleft upper lip, Upslanted palpebral fissure, Microphthalmia, Cyclopia, Anal atres...	OMIM:264480
Meckel Syndrome, Type 1	Natal tooth, Occipital encephalocele, Micrognathia, Microcephaly, Large placenta, Hydrocephalus, ...	OMIM:249000
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Orofacial cleft, Narro...	ORPHA:77301
Scarf Syndrome	Epicanthus, Prominent nasal bridge, Wide nasal bridge, Long philtrum, Umbilical hernia, Enamel hy...	OMIM:312830
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Depressed na...	ORPHA:87
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesopha...	ORPHA:3412
Acropectorovertebral Dysplasia	High, narrow palate, Spina bifida, Cleft palate	ORPHA:957
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Syno...	ORPHA:487796
Recombinant Chromosome 8 Syndrome	Secondary microcephaly, Brachycephaly, Cerebral atrophy, Midface retrusion	OMIM:179613
Lig4 Syndrome	Epicanthus, Microcephaly, Brachycephaly, Telangiectasia, Upslanted palpebral fissure, Cutaneous p...	OMIM:606593
Schneckenbecken Dysplasia	Cleft palate, Stillbirth, Umbilical hernia, Short nose, Malar flattening	OMIM:269250
Acrofrontofacionasal Dysostosis 2	Microcephaly, Downslanted palpebral fissures, Brachycephaly, Ptosis	OMIM:239710
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia, Patent ductus arteriosus	OMIM:615297
Kleefstra Syndrome	Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Micrognathia, High, narrow palate, Synophrys, Abnormality of dental eruption, W...	ORPHA:96092
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Long nose, Thin upper lip vermilion, High palate, Wide nasal bridge	OMIM:617146
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Protruding tongue, Micrognathia, Upslanted palpebral fissure, Thick ...	OMIM:608779
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Microcephaly, Brachycephaly, Cerebral atrophy, Inappropriate ...	OMIM:103050
Kleefstra Syndrome 1	Aggressive behavior, Microcephaly, Synophrys, Brachycephaly, Upslanted palpebral fissure, Compuls...	OMIM:610253
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
19P13.12 Microdeletion Syndrome	Hyperactivity, Epicanthus, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Microce...	ORPHA:254346
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Patent duct...	ORPHA:251061
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Rhombencephalosynapsis	Microretrognathia, Septo-optic dysplasia, Aganglionic megacolon, Anteverted nares, Esophageal atr...	ORPHA:59315
Johnson Neuroectodermal Syndrome	Absent eyebrow, Choanal atresia, Carious teeth, Absent eyelashes, Bulbous nose, Anosmia, Cleft pa...	ORPHA:2316
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly, Cerebral atrophy, Horizontal eyebrow, Hypoplasia of the corpus callo...	OMIM:618797
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad eyebrow, Epicanthus, Anteverted nares, Choanal atresia, Micrognathia, Cleft lip, Bulbous no...	OMIM:616975
Jung Syndrome	Telecanthus, Depressed nasal bridge, Wide nasal bridge	ORPHA:2321
Noonan Syndrome 6	Epicanthus, Depressed nasal bridge, Long eyebrows, Bilateral ptosis, Wide nasal bridge, Downslant...	OMIM:613224
Lathosterolosis	Epicanthus, Anteverted nares, Micrognathia, Myelomeningocele, Gingival overgrowth, Wide nasal bri...	OMIM:607330
Piebaldism	White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Wide nasal bridge, Long philtrum	ORPHA:2884
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Cleft palate, Long eyelashes, Sha...	OMIM:601353
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Orofacial cleft, Aplasia of the nose, Microphthalmia, Cyclopia, Iris coloboma	ORPHA:3186
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Wide nasal bridge, Recurrent aphthous stomatitis, Long philtrum	OMIM:615966
Wolf-Hirschhorn Syndrome	Epicanthus, Abnormality of the philtrum, Highly arched eyebrow, Cleft upper lip, Micrognathia, Wi...	ORPHA:280
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo...	ORPHA:453504
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Depressed nasal bridge, Choanal atresia, Abnormality of the dentition, Prominent...	OMIM:300968
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo...	ORPHA:352665
Short Syndrome	Delayed eruption of teeth, Telecanthus, Rieger anomaly, Micrognathia, Underdeveloped nasal alae, ...	OMIM:269880
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Thin upper lip vermilion, Exaggerated cupid's bow, Optic disc hypoplasia, Wide nasal bridge, Depr...	OMIM:619306
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ...	OMIM:619950
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Anteverted nares, Highly arched eyebrow, Micrognathia, Lagophthalmos, Bulbous nos...	OMIM:615065
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Dental crowding, Narrow nasal ridge, Micrognathia, Hypoplasia of teeth,...	OMIM:608612
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Wide nasal bridge, Anal atresia	OMIM:309620
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Micrognathia, Synophrys, Downturned corners of mouth, High palate, Microdontia, La...	OMIM:610759
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Micrognathia, Choanal atresia,...	OMIM:154500
Spastic Paraplegia 51, Autosomal Recessive	Long nose, Bulbous nose, Wide nasal bridge, Wide mouth, Short philtrum, Downslanted palpebral fis...	OMIM:613744
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Downslanted palpebral fissures, Wide nasal bridge	OMIM:175700
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Anencephaly, Stillbirth, Bifi...	OMIM:236680
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis...	OMIM:604292
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Widely spaced teeth, Sparse medial eyebrow, Absent e...	OMIM:601358
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Depressed nasal bridge, Highly arche...	OMIM:280000
Congenital Disorder Of Glycosylation, Type Il	Wide mouth, Short nose, Depressed nasal bridge, Long philtrum	OMIM:608776
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Anteverted nares, Depressed nasal bridge, Abnormality of the dentitio...	OMIM:115150
Macrocephaly/Autism Syndrome	Epicanthus, Depressed nasal bridge, High palate, Long philtrum, Short nose	OMIM:605309
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Sparse lower eyelashes, Prominent nasal bridge, Cleft upper lip, Micrognat...	OMIM:154400
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Epicanthus, Lacrimal duct stenosis, Intestinal malro...	ORPHA:457193
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Rectal prolapse, Gingival overgrow...	OMIM:235510
Congenital Myopathy 22B, Severe Fetal	Tented upper lip vermilion, Dental crowding, Micrognathia, Synophrys, Wide nasal bridge, High pal...	OMIM:620369
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Brachycephaly, Telecanthus, Microcephaly	OMIM:263210
Chromosome 14Q11-Q22 Deletion Syndrome	Epicanthus, Depressed nasal bridge, Micrognathia, Narrow mouth, Patent ductus arteriosus, Wide na...	OMIM:613457
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
Charge Syndrome	Delayed eruption of teeth, Epicanthus, Anophthalmia, Depressed nasal bridge, Choanal atresia, Hig...	ORPHA:138
Monosomy 13Q14	Epicanthus, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Microphthalmia, Iris colobom...	ORPHA:1587
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Bifid nose, Median cleft lip and palate	ORPHA:2213
Trisomy 10P	Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality of the nose, Orof...	ORPHA:171929
Maternal Phenylketonuria	Epicanthus, Anteverted nares, Micrognathia, Esophageal atresia, Bilateral ptosis, Wide nasal brid...	ORPHA:2209
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Depressed nasal bridge, Blepharophimosis, Micrognathia, Bulbous nose, C...	OMIM:603736
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Downslanted palpebral fissur...	OMIM:614526
Congenital Myopathy 13	Telecanthus, Hypercapnia, Microcephaly, Brachycephaly, Hypoxemia, Blepharophimosis, Downslanted p...	OMIM:255995
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Deep philtrum, Patent duc...	OMIM:615398
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Anteverted nares, Depressed nasal brid...	OMIM:268310
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Bilatera...	ORPHA:314679
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Malar prominence, Microphthalmia, Long eyelashes, Micrognathia	ORPHA:48431
Baller-Gerold Syndrome	Narrow nasal bridge, Epicanthus, Prominent nasal bridge, Malabsorption, Micrognathia, Cleft palat...	ORPHA:1225
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow palpebra...	OMIM:614437
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cleft hard palate, ...	ORPHA:250999
49,Xxxxy Syndrome	Epicanthus, Brachycephaly, Upslanted palpebral fissure, Holoprosencephaly, Attention deficit hype...	ORPHA:96264
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Feingold Syndrome 1	Epicanthus, Jejunal atresia, Anteverted nares, Micrognathia, Esophageal atresia, Patent ductus ar...	OMIM:164280
Otopalatodigital Syndrome Type 2	Encephalocele, Depressed nasal bridge, Micrognathia, Myelomeningocele, Pierre-Robin sequence, Hyp...	ORPHA:90652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Meningoencephaloc...	OMIM:236670
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Narrow mouth, Long philtrum, Microphthalmia, Ptosis	OMIM:615663
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Long philtrum, Short nose, Smooth ph...	OMIM:616430
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Nijmegen Breakage Syndrome	Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Abnormal eyelid morphology, Promin...	ORPHA:647
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Narrow mo...	OMIM:616007
Dystonia-Deafness Syndrome 1	Cleft palate, Cleft upper lip	OMIM:607371
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Depressed nasal bridge, Micrognathia, Bulbous nose, Narrow mouth, Blepharophimosis, S...	OMIM:614114
