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Gene: Crkl MGI:104686

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
v-crk avian sarcoma virus CT10 oncogene homolog-like
Synonyms:
Crkol,  1110025F07Rik,  snoop

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 Crkl mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Branchial fistula, Choanal atresia, Prominent nasal bridge, Underdevelo... ORPHA:261330

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Hypotelorism, Hypoplastic nasal septum, Holoprosencephaly... OMIM:610828
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Holoprosencephaly 9
Anophthalmia, Hypoplasia of the maxilla, Single naris, Hypotelorism, Short philtrum, Holoprosence... OMIM:610829
Frontonasal Dysplasia 1
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypertelorism, Hyp... OMIM:136760
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the premaxilla, Intestinal malrot... ORPHA:2166
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Cyclopia, Absent nares,... ORPHA:990
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, High palate, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairm... OMIM:605627
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Open bite, Hypoplasia of the maxilla, Depressed na... ORPHA:1248
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hyperteloris... OMIM:609637
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:311895
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Overriding aorta, Microcephaly, Micrognathia, Cryptorchidism, Patent ductus... ORPHA:3304
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft pal... OMIM:615524
Holoprosencephaly 2
Aplasia of the nasal bone, Alobar holoprosencephaly, Hypotelorism, Holoprosencephaly, Chorioretin... OMIM:157170
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Proptosis, Midface retr... ORPHA:2776
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia,... ORPHA:261120
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypertelorism, Hypoplasia of ... ORPHA:207
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... OMIM:147250
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Microcephaly, Micrognathia, Hypertelorism, Depressed nasal ... ORPHA:1727
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... OMIM:614669
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypertelorism, Hypoplasia of the m... ORPHA:1529
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Hydroce... ORPHA:93262
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Holoprosencephaly, Hypertelorism ORPHA:2165
Whistling Face Syndrome, Recessive Form
Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Whistling appearance, Narrow mou... OMIM:277720
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Microtia, Na... ORPHA:261295
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Small for gestation... ORPHA:860
Proboscis Lateralis
Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Hol... ORPHA:141099
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Cleft palate, Proptosis, Long philtr... ORPHA:90653
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft har... ORPHA:2189
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Distal Monosomy 7Q36
Micrognathia, Non-midline cleft lip, Bulbous nose, Cleft palate, Wide mouth, Abnormal calvaria mo... ORPHA:1636
Monosomy 18P
Micrognathia, Carious teeth, Brachycephaly, Cleft palate, Wide nasal bridge, Downturned corners o... ORPHA:1598
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Triploidy
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Hypertelorism, Non-midli... ORPHA:3376
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Prominent nasal bridge, Hypoplasia of the maxilla, Protruding ear, Deeply set eye, High palate ORPHA:85279
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Midface retrus... OMIM:618737
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten... OMIM:241310
Arthrogryposis, Distal, Type 2E
Absent antihelix, Trismus, Micrognathia, Narrow mouth OMIM:121070
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypertelorism... OMIM:123500
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Frontal bossing, Macrodontia, Hypoplasia of the premaxilla, De... ORPHA:1106
Heart And Brain Malformation Syndrome
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Anteverted nares, Microcep... OMIM:616920
Lujan-Fryns Syndrome
Dental crowding, Prominent nasal bridge, Micrognathia, Abnormality of the dentition, Hypoplasia o... ORPHA:776
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
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Holoprosencephaly... OMIM:202650
Congenital Myopathy 16
Prominent nasolabial fold, Micrognathia, High palate, Narrow mouth OMIM:618524
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Conductive heari... ORPHA:79113
Axenfeld-Rieger Syndrome
Anal stenosis, Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridg... ORPHA:782
Jackson-Weiss Syndrome
Mandibular prognathia, Frontal bossing, Turricephaly, Convex nasal ridge, Hypertelorism, Hypoplas... ORPHA:1540
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Prominent nasal bridg... ORPHA:1110
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Hyperteloris... OMIM:137550
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Microphthalmia, Cleft palate, Micrognathia OMIM:616570
Trisomy 18
Microretrognathia, Low-set, posteriorly rotated ears, Cyclopia, Choanal atresia, Spina bifida, Do... ORPHA:3380
Oculoauriculofrontonasal Syndrome
Encephalocele, Wide nose, Micrognathia, Underdeveloped nasal alae, Cleft lip, Bifid nasal tip, Hy... ORPHA:398156
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge OMIM:300676
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Hypertelorism, Hypoplasia of the maxilla, Hypop... ORPHA:391474
Holoprosencephaly
Flat occiput, Anophthalmia, Deep philtrum, Depressed nasal ridge, Hypotelorism, Deeply set eye, A... ORPHA:2162
Recombinant Chromosome 8 Syndrome
Posteriorly rotated ears, Ventricular septal defect, Anteverted nares, Micrognathia, Depressed na... OMIM:179613
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... OMIM:301043
Pfeiffer Syndrome
Mandibular prognathia, Cloverleaf skull, Dental crowding, Depressed nasal bridge, Choanal atresia... OMIM:101600
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Macrotia, Anal atresia ORPHA:93950
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Arthrogryposis, Distal, Type 1C
Pursed lips, Cleft lip, Cleft palate, Thin vermilion border, High palate, Narrow mouth, Retrognat... OMIM:619110
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Cleft sof... ORPHA:99772
Acalvaria
Spina bifida, Hypertelorism, Hydrocephalus, Cleft palate, Holoprosencephaly, Calvarial skull defect ORPHA:945
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Depressed nasal bridge, Craniosynostosis, Hyper... ORPHA:2117
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... OMIM:252100
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... OMIM:620107
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi... OMIM:257850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Posteriorly rotated ears, Ventricular septal defect, Choanal atresia, Microce... ORPHA:163979
Otodental Syndrome
Lens coloboma, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Anteverted nares, A... ORPHA:2791
Keipert Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Prominent nasal brid... ORPHA:2662
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Overriding aorta, Abnormal pinna morphology, Failure to thrive in infancy, Bicuspid ao... ORPHA:477817
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... ORPHA:280200
Holoprosencephaly 11
Proptosis, Holoprosencephaly, Hypotelorism OMIM:614226
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
Lambotte Syndrome
Hypertelorism, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Macrotia, Conv... OMIM:245552
Charlie M Syndrome
Micrognathia, Hypertelorism, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermi... ORPHA:1406
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anteverted nares, Cleft upper lip, ... ORPHA:915
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, High palate, Thick upper lip vermilion, A... ORPHA:560
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Micrognathia, Prominent nose, Narrow mouth, Broad nasal tip, Hypertelor... OMIM:617755
Giacheti Syndrome
Hypotelorism OMIM:612917
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... OMIM:602483
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, Widely spaced teeth, Hig... OMIM:612530
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... OMIM:619981
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Low-set, posteriorly rotated ears, Encephalocele, Micrognathia, Hypertelor... ORPHA:1908
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Hypoplasia of the m... ORPHA:1307
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Mic... ORPHA:1703
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Clef... ORPHA:261236
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the nose, Whistling appearance, P... ORPHA:1150
Frontoocular Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Narrow philtrum, Hypotelorism, Pr... OMIM:605321
Burn-Mckeown Syndrome
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Cleft upper lip, Micrognathia, Un... OMIM:608572
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Hypertelorism, Depressed nasal ridge, Wide nasal ... ORPHA:2412
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpho... ORPHA:245
Holoprosencephaly 14
Frontal bossing, Median cleft lip, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueduc... OMIM:619895
8Q22.1 Microdeletion Syndrome
Underfolded helix, Abnormal pinna morphology, Craniosynostosis, Abnormality of the dentition, Hyp... ORPHA:178303
Atelosteogenesis, Type Iii
Frontal bossing, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cleft palate, P... OMIM:108721
Lowry-Maclean Syndrome
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... ORPHA:2409
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Micrognathia, Hypertelorism, Velopharyngeal insufficiency, Depressed n... OMIM:608363
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Conductive hea... ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 26
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Deep philtrum, Brachycepha... OMIM:615834
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... OMIM:619452
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Decreased response to growth hormone stimulati... OMIM:220210
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear OMIM:618302
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Hypoplasia of th... OMIM:620157
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, ... OMIM:167730
2Q32Q33 Microdeletion Syndrome
Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathia, Brachycephaly, Cleft pal... ORPHA:251019
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Depressed nasal bridge, Micrognathia, Bulbous nose, Thin vermilion border, Low-set ears, Narrow m... OMIM:618766
Dysostosis, Stanescu Type
Narrow nasal bridge, Abnormal dental enamel morphology, Convex nasal ridge, Abnormality of the de... ORPHA:1798
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow mouth, Malar flat... ORPHA:93946
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Patent duct... OMIM:601927
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypertelorism, Cleft palate, Glossoptosis, Malar... ORPHA:1388
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Bifid uvula, Clo... ORPHA:87
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate, Deeply set eye, ... ORPHA:457365
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia ORPHA:141152
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Downturned corne... ORPHA:1895
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Wi... OMIM:601499
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition ORPHA:3104
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Ab... ORPHA:1104
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Deeply set eye, Atrial septal defect, Pulmonary artery at... OMIM:618316
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Frontal bossing, Posteriorly rotated ears, Microcephaly, Sensorineural hearing impairment, Bulbou... OMIM:615219
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Brachycephaly, High palate, Short no... OMIM:218000
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Prominent superficial veins, Left atrial enlargement, Convex nasal ridge, Micr... OMIM:614008
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Hypomandibular Faciocranial Dysostosis
Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic di... ORPHA:1790
Alazami-Yuan Syndrome
Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Prominent nose, Underdeveloped... OMIM:617126
Warburg Micro Syndrome 1
Anteverted nares, Micrognathia, Wide nasal bridge, Deeply set eye, Thin vermilion border, Low-set... OMIM:600118
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Hypertelorism, Hypoplasia of the maxilla, Se... OMIM:109120
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Hypertelorism, Brachycephaly, Abnormal tragus mo... ORPHA:66625
Meier-Gorlin Syndrome 8
Micrognathia, Microtia, Thick vermilion border, Low-set ears, Narrow mouth OMIM:617564
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, T... ORPHA:293939
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hyper... ORPHA:950
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Hypertelorism, Car... ORPHA:50814
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum, Midf... OMIM:619142
Mmep Syndrome
Mandibular prognathia, Microphthalmia, Median cleft lip, Orofacial cleft ORPHA:3434
Acrofacial Dysostosis Syndrome Of Rodriguez
Posteriorly rotated ears, Prominent nose, Micrognathia, Wide anterior fontanel, Hypertelorism, Wi... OMIM:201170
Temtamy Syndrome
Micrognathia, Hypertelorism, Thick lower lip vermilion, Low-set ears, Dolichocephaly, Chorioretin... ORPHA:1777
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Deeply set eye, Hypotelorism ORPHA:276422
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... OMIM:612422
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo... ORPHA:363417
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cle... OMIM:613885
Trisomy 1Q
Microretrognathia, Frontal bossing, Wide nose, Anophthalmia, Depressed nasal bridge, Hyperteloris... ORPHA:261344
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Microcephaly, Underdeveloped nasal alae, Cryptorch... OMIM:192430
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Abnormal pinna morphology, Hypertelorism, Orofacial cleft, Wide mouth, ... OMIM:614583
Trisomy 13
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Sensorineural ... ORPHA:3378
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Stapes ankylosis, Anteverted nares, Intestinal malrotation, Hypertelori... OMIM:614701
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Hypertelorism, Brachycephaly, Plagiocephaly, High palate, Short philtru... OMIM:615433
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial palsy, Myofiber di... OMIM:619424
Angelman Syndrome
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... OMIM:105830
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia ORPHA:2975
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Micrognathia, Cleft upper lip, Hypertelorism, Cleft palate, Microtia, Bifid nose... OMIM:239800
Weill-Marchesani Syndrome 2
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Patent... OMIM:608328
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Hypertelorism, Deeply set eye, Narrow mouth, Malar flattening OMIM:615984
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Chromosome 4Q21 Deletion Syndrome
Frontal bossing, Dolichocephaly, Hypertelorism, Narrow mouth, Sensorineural hearing impairment, D... OMIM:613509
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Depressed nasal bridge, Posteriorly rotated ears, Cleft upper lip,... OMIM:206920
Microcephaly-Capillary Malformation Syndrome
Wide nose, Hypertelorism, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Short nose, Hear... OMIM:614261
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Cleft upper lip, Hydrocephalus, Hypotelorism, Holoprosen... OMIM:264480
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Anteverted nares, Micrognathia, Dolichocephaly, Hypertelorism... OMIM:617201
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Sensorineural hearing impairm... ORPHA:49827
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Prominent nasal tip, Depressed ... ORPHA:439822
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Micrognathia, Protruding ear, Narrow mouth, Short nose, Abnormal palate morphology ORPHA:1495
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Brachycephaly, Furrowed ... ORPHA:1387
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Hypopla... ORPHA:228396
Renpenning Syndrome
Mandibular prognathia, Macrodontia, Prominent nose, High, narrow palate, Sensorineural hearing im... ORPHA:3242
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Hypotelorism, Conductive hearing impairment, Depressed ... ORPHA:794
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Midface retrusion, Depressed nasal bridge, Micrognathia, Progressive h... OMIM:613849
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Hypertelorism, Narrow mouth, Cleft palate, Thin vermilion border, Low-s... OMIM:615502
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Micrognathia, Prominent nose, Hypertelorism, Velopharyngeal insufficiency... OMIM:300978
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Orbital encephalocele, Cleft palate, Microphthalmia OMIM:164180
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia, Macrotia OMIM:600776
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Anteverted nares, Dep... ORPHA:1327
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Thin upper lip vermilion, Frontal bossing, Dental crowding, Prominent nasal ... OMIM:309520
17P13.3 Microduplication Syndrome
Frontal bossing, Wide nose, Hypertelorism, High palate, Low-set ears, Narrow mouth, Short nose ORPHA:217385
Trisomy 18P
Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Pyloric ... ORPHA:1715
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteriorly placed anus, Thickened helices, Cloverleaf skull, Anteverted nares, Depressed nasal br... ORPHA:1555
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cl... ORPHA:250999
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Microcephaly, Partial anomalous pulmonary venous return, Right aortic ... OMIM:617478
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Ventricular septal defect, Depressed nasal bridge, Hyperte... ORPHA:3426
Weill-Marchesani Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Broad skull, Patent... OMIM:277600
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology, Median cleft palate ORPHA:2432
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Underdeveloped nasal alae, Hypoplasia of the maxilla, Hypertel... ORPHA:306542
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia OMIM:612776
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Non-Syndromic Metopic Craniosynostosis
Hypotelorism ORPHA:3366
Myopathy, Centronuclear, 5
Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula OMIM:615959
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Wide nasal ridge, Uplifted e... ORPHA:487825
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Holoprosencephaly 1
Proboscis, Alobar holoprosencephaly, Hypotelorism, Aplasia of the nose, Microphthalmia, Cyclopia,... OMIM:236100
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Hypertelorism, Hypoplasia of the maxilla, Bulbous nose, Protruding ear, Thin ve... ORPHA:481152
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Frontal bossing, Hearing impairment, Micrognathia, Hypertelorism, Macrotia, Wide nasal bridge, Na... OMIM:620250
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Posteriorly rotated ears, Micrognath... OMIM:613604
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Abnormality of the dentiti... ORPHA:193
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Wide nasal bridge, Cleft palate, Proptosis, Narrow mouth, Coronal craniosynostosis,... OMIM:614078
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Choanal atres... ORPHA:83
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
Pierpont Syndrome
Smooth philtrum, Wide nose, Posteriorly rotated ears, Broad nasal tip, Hypertelorism, Short nose,... OMIM:602342
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficien... OMIM:129400
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Posteriorly rotated ears, Small for gestational age, Ventricular septal defe... OMIM:301056
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Diastema, ... OMIM:300534
Autism Spectrum Disorder Due To Auts2 Deficiency
Anteverted nares, Micrognathia, Hypertelorism, Wide nasal bridge, Proptosis, Short philtrum, Low-... ORPHA:352490
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Frontal bossing, Small earlobe, Anteverted nares, Depressed nasal bridg... OMIM:608156
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of... ORPHA:192
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ... ORPHA:166100
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Bilateral cleft lip and palate, Pr... OMIM:619339
Schilbach-Rott Syndrome
Posteriorly rotated ears, Prominent nose, Micrognathia, Long nose, Submucous cleft hard palate, H... OMIM:164220
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal pinna morphology, Abnormal external nose morphology, Hypotelorism, Prominent occiput, Hy... ORPHA:556955
Robinow Syndrome, Autosomal Recessive 2
Frontal bossing, Anteverted nares, Cleft soft palate, Posteriorly rotated ears, Abnormality of th... OMIM:618529
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an... OMIM:601390
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Small for gestational age, Ext... OMIM:617021
Sweeney-Cox Syndrome
Flat occiput, Uplifted earlobe, Micrognathia, Brachycephaly, High palate, Short philtrum, Median ... OMIM:617746
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Bicuspid aortic valve, Micrognathia, Hypertelorism, Patent ductus arteriosus, Mitral valve prolap... ORPHA:555877
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypertelorism, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Re... ORPHA:2399
6P22 Microdeletion Syndrome
Deeply set eye, Hydrocephalus, Hypotelorism ORPHA:251046
Codas Syndrome
Delayed eruption of teeth, Atrial septal defect, Ventricular septal defect, Anteverted nares, Dep... OMIM:600373
49,Xxxxy Syndrome
Delayed eruption of teeth, Mandibular prognathia, Wide nose, Depressed nasal bridge, Abnormal den... ORPHA:96264
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Frontal bossing, Aplasia of the nasal bone, Prominent nasal bridge, Co... OMIM:601812
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Anteverted nares, Posteriorly rotated ears, Micrognath... OMIM:619941
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Microphthalmia, Smooth philtrum OMIM:614526
Neuralgic Amyotrophy
Cleft palate, Narrow mouth ORPHA:2901
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Brachycephaly, Deeply set ... OMIM:265380
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, Wide nasal b... OMIM:106260
Trisomy 17P
Wide nose, Micrognathia, Prominent nose, Hypertelorism, Hydrocephalus, Orofacial cleft, Cleft pal... ORPHA:261290
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Coloboma, H... OMIM:601357
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Wide ante... ORPHA:163649
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Frontal bossing, Micrognathia, Anteverted ears, Deep philtrum, Bulbous ... OMIM:613884
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:300845
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microti... OMIM:616462
Cohen Syndrome
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt... OMIM:216550
Pycnodysostosis
Obtuse angle of mandible, Frontal bossing, Convex nasal ridge, Delayed eruption of primary teeth,... ORPHA:763
Crisponi Syndrome
Wide nose, Anteverted nares, Micrognathia, Narrow mouth, High palate, Long philtrum ORPHA:1545
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Anteverted nares, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypo... OMIM:182212
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, High pal... OMIM:211380
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... ORPHA:2919
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Hypertelorism, Brachycephaly, Coronal cr... ORPHA:2095
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Deeply set eye, Holoprosencephaly, Micrognathia ORPHA:2570
Aarskog-Scott Syndrome
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Hypertelorism, Wide nasal bridge, C... OMIM:305400
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Deeply set eye, Microtia, Short m... OMIM:141300
Phenobarbital Embryopathy
Mandibular prognathia, Microcephaly, Hypertelorism, Abnormal nasal base norphology, Low-set ears,... ORPHA:1919
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hypertelorism, Narrow mouth, Brac... OMIM:156610
1Q21.1 Microdeletion Syndrome
Frontal bossing, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing im... ORPHA:250989
Hartsfield Syndrome
Wide nose, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Alobar ... OMIM:615465
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... OMIM:309545
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Iris coloboma, Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Ab... ORPHA:2250
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia... OMIM:170390
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Mild microcephaly, Aplasia/Hypoplasia of the gallbl... ORPHA:2255
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Hypotelorism, Narrow mouth, Microphthalmia, Anal atresia ORPHA:3469
Martsolf Syndrome 1
Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Broad ... OMIM:212720
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypertelorism, Cleft palate, Coloboma, Abnormal oral frenulum ... ORPHA:1617
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Downturned corner... OMIM:619720
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
7Q31 Microdeletion Syndrome
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Hypertelorism, Hypoplasia of the coc... ORPHA:251061
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, Hearing imp... OMIM:120433
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Cleft palate... ORPHA:96184
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... OMIM:615546
Raine Syndrome
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Choanal stenosis... OMIM:259775
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Cloverleaf skull, Micrognathia, Hypertelorism, Wide nasal bridge, Downturned cor... ORPHA:93267
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly, Hypoplasia of the thymus... OMIM:617022
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Microcephaly, Prominent nose, Wide anterior fontanel, Patent ductus... OMIM:614886
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth OMIM:270460
Marden-Walker Syndrome
Anteverted nares, Micrognathia, Hypertelorism, High, narrow palate, Narrow mouth, Pyloric stenosi... OMIM:248700
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, O... OMIM:619356
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return,... ORPHA:555874
Seckel Syndrome 2
Prominent nose, Micrognathia, Microdontia, Microphthalmia, Microglossia OMIM:606744
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Micrognathia, Wide nasal bridge, Prominent nasolabial fold, High palate, N... OMIM:601680
Skraban-Deardorff Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ... OMIM:617616
Apert Syndrome
Mandibular prognathia, Brachycephaly, Choanal stenosis, Shallow orbits, Overriding aorta, Depress... OMIM:101200
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Posteriorly rotated ears, Ventricular septal defec... OMIM:612946
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... OMIM:614188
Cofs Syndrome
Micrognathia, Abnormal nasal morphology, Sensorineural hearing impairment, Wide nasal bridge, Eve... ORPHA:1466
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Micrognathia, Long nose, High... ORPHA:1968
Faciocardiomelic Dysplasia, Lethal
Microglossia, Retrognathia, Micrognathia, Narrow mouth OMIM:227270
Craniofacioskeletal Syndrome
Absent gallbladder, Posteriorly rotated ears, Ventricular septal defect, Choanal atresia, Microce... OMIM:300712
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Arterial calcification, Coronary artery calcification, Cardiomegaly OMIM:614473
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Hypertelorism, Cleft lip, Cleft palate, Downturned corners of mouth, Pl... OMIM:618089
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Retrognat... OMIM:615706
Distal Duplication 6P
Frontal bossing, Prominent nasal bridge, Micrognathia, Aplasia/Hypoplasia of the earlobes, Abnorm... ORPHA:1745
Ring Chromosome 10 Syndrome
Frontal bossing, Aganglionic megacolon, Micrognathia, Hypertelorism, Wide nasal bridge, Abnormal ... ORPHA:1438
Feingold Syndrome 1
Accessory spleen, Posteriorly rotated ears, Ventricular septal defect, Tricuspid stenosis, Microc... OMIM:164280
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Brachycephaly, Shallow orbits, Hypertelorism, Prominent cru... OMIM:101400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Dolichocephaly, Hypoplasia of the maxilla, High, narrow pala... ORPHA:1101
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism ORPHA:1952
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... OMIM:620099
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... OMIM:604757
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Hypotelorism, Deeply set eye, Malar flattening, Spina bifida occulta, Iris... OMIM:268850
1Q21.1 Microduplication Syndrome
Frontal bossing, Hypertelorism, Cryptorchidism, Tetralogy of Fallot, Macrocephaly, Failure to thrive ORPHA:250994
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Hypertelorism, Hypotelorism, Deeply set eye, Malar flattening OMIM:618672
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... ORPHA:37553
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Proptosis, Micrognathia OMIM:166300
Glass Syndrome
Dental crowding, Conical tooth, Micrognathia, Long nose, Oligodontia, High palate, Anteverted nar... OMIM:612313
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Iris coloboma, Hypertelorism, Sensor... OMIM:243310
Crisponi/Cold-Induced Sweating Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Carious teeth, Narrow mouth, T... OMIM:272430
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Hypertelorism, Cleft palate, Abnormality ... ORPHA:1135
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Anteverted nares, Microcephaly, Micrognathia, Patent ductus arteriosus, Ab... ORPHA:2306
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Hearing impairment, Widel... ORPHA:90322
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
8Q21.11 Microdeletion Syndrome
Wide nose, Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Underdeveloped na... ORPHA:284160
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Scoliosis ORPHA:1937
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Brachycephaly, Downturned cor... ORPHA:1299
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Dolichocephaly, Hydrocephalus, ... OMIM:612651
Carpenter Syndrome 1
Depressed nasal bridge, Abnormal pinna morphology, Sagittal craniosynostosis, Micrognathia, Hypop... OMIM:201000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Deeply set eye, Sensorineural hearing impairment OMIM:608154
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Failure to thrive, Double outlet left ventricle, Ventricular septal ... OMIM:600001
Autism, Susceptibility To, X-Linked 6
Underdeveloped nasal alae, Short philtrum, Narrow mouth OMIM:300872
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Craniotelencephalic Dysplasia
Frontal encephalocele, Hypotelorism OMIM:218670
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin... OMIM:200990
Fetal Trimethadione Syndrome
Ventricular septal defect, Depressed nasal bridge, Microcephaly, Micrognathia, Brachycephaly, Tra... ORPHA:1913
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Deeply set eye, Everted lower lip ve... ORPHA:2429
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Broad... OMIM:101800
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Depressed nasal ridge, Thin vermilion border, Micrognathia, Narrow mouth ORPHA:1046
Ohdo Syndrome
Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Wide nasal bridge, Hy... OMIM:249620
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Exaggerated cupid's bow, Prominent nasal bridge, Hearing impairment, Micrognathia, Hypertelorism,... OMIM:618659
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft lip, Orofacial cleft, Hypotelorism, Aplasia of the nose, Atresia of the external aud... ORPHA:3186
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Conotruncal Heart Malformations
Hypertelorism, Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation... OMIM:217095
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Narrow mouth, Cleft palate, Hypotelorism, Deeply set eye, Low-set ears, L... OMIM:162100
Distal Deletion 13Q
Encephalocele, Hypertelorism, Anencephaly, Holoprosencephaly, Iris coloboma ORPHA:1590
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Interstitial cardiac fibrosis, Stroke, Hypertrophic cardiomyopathy, Righ... ORPHA:75249
Semilobar Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid... ORPHA:93924
Tetralogy Of Fallot
Abnormal nasal morphology, Cryptorchidism, Proptosis, Dolichocephaly, Tetralogy of Fallot ORPHA:3303
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Thin vermilion border, Proptosis, Narrow mouth, Short nose ORPHA:2370
Jacobsen Syndrome
Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Pyloric sten... OMIM:147791
Charge Syndrome
Hypoplasia of the semicircular canal, Low-set, posteriorly rotated ears, Depressed nasal bridge, ... ORPHA:138
Frontofacionasal Dysplasia
Cleft upper lip, Underdeveloped nasal alae, Hypertelorism, Brachycephaly, Orofacial cleft, Craniu... OMIM:229400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Exaggerated cupid's bow, Depressed nasal bridge, Hypertelorism, Cleft lip, Deep ... OMIM:620098
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Hyp... OMIM:619736
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Wide nose, Anteverted nares, Hypertelorism, Hypoplasia of the zygomatic bone, Lo... ORPHA:3074
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Pursed lips, Slender nose, Micrognathia, Hypertelorism, Brachycephaly, Wide nasal bridge, Short c... ORPHA:562528
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Dolichocephaly, Hypertelorism, Cleft lip, Deep philtrum, Bulb... OMIM:618571
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Frontal bossing, Dental crowding, Anteverted nares, Prominent nasal br... OMIM:618825
Simosa Craniofacial Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, Long nose, High, ... OMIM:182150
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Microtia, Thick vermilion b... OMIM:613805
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Anteverted nares, Depressed nasal ... OMIM:158170
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Hypertelorism, Deeply set eye, Adrenal insufficiency, Pulmo... ORPHA:251076
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal tongue physiology, Anteverted ears, Wide mouth, Deeply set eye, Thin vermilion border, H... ORPHA:544254
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Hypoplasia of the maxilla, S... ORPHA:2588
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal r... OMIM:620370
Cardiomyopathy, Familial Hypertrophic, 26
Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement OMIM:617047
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Cog7-Cdg
Retrognathia, Micrognathia, Narrow mouth ORPHA:79333
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Micrognathia, Narrow palate, Abnormal calvaria morphology, Proptosis, Biparietal narrowing, Narro... ORPHA:1323
Chromosome 6Q11-Q14 Deletion Syndrome
Hypotelorism, Hypertelorism, Micrognathia OMIM:613544
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Goiter, Right aortic arch, Chronic rhinitis, Hypothyroidism... OMIM:617577
Coffin-Siris Syndrome 11
Frontal bossing, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Hypertelorism, Esop... OMIM:618779
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Anteverted nares, Posteriorly rotated ears, Wide mouth, Delayed eruption... OMIM:618506
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Doli... OMIM:617752
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Oligodontia, Prominence of the zygomatic bone, Small earlobe, Exagger... ORPHA:364577
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Distal 17P13.1 Microdeletion Syndrome
Flat occiput, Prominent nasal bridge, Protruding ear, Deeply set eye, Hypoplasia of the zygomatic... ORPHA:319171
Weyers Acrofacial Dysostosis
Hypotelorism OMIM:193530
Congenital Disorder Of Glycosylation, Type Iu
Hypotelorism, Micrognathia OMIM:615042
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Brachycephaly... ORPHA:371428
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Anteverted nares, Prominent nasal bridge, Uplifted earlobe, Protruding ear, Wide mouth, Prominent... OMIM:615722
Cutis Laxa, Autosomal Recessive, Type Iia
Frontal bossing, Anteverted nares, Carious teeth, Narrow mouth, Wide anterior fontanel, High pala... OMIM:219200
Beare-Stevenson Cutis Gyrata Syndrome
Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Bifid uvula, Cloverleaf skul... OMIM:123790
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Incisor macrodontia, Hypotelorism OMIM:619719
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Microtia, Low-set ears, Narro... OMIM:613804
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Anteverted nares, Micrognathia, Bulbous nose, Cleft palate, Furrowed tongue, Narr... OMIM:615065
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia, Dolic... ORPHA:357001
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... ORPHA:1133
3Mc Syndrome 2
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Cleft upper lip, Hypertel... OMIM:265050
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Pallor, Hypertrophic cardiomy... OMIM:612989
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Hypertelorism, Scaphocephaly, W... OMIM:619989
Achard Syndrome
Broad skull, Brachycephaly, Micrognathia OMIM:100700
Maternal Phenylketonuria
Ventricular septal defect, Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Abnor... ORPHA:2209
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test... OMIM:618223
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Frontal bossing, Anteverted nares, Posteriorly rotated ears, Cranios... ORPHA:2462
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Hypertelorism, Broad nasal tip, Micrognathia ORPHA:166016
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Choriore... OMIM:234100
Alazami Syndrome
Wide nose, Depressed nasal bridge, Wide nasal bridge, Wide mouth, Deeply set eye, Thick vermilion... OMIM:615071
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Hydrocephalus, Orofac... ORPHA:3301