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Malar flattening, Dental m...	OMIM:601552
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Everted lowe...	OMIM:608013
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Aggressive behavior, Dysplas...	ORPHA:488627
Pycnodysostosis	Obtuse angle of mandible, Frontal bossing, Delayed eruption of primary teeth, Persistence of prim...	ORPHA:763
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Absent septum pellucidum, Highly arched eyebrow, Microcephaly, Synophrys, Brachycep...	ORPHA:96147
Wieacker-Wolff Syndrome, Female-Restricted	Microcephaly, Brachycephaly, Dysphagia, Ptosis	OMIM:301041
Retinitis Pigmentosa	Anteverted nares, Wide nasal bridge	ORPHA:791
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Branchiooculofacial Syndrome	Anophthalmia, Micrognathia, Iris coloboma, Depressed nasal bridge, Cleft upper lip, Malrotation o...	OMIM:113620
Choanal Atresia	Cyanosis, Craniosynostosis, Choking episodes	ORPHA:137914
Grant Syndrome	Frontal bossing, Brachycephaly	ORPHA:2097
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pyloric stenosis, Wide anterior fontanel, Submucous cleft hard palate, ...	ORPHA:457279
Diaphanospondylodysostosis	Epicanthus, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Cleft palate, Short nose	OMIM:608022
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Depressed n...	ORPHA:1465
Fibrochondrogenesis 1	Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Narrow mouth, Cleft palate, Sti...	OMIM:228520
Faciodigitogenital Syndrome, Autosomal Recessive	Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Dental malocclusion, Narrow pal...	OMIM:227330
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Cat Eye Syndrome	Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Micrognathia, Patent ductus ar...	OMIM:115470
Saethre-Chotzen Syndrome	Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Open bite, Hypoplasia of the maxilla,...	ORPHA:794
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Palpebral edema, Depressed nasal bridge, Protruding ...	ORPHA:99843
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Narrow palpebral fissure, Long philtrum, Microphthalmia, Iris coloboma, Ptosis	OMIM:615145
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Ankyloblepharon, Popliteal pter...	OMIM:119500
B4Galt1-Cdg	Thin upper lip vermilion, Wide nasal bridge, Long philtrum	ORPHA:79332
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Prominent nose, Underdeveloped nasal alae, Patent ductus arteriosus, Wide nasal bridge, Tooth age...	ORPHA:2637
Desbuquois Dysplasia 1	Microretrognathia, Depressed nasal bridge, Narrow mouth, Concave nasal ridge, Long philtrum, Mala...	OMIM:251450
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Broad nasal tip, Carious teeth, Prominent nasolabial fold, High palate, Long ph...	ORPHA:357074
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition	OMIM:183400
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Brachycephaly, Bicoronal synostosis, Midface retrusion	ORPHA:93258
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Highly arched eyebrow, Prominent nasal br...	ORPHA:220497
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, High, narrow palate, Long philtrum, Aniridia, Umbilical hernia	ORPHA:1101
Omodysplasia 1	Epicanthus, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Popliteal pterygium, Narrow ...	OMIM:258315
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Short nose, Depressed nasal ridge	OMIM:300863
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft palate, Upsl...	OMIM:257300
Holoprosencephaly 14	Median cleft lip, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Cle...	OMIM:619895
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal columella mo...	ORPHA:436003
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Telecanthus, Dental crowding, Micrognathia, High, narro...	ORPHA:314585
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Impulsivity, Aggressive behavior, Microcephaly, Tongue thrusting, Thin corpus callosum,...	OMIM:619580
Laryngotracheoesophageal Cleft	Impaired oropharyngeal swallow response, Cyanosis, Choking episodes	ORPHA:2004
Jacobsen Syndrome	Eyelid coloboma, Broad columella, Iris coloboma, Abnormality of the anus, Death in infancy, Antev...	ORPHA:2308
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Broad nasal tip, Synophrys, Bulbous...	ORPHA:466950
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Epicanthus, Broad nasal tip, Prominent crus of helix, Deep philtrum, Su...	OMIM:619194
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia, ...	OMIM:202650
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Epicanthus, Short nose, Micrognathia	OMIM:615851
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Anteverted nares, Depressed nasal ...	OMIM:166250
Dend Syndrome	Anteverted nares, Bilateral ptosis, Downturned corners of mouth, Long philtrum, Short nose	ORPHA:79134
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard...	ORPHA:2588
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Telecanthus, Wide nose, Synophrys, Patent ductus arteriosus, Wide nasal bridge, Macro...	OMIM:617303
Kabuki Syndrome 2	Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Broad nasal tip, Lower lip pit, Den...	OMIM:300867
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Optic disc c...	ORPHA:568
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Nanophthalmos	Microphthalmia	ORPHA:35612
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Malar...	ORPHA:93259
Alkuraya-Kucinskas Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Upslanted palpebral fissure, High palate,...	OMIM:617822
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:3429
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Anteverted nares, Wide nasal bridge, Death in childhood, Long philtrum, Neonat...	OMIM:614052
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
White-Sutton Syndrome	Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Microcephaly, Abnormal repetitive man...	OMIM:616364
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh...	OMIM:613038
Kyphomelic Dysplasia	Depressed nasal bridge, Micrognathia, Cleft upper lip, Cleft palate, Pterygium	OMIM:211350
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Wide nasal bridge, H...	ORPHA:319182
Adnp Syndrome	Trigonocephaly, Oral-pharyngeal dysphagia, Aggressive behavior, Bilateral ptosis, Microcephaly, B...	ORPHA:404448
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Trichothiodystrophy 1, Photosensitive	Death in infancy, Intestinal obstruction, Malabsorption, Keratoconjunctivitis sicca, Microphthalm...	OMIM:601675
Hallermann-Streiff Syndrome	Natal tooth, Telecanthus, Sparse eyelashes, Choanal atresia, Abnormality of the dentition, Microg...	ORPHA:2108
Limb Body Wall Complex	Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Myelomeningocele, Hydroceph...	ORPHA:2369
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the maxilla, Patent...	ORPHA:79345
Naxos Disease	Cleft upper lip	ORPHA:34217
Microphthalmia, Syndromic 2	Anophthalmia, Oligodontia, Fused teeth, Laterally curved eyebrow, Iris coloboma, Bifid uvula, Per...	OMIM:300166
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Epicanthus, Hypoplastic philtrum, Synophrys, Gingival overgrowth, Hi...	OMIM:618918
Hennekam-Beemer Syndrome	Wide nose, Micrognathia, Long nose, Thick lower lip vermilion, Wide nasal bridge, Upslanted palpe...	ORPHA:2135
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Epicanthus, Dental crowding, ...	OMIM:300998
Den Hoed-De Boer-Voisin Syndrome	Thick eyebrow, Microcephaly, Brachycephaly, Death in adolescence, Downslanted palpebral fissures,...	OMIM:619229
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Hyperplasia of the maxilla	OMIM:613671
17Q24.2 Microdeletion Syndrome	Otosclerosis, Thin upper lip vermilion, Micrognathia, Synophrys, Patent ductus arteriosus after b...	ORPHA:529962
Toriello-Carey Syndrome	Telecanthus, Aganglionic megacolon, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Patent ...	ORPHA:3338
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Unilateral ptosis, Optic nerv...	ORPHA:508498
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Megalencephaly	Wide nasal bridge	ORPHA:2477
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Cleft lip, Malrotation of small bowel, Cleft palate,...	ORPHA:2953
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Microcephaly, Brachycephaly, Plagiocephaly, Midface retrusion, Sparse late...	OMIM:618644
Lymphedema-Distichiasis Syndrome	Ectropion, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Conjunctivitis, Distichiasis,...	ORPHA:33001
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Thin upper lip vermilion, Wide nasal bridge, Short palpebral fissure	OMIM:619714
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Depressed nasal br...	OMIM:267000
Steel Syndrome	Anteverted nares, Wide nasal bridge	OMIM:615155
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Distal Deletion 3P	Epicanthus, Telecanthus, Anteverted nares, Micrognathia, Cleft palate, Downturned corners of mout...	ORPHA:1620
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Microcephaly, Abnormal repetitive mannerisms, Brachycephaly, Stereotypical h...	OMIM:212066
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Depressed nasal bridge, Wide nasal bridge, Micrognathia	OMIM:614887
Menkes Disease	Death in childhood, Brachycephaly, Microcephaly	OMIM:309400
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Bulbous nose, Patent ductus arterios...	OMIM:616682
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Anteverted nares, Highly arched eyebrow, Prominent nasal br...	ORPHA:220493
Wolf-Hirschhorn Syndrome	Epicanthus, Rieger anomaly, Convex nasal ridge, Highly arched eyebrow, Cleft upper lip, Micrognat...	OMIM:194190
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Wide nasal bridge, Cleft palate, Gingivitis	ORPHA:2314