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Micrognathia, Widely spaced teeth, Microdontia, Microphthalmia, Macr... OMIM:619694
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Malar flattening, Abnormal zygomatic bone morphology, Hypotelorism ORPHA:2511
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Anteverted nares, Ag... ORPHA:59315
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Microcephaly, Micrognathia, Cryptorchidism, Tetralogy of Fallot, Protr... ORPHA:1166
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Intestinal malrotation, Abnormality of the den... ORPHA:2712
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Hypertelorism, Cleft palate, Downturned corners of mouth, Plagiocephaly, E... ORPHA:94066
Mesomelia-Synostoses Syndrome
Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Bulbous nose, A... ORPHA:2496
Kagami-Ogata Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill... OMIM:608149
Van Den Ende-Gupta Syndrome
Dental crowding, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypoplasia of the maxill... OMIM:600920
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal at... ORPHA:314679
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... OMIM:608670
Chromosome 1P35 Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Hypertelorism, Sensorineural he... OMIM:617930
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Patent foramen ovale, R... OMIM:616028
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Thick nasal alae, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Posteriorly rotat... ORPHA:293725
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Anteverted n... OMIM:166250
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Non-... ORPHA:1915
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly OMIM:617967
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Slender nose, Dental crowding, Deeply set eye, S... ORPHA:397695
Isolated Exencephaly
Depressed nasal bridge, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Propto... ORPHA:563612
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Hypertelorism, Abnormal nasal morphology, Hydrocephalus, Narrow mouth ORPHA:83473
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition OMIM:183400
Developmental And Epileptic Encephalopathy 87
Hypertelorism, Hypotelorism OMIM:618916
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Dental crowding, Hypertelorism, Narrow mouth, Brachycephaly, Protruding ear, Hig... OMIM:615539
Ring Chromosome 7 Syndrome
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of... ORPHA:1449
Stickler Syndrome, Type Ii
Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Sensorineural hearin... OMIM:604841
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Intestinal malrotation, Micro... ORPHA:404440
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Fanconi Anemia, Complementation Group S
Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Hypertelorism, ... OMIM:617883
Ohdo Syndrome, X-Linked
Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Micrognathia, Prominent nos... OMIM:300895
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Bulbous nose, Bilateral microphthal... ORPHA:369891
Pentasomy X
Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Hypertelorism, Patent ductus arter... ORPHA:11
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Facial palsy, Craniosynostosis, Hypertelorism, Optic atrophy, Brachycephaly, Macroceph... ORPHA:178377
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Thickened helices, Patent foramen ovale, Hypertelorism, Cryptorchidism, Pat... OMIM:617506
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... OMIM:216300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Micrognathia, Hydrocephalus, Depressed nasal ridge, Wide mouth, Short philtrum, ... ORPHA:163966
Developmental And Epileptic Encephalopathy 70
Hypertelorism, Low-set ears, Narrow mouth OMIM:618298
Temtamy Syndrome
Frontal bossing, Dental crowding, Micrognathia, Lop ear, Hypertelorism, Hypoplasia of teeth, Low-... OMIM:218340
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Rieger anomaly, Micrognathia, Wide nasal bridge, Deeply set eye, High p... OMIM:270450
Freeman-Sheldon Syndrome
Abnormality of the dentition, Underdeveloped nasal alae, Narrow mouth, Hypertelorism, Depressed n... ORPHA:2053
Combined Oxidative Phosphorylation Deficiency 31
Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose, Wide mouth, Deeply set eye,... OMIM:617228
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Cleft palate, Low-set ears, Narro... OMIM:251230
Peripheral Cone Dystrophy
Optic disc pallor, Optic atrophy, Pallor OMIM:609021
Nance-Horan Syndrome
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Abnormality of the dentition, Supe... ORPHA:627
Acute Peripheral Arterial Occlusion
Leukocytosis, Stroke, Pallor ORPHA:90064
Liang-Wang Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Gingival overgrowth, Wide nasal bridge, Downtu... OMIM:618729
Sandestig-Stefanova Syndrome
Wide nasal bridge, Orofacial cleft, High palate, Low-set ears, Angulated antihelix, Trigonocephal... OMIM:618804
Yuan-Harel-Lupski Syndrome
Wide nose, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction velocity,... OMIM:616652
Stevenson-Carey Syndrome
Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Pierre-Robin sequence, Bra... OMIM:611961
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Posteriorly rotated ears, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Aspl... OMIM:619657
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Distal Triplication 15Q
Craniosynostosis, Large for gestational age, Micrognathia, Hypertelorism, Sensorineural hearing i... ORPHA:314588
Cree Mental Retardation Syndrome
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Hypertelorism, Brachycephaly, Coloboma... OMIM:606851
Fetal Valproate Spectrum Disorder
Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Long phi... ORPHA:1906
Hypohidrotic Ectodermal Dysplasia
Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dent... ORPHA:238468
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c... OMIM:618652
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Sensorineural hearing impairmen... OMIM:122880
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Ear-Patella-Short Stature Syndrome
Microtia, third degree, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of t... ORPHA:2554
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mo... OMIM:154500
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Proptosis, Prominent nose, Micrognathia OMIM:616171
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Prominent nose, Micrognathia, Deeply set eye, High palate, Chorioretinal coloboma, Macrotia, Hype... OMIM:620194
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Micrognathia, Prominent nose, Long nose, Atrial septal defect, Atrioventricul... ORPHA:3047
Baller-Gerold Syndrome
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Malabsorption, Hypert... ORPHA:1225
Otodental Dysplasia
Delayed eruption of teeth, Coloboma, Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:166750
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Frontal bossing, Dental crowding, Narrow palate, Hyperplasia of... ORPHA:313892
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Depressed nasal bridge, Hypertelor... OMIM:122860
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Abnormality of th... ORPHA:3201
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Microglossia, Narrow mouth ORPHA:1972
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Decreased response to gr... OMIM:609053
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Small for gestational age, F... ORPHA:261311
Congenital Disorder Of Glycosylation, Type Iy
Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth, Macrotia OMIM:300934
Tetrasomy 15Q26
Microretrognathia, Hypertelorism, Patent ductus arteriosus, Cupped ear, Hypoplastic aortic arch, ... OMIM:614846
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Microcephaly, Hypertelorism... OMIM:300887
Meckel Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue,... ORPHA:564
19P13.3 Microduplication Syndrome
Posteriorly rotated ears, Micrognathia, Prominent nose, Underdeveloped nasal alae, Cleft palate, ... ORPHA:447980
Autosomal Recessive Centronuclear Myopathy
Protruding ear, High palate, Narrow mouth, Retrognathia, Bifid uvula ORPHA:169186
Digeorge Syndrome
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... OMIM:188400
Holoprosencephaly 4
Semilobar holoprosencephaly, Hypotelorism OMIM:142946
Cranioectodermal Dysplasia
Taurodontia, Abnormal dental enamel morphology, Hypotelorism ORPHA:1515
Multiple Pterygium-Malignant Hyperthermia Syndrome
Exaggerated cupid's bow, Prominent nasal bridge, Posteriorly rotated ears, Dolichocephaly, Conduc... ORPHA:2215
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Secundum atrial septal defec... OMIM:214800
Brachycephaly, Trichomegaly, And Developmental Delay
Flat occiput, Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick low... OMIM:617412
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Steinfeld Syndrome
Abnormal pinna morphology, Hearing impairment, Retinal coloboma, Aplasia of the nose, Holoprosenc... OMIM:184705
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypertelorism... OMIM:611209
Xq28 (MECP2) duplication
Depressed nasal bridge, Brachycephaly, Narrow mouth, Malar flattening, Macrotia DECIPHER:45
Frontonasal Dysplasia 3
Posteriorly rotated ears, Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Brachyceph... OMIM:613456
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Pallister-Hall Syndrome
Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Posterio... OMIM:146510
Glutathionuria
Hypotelorism OMIM:231950
Hunter-Mcalpine Craniosynostosis Syndrome
Downturned corners of mouth, Craniosynostosis, Narrow mouth OMIM:601379
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Sensorineural hearing impairment, High palate, Chorioretinal coloboma, Microphthalm... ORPHA:139471
Chromosome 6Pter-P24 Deletion Syndrome
Frontal bossing, Tented upper lip vermilion, Dental crowding, Depressed nasal bridge, Posteriorly... OMIM:612582
Acromicric Dysplasia
Anteverted nares, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Bulbous nose, Long phil... OMIM:102370
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin upper lip vermilion, Prominent nose, Hypertelorism, Oligodontia, Hypodontia, Narrow mouth, M... OMIM:618092
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Anteverted nares, Micrognathia, Sensorineural hearing impair... ORPHA:391408
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypertelorism, Hypotelorism OMIM:613192
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Hypertelorism, Decrea... OMIM:619879
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Hypotelorism OMIM:619691
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Hypotelorism, Deeply set eye, High palate, Atresia of the external auditory canal, ... OMIM:602471
Distal Deletion 19P
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... ORPHA:96129
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Ventricular septal defect, Patent ductus arteriosus, Bulbous nose, Hypotelorism,... OMIM:618330
Malan Overgrowth Syndrome
Frontal bossing, Depressed nasal bridge, Optic disc hypoplasia, Scaphocephaly, Plagiocephaly, Dee... ORPHA:420179
Bartsocas-Papas Syndrome
Median cleft lip, Micrognathia, Underdeveloped nasal alae, Cleft palate, Narrow mouth, Short nose ORPHA:1234
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Posteriorly rotated ears, Thickened helices, Narrow mouth, Bulbous nose, Sensorineural hearing im... OMIM:604314
Harrod Syndrome
Long nose, Dental malocclusion, Protruding ear, Hypotelorism, High palate, Narrow mouth ORPHA:2115
Iniencephaly
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,... ORPHA:63259
Trisomy 8Q
Low-set, posteriorly rotated ears, Micrognathia, Hypertelorism, Non-midline cleft lip, Myelomenin... ORPHA:1752
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypotelorism, Micrognathia OMIM:602418
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... ORPHA:77298
16P13.11 Microduplication Syndrome
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Transposition of the great art... ORPHA:261243
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thin upper lip vermilion, Macrodontia, Anteverted nares, Prominent nasal bridge, Micrognathia, Hy... OMIM:618443
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Prop... ORPHA:440354
Walker-Warburg Syndrome
Anophthalmia, Posteriorly rotated ears, Hydrocephalus, Submucous cleft hard palate, Cleft palate,... ORPHA:899
Feingold Syndrome Type 1
Tricuspid stenosis, Microcephaly, Micrognathia, Sensorineural hearing impairment, Patent ductus a... ORPHA:391641
Trigonocephaly With Short Stature And Developmental Delay
Small for gestational age, Ventricular septal defect, Posteriorly rotated ears, Sagittal craniosy... OMIM:314320
Intellectual Developmental Disorder, Autosomal Dominant 7
Hypotelorism, Deeply set eye, Micrognathia OMIM:614104
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching, Microcephaly OMIM:107500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Flat occiput, Dental crowding, Micrognathia, Deeply set eye, Coloboma, High palate, Short philtru... ORPHA:251028
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Hypertelori... OMIM:616977
Filippi Syndrome
Ventricular septal defect, Microcephaly, Underdeveloped nasal alae, Cryptorchidism, Optic atrophy... OMIM:272440
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Prominent nasal bridge, Micrognathia, Hypertelorism, Wide nasal bridge, Cleft palate, Glossoptosis OMIM:618356
Stromme Syndrome
Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Micrognathia, Optic nerve hypopl... OMIM:243605
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate,... ORPHA:989
8P23.1 Microdeletion Syndrome
Micrognathia, Deeply set eye, Biparietal narrowing, Atrioventricular canal defect, Cryptorchidism... ORPHA:251071
Orofaciodigital Syndrome Iii
Hypertelorism, Supernumerary tooth, Bulbous nose, Tongue nodules, Low-set ears, Microdontia, Bifi... OMIM:258850
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
Phaver Syndrome
Posteriorly rotated ears, Ventricular septal defect, Depressed nasal bridge, Aplasia/Hypoplasia o... ORPHA:2876
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect, Micrognathi... ORPHA:1918
Trisomy 12P
Turricephaly, Micrognathia, Hypertelorism, Wide nasal bridge, Cleft palate, Downturned corners of... ORPHA:1699
Mulibrey Nanism
Frontal bossing, Wide nose, Dental crowding, Depressed nasal bridge, Hypertelorism, Absent fronta... OMIM:253250
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Sensorineural hearing impairment, Lobar holoprosencephaly, Prominent occi... OMIM:618500
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Wide nasal bridge, Protruding ear, Wide mouth, E... OMIM:619595
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Partial Atrioventricular Septal Defect
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Anteverted na... ORPHA:420561
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Micrognathia, Duodenal stenosis, Microtia, Microphthalmia, Short nose ORPHA:2547
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Gingival... ORPHA:137834
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Narrow mouth OMIM:620007
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Proptosis, Holoprosencephaly ORPHA:93274
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Hype... OMIM:614424
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Hypoplasi... OMIM:139210
Hypoglossia-Hypodactylia
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Anomalous pulmonary venous return, Anomalous ... ORPHA:99104
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Convex nasal ridge, Posteriorl... OMIM:241410
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Oral Submucous Fibrosis
Trismus, Abnormal oral cavity morphology, Cheilitis, Narrow mouth ORPHA:357154
De Barsy Syndrome
Delayed eruption of teeth, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductu... ORPHA:2962
Marbach-Rustad Progeroid Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Shallow or... OMIM:619322
Distal Arthrogryposis Type 1
Narrow mouth ORPHA:1146
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Small for gestational age, Wide nas... ORPHA:3369
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Frontal bossing, Narrow nasal bridge, Micrognathia, Hypoplasia of the ... OMIM:259600
Noonan Syndrome 11
Relative macrocephaly, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Bulbous n... OMIM:618499
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Hypertelorism, Dental malocclusion, Wide mo... OMIM:610883
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Low-set ears, Doli... OMIM:619717
Cardiac-Urogenital Syndrome
Accessory spleen, Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextro... OMIM:618280
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Micrognathia, Hypertelorism, Cryptorch... OMIM:616145
Otopalatodigital Syndrome Type 2
Encephalocele, Depressed nasal bridge, Abnormal pinna morphology, Hearing impairment, Micrognathi... ORPHA:90652
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Leukocytosis, Mitral valve prolapse, Hilar lymph node enlargement, F... OMIM:620233
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Coloboma, Microphthalmia ORPHA:324416
Moebius Syndrome
Abnormal nasopharynx morphology, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia,... OMIM:157900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Failure to thrive, Ventricular septal defect, Patent ductus arteriosus, Art... ORPHA:99050
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Cryptorch... ORPHA:401935
15Q24 Microdeletion Syndrome
Smooth philtrum, Depressed nasal bridge, Prominent nasal bridge, Hearing impairment, Abnormality ... ORPHA:94065
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Micrognathia, Sensorineural hearing impairment, Hypotelorism, Downturned corners of mouth, Oligod... OMIM:616817
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Bra... OMIM:300260
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Depressed nasal bridge, Micrognathia, Hydrocephalus, C... OMIM:241800
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip, Non-midli... ORPHA:1791
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Pursed lips, Dental crowding, Abnormal auditory evoked potentials, Underde... OMIM:193700
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... OMIM:619148
Coccidioidomycosis
Pericarditis, Eosinophilia, Abnormality of the endocrine system, Broad skull, Abnormality of the ... ORPHA:228123
Desmosterolosis
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Intestinal malrotatio... ORPHA:35107
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary ar... ORPHA:99106
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Posteriorly rotated ears, Micrognathia,... ORPHA:2780
Monosomy 9P
Micrognathia, Brachycephaly, Anotia, High palate, Anteverted nares, Depressed nasal bridge, Hyper... ORPHA:261112
Fraser Syndrome 1
Cleft ala nasi, Dental crowding, Anophthalmia, Choanal stenosis, Conductive hearing impairment, H... OMIM:219000
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Anophthalmia, Delayed eruption of pri... ORPHA:90321
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Retrognathia, Cleft palate OMIM:620269
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Glossoptosis, Advanced eruption o... ORPHA:828
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Microgn... OMIM:213980
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Prominent nose, Cryptorchidism, Patent ductus arteriosus... OMIM:617516
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypotelorism OMIM:616281
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge, Microcephaly, Microgn... OMIM:618142
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Hy... ORPHA:163956
Smith-Lemli-Opitz Syndrome
Micrognathia, Biparietal narrowing, Holoprosencephaly, Advanced eruption of teeth, Iris coloboma,... ORPHA:818
Mosaic Variegated Aneuploidy Syndrome 2
Frontal bossing, Small for gestational age, Ventricular septal defect, Craniosynostosis, Microcep... OMIM:614114
Distal Duplication 5Q
Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Narrow mouth, Hyperteloris... ORPHA:96097
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Nasal polyposis, Situs inversus totalis, Asp... ORPHA:244
Li-Campeau Syndrome
Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Hypothyroidis... OMIM:619189
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Micrognathia, Microcephaly, Microcytic anemia, Hyperte... OMIM:600462
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Flat occiput, Small for gestational age, Bicuspid a... ORPHA:1596
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Mixed hearing impairment, Cleft upper lip, Hypertelorism, Brachycephaly, C... OMIM:201180
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Anteverted nares, Hypertelo... ORPHA:884
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa... OMIM:609460
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hamartoma of ton... OMIM:269860
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Frontal bossing, Wide nose, Low-set, posteriorly rotated ears, Hearing impa... ORPHA:1052
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Intestinal malrotation, Micrognathia, Hypertelorism, Bilateral cleft lip and palate... ORPHA:2001
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Posteriorly rotated ears, Underdeveloped nasal alae, Micrognat... ORPHA:264200
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Hypertelorism, Aplasia/Hypoplasia... ORPHA:1597
Zttk Syndrome
Frontal bossing, Midface retrusion, Depressed nasal bridge, Craniosynostosis, Abnormality of the ... OMIM:617140
Pfeiffer Syndrome
Mandibular prognathia, Turricephaly, Hypertelorism, Wide nasal bridge, Hypoplasia of the zygomati... ORPHA:710
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Wide nose, Anteverted nares, Depressed nasal bridge, Abnormal pinna mo... OMIM:614607
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t... OMIM:615948
Acromicric Dysplasia
Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Long philtrum, Short nose ORPHA:969
Arthrogryposis, Distal, Type 1A
Trismus, Narrow mouth, Sensorineural hearing impairment, Low-set ears, Long nasal bridge, Retrogn... OMIM:108120
Zimmermann-Laband Syndrome
Wide nose, Micrognathia, Hypertelorism, Supernumerary tooth, Bulbous nose, Sensorineural hearing ... ORPHA:3473
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
17P11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Abnormal dental morphology, Micrognathia, Open bite, Hypertelo... ORPHA:1713
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Bohring-Opitz Syndrome
Bilateral cleft palate, Anteverted nares, Depressed nasal bridge, Intestinal malrotation, Cleft u... OMIM:605039
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormality of the dent... ORPHA:228390
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microg... ORPHA:435638
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Prominent nasal bridge, Micrognathia, Carious teeth, Prominent nose, S... OMIM:214150
Non-Distal Duplication 13Q
Hypotelorism, Micrognathia ORPHA:1702
Coffin-Siris Syndrome 3
Wide nose, Anteverted nares, Depressed nasal bridge, Cleft palate, Wide mouth, Macroglossia, Dela... OMIM:614608
Vertebral Hypersegmentation And Orofacial Anomalies
Anteverted nares, Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft ... OMIM:619122
Frank-Ter Haar Syndrome
Flat occiput, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, ... OMIM:249420
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal ... OMIM:152950
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Sensorineural hearing impairment, Proptosis, Narrow mouth, Convex ... OMIM:615381
Vacterl With Hydrocephalus
Anophthalmia, Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal... ORPHA:3412
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, A... ORPHA:468631
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hypotelorism, Hydrocephalus, Retrognathia, Micrognathia OMIM:620156
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Hypertelorism, Cleft palate, Glossoptosis, ... OMIM:618021
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Wide nasal bridge, Cleft pa... ORPHA:1865
8Q12 Microduplication Syndrome
Narrow mouth, Sensorineural hearing impairment, Wide nasal bridge, Brachycephaly, Everted lower l... ORPHA:228399
Optic Atrophy 1
Optic atrophy, Pallor OMIM:165500
Marshall-Smith Syndrome
Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Choanal s... OMIM:602535
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Frontal bossing, Anteverted nares, Broad nasal tip, Thick lower... OMIM:300602
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Cupped ear, Hypoplastic nasal ... ORPHA:40366
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Geroderma Osteodysplasticum
Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Deeply set eye, Periodontitis, M... OMIM:231070
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Micrognathia, Hypertelorism, Deep philtrum, Concave nasal ridge, High palate, Low-se... OMIM:255800
Nizon-Isidor Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Hyper... OMIM:618872
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Hyperteloris... OMIM:612561
Cleidocranial Dysplasia
Delayed eruption of teeth, Mandibular prognathia, Frontal bossing, Sinusitis, Depressed nasal bri... ORPHA:1452
Nemaline Myopathy 2
Hypertelorism, Narrow mouth, Cleft palate, High palate, Low-set ears, Long philtrum OMIM:256030
Galloway-Mowat Syndrome 3
Frontal bossing, Micrognathia, Hiatus hernia, Hypertelorism, Deeply set eye, High palate, Low-set... OMIM:617729
Otopalatodigital Syndrome, Type I
Frontal bossing, Selective tooth agenesis, Hypertelorism, Absent frontal sinuses, Wide nasal brid... OMIM:311300
Perlman Syndrome
Depressed nasal bridge, Micrognathia, Large for gestational age, Cryptorchidism, Wide nasal bridg... OMIM:267000
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Anteverted nares, Broad nasal tip, Hypoplasia of the maxi... OMIM:617402
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Mandibular prognathia, Duodenal polyposis, Optic disc hypoplasia, Abnormality of canine, Microgna... ORPHA:261584
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Protruding ear, Plagi... ORPHA:85284
Tolchin-Le Caignec Syndrome
Micrognathia, Prominent nose, Hypertelorism, Sensorineural hearing impairment, Submucous cleft ha... OMIM:618971
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Fryns Syndrome
Low-set, posteriorly rotated ears, Aganglionic megacolon, Anteverted nares, Micrognathia, Hyperte... ORPHA:2059
Tetralogy Of Fallot
Tetralogy of Fallot, Proptosis OMIM:187500
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Co... ORPHA:567
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Hypertelorism, Cleft palate, Lobulate... OMIM:258860
Monosomy 13Q14
Prominent nasal bridge, Thickened helices, Micrognathia, Hypertelorism, Wide nasal bridge, Protru... ORPHA:1587
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Pulsatile tinnitus, Cerebral hemorrhage, Cranial nerve compressio... ORPHA:94080
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Optic atrophy, Coarctation of aort... OMIM:618164
Ramos-Arroyo Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Hypertelorism, ... ORPHA:1051
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia ORPHA:46532
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Wide nasal br... OMIM:180500
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Prominent nasal bridg... OMIM:613870
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D... ORPHA:3044
Teebi-Shaltout Syndrome
Turricephaly, Broad nasal tip, Underdeveloped nasal alae, High, narrow palate, Hypertelorism, Sca... OMIM:272950
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Bulbous nose, Brachycepha... OMIM:616789
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:280679
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Hypotelorism, Micrognathia ORPHA:3082
Cirrhotic Cardiomyopathy
Left ventricular hypertrophy, Right atrial enlargement, Left atrial enlargement, Cardiomegaly ORPHA:57777
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Coloboma, Microphthalmia OMIM:610125
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Epistaxis, Recurrent pharyngitis, Mediastinal lymphadenopathy, ... ORPHA:397
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Anteverted nares, Uplifted earlobe, Hypertelorism, Cleft palate, Furr... OMIM:616449
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hypotelorism OMIM:618718
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Depressed nasal bridge, Hypertelorism, Microtia, Narrow mouth, Intestinal ly... OMIM:616006
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Protruding tongue, Sensorineural hearing impairment, Hydrocephalus, Alveolar ri... OMIM:612938
Noonan Syndrome 8
Relative macrocephaly, Left ventricular hypertrophy, Ventricular septal defect, Large for gestati... OMIM:615355
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Microcephaly, Micr... ORPHA:1926
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Anteverted nares, Micrognathia, Hypertelorism, Wide anterior fontanel, ... OMIM:619135
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Frontal bossing, Abnormal pinna morphology, Narrow mouth, Trigonocephaly, Mala... OMIM:177980
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis OMIM:615542
Benign Samaritan Congenital Myopathy
Hypertelorism, Wide nasal bridge, Dolichocephaly, Narrow mouth ORPHA:324581
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Weight loss, Ascend... ORPHA:449400
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Fibrochondrogenesis 1
Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Narrow mout... OMIM:228520
Leopard Syndrome 3
Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Sensorineural hearing impairment... OMIM:613707
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Slender nose, Micrognathia, Brachycephaly, Wide mouth, Low-set ears, Sh... OMIM:615419
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor ORPHA:79283
Ayme-Gripp Syndrome
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Depressed nasal bridge, Posteri... OMIM:601088
Hallermann-Streiff Syndrome
Natal tooth, Frontal bossing, Choanal atresia, Abnormality of the dentition, Micrognathia, High, ... ORPHA:2108
Luo-Schoch-Yamamoto Syndrome
Wide nose, Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Hypertelorism, Wi... OMIM:619460
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Microcephaly, Patent ductus arteriosus, Sensorineural hearing impairment, Coarctation of aorta, I... ORPHA:17
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Hypertelorism, Downturned cor... OMIM:613443
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Cleft upper lip, Hiatus hernia, Malabsorption... ORPHA:50
Lymphedema, Primary, With Myelodysplasia
Hypotelorism OMIM:614038
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Microcephaly, Broa... ORPHA:3306
Braddock Syndrome
Hypotelorism, Micrognathia ORPHA:52047
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Micrognathia, Hypoplasia of teeth, Proptosis, High palate, N... OMIM:608612
Down Syndrome
Atrial septal defect, Redundant neck skin, Ventricular septal defect, Aganglionic megacolon, Atri... OMIM:190685
Trichothiodystrophy 3, Photosensitive
Eclabion, Natal tooth, Carious teeth, Pyloric stenosis, Hypotelorism, Low-set ears, Trigonocephal... OMIM:616395
Tetraploidy
Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Hypoplasia of the ear cartilage... ORPHA:3305
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hypertrophic cardiomyopathy, Failure to thrive, Pallor OMIM:613561
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Cutis Laxa, Autosomal Recessive, Type Iib
Hypertelorism, Hydrocephalus, Hypotelorism, Deeply set eye, Malar flattening OMIM:612940
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Micrognathia, Long nose, Cleft palate, Protruding ear, High palate, Low-set ears, Narrow mouth, R... OMIM:301091
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Cleft palate, Protruding ear, Plagio... ORPHA:1973
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypotelorism OMIM:618974
Orofaciodigital Syndrome Xv
Anteverted nares, Hypertelorism, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobula... OMIM:617127
Suleiman-El-Hattab Syndrome
Microretrognathia, Optic disc pallor, Ventricular septal defect, Microcephaly, Hypertelorism, Cry... OMIM:618950
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Overhanging nasal tip, Cleft soft palate, Prominent nasal bridge, Dol... OMIM:615582
Alg3-Cdg
Abnormal pinna morphology, Microcephaly, Abnormality of the nose, Abnormality of the endocrine sy... ORPHA:79321
Microphthalmia, Syndromic 13
Anteverted ears, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors OMIM:300915
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left coronary artery from the... ORPHA:2326
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Anal atresia, Abnormal dental morphology, Abnormal dental enamel morphology, Mic... ORPHA:85199
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Choanal atres... OMIM:129900
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Hearin... OMIM:274300
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Thin upper lip vermilion, Dental crowding, Anteverted nares, Choanal atresia, Narrow nose, Poster... OMIM:301044
Joubert Syndrome 18
Lobulated tongue, Occipital encephalocele, Retrognathia, Cleft palate OMIM:614815
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Pallor, Hypothyroidism, Hyperplasia of the maxilla, H... ORPHA:231226
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Pallor... ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Posteriorly rotated ears, Protruding tongue, Broad nasal tip, Hypertelorism, Sub... OMIM:618106
Monosomy 18Q
Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, C... ORPHA:1600
Chromosome 8Q21.11 Deletion Syndrome
Exaggerated cupid's bow, Micrognathia, Underdeveloped nasal alae, Hypertelorism, Sensorineural he... OMIM:614230
Fibrochondrogenesis
Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide anterior fontanel, Cleft palate, Pl... ORPHA:2021
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Co... OMIM:180849
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Posteriorly rotated ears, Choanal atresia, Optic nerve hypoplasia, Cleft upper l... OMIM:607597
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Microcephaly, Neutropenia, Central hypothyroidism, ... ORPHA:1667
Trigonocephaly 1
Hypotelorism OMIM:190440
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Deep... OMIM:618381
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Encephalocele, Hamartoma of tongue, Prominent nose, Hypertelorism... OMIM:616300
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Depressed nasal bridge, Abnormal dental enamel morphology, Hypertelorism, Hydroc... ORPHA:1812
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Micrognathia, Abnor... OMIM:245600
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
Microphthalmia, Syndromic 6
Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Macrotia, Brachycephaly, ... OMIM:607932
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Optic nerve hypoplasia, Microg... ORPHA:363686
Johnson Neuroectodermal Syndrome
Failure to thrive, Facial palsy, Choanal atresia, Microcephaly, Carious teeth, Bulbous nose, Anos... ORPHA:2316
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Prominent nasal bridge, Micrognathia, Orofacial cleft, Wide mouth, Widely-spaced maxillary centra... ORPHA:502434
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Intellectual Developmental Disorder, Autosomal Recessive 5
Hypertelorism, Hypotelorism OMIM:611091
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic disc hypoplasia, Optic nerve hypoplasia, Broad nasal tip, Hypopla... ORPHA:79345
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... OMIM:612292
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... ORPHA:3145
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Hypertelorism, Hydrocephalus, Large earlobe, Microphthalmia, Smooth philtrum OMIM:602501
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Narrow mouth,... OMIM:224410
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Non-midline cleft lip, Sensorineural hearing impairment, ... ORPHA:2549
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly, Hypotelorism ORPHA:2163
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Pallor, Hyperinsulinemic h... ORPHA:276575
Spastic Paraplegia 50, Autosomal Recessive
Mandibular prognathia, Wide nasal ridge, Bulbous nose, Wide mouth, High palate, Short philtrum OMIM:612936
Fraser Syndrome
Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial cleft, High palate, Conductive hearing i... ORPHA:2052
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bifid nasal tip, Unilateral microphthalmos, Bilateral cleft lip and pal... OMIM:618874
Galloway-Mowat Syndrome
Hypotelorism, Hypertelorism, Aqueductal stenosis, Micrognathia ORPHA:2065
Microphthalmia, Isolated, With Coloboma 6
Coloboma OMIM:613703
Down Syndrome
Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, C... ORPHA:870
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Hypertelor... OMIM:603457
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Hypertelorism, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short ph... OMIM:617333
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna morphology, Uplifted earlobe... OMIM:618580
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Depressed nasal bridge, Hypertelorism, Rectal prolapse, Sensorineural ... OMIM:235510
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Micrognathia, Aqueductal stenosis, Brachycephaly, Hypotelorism, High palat... OMIM:619512
Rhizomelic Chondrodysplasia Punctata, Type 2
Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, Submucous cleft h... OMIM:222765
Bartsocas-Papas Syndrome 1
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Underdeveloped nasal ala... OMIM:263650
Uruguay Faciocardiomusculoskeletal Syndrome
Wide nose, Posteriorly rotated ears, Prominent nose, Everted lower lip vermilion, Thick vermilion... OMIM:300280
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Hypertelor... OMIM:614105
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Bilateral cleft lip and palate, Chorioretinal coloboma, Microph... ORPHA:1473
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defe... ORPHA:284169
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Pallor,... ORPHA:276580
Meier-Gorlin Syndrome 1
Frontal bossing, Incomplete partition of the cochlea type II, Micrognathia, Hypoplasia of the max... OMIM:224690
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Depressed nasal bridge, Micrognathia, Protruding tongue, Malabsorpti... OMIM:242860
Meier-Gorlin Syndrome 3
Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Hypoplasia of ... OMIM:613803
Cyclic Vomiting Syndrome
Cardiomyopathy, Microcephaly, Pallor, Hearing impairment OMIM:500007
Halperin-Birk Syndrome
Hearing impairment, Micrognathia, Thick vermilion border, High palate, Semilobar holoprosencephaly OMIM:618651
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morpho... OMIM:305100
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Coarctation of aorta, Macrocephaly, Abnormal aortic morphology, Tricus... ORPHA:2396