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis, Anorexia	ORPHA:330012
Coffin-Lowry Syndrome	Mandibular prognathia, Telecanthus, Wide nose, Anteverted nares, Highly arched eyebrow, Rectal pr...	OMIM:303600
Cooper-Jabs Syndrome	Umbilical hernia, Frontal bossing, Brachycephaly	ORPHA:1488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Coloboma, Death in childhood	OMIM:613153
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Shallow orbits, Coloboma, Microphthalmia, Micrognathia	OMIM:617306
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Retrognathia, Downturned c...	OMIM:301030
Cutis Laxa, Autosomal Recessive, Type Iiia	Umbilical hernia, Prominent superficial blood vessels, Frontal bossing, Brachycephaly	OMIM:219150
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Rodrigues Blindness	Narrow nasal bridge, Microphthalmia, Tooth malposition	OMIM:268320
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum, Ectr...	OMIM:616395
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Ptosis, Depressed nasal bridge, Micrognathia, Broad nasal tip, Bulbous ...	OMIM:309590
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet...	OMIM:615873
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Epicanthus, Carious teeth, Wide nasal bridge, Enamel hypoplasia	OMIM:277440
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Depressed nasal bridge, Wide mouth, High palate, Death in childhood, Short nose, Down...	OMIM:300661
Focal Dermal Hypoplasia	Narrow nasal bridge, Delayed eruption of teeth, Cleft ala nasi, Anophthalmia, Intestinal malrotat...	OMIM:305600
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Thin upper lip vermilion, Dental crowding, Anteverted nares, Highly arched eye...	OMIM:301044
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Dental crowding, Depressed nasal bridge, Micrognathia, Hypoplasia of...	OMIM:600920
Opitz Gbbb Syndrome	Natal tooth, Telecanthus, Anteverted nares, Micrognathia, Cleft lip, Patent ductus arteriosus, Tr...	ORPHA:2745
Bohring-Opitz Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Synophrys, Wide nasal bridge, ...	ORPHA:97297
Apert Syndrome	Absent septum pellucidum, Sagittal craniosynostosis, Craniosynostosis, Megalencephaly, Hydrocepha...	OMIM:101200
Immunodeficiency 59 And Hypoglycemia	Micrognathia, Malabsorption, Recurrent upper respiratory tract infections, Wide nasal bridge, Hig...	OMIM:233600
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Death in infancy, Epicanthus, Anteverted nares, Cleft upper lip, High, nar...	ORPHA:373
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Co...	OMIM:180849
Encephalopathy, Ethylmalonic	Focal T2 hyperintense basal ganglia lesion, Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Zttk Syndrome	Epicanthus, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Spar...	OMIM:617140
Joubert Syndrome 22	Microphthalmia, Coloboma	OMIM:615665
Witteveen-Kolk Syndrome	High, narrow palate, Short philtrum, High palate, Shallow orbits, Iris coloboma, Hyperplasia of t...	OMIM:613406
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Telecanthus, Lip pit, Hypodontia, Microphthalmia, Iris coloboma, Abnormal ...	ORPHA:1236
9Q33.3Q34.11 Microdeletion Syndrome	Telecanthus, Highly arched eyebrow, Microcephaly, Brachycephaly, Telangiectasia, Plagiocephaly, A...	ORPHA:495818
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Hydrocephalus, Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynosto...	OMIM:207410
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad...	OMIM:101800
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Trichiasis, Highly ar...	OMIM:618460
Aicardi-Goutieres Syndrome 1	Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Erythema...	OMIM:225750
Alagille Syndrome	Frontal bossing, Telangiectasia of the skin, Brachycephaly, Spina bifida occulta, Downslanted pal...	ORPHA:52
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Smooth philtrum, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, Microretrog...	ORPHA:280633
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Micrognathia, Lissenc...	ORPHA:99742
Cockayne Syndrome Type 1	Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim...	ORPHA:90321
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Micrognathia, Cleft palate, Long philtrum, Microphthalmia, Umbilical hernia	ORPHA:2505
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphtha...	ORPHA:2728
Atelosteogenesis, Type I	Encephalocele, Depressed nasal bridge, Micrognathia, Cleft palate, Stillbirth, Multinucleated gia...	OMIM:108720
Angelman Syndrome	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Secondary microcep...	OMIM:105830
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Depr...	OMIM:613610
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depresse...	ORPHA:709
Intellectual Developmental Disorder, Autosomal Dominant 29	Frontal bossing, Hyperactivity, Aggressive behavior, Synophrys, Brachycephaly, Self-injurious beh...	OMIM:616078
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Cleft palate, Concave nasal ridge, Short philtrum, Sparse lateral eyebrow	OMIM:617337
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Wide nasal bridge, Ups...	OMIM:614083
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida, Microcephaly	ORPHA:64754
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge	ORPHA:168486
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, ...	OMIM:617925
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Duodenal stenosis	ORPHA:2470
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Cerebellar vermis hypoplasia, Brachycephaly, Posterior plagiocephaly, Abnormal repetitive manneri...	OMIM:620330
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip	OMIM:273400
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Microcephaly, Thick corpus callosum, Brachycephaly, Posterior plagiocephaly, Hyperint...	OMIM:617798
C Syndrome	Death in infancy, Epicanthus, Anteverted nares, Depressed nasal bridge, Accessory oral frenulum, ...	ORPHA:1308
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Microphthalmia, Umbilical hernia, Retrognathia	OMIM:618914
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Aganglionic megacolon, Anteverted nares, Blepharophimosis, Eyelid colobo...	ORPHA:3339
Mend Syndrome	Telecanthus, Prominent nasal bridge, Micrognathia, Asymmetry of the mouth, Wide anterior fontanel...	ORPHA:401973
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Microcephaly	ORPHA:85290
17Q12 Microduplication Syndrome	Microphthalmia, Synophrys, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Arthrogryposis Multiplex Congenita 5	Death in infancy, Anteverted nares, Micrognathia, Wide nasal bridge, Upslanted palpebral fissure,...	OMIM:618947
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge	OMIM:614732
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, High, narrow palate, Synophrys, Bu...	ORPHA:488632
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Epicanthus, Carious teeth, Wide nasal bridge, Upslanted palpebral fissu...	OMIM:608233
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Olig...	OMIM:612289
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Recurrent upper respiratory tract infections, Micrognathia	ORPHA:3078
Tricuspid Atresia	Cyanosis	ORPHA:1209
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum	OMIM:617527
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anteverted nares, Depressed nasal bridge, Narrow mouth, Microdontia, Short nose, Aplasia/Hypoplas...	ORPHA:2719
Distal Deletion 12Q	Telecanthus, Median cleft lip, Anteverted nares, Micrognathia, High, narrow palate, Supernumerary...	ORPHA:96149
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Ptosis	ORPHA:98913
Dravet Syndrome	Global brain atrophy, Obsessive-compulsive trait, Cyanotic episode, Impulsivity	ORPHA:33069
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Short nose, Hypodontia	ORPHA:544503
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft palate, Cleft upper lip	ORPHA:96181
Hurler Syndrome	Anteverted nares, Depressed nasal bridge, Broad nasal tip, Bilateral ptosis, Gingival overgrowth,...	OMIM:607014
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Cutis marmorata, Craniosynostosis, Aggressive behavior, Hydrocephal...	ORPHA:96121
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Long philtrum	OMIM:615877
Blomstrand Lethal Chondrodysplasia	Natal tooth, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Protruding tong...	ORPHA:50945
Microlissencephaly-Micromelia Syndrome	Short nose, Palpebral edema, Long philtrum	ORPHA:50810
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Flat occiput, Depressed nasal bridge...	OMIM:614188
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Thick vermilion border, Long philtr...	ORPHA:2526
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Wide nasal bridge, Ptosis	OMIM:247410
Plaa-Associated Neurodevelopmental Disorder	Tented upper lip vermilion, Micrognathia, High palate, Long philtrum, Short nose, Smooth philtrum	ORPHA:521426
Deeah Syndrome	Death in infancy, Epicanthus, Malabsorption, Narrow palate, Death in adolescence, Death in childh...	OMIM:619004
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Sclerosteosis 1	Mandibular prognathia, Depressed nasal bridge, Dental malocclusion, Wide nasal bridge, Facial pal...	OMIM:269500
Oculoskeletodental Syndrome	Epicanthus, Wide nasal bridge, Macroglossia, Oligodontia, Protein-losing enteropathy, Broad colum...	OMIM:618440
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Depressed nasal bridge, Sparse eyebrow, High palate, Microphthalmia, Downslante...	ORPHA:35173
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Partial agenesis of the corpus callosum, Brachycephaly, Cerebral atrophy, Plagio...	OMIM:617296
Trichohepatoenteric Syndrome 2	Villous atrophy, Colitis, Depressed nasal bridge, Wide nasal bridge	OMIM:614602
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Upslanted palpebral fissure, Thin calvarium, Spina...	ORPHA:2437
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Synophrys, Wide nasal bridge, ...	OMIM:616728
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Abnormality of the...	ORPHA:363611
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Wide mouth, Upslanted palpebral fissure, Short nose	ORPHA:293948
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
46,Xy Sex Reversal 4	Anteverted nares, Micrognathia, Prominent nose, Depressed nasal ridge, Cleft palate, Upslanted pa...	OMIM:154230
Robinow Syndrome	Dental crowding, Anteverted nares, Depressed nasal bridge, Persistence of primary teeth, Microgna...	ORPHA:97360
Sialidosis Type 1	Thick lower lip vermilion, Wide nasal bridge	ORPHA:812
Constricting Bands, Congenital	Encephalocele, Cleft palate, Cleft upper lip	OMIM:217100
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Anteverted nares, Wide nasal bridge	ORPHA:2518
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Anteverted nares, Abnormality of the dentition, Downturned corners of mouth, Shallow orbits, Mala...	OMIM:612394
Congenital Disorder Of Glycosylation, Type Iit	Abnormal cerebral white matter morphology, Downslanted palpebral fissures, Brachycephaly, Microce...	OMIM:618885
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Micrognathia, Long nose, Synophrys, Cleft palate, Narrow palpebral fissure, High palate, Narrow m...	OMIM:301091
Hereditary Bullous Dystrophy, Macular Type	Turricephaly, Acrocyanosis, Microcephaly	ORPHA:1867
Nanophthalmos 4	Microphthalmia	OMIM:615972
Geleophysic Dysplasia 3	Anteverted nares, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Thick vermilion border...	OMIM:617809
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, High, ...	ORPHA:369837
Joubert Syndrome 2	Encephalocele, Depressed nasal bridge, Optic disc coloboma, High palate, Chorioretinal coloboma, ...	OMIM:608091
Primary Pulmonary Hypoplasia	Hypoxemia, Epicanthus, Cyanosis, Microcephaly	ORPHA:2257
Cadds	Short nose, Micrognathia	ORPHA:369942
Smith-Lemli-Opitz Syndrome	Micrognathia, Advanced eruption of teeth, Iris coloboma, Abnormal dental morphology, Abnormal den...	ORPHA:818
Chops Syndrome	Anteverted nares, High, narrow palate, Synophrys, Patent ductus arteriosus, Downturned corners of...	OMIM:616368
Jaberi-Elahi Syndrome	Sparse eyelashes, Depressed nasal bridge, Sparse eyebrow, Triangular mouth, Short nose	OMIM:617988
Diamond-Blackfan Anemia 1	Epicanthus, Cleft upper lip, Micrognathia, Depressed nasal ridge, Retrognathia, Cleft palate, Col...	OMIM:105650
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Wide nasal bridge	OMIM:614376
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Micrognathia, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, W...	ORPHA:444072
Ogden Syndrome	Micrognathia, Abnormal eyelid morphology, Deep philtrum, Short philtrum, High palate, Thick upper...	OMIM:300855
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate	OMIM:257910
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Depressed nasal bridge, Micrognathia, Cleft upper lip, Stillbirth, Umbilical hernia	OMIM:308050
Weill-Marchesani Syndrome 1	Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N...	OMIM:277600
Buerger Disease	Acrocyanosis	ORPHA:36258
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Microcephaly, Brachycephaly, Self-inj...	ORPHA:468678
Duane-Radial Ray Syndrome	Anal stenosis, Epicanthus, Aganglionic megacolon, Abnormal nasopharynx morphology, Choanal atresi...	OMIM:607323
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Epicanthus, Exaggerated cupid's bow, Spina bifida, Broad nasal tip, Patent ductus arteriosus, Wid...	OMIM:619480
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis, Anorexia	ORPHA:1302
Focal Dermal Hypoplasia	Narrow nasal bridge, Abnormal dental morphology, Abnormal dental enamel morphology, Spina bifida,...	ORPHA:2092
Mosaic Trisomy 9	Intestinal malrotation, Spina bifida, Micrognathia, Bulbous nose, Patent ductus arteriosus, Cleft...	ORPHA:99776
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Patent ductus arteriosus, Bilateral microphthalmos, Wide nasal bridge...	OMIM:601186
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum...	ORPHA:85194
Larsen Syndrome	Depressed nasal bridge, Cleft upper lip, Cleft palate, Hypodontia, Shallow orbits, Malar flatteni...	OMIM:150250
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Epicanthus, Thick eyebrow, Exaggerated cupid's bow, Wide nasal bridge, Fus...	OMIM:300896
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Microcephaly	OMIM:250800
3Mc Syndrome 3	Highly arched eyebrow, Cleft upper lip, Cleft palate, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Bilateral ptosis, Patent ductus a...	ORPHA:1272
Cree Mental Retardation Syndrome	Downslanted palpebral fissures, Brachycephaly, Ptosis	OMIM:606851
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernumerary toot...	OMIM:617088
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Short...	ORPHA:93260
Faciocardiomelic Syndrome	Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion,...	OMIM:612731
Cog5-Cdg	Retrognathia, High palate, Wide nasal bridge, Prominent nose	ORPHA:263487
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Macroglossia, Coloboma, Microphthalmia	ORPHA:370959
Nail-Patella Syndrome	Spina bifida, Cleft upper lip, Antecubital pterygium, Cleft palate, Microphakia, Ptosis	OMIM:161200
Multiple Synostoses Syndrome 1	Thin upper lip vermilion, Asymmetry of the mouth, Underdeveloped nasal alae, Wide nasal bridge, U...	OMIM:186500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Lacrimal duct stenosis, Palpebral edema, Anteverted nares, Depressed nasal bridge, Broad nasal ti...	ORPHA:221139
Holoprosencephaly 1	Proboscis, Aplasia of the nose, Microphthalmia, Cyclopia, Median cleft lip and palate	OMIM:236100
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Abnormality of canine, Sparse eyebr...	ORPHA:477993
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Frontal bossing, Anteverted nares, Craniosynostosis, Micrognathia, H...	ORPHA:2462
Hennekam Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal oral mucosa morpholog...	ORPHA:2136
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Microphthalmia, Keratoconjunctivitis sicca, Abnormality of the dentition	ORPHA:1806
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro...	ORPHA:572333
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Chromosome 1P36 Deletion Syndrome, Distal	Epicanthus, Depressed nasal bridge, Cleft upper lip, Wide anterior fontanel, Synophrys, Submucous...	OMIM:607872
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Abnormality of the dentition, Pat...	ORPHA:457395
48,Xxxy Syndrome	Epicanthus, Brachycephaly, Upslanted palpebral fissure, Attention deficit hyperactivity disorder,...	ORPHA:96263
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Achondrogenesis, Type Ii	Frontal bossing, Stillbirth, Brachycephaly	OMIM:200610
Saethre-Chotzen Syndrome	Abnormal nasolacrimal system morphology, Hypoplasia of the maxilla, Long nose, Prominent crus of ...	OMIM:101400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Prominent nose, Synophrys, Widely spaced teeth, High palate,...	OMIM:612474
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Hurler Syndrome	Death in infancy, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Macroglossia, Rhin...	ORPHA:93473
Neuroocular Syndrome	Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Iris...	OMIM:619539
Frontometaphyseal Dysplasia 2	Depressed nasal bridge, Broad nasal tip, Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, ...	OMIM:617137
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Hypoplasia of olfactory tract, Midface retrusion, Brachyturricephaly...	ORPHA:314621
Roberts Syndrome	Micrognathia, Underdeveloped nasal alae, Cleft upper lip, Cleft palate, High palate, Microphthalm...	ORPHA:3103
Tarp Syndrome	Thick eyebrow, Anteverted nares, Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, ...	ORPHA:2886
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Hypoplasia of the maxill...	OMIM:139210
8Q24.3 Microdeletion Syndrome	Branchial cyst, Cleft maxillary alveolar ridge, Spina bifida occulta, Microretrognathia, Antevert...	ORPHA:508488
Cleidocranial Dysplasia 1	Depressed nasal bridge, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, ...	OMIM:119600
Fucosidosis	Acrocyanosis, Vascular skin abnormality, Brachycephaly	ORPHA:349
Trichohepatoneurodevelopmental Syndrome	Epicanthus, Ectropion, Microcephaly, Almond-shaped palpebral fissure, Synophrys, Brachycephaly, C...	OMIM:618268
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Micrognathia, Narrow mouth, Short nose, Convex nasal ridge	ORPHA:90154
Doors Syndrome	Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, High palate, Spina bifi...	ORPHA:79500
Restrictive Dermopathy 2	Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Convex nasal ridge	OMIM:619793
14Q22Q23 Microdeletion Syndrome	Downturned corners of mouth, Optic nerve aplasia, Anophthalmia, Underdeveloped nasal alae	ORPHA:264200
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Stuve-Wiedemann Syndrome 1	Pursed lips, Death in infancy, Anteverted nares, Micrognathia, Carious teeth, Short nose, Thin ve...	OMIM:601559
De Barsy Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Progeroid facial appearance, Brachycephaly, Prominent v...	ORPHA:2962
Kbg Syndrome	Telecanthus, Microcephaly, Synophrys, Brachycephaly, Attention deficit hyperactivity disorder, Lo...	OMIM:148050
Meckel Syndrome 14	Occipital encephalocele, Decreased calvarial ossification, Cyanosis, Holoprosencephaly	OMIM:619879
Galloway-Mowat Syndrome 1	Epicanthus, Narrow nasal ridge, Micrognathia, Hiatus hernia, Prominent nose, Wide mouth, Hypoplas...	OMIM:251300
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Low hanging columella, Submuc...	OMIM:235730
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Warburg Micro Syndrome 2	Microcephaly, Brachycephaly, Secondary microcephaly, Hypoplasia of the corpus callosum, Polymicro...	OMIM:614225