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Depressed nasal bridge, Anteverted nares, High, narrow palate, Bulbous nose, Thick lower lip verm... OMIM:617268
Joubert Syndrome 37
Frontal bossing, Wide nose, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Wide nasal... OMIM:619185
3C Syndrome
Frontal bossing, Ventricular septal defect, Abnormal mitral valve morphology, Depressed nasal bri... ORPHA:7
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Hypertelorism, Narrow... OMIM:601353
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Hypertelorism, Thick lower lip ver... ORPHA:2563
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hydrocephalus, Thickened ears, Oro... ORPHA:77301
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypotelorism OMIM:615760
Gombo Syndrome
Microphthalmia OMIM:233270
Desbuquois Dysplasia 1
Microretrognathia, Depressed nasal bridge, Narrow mouth, Concave nasal ridge, Proptosis, Long phi... OMIM:251450
Lessel-Kubisch Syndrome
Narrow nasal bridge, Narrow mouth OMIM:618681
2Q23.1 Microduplication Syndrome
Hypotelorism ORPHA:313947
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Al-Raqad Syndrome
Thin upper lip vermilion, Deeply set eye, Low-set ears, Narrow mouth, Short nose OMIM:616459
Chromosome 5Q12 Deletion Syndrome
Frontal bossing, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Prominent nos... OMIM:615668
Mend Syndrome
Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia, Asymmetry of the mouth... ORPHA:401973
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arte... OMIM:601186
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Beta-Thalassemia Major
Extramedullary hematopoiesis, Pallor, Hypothyroidism, Hyperplasia of the maxilla, Hypoparathyroid... ORPHA:231214
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Short lingual frenulum, Prominent nasal bridge, Posteriorly rotated ear... OMIM:617360
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Parietal bossing, Patent foramen ovale... OMIM:619343
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Microcepha... ORPHA:500159
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Sacral dimple, Ventricular septal defect, Scoliosis OMIM:608227
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Frontal bossing, Anal stenosis, Depressed nasal bridge, Optic nerve hyp... OMIM:620029
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Se... ORPHA:52055
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Craniosynostosis,... ORPHA:2953
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Microdontia, Microphthalmia ORPHA:3191
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Hypertelorism, High palate, Narrow mouth OMIM:616866
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left... OMIM:605376
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, Oligodontia, Fused teeth, Bifid uvula, Iris coloboma, Persistence ... OMIM:300166
Adams-Oliver Syndrome 2
Depressed nasal bridge, Micrognathia, Hypertelorism, Bulbous nose, Hydrocephalus, Protruding ear,... OMIM:614219
2P15P16.1 Microdeletion Syndrome
Prominent nasal bridge, Optic nerve hypoplasia, Narrow mouth, Brachycephaly, Wide nasal bridge, P... ORPHA:261349
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Hypertelorism, Gingival o... ORPHA:561
Leber Congenital Amaurosis 14
Optic disc pallor, Pallor OMIM:613341
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Ventricular septal defect, Vascular ring, Macrocephaly, Atrial septal defect OMIM:603387
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... OMIM:613759
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypertelorism, Wide nasal bridge, Wide ... OMIM:602562
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Anteverted nares, Depressed nasal bridge, Hypertelorism, Deep philtrum, Sensorineural hearing imp... ORPHA:1825
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormal vena cava morp... ORPHA:1677
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Micrognathia, Hypertelorism, Narrow mouth, Wide nasal bridge, Plagiocepha... OMIM:613457
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Microcephaly, Atrial septal defect, Histiocytoid car... OMIM:309801
Thrombocytopenia 6
Deeply set eye, Hypotelorism OMIM:616937
Congenital Heart Defects And Skeletal Malformations Syndrome
Frontal bossing, Dental crowding, Intestinal malrotation, Narrow nose, Carious teeth, Long nose, ... OMIM:617602
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... OMIM:249270
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Failure to thrive, Flat occiput, Abnormal pinna morphology, Ventricular septal defect, Prominent ... OMIM:617452
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Microdontia, Microphthalmia, He... ORPHA:2728
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Malabsorption, Micrognathia, Protruding tong... ORPHA:2268
Nemaline Myopathy 9
Ventricular septal defect, Scoliosis OMIM:615731
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, Deeply set eye, High palate, Short philtrum, ... OMIM:619312
Cat-Eye Syndrome
Hypertelorism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Anal atresia, Hearing impai... ORPHA:195
Cerebrooculofacioskeletal Syndrome 2
Prominent nose, Micrognathia, Deeply set eye, Microphthalmia, Convex nasal ridge, Hearing impairment OMIM:610756
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, High palate... ORPHA:2510
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor, Hyperinsulinemic hypoglycemia, Excessive insulin response to g... ORPHA:276556
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Frontal bossing, Depressed nasal bridge, Abnormal pinna morphology, Hamartoma of ton... OMIM:617925
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Antevert... OMIM:607812
Deafness-Craniofacial Syndrome
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae,... ORPHA:3241
Teebi Hypertelorism Syndrome 1
Frontal bossing, Natal tooth, Ventricular septal defect, Anteverted nares, Sagittal craniosynosto... OMIM:145420
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Weight l... ORPHA:3226
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Macrotia, Mulberry molar, Supernumerary maxilla... OMIM:302350
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... OMIM:615996
Atelis Syndrome 1
Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Leukopenia, Microtia,... OMIM:620184
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Underdeveloped nasal alae, Abnormal aortic... ORPHA:2516
Acrootoocular Syndrome
Delayed eruption of teeth, Grayish enamel, Micrognathia, Supernumerary tooth, Dental malocclusion... ORPHA:2980
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Hypertelorism, Wide nasal bridge, Protruding ear, Hypoplasia of the zygoma... ORPHA:1778
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Intestinal malrotation, Micro... OMIM:244450
Gand Syndrome
Thin upper lip vermilion, Broad nasal tip, Hypertelorism, Wide nasal bridge, Wide mouth, Deeply s... OMIM:615074
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Dental crowding, Anteverted nares, Prominent nasal bridge, Asymmetry of th... ORPHA:3063
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Narrow mouth, Brachycephaly, Deeply set eye, Long philt... OMIM:615663
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Large for gestational age, Brachycephaly, Conductive hearing impairment, Depres... OMIM:280000
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Hearing impairment, Micrognathia, B... OMIM:309500
Cousin Syndrome
Frontal bossing, Posteriorly rotated ears, Micrognathia, Hypertelorism, Hydrocephalus, Alveolar r... OMIM:260660
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Micrognathia ORPHA:99742
W Syndrome
Depressed nasal bridge, Broad nasal tip, Hypertelorism, Submucous cleft hard palate, Agenesis of ... ORPHA:2804
Mycophenolate Mofetil Embryopathy
Micrognathia, Hypertelorism, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Anotia, M... ORPHA:268249
Ablepharon Macrostomia Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, W... ORPHA:920
Bangstad Syndrome
Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deeply ... ORPHA:1227
Hernández-Aguirre Negrete Syndrome
Wide mouth, Bulbous nose, Deep philtrum, Low-set, posteriorly rotated ears ORPHA:2139
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Spina bifida, Micrognathia, Hydrocephalus, Bilateral microphthalmos, M... ORPHA:2839
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
Stickler Syndrome, Type I
Anteverted nares, Depressed nasal bridge, Micrognathia, Sensorineural hearing impairment, Submuco... OMIM:108300
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Hypotelorism OMIM:603585
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Uplifted earlobe, Mic... OMIM:616734
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Iris coloboma, ... ORPHA:955
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Abnormal pinna morphology, Protruding tongu... OMIM:610253
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Micro... ORPHA:904
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Frontal bossing, Lip pit, Hypertelorism, Brachycephaly, Large earlobe, Hyp... ORPHA:1236
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Ventricular septal defect, Prominent nasal ... ORPHA:457193
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Hypotelorism OMIM:618622
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Brachycephaly, W... OMIM:613451
Branchiooculofacial Syndrome
Anophthalmia, Micrognathia, Conductive hearing impairment, Hypoplastic superior helix, Iris colob... OMIM:113620
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... ORPHA:3253
Lambert Syndrome
Wide mouth, Malar flattening OMIM:245550
Meacham Syndrome
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... OMIM:608978
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... ORPHA:1782
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Posteriorly rotated ears, Hearing impairment, High, narrow palate, Bulb... OMIM:618494
Verheij Syndrome
Ventricular septal defect, Small for gestational age, Optic nerve hypoplasia, Microcephaly, Antev... OMIM:615583
Baller-Gerold Syndrome
Micrognathia, Brachycephaly, Anteriorly placed anus, High palate, Choanal stenosis, Conductive he... OMIM:218600
Toluene Embryopathy
Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal... ORPHA:1920
Keutel Syndrome
Wide nose, Ventricular septal defect, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonar... ORPHA:85202
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Microcephaly OMIM:614249
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi... OMIM:613717
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, H... ORPHA:2107
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Hypertelorism, Cryptorchidism, Pa... ORPHA:329224
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Hypertelorism, Carious teeth, Micrognathia, Glossoptosis, Hearing impairment ORPHA:93346
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Sensorineural hearing im... ORPHA:1131
Warburg Micro Syndrome 3
Micrognathia, Brachycephaly, Narrow palate, Downturned corners of mouth, Microphthalmia, Short no... OMIM:614222
Ververi-Brady Syndrome
Wide nose, Microcephaly, Prominent nose, Broad nasal tip, Bulbous nose, Cupped ear, Hypertelorism... OMIM:617982
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Mixed hearing impairment,... OMIM:300990
Hartnup Disorder
Glossitis OMIM:234500
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... ORPHA:2756
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Coronal craniosynostosis... OMIM:612289
Tetrasomy 18P
Low-set, posteriorly rotated ears, Thin vermilion border, Narrow mouth, Short nose, Long philtrum ORPHA:3307
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Wide nasal bridge, Oligodontia,... OMIM:618727
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous... OMIM:619103
Fumarase Deficiency
Relative macrocephaly, Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, H... OMIM:606812
17Q23.1Q23.2 Microdeletion Syndrome
Frontal bossing, Depressed nasal bridge, Hypertelorism, Bulbous nose, Protruding ear, Widely spac... ORPHA:261279
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Patent forame... ORPHA:60041
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal columella mo... ORPHA:436003
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Micrognathia, Convex nasal ridge, Narrow mouth ORPHA:1979
Ring Chromosome 21 Syndrome
Holoprosencephaly ORPHA:1445
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Flat occiput, Anteverted nares, Abnormal testis morphology, Microcephaly, Hype... ORPHA:96147
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Brachycephaly, Protruding ear, Hypotelorism, Deeply set eye, Oligodontia, High pala... OMIM:309590
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Abnormality of the thyroid gland, Coarctation of aort... ORPHA:1923
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Frontal bossing, Wide nose, Dental crowding, Hearing impairment, Hypert... OMIM:616078
Noonan Syndrome 2
Relative macrocephaly, Abnormal coronary artery origin, Posteriorly rotated ears, Mitral stenosis... OMIM:605275
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Ventricular septal defect, Depressed nasal bridge, Throm... OMIM:606003
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Anterior open-bite malocclusion, Abnormal autonomic nervous sy... ORPHA:83601
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Diastema, Bulbous nose, Wide mouth, Hypertelorism OMIM:618470
Alkuraya-Kucinskas Syndrome
Hypotelorism, Hypertelorism, Hydrocephalus, Micrognathia OMIM:617822
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Brachycephaly, Right ventricular d... OMIM:619472
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Micrognathia, Hypertelorism, Wide nasal bridge, Microtia, Su... ORPHA:2282
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Anteverted nares, Micrognathia, Wide nasal bridge, Narrow mouth OMIM:618810
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Cho... OMIM:601808
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypotelorism, Hypertelorism, Micrognathia OMIM:300986
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Micrognathia, External ear malformation, Cleft palate, Long ph... ORPHA:2505
White-Sutton Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hype... ORPHA:468678
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of ... ORPHA:2457
Atrial Septal Defect, Ostium Secundum Type
Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve morphology... ORPHA:99103
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hypotelorism, Dental malocclusion, Micrognathia ORPHA:329178
Duplication Of The Pituitary Gland
Encephalocele, Hypertelorism, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide ... ORPHA:314621
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Wide nose, Dolichocephaly, Hypertelorism, Abnormal columella morphology, High palate, Narrow mout... ORPHA:2463
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Microcephaly, Hypertelorism, Crypto... ORPHA:2772
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Protruding tongue, Micrognathia, Sensorineural hearing impairment, Thick vermilion bor... OMIM:608779
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Frontal bossing, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Hypertelorism, ... ORPHA:2256
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, Hypertelorism, ... OMIM:618820
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Wide mouth, Abnormal upper lip mo... ORPHA:2707
Donnai-Barrow Syndrome
Ventricular septal defect, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Wide ... ORPHA:2143
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Microcephaly, Parietal foramina... OMIM:105650
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Trigonocephaly, Hypertelorism, Cryptorc... OMIM:617159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Macroglossia, Hydrocephalus OMIM:613155
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Primary Lateral Sclerosis, Juvenile
Decreased compound muscle action potential amplitude, Pallor OMIM:606353
Arthrogryposis, Distal, Type 2B3
Narrow mouth OMIM:618436
Joubert Syndrome 16
Encephalocele, Coloboma, Hypertelorism OMIM:614465
15Q11.2 Microdeletion Syndrome
Abnormal pinna morphology, Ventricular septal defect, Microcephaly, Coarctation of aorta, Abnorma... ORPHA:261183
3Q29 Microduplication Syndrome
Craniosynostosis, Abnormality of the dentition, Deep philtrum, Wide nasal bridge, Cleft palate, E... ORPHA:251038
Chondrodysplasia, Blomstrand Type
Stillbirth, Depressed nasal bridge, Preductal coarctation of the aorta, Micrognathia OMIM:215045
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Venous insufficiency, Splenomegaly, ... ORPHA:2969
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Mandibular prognathia, Deeply set eye, Hypotelorism OMIM:300486
Short Stature-Micrognathia Syndrome
Hypotelorism, Retrognathia, Micrognathia OMIM:617164
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Proptosis, Hypotelorism OMIM:613174
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,... ORPHA:369950
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Hy... OMIM:614437
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Hyperteloris... OMIM:608013
Fg Syndrome Type 1
Dental crowding, Micrognathia, Prominent nose, Fused teeth, High palate, Hypertelorism, Malrotati... ORPHA:93932
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Bil... OMIM:300472
Ogden Syndrome
Microretrognathia, Frontal bossing, Ventricular septal defect, Underdeveloped nasal alae, Cryptor... ORPHA:276432
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Frontal bossing, Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdevelop... OMIM:608624
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Narrow... OMIM:102500
17Q12 Microduplication Syndrome
Microphthalmia, Deeply set eye, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Renal Tubular Dysgenesis
Hypertelorism, Tetralogy of Fallot, Microcephaly ORPHA:3033
Isolated Dandy-Walker Malformation
Prominent occiput, Frontal bossing, Tetralogy of Fallot, Platybasia ORPHA:217
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Branchial fistula, Choanal atresia, Prominent nasal bridge, Underdevelo... ORPHA:261330
Bangstad Syndrome
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins... OMIM:210740
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... ORPHA:1358
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Anal stenosis, Absence of Stensen duct, Selective tooth agenesis... OMIM:604292
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulm... OMIM:617992
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, H... OMIM:613603
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Selective tooth agenesis, Narrow nose, Cleft upper lip, Ca... OMIM:164200
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Deeply... OMIM:613680
Lelis Syndrome
Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion ORPHA:140936
Sotos Syndrome
Mandibular prognathia, Increased body weight, Atrial septal defect, Conductive hearing impairment... OMIM:117550
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
Atelis Syndrome 2
Frontal bossing, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Prominent nose,... OMIM:620185
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... OMIM:619950
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Coarctation of aorta, ... ORPHA:42775
Hereditary Acrokeratotic Poikiloderma
Turricephaly, Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, ... ORPHA:2907
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Microcep... ORPHA:209905
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Wide nose, Frontal bossing, Exaggerated cupid's bow, Anteverted nares, ... OMIM:619293
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Anteverted nares, Microcephaly, Hypertelorism, Patent ductus arteriosu... OMIM:220500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Ascen... OMIM:619503
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydr... ORPHA:1528
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta... OMIM:619227
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, Cleft upper lip, Opt... OMIM:304050
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Hypertelorism, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nost... ORPHA:1295
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb... OMIM:214300
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Depressed... ORPHA:2136
Developmental And Epileptic Encephalopathy 6B
Hypertelorism, Narrow mouth OMIM:619317
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Char Syndrome
Ventricular septal defect, Depressed nasal bridge, Supernumerary nipple, Persistence of primary t... ORPHA:46627
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dental crowding, Hearing impa... OMIM:300998
Otospondylomegaepiphyseal Dysplasia
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Sensorineural h... ORPHA:1427
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
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Pulmonic stenosis, Scoliosis, Atrial septal defect, Hypert... OMIM:615279
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Downturned corners of mouth, Anteriorly placed anus, Anteverted nares, Depressed na... OMIM:616894
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Pallor, Hyperinsuline... ORPHA:276608
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Microcephaly, Abnormality of the endocrine system, Cryptorchidism, Sensorineura... ORPHA:464288
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Microphthalmia, Micrognathia ORPHA:48431
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Protru... OMIM:156200
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Hypertelo... OMIM:311200
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypotelorism OMIM:244200
Gm1 Gangliosidosis
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Broad nasal tip, Narrow mouth, De... ORPHA:354
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Microtia, Dolic... OMIM:613800
Ritscher-Schinzel Syndrome 4
Deeply set eye, Proptosis, Hypertelorism, Hypotelorism OMIM:619435
Peters-Plus Syndrome
Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Anteriorly place... OMIM:261540
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Failure to thrive, Flat occiput, Ventricular septal defect, Wide nose, Prominent nasal bridge, Mi... ORPHA:505237
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv... OMIM:164210
Dyskeratosis Congenita
Esophageal stenosis, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Mala... ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Macrodontia, Prominent nasal bridge, Posteriorly rotated ears, Protruding ... OMIM:212066
2Q31.1 Microdeletion Syndrome
Micrognathia, Hypertelorism, Deep philtrum, Bulbous nose, Optic disc coloboma, Cleft palate, Down... ORPHA:251014
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Anteriorly placed anus, Microphthalmia ORPHA:2717
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment, Narrow mouth OMIM:132450
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Frontal bossing, Posteriorly rotated ears, Dextrocardia, Depressed nasal bridge, Supernumerary ni... OMIM:618929
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... ORPHA:324575
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Conduc... ORPHA:1071
Feingold Syndrome Type 2
Ventricular septal defect, Microcephaly ORPHA:391646
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Hyp... ORPHA:464738
Microphthalmia, Lenz Type
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Abnorma... ORPHA:568
Congenital Rubella Syndrome
Ventricular septal defect, Microcephaly, Thrombocytopenia, Patent ductus arteriosus, Sensorineura... ORPHA:290
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Depressed nasal bridge, Abnormal pinna morphology, Bulbous nose, Thick low... OMIM:300354
Spastic Paraplegia 47, Autosomal Recessive
Bulbous nose, Wide nasal bridge, Wide mouth, High palate, Short philtrum OMIM:614066
Spastic Paraplegia 52, Autosomal Recessive
Prominent nose, Hypertelorism, Bulbous nose, Wide nasal bridge, Wide mouth, Thick vermilion borde... OMIM:614067
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentiti... OMIM:618505
Emanuel Syndrome
Broad jaw, Failure to thrive, Ventricular septal defect, Delayed eruption of primary teeth, Micro... OMIM:609029
Seckel Syndrome 9
Ventricular septal defect, Small for gestational age, Microcephaly, Micrognathia, Scaphocephaly, ... OMIM:616777
King-Denborough Syndrome
Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Hypertelori... OMIM:619542
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor... ORPHA:276621
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Narrow nasal ridge, Hypertelorism, Brachycephaly, Hypotelorism, Low-set ears, Na... OMIM:219150
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Lymphad... ORPHA:507
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Biemond Syndrome Type 2
Coloboma, Hydrocephalus ORPHA:141333
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Seckel Syndrome 7
Hypotelorism OMIM:614851
Smith-Lemli-Opitz Syndrome
Microretrognathia, Dental crowding, Anteverted nares, Depressed nasal bridge, Micrognathia, Agang... OMIM:270400
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Frontal bossing, Prominent nasal bridge, Hamartoma of tongue, ... ORPHA:2754
Arthrogryposis, Distal, Type 2B2
Narrow mouth OMIM:618435
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Microcephaly, Hyper... ORPHA:276413
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Microretrognathia, Low-set, posteriorly rotated ears, Abnormality of the dentiti... ORPHA:1786
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Hypertelorism, Anteriorly placed a... OMIM:248450
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Conductive hearing i... OMIM:620186
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Midface retrusion, Craniosynostosis, Micrognathia, Absent earlobe, Hypertelorism, Wide nasal brid... OMIM:130070
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Anteverted nares, Cupped ea... OMIM:618619
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Ventricular septal defect, Cryptorchidism, Secondary microcephaly, Neonatal death OMIM:613730
Retinal Dystrophy With Leukodystrophy
Hypotelorism OMIM:618863
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus arteriosus, Op... OMIM:614576
Fanconi Anemia, Complementation Group L
Micrognathia, Hypertelorism, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Cleft palate, ... OMIM:614083
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Ventricular septal defect, Abnormal pinna morphology, Microcephaly, Mi... ORPHA:3078
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Prominent nose, Pierre-R... OMIM:268305
Cardiofacioneurodevelopmental Syndrome
Hypotelorism, Hypertelorism, Micrognathia OMIM:619123
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... ORPHA:2753
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Abnormal pinna morphology, Wide mouth, Macroglossia, High palate, Short philtrum ORPHA:280384
Dermatitis, Atopic
Pallor, Dry skin, Allergic rhinitis, Facial erythema OMIM:603165
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Bulbous... ORPHA:324410
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Abnormal pinna morphology, Hypertelorism, Perianal abscess, Wide nasal ... OMIM:614684
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Wide mouth, Hypertelorism, Abnormality of mouth shape, Underdeveloped tragus ORPHA:83619
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Hypertelorism, Rectal atresi... OMIM:115470
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Micrognathia, Proptosis, Narrow mouth, Short nose, Convex nasal ridge ORPHA:90154
Lambert Syndrome
Wide mouth, Malar flattening, Branchial anomaly ORPHA:1296
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Bulbous nose, Wide mouth, Large earlobe, Thin vermilion border, Low-set ears... ORPHA:485405
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Bilateral microphthalmos, Deeply ... OMIM:610758
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Frontal bossing, Posteriorly rotated ears, Pulmonary artery sling, Coronary si... OMIM:619268
German Syndrome
Depressed nasal bridge, Micrognathia, Cryptorchidism, Brachycephaly, Wide nasal bridge, Abnormal ... ORPHA:2077
Coffin-Siris Syndrome 7
Wide nose, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect, Sagittal c... OMIM:618027
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Hypertelorism, Wide nasal bridge, Downturned corners of mouth, Wide mou... OMIM:618067
Craniofacial Dyssynostosis With Short Stature
Frontal bossing, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Brachycepha... OMIM:218350
Opitz-Kaveggia Syndrome
Dental crowding, Micrognathia, Prominent nose, Anteriorly placed anus, Simple ear, Cleft upper li... OMIM:305450
Pallister-Hall Syndrome
Depressed nasal ridge, Holoprosencephaly, Bifid uvula, Microretrognathia, Low-set, posteriorly ro... ORPHA:672
Tarp Syndrome
Meckel diverticulum, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypertelorism, Wid... OMIM:311900
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Overweight, Patent ductus arteriosus, Re... OMIM:619769
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Aortic root aneurysm, Transposition ... OMIM:619910
Pettigrew Syndrome
Mandibular prognathia, Thickened calvaria, Prominent nose, Aqueductal stenosis, Sensorineural hea... OMIM:304340
Chops Syndrome
Ventricular septal defect, Anteverted nares, Microcephaly, Hypertelorism, Cryptorchidism, Patent ... OMIM:616368
Temple-Baraitser Syndrome
Wide nose, Depressed nasal bridge, Hypertelorism, Downturned corners of mouth, Wide mouth, Short ... OMIM:611816
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Large fleshy ears, High palate, Prominent superior crus of antihelix,... ORPHA:280633
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Microcephaly, Secundum atrial septal defect, Coarctation of aorta, Dee... OMIM:600987
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Microcephaly, Prominent nasal... OMIM:617751
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, ... OMIM:618371
Noonan Syndrome 3
Atrial septal defect, Left unilambdoid synostosis, Thickened helices, Patent foramen ovale, Juven... OMIM:609942
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Arthrogryposis, Distal, Type 3
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
Warsaw Breakage Syndrome
Ventricular septal defect, Microcephaly, Hypoplasia of the cochlea, Cupped ear, Optic disc colobo... OMIM:613398
Filippi Syndrome
Frontal bossing, Wide nose, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipp... ORPHA:3255
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairm... OMIM:617306
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, ... OMIM:270100
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, Hypotelorism, Deeply set eye, Patent foramen ovale, Anteverted nares, Depressed nas... OMIM:618454
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Frontal bossing, Odontogenic keratocysts of the jaw, Spina bifida, Cleft u... OMIM:109400
Severe Intellectual Disability And Progressive Spastic Paraplegia
Everted upper lip vermilion, Bulbous nose, Wide mouth, High palate, Short philtrum ORPHA:280763
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Frontal bossing, Dental crowding, Micrognathia, High, narrow palate, Pierre-Robin sequence, Downt... ORPHA:96182
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
19P13.12 Microdeletion Syndrome
Narrow nasal bridge, Atrial septal defect, Ventricular septal defect, Anteverted nares, Craniosyn... ORPHA:254346
Focal Dermal Hypoplasia
Cleft ala nasi, Anophthalmia, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spina ... OMIM:305600
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa... OMIM:618624
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Protruding ear, Aortic root aneurysm, Abdominal obesit... OMIM:301039
Microphthalmia With Linear Skin Defects Syndrome
Wide nose, Anophthalmia, Abnormal dental enamel morphology, Hearing impairment, Micrognathia, Hyd... ORPHA:2556
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Deeply set eye, High palate, Choanal stenosis, Anteverted nares, D... OMIM:615485
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Cerebrocostomandibular Syndrome
Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Carious teeth, Cleft li... OMIM:117650
Woods Syndrome
Ventricular septal defect, Supernumerary nipple, Optic atrophy, Wide nasal bridge, Low hanging co... OMIM:615236
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Deeply set eye, Hypotelorism ORPHA:261211
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Small for gestational age, Prominent nasal bridge, Microcephaly, Super... OMIM:617635
Campomelic Dysplasia
Irregular dentition, Micrognathia, Depressed nasal ridge, High palate, Conductive hearing impairm... OMIM:114290
Orofaciodigital Syndrome V
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Microtia-Anotia
Holoprosencephaly OMIM:600674
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventricular septal defect, Micrognathia, Microcephaly, Cryptorchidism, Pat... ORPHA:452
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, P... ORPHA:75389
X-Linked Intellectual Disability, Wilson Type
Wide mouth, Brachycephaly, Thick vermilion border, Mandibular prognathia ORPHA:85290
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Feingold Syndrome 2
Ventricular septal defect, Secondary microcephaly OMIM:614326
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Anteverted nares, Choanal atresia, Posteriorly rotated ears, Micrognathia, Abnor... OMIM:616975
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia ORPHA:93316
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide mouth, Wide nose OMIM:113477
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Depressed nasal bridge, Microcephaly, Micrognathia, Hypertelorism, Pat... OMIM:617061
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Mosaic Trisomy 1
Microretrognathia, Frontal bossing, Depressed nasal bridge, Abnormal pinna morphology, Thick lowe... ORPHA:1692
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... ORPHA:95715
Galloway-Mowat Syndrome 1
Flat occiput, Narrow nasal ridge, Prominent nose, Micrognathia, Hiatus hernia, Hypertelorism, Wid... OMIM:251300
Alagille Syndrome
Frontal bossing, Ventricular septal defect, Micrognathia, Long nose, Cryptorchidism, Hyperteloris... ORPHA:52
Neu-Laxova Syndrome
Abnormality of the philtrum, Spina bifida, Micrognathia, Hypertelorism, Trismus, Macrotia, Submuc... ORPHA:2671
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Scoliosis ORPHA:357225
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Macrotia, Hypoplasia of teeth, Microphthalmia, Short nose, Retrognathia OMIM:234050
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Large for gestational age, Cardiome... ORPHA:363705
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Microcephaly OMIM:601355
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Bifid uvula, Sagittal cran... OMIM:616580
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Microcephaly ORPHA:2515
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Panhypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95513
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Depressed nasal bridge, Hypertelorism, Downturned corners of mouth, Wide mouth, Deeply set eye, T... OMIM:300860
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Thin upper lip vermilion, Posteriorly rotated ears, Broad nasal tip, Prominent ... OMIM:619194
Degcags Syndrome
Micrognathia, Prominent nose, Hypotelorism, Leukopenia, Iron deficiency anemia, Pallor, Atrial se... OMIM:619488
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Recurrent pharyngitis, Ery... ORPHA:3099
Primrose Syndrome
Calcification of the auricular cartilage, Anteverted nares, Depressed nasal bridge, Broad nasal t... OMIM:259050
Noonan Syndrome 4
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Depressed nasal bridge... OMIM:610733
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Scoliosis OMIM:616276
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
X-Linked Intellectual Disability, Seemanova Type
Small for gestational age, Microcephaly, Hypertelorism, Cryptorchidism, Retrognathia, Abnormal he... ORPHA:85323
Noonan Syndrome 13
Anteverted nares, Posteriorly rotated ears, Micrognathia, Hypertelorism, Wide nasal bridge, Wide ... OMIM:619087
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... OMIM:606164
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Wide mouth, High, narrow palate, Bulbous nose, Downturned corners of mouth OMIM:273390
Intellectual Developmental Disorder, Autosomal Recessive 79
Deeply set eye, Ventricular septal defect, Wide nasal bridge, Broad nasal tip OMIM:620393
Orofaciodigital Syndrome Vi
Posteriorly rotated ears, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Microgna... OMIM:277170
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocepha... OMIM:618590
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Narrow mouth, En... OMIM:226600
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Emanuel Syndrome
Delayed eruption of teeth, Atrial septal defect, Failure to thrive, Broad jaw, Ventricular septal... ORPHA:96170
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Atrial septal defect, Posteriorly rotated ears, Ventricular septal def... OMIM:157800
Hermansky-Pudlak Syndrome 10
Retrognathia, Hypotelorism OMIM:617050
15Q14 Microdeletion Syndrome
Ventricular septal defect, Prominent nasal bridge, Microcephaly, Deeply set eye, Biparietal narro... ORPHA:261190
Meier-Gorlin Syndrome 7
Anal stenosis, Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Wide anterior fontan... OMIM:617063
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Underf... OMIM:268400
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Choanal atresia, Micrognath... ORPHA:494344
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Myeloproliferative disorder, Obesity, Right atrial enlargement ORPHA:70591
Floating-Harbor Syndrome
Narrow nasal bridge, Persistence of primary teeth, Carious teeth, Hypoplasia of the maxilla, Long... ORPHA:2044
Chromosome 15Q11.2 Deletion Syndrome
Hypotelorism, Hypertelorism, Micrognathia OMIM:615656
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Brachyc... OMIM:619995
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma OMIM:274270
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hearing impairment, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermil... ORPHA:363444
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:411511
Isolated Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Submucous cleft hard palate ORPHA:209908
Mosaic Trisomy 9
Intestinal malrotation, Spina bifida, Micrognathia, Hypertelorism, Bulbous nose, Cleft palate, Hy... ORPHA:99776
Zaki Syndrome
Wide nose, Anteverted nares, Micrognathia, Cupped ear, Wide nasal bridge, Wide mouth, Median pseu... OMIM:619648
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia, Thrombocytopenia, Leukocytosis, ... ORPHA:824
American Trypanosomiasis
Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy, Pallor ORPHA:3386
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, P... ORPHA:667
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Obesity, Aortic r... ORPHA:404443
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Abnormal dental enamel morphology, Accessory oral fr... ORPHA:2750