Williams Syndrome	Death in early adulthood, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Microce...	ORPHA:904
Humero-Radial Synostosis	Meningocele, Microcephaly	ORPHA:3265
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Velocardiofacial Syndrome	Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi...	OMIM:192430
Ablepharon-Macrostomia Syndrome	Hypoplasia of the zygomatic bone, Aplastic zygomatic arch, Abnormal nasal morphology	OMIM:200110
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis	OMIM:263000
Pitt-Hopkins Syndrome	Deep philtrum, Flared nostrils, Wide nasal bridge, Wide mouth, Upslanted palpebral fissure, Short...	OMIM:610954
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Villous atrophy, Telecanthus, Depressed nasal bridge...	ORPHA:79328
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Neu-Laxova Syndrome	Cerebral calcification, Absent septum pellucidum, Spina bifida, Micrognathia, Microcephaly, Trism...	ORPHA:2671
Moebius Syndrome	Death in infancy, Epicanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Abnor...	ORPHA:570
Fibular Hemimelia	Anophthalmia, Spina bifida	ORPHA:93323
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Micrognathia, Synophrys, Dental malocclusion, Wide nasal bridge, Localized hypoplasia...	ORPHA:73223
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Lipomyelomeningoce...	OMIM:601707
Larsen-Like Syndrome	Frontal bossing, Brachycephaly	OMIM:608545
Neu-Laxova Syndrome 2	Spina bifida, Microcephaly, Micrognathia, Depressed nasal ridge, Lissencephaly, Cerebellar hypopl...	OMIM:616038
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In...	ORPHA:2729
Microcephaly 29, Primary, Autosomal Recessive	Thick eyebrow, Hypoplastic philtrum	OMIM:620047
Phocomelia, Schinzel Type	Micrognathia, High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Short no...	ORPHA:2879
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Epicanthus, Meningocele, Dolichocephaly, Umbilical hernia, Downslanted...	ORPHA:2789
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Cleft palate	OMIM:607361
Mucopolysaccharidosis, Type X	Diastema, Open bite, Wide nasal bridge, Widely spaced teeth, Long philtrum	OMIM:619698
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Lateral Meningocele Syndrome	Micrognathia, Hydrocephalus, Meningocele, Umbilical hernia, Dolichocephaly, Platybasia, Malar fla...	OMIM:130720
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Macroglossia	OMIM:613155
Congenital Pulmonary Lymphangiectasia	Cyanosis	ORPHA:2414
Ethylmalonic Encephalopathy	Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Petechiae	ORPHA:51188
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Brachycephaly	OMIM:608688
H Syndrome	Abnormal eyebrow morphology, Malabsorption, Cleft upper lip, Recurrent pharyngitis, Gingival over...	ORPHA:168569
Ehlers-Danlos Syndrome, Classic Type, 1	Epicanthus, Irregularly spaced teeth, Recurrent sinusitis, Umbilical hernia, Bowel diverticulosis...	OMIM:130000
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma	ORPHA:363741
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Chime Syndrome	Epicanthus, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Depres...	ORPHA:3474
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Anteverted nares, Depressed nasal bridge, Optic nerve...	ORPHA:536471
Charge Syndrome	Anophthalmia, Micrognathia, Coloboma, Iris coloboma, Cleft upper lip, Esophageal atresia, Patent ...	OMIM:214800
Shprintzen Omphalocele Syndrome	Epicanthus, Flared nostrils, Wide nasal bridge, Short columella, Thin vermilion border, Anal atresia	OMIM:182210
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma	OMIM:601794
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Micrognathia, Antecubital pterygium, Wide nasal bridge, Popliteal pterygium, Thin ver...	OMIM:609945
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Prominent nasal bridge, Optic nerve hypoplasia, Bilateral microphthalmos, Wide...	ORPHA:468631
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat...	ORPHA:109
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Cleft upper lip, Synophrys, Cleft palate, Thin vermilion border, Down...	OMIM:614294
Noonan Syndrome 3	Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Patent ductus arteriosus, High palate, Sh...	OMIM:609942
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly	ORPHA:2633
Cartilage-Hair Hypoplasia	Epicanthus, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Malabsorption, Spars...	ORPHA:175
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal eyelid morphology, Short philtrum, Abnormal dental enamel morphology, Spin...	ORPHA:567
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate	OMIM:243440
Dahlberg-Borer-Newcomer Syndrome	Telecanthus, Wide nasal bridge	ORPHA:1563
Wildervanck Syndrome	Meningocele	ORPHA:3456
Congenital Heart Block	Cyanosis	ORPHA:60041
Monosomy 22Q13.3	Epicanthus, Dental crowding, Palpebral edema, Bulbous nose, Dental malocclusion, Wide nasal bridg...	ORPHA:48652
Cog1-Cdg	Thin upper lip vermilion, Micrognathia, Pierre-Robin sequence, Wide nasal bridge, High palate, Na...	ORPHA:263508
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Restrictive Dermopathy 1	Micrognathia, Neonatal death, Depressed nasal bridge, Narrow nasal ridge, Absent eyelashes, Wide ...	OMIM:275210
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Microphthalmia With Linear Skin Defects Syndrome	Wide nose, Anophthalmia, Abnormal dental enamel morphology, Hydrocephalus, Wide nasal bridge, Abn...	ORPHA:2556
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Almond-shaped palpebral f...	ORPHA:522077
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Brachycephaly, Dolichocephaly, Long palpebral fissure, Bruis...	OMIM:615582
Achondrogenesis, Type Ia	Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth...	OMIM:200600
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Micrognathia, Pyloric stenosis, Rectal prolapse, Wide nasal bridge, Death in ch...	OMIM:613177
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Flat occiput, Aplasia/Hypoplasia of the corpus callosum, Upslanted palpebral fissure,...	OMIM:214100
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe...	ORPHA:2538
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Culler-Jones Syndrome	Cleft palate, Cleft upper lip	OMIM:615849
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Broad nasal tip, Synophrys, Bulbous...	ORPHA:466943
Meier-Gorlin Syndrome 3	Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Thick vermili...	OMIM:613803
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormality of the dentition, Bu...	OMIM:271510
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Spina bifida occulta, Brachycephaly, Ptosis	ORPHA:500
Autosomal Recessive Spondylocostal Dysostosis	Anteverted nares, Depressed nasal bridge, Microcephaly, Meningocele, Prominent occiput, Macroceph...	ORPHA:2311
Alg3-Cdg	Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti...	ORPHA:79321
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Microphthalmia	OMIM:613730
Gracile Bone Dysplasia	Aniridia, Death in infancy, Microphthalmia, Ankyloglossia	OMIM:602361
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Osteogenesis Imperfecta, Type Xii	Brachyturricephaly, Midface retrusion	OMIM:613849
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Frontal bossing, Absent eyelashes, Parietal foramina, Brachycephaly, Plagiocephal...	ORPHA:85199
Acromesomelic Dysplasia 4	Mandibular prognathia, Synophrys, Wide nasal bridge, Umbilical hernia, Thick eyebrow	OMIM:619636
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Conical ...	OMIM:261540
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Micrognathia, Synophrys, Paten...	ORPHA:444077
Trisomy 8P	Anteverted nares, Depressed nasal bridge, Malrotation of small bowel, Recurrent upper respiratory...	ORPHA:264450
Opsismodysplasia	Depressed nasal bridge, Anteverted nares, Shallow orbits, Long palpebral fissure, Short nose, Lon...	OMIM:258480
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Epicanthus, Depressed nasal bridge, Patent ductus arteriosus, W...	OMIM:600268
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Telecanthus, Intestinal malrotation, Hiatus hernia, ...	OMIM:601776
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Choking episodes, Dysphagia, Ptosis	ORPHA:98914
Branchiootic Syndrome	Branchial fistula, Abnormal nasolacrimal system morphology, Lip pit, Micrognathia, Cleft palate	ORPHA:52429
Congenital Myasthenic Syndrome	Cyanosis, Choking episodes, Dysphagia, Ptosis	ORPHA:590
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Prominent nose, Abnormal periodontium morphology, High palate, Depressed nasal bridge, Patent duc...	ORPHA:480880
Adult Syndrome	Abnormal dental morphology, Prominent nasal bridge, Abnormality of the dentition, Wide nasal brid...	ORPHA:978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted lower lip vermilion, Micro...	OMIM:253280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Frontal bossing, Craniosynostosis, Hydrocephalus, Brachycephaly, Downslanted palpebral fissures, ...	OMIM:245600
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Choanal atresia, Optic disc coloboma, Cleft palate, Rectovaginal fistula,...	OMIM:270420
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Cyanosis	ORPHA:444013
Oculoauricular Syndrome	Phthisis bulbi, Nasolacrimal duct obstruction, Retinal coloboma, Macular hypoplasia, Chorioretina...	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Remnants of the hyaloid vascular system, Optic nerve hypoplasia,...	OMIM:614643
15q26 overgrowth syndrome	Mandibular prognathia, Micrognathia, Prominent nose, Bulbous nose, Wide nasal bridge, High palate...	DECIPHER:81
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Microcephaly, Micrognathia	OMIM:613804
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Telecanthus, Bulbous nose, Wide nasal bridge, Eyelid coloboma, Anal atr...	ORPHA:140952