Pelger-Huet Anomaly
Frontal bossing, Depressed nasal bridge, Ventricular septal defect, Abnormality of neutrophils, H... OMIM:169400
Ascher Syndrome
Hypertelorism, Wide nose, Hypothyroidism, Goiter ORPHA:1253
16Q24.3 Microdeletion Syndrome
Frontal bossing, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Protruding ear, Wide mou... ORPHA:261250
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia... ORPHA:1974
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Sagittal craniosynostosis, Microg... OMIM:616901
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypotelorism OMIM:619053
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Frontal bossing, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Hypop... ORPHA:500150
Cardiofaciocutaneous Syndrome 1
Micrognathia, Deep philtrum, High palate, Anteverted nares, Depressed nasal bridge, Hypertelorism... OMIM:115150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Aganglionic megacolon, Microcephaly, Broad nasal tip, Hypertelorism, Wide nasal bridge, Plagiocep... OMIM:614749
Doors Syndrome
Adrenal hyperplasia, Brachycephaly, Anteverted nares, Sagittal craniosynostosis, Hypertelorism, W... ORPHA:79500
Kapur-Toriello Syndrome
Posteriorly rotated ears, Intestinal malrotation, Bulbous nose, Orofacial cleft, Retinal coloboma... ORPHA:2328
Adenohypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:95512
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus ar... OMIM:300963
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Frontal bossing, Depressed nasal bri... ORPHA:3379
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Carey-Fineman-Ziter Syndrome 1
Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip, Trismus, Sensorineural h... OMIM:254940
Noonan Syndrome 5
Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Wide mouth, Thick vermilion border,... OMIM:611553
Ehlers-Danlos Syndrome, Classic Type, 1
Irregularly spaced teeth, Recurrent sinusitis, Lop ear, Bowel diverticulosis, Narrow maxilla OMIM:130000
Fetal Akinesia Deformation Sequence 1
Posteriorly rotated ears, Micrognathia, Hypertelorism, High, narrow palate, Narrow mouth, Hydroce... OMIM:208150
Galloway-Mowat Syndrome 9
Hypertelorism, Hypotelorism OMIM:619603
Dubowitz Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Micrognathia, Carious teeth, Broad nasal tip, ... OMIM:223370
Acrocardiofacial Syndrome
Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Hypertelorism, Cryptorchidism, Wide ... ORPHA:2008
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Bilateral sensorin... ORPHA:436174
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Pierre-Robin sequence, Gin... OMIM:300868
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Posteriorly rotated ears, Small for gestational age, Ventricular septal defect, Cardiomegaly, Mic... OMIM:616897
Lig4 Syndrome
Chronic sinusitis, Hypotelorism OMIM:606593
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Coloboma, Hearing impairment OMIM:610023
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... OMIM:274600
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Frontal bossing, Ventricular septal defect, Anteverted nares, Depressed nasal ... OMIM:618870
Verloove Vanhorick-Brubakk Syndrome
Micrognathia, Cryptorchidism, Abnormality of the parathyroid gland, Microtia, Atresia of the exte... ORPHA:3429
C Syndrome
Ventricular septal defect, Posteriorly rotated ears, Anteverted nares, Microcephaly, Micrognathia... OMIM:211750
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo... ORPHA:1942
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Wide nose, Prominent nasal bridge, Convex nasal ridge, Prominent nose, Dental malocclusion, High ... OMIM:601552
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Hypertelorism, Wide anterior f... OMIM:616638
Witteveen-Kolk Syndrome
Uplifted earlobe, High, narrow palate, Protruding ear, Deeply set eye, Short philtrum, High palat... OMIM:613406
Nanophthalmos
Microphthalmia ORPHA:35612
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormality of the vertebral c... ORPHA:2345
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Underdeveloped nasal a... OMIM:619127
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Anteverted nares, Trigonocephaly, Microcephaly, ... OMIM:610536
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Microceph... OMIM:227646
Alazami Syndrome
Wide nose, Wide mouth, Deeply set eye, Thick vermilion border, Short philtrum, Widely spaced teet... ORPHA:319671
Mgat2-Cdg
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Po... ORPHA:79329
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defec... ORPHA:261494
Zellweger Syndrome
Flat occiput, Ventricular septal defect, Depressed nasal bridge, Microcephaly, External ear malfo... ORPHA:912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Meningoencephaloc... OMIM:236670
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:98795
Vici Syndrome
Hypertelorism, Hypotelorism ORPHA:1493
Kapur-Toriello Syndrome
Intestinal malrotation, Cleft upper lip, Bulbous nose, Cleft palate, Retinal coloboma, Low-set ea... OMIM:244300
Distal Deletion 10Q
Hypotelorism, Proptosis, Spina bifida occulta, Micrognathia ORPHA:96148
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Sagittal craniosynostosis, Anteverted nares, H... OMIM:615879
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Choanal ste... OMIM:620183
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Deeply set eye, Short philtr... OMIM:616268
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... ORPHA:95716
Thakker-Donnai Syndrome
Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Hypertelorism, Bulbous n... ORPHA:1780
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Posteriorly rotated ears, Anteverted nares, Anterior open-bite malocclusion, Perimembranous ventr... OMIM:617877
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Abnormality of the dentition, Prominent... ORPHA:363528
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Cupped ear, Wide nasal bridge, Anteriorly placed anus, Microtia, Microphthalmia, An... ORPHA:1352
Fryns-Smeets-Thiry Syndrome
Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Thick lower lip vermilion, Wide mouth,... ORPHA:2058
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Anteverted nares, Depressed nasal brid... OMIM:268310
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Everted upper lip vermilion, Anteverted nares, Craniosynostosis, Hypertelorism, Wide m... OMIM:619056
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Wide mouth, Mandibular prognathia ORPHA:411515
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia OMIM:611561
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Abnormality of the temporomandibular joint, A... ORPHA:536471
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Deeply set eye, Atrioventricular canal defect, Dysplastic aortic val... ORPHA:508488
Recombinant 8 Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism,... ORPHA:96167
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cerebral hemor... ORPHA:29072
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Hypertelorism, Abnormal antihelix morphology, Thin vermilion bord... ORPHA:85194
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Splenomegaly, Coarctation of aorta, Leukopenia, Lymphopenia OMIM:620210
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia OMIM:243440
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula OMIM:601492
Aymé-Gripp Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Craniosynostosis, Hyp... ORPHA:1272
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Craniosynostosis, ... ORPHA:363611
Neurodevelopmental Disorder With Spasticity And Poor Growth
Flat occiput, Tented upper lip vermilion, Anteverted nares, Prominent nose, Hypertelorism, High, ... OMIM:618076
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Micrognathia, Tracheoesophag... ORPHA:958
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Kilquist Syndrome
Mandibular prognathia, Choanal atresia, Intestinal malrotation, Midgut malrotation, Xerostomia, H... OMIM:619080
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Frontal bossing, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Mi... ORPHA:508533
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Flat occiput, Posteriorly rotated ears, Ventricular septal defect, Anteverted ... OMIM:214100
Oculogastrointestinal Neurodevelopmental Syndrome
Low hanging columella, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresi... OMIM:619318
Sheehan Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc... ORPHA:91355
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Malar prominence, Wide mouth, Large earlobe, Hypoplasia of the zygomatic b... ORPHA:2715
Osteopetrosis With Renal Tubular Acidosis
Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Macrotia, Thick lower l... ORPHA:2785
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Lipoid Proteinosis
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... ORPHA:530
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Posteriorly rotated ears, Ventricular septal defect, Hypertelorism, Long nose, Patent ductus arte... OMIM:620113
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano... ORPHA:95430
Schwartz-Jampel Syndrome
Low-set, posteriorly rotated ears, Pursed lips, Prominent nasal bridge, Micrognathia, Hypertelori... ORPHA:800
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypertelorism, Brachycephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Proptosis,... OMIM:614800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Microcephaly, Underdeveloped ... ORPHA:453499
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Atrial septal defect, Recurren... OMIM:616898
Fountain Syndrome
Craniofacial hyperostosis, Spina bifida, Hypertelorism, Sensorineural hearing impairment, Thick l... ORPHA:3219
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Marden-Walker Syndrome
Posteriorly rotated ears, Micrognathia, Pyloric stenosis, Hydrocephalus, Submucous cleft hard pal... ORPHA:2461
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Large for gestational age, Elevated circulating thyroid-stimulating hormo... ORPHA:226313
Cog1-Cdg
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Micrognathia, Hypertelorism, Pierre-... ORPHA:263508
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Micrognathia, Sensorineural hearing impairment, Thick lower lip ver... ORPHA:85321
Noonan Syndrome 10
Relative macrocephaly, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus ar... OMIM:616564
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Wide mouth, Retrognathia, Prominent nasal bridge, Micrognathia OMIM:604273
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Frontal bossing, Dolichocephaly, Pyloric stenosis, Wide anterior fontan... ORPHA:457279
Pediatric-Onset Graves Disease
Craniosynostosis, Microcephaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with ... ORPHA:525731
Intellectual Developmental Disorder, Autosomal Dominant 61
Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Wide mouth, S... OMIM:618009
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Flat occiput, Ventricular septal defect, Redundant neck skin, Thyroid lymphangiectasia, Micrognat... OMIM:235255
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Sensorineural hearing impairment OMIM:158900
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Costello Syndrome
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Ventricular septal defect, Abnor... ORPHA:3071
Chromosome 6Q24-Q25 Deletion Syndrome
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Dolichocephaly, High, narrow palate,... OMIM:612863
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Hamamy Syndrome
Thin upper lip vermilion, Anteverted nares, Craniosynostosis, Micrognathia, Hypertelorism, Sensor... OMIM:611174
Robinow Syndrome
Micrognathia, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Persistence of prim... ORPHA:97360
Dubowitz Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anal stenosis, Depressed nasal brid... ORPHA:235
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Isolated Sedoheptulokinase Deficiency
Shallow orbits, Abnormality of globe location, Hypotelorism ORPHA:440713
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hypotelorism, Micrognathia ORPHA:502423
Abruzzo-Erickson Syndrome
Coloboma OMIM:302905
Autosomal Spastic Paraplegia Type 18
Abnormal pinna morphology, Wide mouth, Macroglossia, High palate, Short philtrum ORPHA:209951
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Microphthalmia, Retrognathia OMIM:618914
Restrictive Dermopathy 2
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Proptosis, Convex nasal ridge OMIM:619793
Diamond-Blackfan Anemia 21
Hypertelorism, Micrognathia, Protruding ear, Low-set ears, Narrow mouth OMIM:620072
Tenorio Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Hydrocephalus, Wide mouth, Macroglossia, Recu... OMIM:616260
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Cryptorchidism, Deeply set eye, Macrocephaly, Macrotia OMIM:618504
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Turricephaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long nose, Bulbous nose, Wi... OMIM:620224
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Anteverted nares, High, narrow palate, Wide mouth, Thin vermilion border, Ev... ORPHA:3051
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Hypertelor... ORPHA:2710
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Bro... OMIM:618050
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Protruding tongue, Promi... OMIM:617804
Buratti-Harel Syndrome
Posteriorly rotated ears, Hypertelorism, Velopharyngeal insufficiency, Submucous cleft hard palat... OMIM:619314
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Abnormal dental enamel morphology, Choanal atresia, Hypertelorism, High, n... ORPHA:2658
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Frontal bossing, Wide nose, Ventricular septal defect, Microcephaly, Micro... ORPHA:261337
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Hypertelorism, Dental malocclusion, Cleft palate, Downturned corners of mouth, High... OMIM:265000
Koolen-De Vries Syndrome
Failure to thrive, Small for gestational age, Bicuspid aortic valve, Ventricular septal defect, M... OMIM:610443
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Broad nasal tip... OMIM:619480
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Protru... OMIM:301040
Lateral Meningocele Syndrome
Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the mi... OMIM:130720
Native American Myopathy
Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mouth, High pala... ORPHA:168572
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Pallor, Micrognathia ORPHA:536516
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Hypertelorism, Trismus, Deep ... OMIM:227330
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Waldenström Macroglobulinemia
Normocytic anemia, Purpura, Epistaxis, Abnormality of neutrophils, Splenomegaly, Vasculitis, Lymp... ORPHA:33226
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Subm... OMIM:619680
Noonan Syndrome 9
Ventricular septal defect, Hypertelorism, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis OMIM:616559
Greenberg Dysplasia
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Hypertelorism, Depressed nasal r... OMIM:215140
Restrictive Dermopathy 1
Natal tooth, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Micrognathia, Hypertelo... OMIM:275210
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... ORPHA:231222
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atresia, Posteriorly rotat... ORPHA:2759
Mullegama-Klein-Martinez Syndrome
Frontal bossing, Depressed nasal bridge, Facial palsy, Microcephaly, Micrognathia, Prominent nose... OMIM:301022
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia OMIM:611134
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Abnormality of the dentition, Wide mouth, Prominent antihelix, Deeply set... OMIM:615802
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding tongue, Brachycephaly, Gingiva... OMIM:618797
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Carious teeth, Hypertelorism, Depressed nasal ridge, Propto... ORPHA:742
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of primary teeth, Wide nasal bridge, Gingivitis, Narrow mouth ORPHA:75496
Tetraamelia Syndrome 1
Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft palate, Low-se... OMIM:273395
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... OMIM:615631
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Meningocele, Prot... ORPHA:2031
7Q11.23 Microduplication Syndrome
Micrognathia, Brachycephaly, Deeply set eye, Abnormal optic disc morphology, Atrial septal defect... ORPHA:96121
Toriello-Carey Syndrome
Abnormal pinna morphology, Aganglionic megacolon, Microcephaly, Micrognathia, Cryptorchidism, Pat... ORPHA:3338
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Midface retrusion, Protruding tongue DECIPHER:52
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Frontal bossing, Ventricular septal defect, Craniosynostosis, Micrognathia, Underdeveloped nasal ... ORPHA:166035
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Broad nasal tip, Bifid nasal tip, Hypertelorism, Wide mouth, Median pseudocleft lip, Low-set ears... OMIM:619758
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor, Failure to thrive ORPHA:99931
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia OMIM:603194
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Cachexia, Microcephaly, Underdeveloped nasal alae, Cryptorchidism, Sup... ORPHA:217346
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Bulbous nose, Downturned corners of mouth, Wid... OMIM:615009
Timothy Syndrome
Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Hypothyroidism, Patent ductus ar... OMIM:601005
Roberts Syndrome
Craniosynostosis, Micrognathia, Cleft upper lip, Underdeveloped nasal alae, External ear malforma... ORPHA:3103
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Depressed nasal bridge, Hyp... ORPHA:1340
Deeah Syndrome
Malabsorption, Narrow mouth, Narrow palate, High palate, Short philtrum, Low-set ears, Long philt... OMIM:619004
Prader-Willi Syndrome Due To Translocation
Flat occiput, Micrognathia, Prominent nose, Hypotelorism, Downturned corners of mouth, Deeply set... ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Frontal bossing, Dental crowding, Prominent nose, High, narrow palate, Wide ... OMIM:300967
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Low-set ears, Duodenal stenosis ORPHA:2470
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... ORPHA:89842
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Prominent nasal bridge, Narrow mouth ORPHA:261222
Microtia
Holoprosencephaly ORPHA:83463
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Small for gestational age, Ventricular septal defect, Pericardial effusion, Normochr... OMIM:618775
Barber-Say Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Hypertelorism, Bulbous no... ORPHA:1231
Cerebrocostomandibular Syndrome
Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cleft palate, Glossop... ORPHA:1393
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Coloboma, Long philtrum OMIM:615877
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Dolichocephaly, Sensorineural hearing impairment, Narro... ORPHA:2719
Contractural Arachnodactyly, Congenital
Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Patent ductus ar... OMIM:121050
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Ventricular septal defect, Microcephaly, Micrognathia, Nephrogenic dia... OMIM:208085
Joubert Syndrome 2
Encephalocele, Frontal bossing, Depressed nasal bridge, Hypertelorism, Hydrocephalus, Optic disc ... OMIM:608091