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis	ORPHA:70587
Joubert Syndrome 1	Epicanthus, Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Highly ar...	OMIM:213300
Cornelia De Lange Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, Widely spaced teeth, High palate, Anteverte...	ORPHA:199
Arterial Tortuosity Syndrome	Hiatus hernia, Pyloric stenosis, Abnormal zygomatic bone morphology, Esophagitis, Blepharophimosi...	ORPHA:3342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Coloboma, Abnormally large globe	OMIM:615249
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arteriosus, Microspherophakia, N...	OMIM:608328
Greenberg Dysplasia	Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Large placenta, Costal cartilage...	OMIM:215140
Hunter-Macdonald Syndrome	Brachycephaly, Upslanted palpebral fissure, Blepharophimosis, Umbilical hernia, Midface retrusion...	OMIM:611962
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Epicanthus, Wide nose, Micrognathia, Depressed nasal ridge, Cleft palate, C...	ORPHA:1052
Craniotubular Dysplasia, Ikegawa Type	Epicanthus, Anteverted nares, Thick lower lip vermilion, Phthisis bulbi, Wide nasal bridge, Long ...	OMIM:619727
Hereditary Orotic Aciduria	Patent ductus arteriosus, Downslanted palpebral fissures, Wide nasal bridge	ORPHA:30
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, ...	OMIM:164210
Thoraco-Abdominal Enteric Duplication	Meningocele	ORPHA:1759
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Depressed nasal bridge, Blepharophimosis, Micrognathia, Patent ductus arteriosus, Depressed nasal...	OMIM:620005
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Lymphangiectasia, Pulmonary, Congenital	Malar flattening, Depressed nasal bridge, Palpebral edema, Wide nasal bridge	OMIM:265300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Epicanthus, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Wide anterior fontanel...	OMIM:266920
Neurocutaneous Melanocytosis	Aplasia/Hypoplasia of the cerebellum, Death in infancy, Meningocele, Dandy-Walker malformation	ORPHA:2481
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Malar flattening, Sparse eyebrow, Concave nasal ridge, Microphthalmia, Downslan...	OMIM:302960
Cranioectodermal Dysplasia 1	Epicanthus, Telecanthus, Anteverted nares, High, narrow palate, Wide nasal bridge, High palate, W...	OMIM:218330
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Cyanosis	OMIM:265120
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Curry-Jones Syndrome	Microphthalmia, Iris coloboma, Optic disc coloboma, Intestinal malrotation	ORPHA:1553
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening, Microcephaly	OMIM:231070
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Spina bifida occulta, Iris coloboma	OMIM:169550
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Narrow nasal bridge, Frontal bossing, Micrognathia, Hypoplasia of the ...	OMIM:259600
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Downturn...	OMIM:619321
Wars2-Related Combined Oxidative Phosphorylation Defect	Thin upper lip vermilion, High palate, Wide nasal bridge	ORPHA:572798
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Cerebral atrophy	OMIM:261680
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hypoxemia, Cerebellar hemisphere hypoplasia, Brachycephaly, Secondary microcephaly	ORPHA:456312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short nose, Smooth philtrum, Long philtrum	OMIM:614185
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Long nose, Narrow mouth, Bulbous nose, Gi...	ORPHA:508533
Aspartylglucosaminuria	Mandibular prognathia, Abnormality of the dentition, Carious teeth, Malabsorption, Gingival overg...	ORPHA:93
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Contractural Arachnodactyly, Congenital	Frontal bossing, Scaphocephaly, Brachycephaly, Dolichocephaly	OMIM:121050
Cohen-Gibson Syndrome	Epicanthus, Depressed nasal bridge, Patent ductus arteriosus, Wide nasal bridge, Umbilical hernia...	OMIM:617561
Fanconi Anemia	Micrognathia, Abnormal eyelid morphology, High palate, Spina bifida, Aplasia/Hypoplasia of the uv...	ORPHA:84
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia	OMIM:206900
Wrinkly Skin Syndrome	Delayed eruption of teeth, Microretrognathia, Epicanthus, Carious teeth, Wide anterior fontanel, ...	OMIM:278250
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Narrow mouth, Micro...	OMIM:617666
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia of the maxilla	ORPHA:313892
Distal Deletion 19P	Hypoplasia of the maxilla, Cleft palate, Short philtrum, Umbilical hernia, Thick eyebrow	ORPHA:96129
Asbestos Intoxication	Hypoxemia, Cyanosis, Oxygen desaturation on exertion	ORPHA:2302
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Pterygium, Brachycephaly, Abnormality of the orbital region	ORPHA:371428
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, Coloboma, Short philtrum, High palate, Chorioretinal coloboma, Ir...	OMIM:619475
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Keutel Syndrome	Calcification of the auricular cartilage, Depressed nasal bridge, Cartilaginous ossification of n...	OMIM:245150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Epicanthus, Telecanthus, Anteverted nares, Broad nasal tip, Carious teeth, Long nose, Bulbous nos...	OMIM:619522
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid...	ORPHA:513456
Kabuki Syndrome 1	Anal stenosis, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dentition, Malab...	OMIM:147920
Baller-Gerold Syndrome	Epicanthus, Turricephaly, Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Hy...	OMIM:218600
Pontocerebellar Hypoplasia Type 7	Epicanthus, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Upslanted palpebral fissure,...	ORPHA:284339
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Patent ductus arteriosus, Macroglossia, Conjunctivitis, Thick vermilion ...	ORPHA:505248
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Anteverted nares, Depressed nasal bridge...	OMIM:312870
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Frontometaphyseal Dysplasia	Micrognathia, Wide nasal bridge, Cleft palate, Oligodontia, Spina bifida occulta, Downslanted pal...	ORPHA:1826
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Parietal bossing, Agenesis of corpus callosum, Dandy-Walker malformation, Absent e...	OMIM:264090
Campomelic Dysplasia	Relative macrocephaly, Frontal bossing, Depressed nasal bridge, Spina bifida, Micrognathia, Cario...	OMIM:114290
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Sparse eyebrow, Synophrys, Brachycephaly, Thickened calvaria, Ptosis	OMIM:309583
Cowden Syndrome 5	Hypoplasia of the maxilla, Progressive macrocephaly, Micrognathia	OMIM:615108
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Degcags Syndrome	Micrognathia, Prominent nose, Synophrys, High palate, Anteverted nares, Hiatus hernia, Abnormal e...	OMIM:619488
Geleophysic Dysplasia 1	Anteverted nares, Wide mouth, Upslanted palpebral fissure, Long philtrum, Short nose, Smooth phil...	OMIM:231050
Chand Syndrome	Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnormal oral...	ORPHA:1401
Spondylocarpotarsal Synostosis Syndrome	Anteverted nares, Broad nasal tip, Cleft palate, Failure of eruption of permanent teeth, Enamel h...	OMIM:272460
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Highly arched eyebrow, Craniosynostosis, Cranial hyperostosis, Brach...	ORPHA:309282
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Micrognathia, Broad nasal tip, Wide anterior fo...	ORPHA:798
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at...	OMIM:613091
Oculo-Palato-Cerebral Syndrome	Microphthalmia, High, narrow palate, Remnants of the hyaloid vascular system, Cleft palate	ORPHA:2714
Schimke Immunoosseous Dysplasia	Microdontia, Bulbous nose, Depressed nasal bridge, Wide nasal bridge	OMIM:242900
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon...	OMIM:613805
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Underdev...	ORPHA:163746
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencepha...	OMIM:252010
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Frontal bossing, Cerebellar vermis hypoplasia, Depressed nasal bridge, A...	ORPHA:397715
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Umbilical hernia, Frontal bossing, Brachycephaly	OMIM:618188
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Cowden Syndrome 1	Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegalencephaly, Micrognathia	OMIM:158350
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Broad lateral eyebrow, Epicanthus, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of ...	ORPHA:500150
Congenital Disorder Of Deglycosylation 1	Restlessness, Oral-pharyngeal dysphagia, Microcephaly, Brachycephaly, Impaired oropharyngeal swal...	OMIM:615273
Cowden Syndrome 6	Hypoplasia of the maxilla, Progressive macrocephaly, Micrognathia	OMIM:615109
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Opsismodysplasia	Short nose, Depressed nasal bridge	ORPHA:2746
Refsum Disease	Microphthalmia, Anosmia, Ptosis	ORPHA:773
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Epicanthus, Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Wide nasal bridge, Cleft p...	ORPHA:83617
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Femoral-Facial Syndrome	Thin upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Cleft palate, Upslanted palpeb...	OMIM:134780
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D...	ORPHA:534
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Epicanthus, Depressed nasal bridge, Wide nasal bridge, High palate	OMIM:619418
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Epicanthus, Upslanted palpebral fissure, Hypoplasia of the small intestine, Sh...	OMIM:200995
Peroxisome Biogenesis Disorder 1B	Epicanthus, Wide nasal bridge, Convex nasal ridge	OMIM:601539
Myasthenic Syndrome, Congenital, 21, Presynaptic	Hyperintensity of cerebral white matter on MRI, Cyanosis, Ptosis	OMIM:617239
Diamond-Blackfan Anemia	Epicanthus, Depressed nasal bridge, Cleft soft palate, Micrognathia, Cleft lip, Wide nasal bridge...	ORPHA:124
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Pyloric st...	ORPHA:268261
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Carious teeth, High palate, Long philtrum...	ORPHA:536467
Acro-Renal-Ocular Syndrome	Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Coloboma, Choriore...	ORPHA:959
Galloway-Mowat Syndrome 3	Epicanthus, Micrognathia, Hiatus hernia, High palate, Narrow mouth, Microphthalmia, Downslanted p...	OMIM:617729
Orofaciodigital Syndrome Type 14	Microretrognathia, Telecanthus, Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth...	ORPHA:434179
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Double Outlet Right Ventricle	Narrow palpebral fissure, Cyanosis	ORPHA:3426
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta...	OMIM:309800
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Wide nose, Depressed nasal bridge, Cleft upper lip, Micrognathia, Esophageal atresia,...	ORPHA:93271
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Patent ductus arteriosus	ORPHA:290
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Depressed nasal bridge, Short lingual frenulum, Wide nasal bridge, Widely spaced teeth, Long phil...	OMIM:619479
Yunis-Varon Syndrome	Narrow nasal base, Sparse eyelashes, Anteverted nares, Premature loss of primary teeth, Micrognat...	ORPHA:3472
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Epicanthus, Aplasia of the nasal bone, Anteverte...	ORPHA:93357
Acute Interstitial Pneumonia	Hypoxemia, Cyanosis	ORPHA:79126
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:100300
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Wide nose, Abnormal dental morphology, Recurrent upper respiratory tract infections...	ORPHA:217085
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Depressed nasal ridge, Progressive ...	OMIM:271665
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Death in infancy, Cyanosis, Neonatal death	OMIM:610921
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Wide nose, Abnormal dental morphology, Recurrent upper respiratory tract infections...	ORPHA:217093
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis	ORPHA:860
Cartilage-Hair Hypoplasia	Sparse eyebrow, Sparse eyelashes, Brachycephaly	OMIM:250250
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal ethmoid bone morphology, Prominent nose, Abnormal mandible condylar process morphology, ...	ORPHA:2976
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Epicanthus, Reduced cerebral white matter volume, Microcephaly, Synophrys, Perisylvian polymicrog...	OMIM:610442
Primrose Syndrome	Epicanthus, Calcification of the auricular cartilage, Anteverted nares, Depressed nasal bridge, B...	OMIM:259050
Meier-Gorlin Syndrome 1	Death in infancy, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Cleft palate, Thick ...	OMIM:224690
Koolen-De Vries Syndrome Due To A Point Mutation	Epicanthus, Abnormal dental morphology, Prominent nasal bridge, Spina bifida, Underdeveloped nasa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Epicanthus, Abnormal dental morphology, Prominent nasal bridge, Spina bifida, Underdeveloped nasa...	ORPHA:363958
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Brachycephaly, Cerebellar hypoplasi...	OMIM:274000
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Neonatal Marfan Syndrome	High, narrow palate, Downslanted palpebral fissures, Wide nasal bridge, Micrognathia	ORPHA:284979
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Megalencephaly, Sparse eyebrow, Synophrys, Brachycephaly, Upslanted palpebral ...	ORPHA:3063
Osteogenesis Imperfecta, Type Xi	Brachycephaly	OMIM:610968
Coffin-Siris Syndrome 1	Frontal bossing, Dandy-Walker malformation, Cutis marmorata, Aggressive behavior, Microcephaly, P...	OMIM:135900
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Bifid uvula	OMIM:130070
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Thick eyebrow	OMIM:608980
Myasthenia Gravis	Acrocyanosis, Dysphagia, Ptosis	ORPHA:589
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Wide na...	OMIM:612541
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Microcephaly	ORPHA:159
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Frontal bossing, Microcephaly, Polyphagia, Brachycephaly...	ORPHA:1606
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Microcephaly	OMIM:617478
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Microcephaly, Cerebral atrophy, Death in childhood, Global brain atrophy	OMIM:618426
Smith-Lemli-Opitz Syndrome	Microretrognathia, Death in infancy, Epicanthus, Aganglionic megacolon, Dental crowding, Intestin...	OMIM:270400
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent eyebrow, Sparse eyelashes, Poor wound healing, Sparse eyebrow, Meningocele, Facial erythema	ORPHA:1010
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Prominent nasal bridge, Delayed eruption of primary teeth, C...	OMIM:133540
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Wide nasal bridge	OMIM:618569
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Patent ductus arteriosus, Cleft palate, Cleft upper lip	OMIM:600460
Mucopolysaccharidosis Type 2	Otosclerosis, Wide nose, Recurrent upper respiratory tract infections, Temporomandibular joint an...	ORPHA:580
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Spina bifida	ORPHA:1120
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Poor wound healing, Hydrocephalus, Brachycephaly, Abnormal temper tantrums, Hypoplasia of the cor...	ORPHA:2072
Aicardi-Goutières Syndrome	Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh...	ORPHA:51
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Prominent nose, Deep philtrum, Synophrys, D...	OMIM:619503
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Epicanthus, Anteverted nares, Deep philtrum, Wide nasal bridge	OMIM:617641
Otopalatodigital Syndrome, Type Ii	Frontal bossing, Depressed nasal bridge, Spina bifida, Micrognathia, Wide anterior fontanel, Hydr...	OMIM:304120
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Microcephaly, Brachycephaly, Neuronal loss in the cerebral cortex, Plagiocephaly, Cerebral cortic...	OMIM:301072
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Brachycephaly, Attention deficit hyperactivity disorder	OMIM:618223
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft...	ORPHA:672
Turnpenny-Fry Syndrome	Frontal bossing, Cerebellar vermis hypoplasia, Microcephaly, Brachycephaly, Plagiocephaly, Narrow...	OMIM:618371
X-Linked Intellectual Disability, Armfield Type	Epicanthus, Brachycephaly, Midface retrusion, Downslanted palpebral fissures, Cerebral cortical a...	ORPHA:85276
Dominant Beta-Thalassemia	Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Upslanted palpebral fissu...	ORPHA:231226
Sepsis In Premature Infants	Jaundice, Cyanosis, Petechiae, Purpura	ORPHA:90051
Pulmonary Arteriovenous Malformation	Hypoxemia, Cyanosis, Ischemic stroke, Telangiectasia	ORPHA:2038
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Telecanthus, Hamartoma of tongue, Microg...	OMIM:615948
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Frontal bossing, Turricephaly, Craniosynostosis, Hydrocephalus, Brachycephaly, Stillbirth, Midfac...	ORPHA:95699
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly	OMIM:156400
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Ptosis, Micrognathia, Carious...	OMIM:150230
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2554
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Microphthalmia, Syndromic 6	Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula	OMIM:607932
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci...	ORPHA:464
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Iris coloboma, Bi...	ORPHA:2152
Pallister-Killian Syndrome	Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Bifid uvula, Anteverted nares, ...	OMIM:601803
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, Macroglossia, Choanal ...	OMIM:269150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Iris coloboma, Bifid u...	ORPHA:261537
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Anteverted nares, Bulbous nose, Wide nasal bridge, Hypoplastic nasal tip...	OMIM:157800
Ethylene Glycol Poisoning	Cyanosis, Addictive alcohol use, Cerebral edema	ORPHA:31826
Eosinophilic Granulomatosis With Polyangiitis	Cutis marmorata, Urticaria, Dysphagia, Acrocyanosis, Purpura	ORPHA:183
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Secondary microcephaly, Brachycephaly, Progressive microcephaly, Midface retrusion	OMIM:616263
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia, Delayed eruption of primary teeth	OMIM:300952
Frank-Ter Haar Syndrome	Flat occiput, Downslanted palpebral fissures, Brachycephaly, Hypoplasia of the corpus callosum	OMIM:249420
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Iris coloboma, Bifid u...	ORPHA:261552
Knobloch Syndrome 1	Occipital encephalocele, Epicanthus, Telecanthus, Absent septum pellucidum, Microcephaly, Polymic...	OMIM:267750
Pitt-Hopkins Syndrome	Aggressive behavior, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Upslanted palpebral...	ORPHA:2896
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Dyskeratosis Congenita	Abnormal eyebrow morphology, Esophageal stenosis, Abnormality of the dentition, Carious teeth, Ma...	ORPHA:1775
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mandibuloacral Dysplasia Progeroid Syndrome	Frontal bossing, Progeroid facial appearance, Sparse eyebrow, Brachycephaly, Death in childhood, ...	OMIM:619127
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Unilateral Polymicrogyria	Cyanosis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Pseudobulbar paralysis	ORPHA:268943
Beta-Thalassemia Major	Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Upslanted palpebral fissu...	ORPHA:231214
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Papillorenal Syndrome	Orbital cyst, Microphthalmia, Optic disc coloboma, Retinal coloboma	OMIM:120330
Trichothiodystrophy	Epicanthus, Hypoplasia of mandible relative to maxilla, Carious teeth, High, narrow palate, Bilat...	ORPHA:33364
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Léri-Weill Dyschondrosteosis	Depressed nasal bridge, Wide nasal bridge	ORPHA:240
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia	OMIM:263520
Linear Skin Defects With Multiple Congenital Anomalies 1	Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Iris coloboma, Anal atresia	OMIM:309801
Genitopatellar Syndrome	Delayed eruption of teeth, Anal stenosis, Wide nose, Prominent nasal bridge, Micrognathia, Promin...	OMIM:606170
Smith-Mccort Dysplasia 1	Hypoplastic facial bones, Dolichocephaly, Microcephaly	OMIM:607326
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract	OMIM:600145
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Williams-Beuren Syndrome	Colonic diverticula, Medial flaring of the eyebrow, Epicanthus, Anteverted nares, Depressed nasal...	OMIM:194050
Floating-Harbor Syndrome	Narrow nasal bridge, Persistence of primary teeth, Celiac disease, Carious teeth, Hypoplasia of t...	ORPHA:2044
Heterotaxy, Visceral, 1, X-Linked	Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Cerebellar hypoplasia	OMIM:306955
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Esophageal varix	ORPHA:974
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Norrie Disease	Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Hyp...	ORPHA:649
Histiocytoid Cardiomyopathy	Hydrocephalus, Cyanosis, Agenesis of corpus callosum	ORPHA:137675
Fanconi Anemia, Complementation Group R	Microphthalmia, Anal atresia, Agenesis of permanent teeth	OMIM:617244
Linear Nevus Sebaceus Syndrome	Microphthalmia, Telecanthus, Iris coloboma	ORPHA:2612
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Basal ganglia calcification, Brachycephaly, Plagiocephaly, Abnormal periv...	ORPHA:2785
Hardikar Syndrome	Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Patent ductus ...	OMIM:301068
Cockayne Syndrome Type 3	Carious teeth, Keratoconjunctivitis sicca, Microphthalmia, Enamel hypoplasia, Narrow nose	ORPHA:90324
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Cyanosis	OMIM:261740
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:221900
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Cyanosis	ORPHA:199241
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas...	OMIM:609049
Criss-Cross Heart	Cyanosis	ORPHA:1461
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Common Variable Immunodeficiency	Brachycephaly, Purpura	ORPHA:1572
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Synophrys, Depressed nasal bridge, Wide nasal bridge	ORPHA:447997
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion	OMIM:278730
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Conical tooth, Oligodontia, Hypodontia, Micro...	OMIM:308300
Esophageal Atresia	Oral aversion, Cyanosis, Dysphagia	ORPHA:1199
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Cyanosis	ORPHA:555874
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Thickened calvaria, Hypoplastic facial bones, Microcephaly	OMIM:223800
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion...	ORPHA:191
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Coloboma	ORPHA:85167
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Brachycephaly, Prominent occiput, Dysphagia, Umbil...	ORPHA:666
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Encephalocraniocutaneous Lipomatosis	Limbal dermoid, Hypoplasia of the iris, Eyelid coloboma, Microphthalmia	OMIM:613001
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia	ORPHA:293987
Syndromic Diarrhea	Villous atrophy, Gastritis, Patent ductus arteriosus, Wide nasal bridge, Colitis	ORPHA:84064
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Ischemic stroke...	OMIM:610655
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Anter...	OMIM:220111
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Microcephaly, Meningocele	ORPHA:991
Down Syndrome	Upslanted palpebral fissure, Epicanthus, Brachycephaly	OMIM:190685
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca...	OMIM:187300
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Iris co...	ORPHA:42775
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel...	OMIM:600376
Complete Atrioventricular Septal Defect	Cyanosis	ORPHA:1329
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Classical Ehlers-Danlos Syndrome	Epicanthus, Prematurely aged appearance, Poor wound healing, Dermatochalasis, Blepharochalasis, U...	ORPHA:287
Arima Syndrome	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hypoplasia of the brainstem, Occipit...	OMIM:243910
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Nocturnal lagophthalmos, Loss of e...	ORPHA:740
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Viss Syndrome	Ptosis, Prominent superficial blood vessels, Frontal bossing, Dolichocephaly, Microcephaly, Brach...	OMIM:619472
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Epicanthus, Wide nasal bridge, Narrow palate, High palate, Occipital meningocele	OMIM:276820
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Fibrous Dysplasia Of Bone	Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal mandible morpho...	ORPHA:249
Aspartylglucosaminuria	Microcephaly, Brachycephaly, Cerebral atrophy, Angiokeratoma corporis diffusum, Thickened calvaria	OMIM:208400
Atrial Septal Defect, Ostium Primum Type	Cyanosis	ORPHA:99106
Pulmonary Alveolar Microlithiasis	Hypoxemia, Cyanosis, Oxygen desaturation on exertion	ORPHA:60025
Marfan Syndrome	Micrognathia, Abnormal zygomatic bone morphology, Meningocele, Dolichocephaly, Retrognathia	ORPHA:558
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Phace Association	Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia, Horner syndrome	OMIM:606519
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fanconi Anemia, Complementation Group F	Microphthalmia, Patent ductus arteriosus, Duodenal atresia	OMIM:603467
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Anorexia, Ischemic stroke, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Poems Syndrome	Acrocyanosis	ORPHA:2905
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Blepharophimosis, Microp...	OMIM:227646
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal death, Brachycephaly	OMIM:265380
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Atrial Septal Defect, Coronary Sinus Type	Cyanosis	ORPHA:99104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Dermatomyositis	Telangiectasia of the skin, Abnormal eyelid morphology, Erythema, Acrocyanosis, Cutaneous photose...	ORPHA:221
Congenital Tracheomalacia	Cyanosis	ORPHA:95430
Penile Agenesis	Depressed nasal bridge, Rectal fistula, Tracheoesophageal fistula, Short nose, Anal atresia	ORPHA:49
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida, Lisch nodules	OMIM:162200
Atrial Septal Defect, Ostium Secundum Type	Cyanosis	ORPHA:99103
Townes-Brocks Syndrome	Rectoperineal fistula, Blepharophimosis, Patent ductus arteriosus, Anteriorly placed anus, Wide m...	ORPHA:857
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Short denta...	OMIM:182250
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge, Narrow mouth	OMIM:606721
Fanconi Anemia, Complementation Group C	Microphthalmia, Epicanthus	OMIM:227645
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Wide nasal bridge, Intestinal malrotation, Patent urachus	OMIM:618280
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Bilateral microphthalmos, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Double Outlet Left Ventricle	Cyanosis	ORPHA:3427
Absence Of The Pulmonary Artery	Cyanosis, Hypocapnia	ORPHA:980
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Frontal bossing, Cloverleaf skull, Craniosynostosis, Microcephaly, Brachycephaly, Midface retrusion	OMIM:201750
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis	ORPHA:99050
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Keratoconjunctivitis sicca, Umbilical hernia, Acrocyanosis, Ptosis	ORPHA:285
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Yunis-Varon Syndrome	Thin upper lip vermilion, Epicanthus, Sparse eyelashes, Anteverted nares, Premature loss of prima...	OMIM:216340
Congenital Tracheal Stenosis	Cyanosis	ORPHA:141127
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus	ORPHA:573278
Aortic Arch Interruption	Cyanosis	ORPHA:2299
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Eisenmenger Syndrome	Hypoxemia, Cyanosis	ORPHA:97214
Generalized Arterial Calcification Of Infancy	Cerebral calcification, Cyanosis, Encephalomalacia	ORPHA:51608
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Enamel hypoplasia	OMIM:309000
Exstrophy-Epispadias Complex	Hydrocephalus, Microcephaly, Spina bifida, Abnormality of the orbital region	ORPHA:322
Truncus Arteriosus	Cyanosis	ORPHA:3384
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Vater/Vacterl Association	Occipital encephalocele, Abnormal nasopharynx morphology, Choanal atresia, Spina bifida, Patent u...	OMIM:192350
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Goodpasture Syndrome	Cyanosis	OMIM:233450
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106
Congenital Total Pulmonary Venous Return Anomaly	Cyanosis	ORPHA:99125
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780

Histopathology

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

There is no histopathology data for Alx1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Alx1.

No publications found that use IMPC mice or data for Alx1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Alx1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Alx1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Alx1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Alx1^{tm94021(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Alx1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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