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Posteriorly rotated ears, Intestinal malrotation, Hi... OMIM:601776
Stormorken Syndrome
Deeply set eye, Hypotelorism OMIM:185070
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Posteriorly rotated ears, Anteverted nares, Mic... OMIM:619980
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hypertelorism, Depressed nasal ridg... ORPHA:1912
Abruzzo-Erickson Syndrome
Malar flattening, Iris coloboma, Coloboma, Chorioretinal coloboma ORPHA:921
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland ORPHA:2762
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, Micrognathia, Hypertelorism, High, narrow palate, Macrotia, Abnormality of dent... ORPHA:96092
Autosomal Dominant Robinow Syndrome
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... ORPHA:3107
Esophageal Atresia
Small for gestational age, Failure to thrive in infancy, Ventricular septal defect, Choanal atres... ORPHA:1199
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Wide nose, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Me... ORPHA:314647
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... ORPHA:99125
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, S... OMIM:206900
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Abnormality of the sense of smell, ... ORPHA:570
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Wide mouth, Widely spaced teeth,... OMIM:619877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:253800
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Overfolded helix, Low-set ears, Narrow mouth, Short nose OMIM:613735
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Coloboma, Microphth... ORPHA:370959
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, High pala... ORPHA:65286
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Hypertelorism, Bulbous no... ORPHA:2752
X-Linked Intellectual Disability, Pai Type
Protruding ear, Prominent nasal bridge, Narrow mouth ORPHA:85322
Ruvalcaba Syndrome
Dental crowding, Thin vermilion border, Narrow mouth, Short nose, Convex nasal ridge ORPHA:3121
Galloway-Mowat Syndrome 6
Anteverted nares, Downturned corners of mouth, Wide mouth, High palate, Microdontia OMIM:618347
Donnai-Barrow Syndrome
Ventricular septal defect, Posteriorly rotated ears, Depressed nasal bridge, Broad nasal tip, Hyp... OMIM:222448
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t... ORPHA:1134
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Secondary microcephaly, Pa... OMIM:613839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, ... OMIM:614643
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Nanophthalmos 4
Microphthalmia OMIM:615972
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hiatus hernia, Hypertelorism... OMIM:614756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Craniosynostosis 4
Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos... OMIM:600775
You-Hoover-Fong Syndrome
Microcephaly, Coarctation of aorta, Vascular ring, Double aortic arch, Hearing impairment OMIM:616954
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Pseudoleprechaunism Syndrome, Patterson Type
Prominent nose, Abnormal mandible condylar process morphology, Abnormal ethmoid bone morphology, ... ORPHA:2976
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Malabsorption, Macrotia, Protruding ear, Microphthalmia, Triangular mouth... OMIM:601675
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Wide mouth, Thick vermilion border... OMIM:619576
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Depressed nasal bridge, Hypertelorism, Downturned corners of mouth, Wide mouth, Short philtrum OMIM:619759
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:352665
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Tarp Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Hypertelorism, Pierre-Robin se... ORPHA:2886
Thyroid Dyshormonogenesis 1
Dry skin, Hypothyroidism, Goiter OMIM:274400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Hypertelorism, Cryptorchidism, Absent pulmonary artery, Patent ductus ... OMIM:600460
8P11.2 Deletion Syndrome
Hemolytic anemia, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, External e... ORPHA:251066
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Brachycephaly, Hypotelorism, Downturned corners of mouth, Deeply set eye, Small ear... OMIM:264090
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Microcephaly, Vertebrobasilar dolichoectasia, Brachycephaly, Wide nasal br... ORPHA:521445
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:225250
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Microceph... OMIM:600901
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Aspl... ORPHA:210122
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Ventricular septal defect, Depressed nasal bridge, Prominent occiput, Prop... OMIM:617895
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Micrognath... OMIM:620025
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Micrognathia, Prominent nose, Brachycephaly, Protruding ear, Hypotelorism,... OMIM:612474
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide mouth, Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Sensorineural hearing impair... OMIM:615636
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus, Ankyloglossia OMIM:602361
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidis... ORPHA:2519
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid... ORPHA:513456
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Trichohepatoenteric Syndrome 1
Frontal bossing, Wide nose, Villous atrophy, Anteverted nares, Hypertelorism, Narrow mouth, Depre... OMIM:222470
Opitz Gbbb Syndrome
Micrognathia, Atrial septal defect, Patent foramen ovale, Enlarged ovaries, Anteverted nares, Hyp... ORPHA:2745
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Depressed nasal bridge, Abnormal pinna morphology, Hypertelorism, Sensorineural ... ORPHA:35173
Myopathy With Extrapyramidal Signs
Anteverted nares, Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Leukocyto... OMIM:615673
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Exaggerated cupid's bow, Micrognathia, Bulbous nose, Wide mouth, Macroglossia, High pa... OMIM:614501
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Frontal bossing, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect, Micr... OMIM:610759
Coach Syndrome 2
Coloboma, Hydrocephalus, Chorioretinal coloboma OMIM:619111
Tyshchenko Syndrome
Ventricular septal defect, Posteriorly rotated ears, Supernumerary nipple, Cryptorchidism, Propto... OMIM:615102
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Ventricular septal defect, Depressed nasal b... ORPHA:1425
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate... OMIM:309800
2Q37 Microdeletion Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Microcephaly, Un... ORPHA:1001
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Thick lower lip vermilion, Wide mout... OMIM:616938
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Hypertelorism, Low-set ears, Long philtrum, Microphthalmia, Macrotia, Iris colo... OMIM:615145
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Paten... OMIM:619909
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, Hypotelorism, Deeply set eye, Patent foramen ovale, Hypothyroidism,... OMIM:619325
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Micrognathia, Protruding ear, Deeply set eye, Microdontia, Bifid uvul... OMIM:613458
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Microceph... OMIM:227650
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:98794
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypertelorism, Meningocele, Br... ORPHA:1827
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Depressed nasal bridge, Hypertelorism, Brachycephaly, Wide mouth, Low-set ears, ... OMIM:608776
Progressive Non-Infectious Anterior Vertebral Fusion
Depressed nasal bridge, Micrognathia, Hypertelorism, Brachycephaly, Wide nasal bridge, Wide mouth... ORPHA:2062
Pendred Syndrome
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Thyroid carcino... ORPHA:705
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Small for gestational age, Hypergonadotropic hypogonadis... OMIM:227645
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor,... OMIM:611590
Roifman Syndrome
Noncompaction cardiomyopathy, Anteverted nares, Ventricular septal defect, Eosinophilia, Underdev... OMIM:616651
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Vascular dilatation OMIM:616307
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal ... ORPHA:2538
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Depressed nasal bridge, Obesity, Pseudohypoparathyroidism, Enamel hypo... OMIM:612463
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Polycystic ovaries, Microtia, Short... ORPHA:1770
Chand Syndrome
Depressed nasal bridge, Hypertelorism, Cleft palate, Agenesis of permanent teeth, Abnormal oral f... ORPHA:1401
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Wide mouth, Retrognathia, Short philtrum, Low-set ears ORPHA:1194
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intestinal malrotation, Cleft upp... OMIM:249000
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Microcephaly, Cupped ear, Microtia, Low-set ears, Overfolded helix OMIM:609654
Trichothiodystrophy 5, Nonphotosensitive
Wide mouth, Optic nerve hypoplasia, Widely spaced primary teeth, Mandibular prognathia OMIM:300953
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert... ORPHA:91347
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Small for gestational age, Ventricular septal defect, Microcephaly, Cryptorchidism, Patent ductus... OMIM:620024
Phelan-Mcdermid Syndrome
Ventricular septal defect, Microcephaly, Dolichocephaly, Micrognathia, Patent ductus arteriosus, ... OMIM:606232
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Conductive hearing impairment, Cryptorchidism, Paten... ORPHA:353281
Trichothiodystrophy
Hypoplasia of mandible relative to maxilla, Carious teeth, Hypertelorism, Hypotelorism, Enamel hy... ORPHA:33364
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Wide mouth, Esophagitis, Micrognathia ORPHA:79350
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Hyperthyroidism, Micrognathia, Pallor, Increased circulating prolactin con... OMIM:617675
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Hypertel... ORPHA:91387
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Anteverted nares, Microcephaly, Micrognathia, Cryptorchidism, Dental m... ORPHA:444072
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... ORPHA:1959
Baraitser-Winter Cerebrofrontofacial Syndrome
Wide nose, Micrognathia, Prominent nose, Long nose, Hypertelorism, Optic disc coloboma, Wide nasa... ORPHA:2995
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Dyskeratosis Congenita, Autosomal Recessive 8
Hypotelorism OMIM:620133
Congenital Disorder Of Glycosylation, Type Iq
Depressed nasal bridge, Hypertelorism, Brachycephaly, Coloboma, Low-set ears, Microphthalmia OMIM:612379
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Focal Dermal Hypoplasia
Narrow nasal bridge, Abnormal dental morphology, Abnormal dental enamel morphology, Hearing impai... ORPHA:2092
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Atrial septal defect, Pancre... OMIM:602782
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus, Hearing impairment ORPHA:858
9Q33.3Q34.11 Microdeletion Syndrome
Wide nose, Abnormal pinna morphology, Epistaxis, Bulbous nose, Tented philtrum, Brachycephaly, Pl... ORPHA:495818
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Flat occiput, Ventricular septal defect, Redundant neck skin, Micrognathia, Broad nasal tip, Panc... ORPHA:1655
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Anteverted nares, Par... OMIM:617450
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Spondyloepiphyseal Dysplasia Congenita
Hypertelorism, Micrognathia, Cleft palate, Glossoptosis, Hearing impairment ORPHA:94068
Kinsship Syndrome
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypertelorism, Bulbous nose, Thick... OMIM:619297
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Hemiver... OMIM:113000
Neuroocular Syndrome
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Unilateral deafness, Short uvul... OMIM:619539
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Optic atrophy, Stroke-like episode, Polycystic ovaries, ... ORPHA:137675
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Prune Belly Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Tetralogy of Fallot, Atrial ... ORPHA:2970
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Hypertelorism, Bulbous nose, Flared nostrils,... OMIM:616737
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Anteverted nares OMIM:300982
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... ORPHA:980
Lymphedema-Distichiasis Syndrome
Microphthalmia, Micrognathia, Cleft palate, Cleft upper lip OMIM:153400
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Flat occiput, Ventricular septal defect, Posteriorly rotated ears, Dextrocardi... OMIM:614294
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Myocardit... ORPHA:892
Syndromic Diarrhea
Lymphopenia, Bicuspid aortic valve, Small for gestational age, Ventricular septal defect, Increas... ORPHA:84064
Rodrigues Blindness
Narrow nasal bridge, Microphthalmia, Tooth malposition, Protruding ear OMIM:268320
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Turricephaly, Aplasia/Hypoplasia of the tongue, Macrotia, Clef... ORPHA:2167
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Optic nerve hypoplasia, Hypertelorism, Hypoplastic aortic arch, Plagiocephaly ORPHA:457284
Yunis-Varon Syndrome
Micrognathia, Abnormal occipital bone morphology, High, narrow palate, Broad secondary alveolar r... ORPHA:3472
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Overfolded helix, Brachycephaly, Hypertelorism OMIM:616083
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Wide nasal bridge, Cleft palate, Choan... ORPHA:83617
Alg9-Cdg
Micrognathia, Brachycephaly, Large fleshy ears, Right ventricular dilatation, Abnormal left ventr... ORPHA:79328
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Posteriorly rotated ears, Ventricular septal defect, Abnormality of th... ORPHA:2789
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Fryns Syndrome
Microretrognathia, Tented upper lip vermilion, Anteverted nares, Aganglionic megacolon, Intestina... OMIM:229850
Codas Syndrome
Delayed eruption of teeth, Ventricular septal defect, Anteverted nares, Abnormal dental enamel mo... ORPHA:1458
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Pallor, Poikilocytosis, Hypochromi... OMIM:615234
Curry-Jones Syndrome
Intestinal malrotation, Craniosynostosis, Hypertelorism, Optic disc coloboma, Microphthalmia, Iri... ORPHA:1553
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Hypertelorism, Sens... OMIM:620075
Richieri Costa-Da Silva Syndrome
Abnormality of the dentition, Low-set ears, Narrow mouth ORPHA:3101
Adams-Oliver Syndrome 6
Splenomegaly, Truncus arteriosus, Ventricular septal defect, Calvarial skull defect OMIM:616589
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Atresia of the exte... OMIM:617666
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Weight loss, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Otopalatodigital Syndrome, Type Ii
Frontal bossing, Depressed nasal bridge, Posteriorly rotated ears, Spina bifida, Micrognathia, Hy... OMIM:304120
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Choanal atresia, Microgna... OMIM:613309
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Small earlobe, Severe periodontitis, Depressed nasal bridge, Protruding to... ORPHA:99843
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Frontal bossing, Turricephaly, Depressed nasal bridge, Choanal atresia, Craniosynostosis, Abnorma... ORPHA:95699
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... OMIM:609152
Fibrous Dysplasia Of Bone
Abnormal occipital bone morphology, Abnormal zygomatic bone morphology, Abnormal facial skeleton ... ORPHA:249
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Redundant skin, Hypertelorism, Bilateral cryptorchidism, Macrotia, Bulbo... OMIM:617403
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mouth, Long phi... OMIM:612731
Charcot-Marie-Tooth Disease, Type 4C
Prolonged brainstem auditory evoked potentials, Tongue atrophy, Tongue fasciculations, Hearing im... OMIM:601596
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Incontinentia Pigmenti
Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Microcephaly, Leukocytosis, Erythe... OMIM:308300
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Hypotelorism OMIM:616541
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Hypertelorism, Thick lower lip vermilion, Wide nasal bridge, Wide mouth, Open mouth, Thick upper ... OMIM:611087
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Frontal bossing, Natal tooth, Posteriorly rotated ears, Ventricular septal ... OMIM:300373
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Intellectual Developmental Disorder, Autosomal Dominant 68
Frontal bossing, Posteriorly rotated ears, Bulbous nose, Wide mouth, Deeply set eye, High palate,... OMIM:619934
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Wide nasal bridge, Protruding ear, Thick vermilion bor... ORPHA:2526
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Thin vermilion border, Narrow mouth OMIM:612447
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Protruding tongue, Hypertelorism, Cuppe... OMIM:617062
Bazex-Dupre-Christol Syndrome
Low hanging columella, Underdeveloped nasal alae, Narrow nasal ridge, Furrowed tongue OMIM:301845
Rabson-Mendenhall Syndrome
Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno... ORPHA:769
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Conductive hearing impairment, Patent ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Conductive hearing impairment, Patent ... ORPHA:353277
Carpenter Syndrome 2
Bilateral cryptorchidism, Brachycephaly, Protruding ear, Atrial septal defect, Anteverted nares, ... OMIM:614976
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter, Thrombocytopenia ORPHA:3327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Coloboma OMIM:613153
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Alagille Syndrome 1
Frontal bossing, Failure to thrive, Ventricular septal defect, Depressed nasal bridge, Hypertelor... OMIM:118450
Juvenile Polyposis Of Infancy
Frontal bossing, Depressed nasal bridge, Hypertelorism, High, narrow palate, Rectal prolapse, Ade... ORPHA:79076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth... OMIM:613150
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Neurocardiofaciodigital Syndrome
Optic disc pallor, Small for gestational age, Microcephaly, Patent ductus arteriosus, Tetralogy o... OMIM:619869
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Brachycephaly, Deeply set eye, Atrial septal defect... OMIM:607872
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpus... ORPHA:300298
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Lissencephaly 9 With Complex Brainstem Malformation
Depressed nasal bridge, Ventricular septal defect, Hypertelorism, Microcephaly, Low-set ears OMIM:618325
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Brachycephaly, Cleft palate, Downtur... ORPHA:85276
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Hydrocephalus, Depressed nasal ridge, Low-set ears, Microphthalmia, Short nose OMIM:300863
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Thrombocytopenia, Goiter OMIM:274240
Culler-Jones Syndrome
Hypotelorism OMIM:615849
3-Hydroxy-3-Methylglutaric Aciduria
Microcephaly, Leukocytosis, Dilated cardiomyopathy, Weight loss, Leukopenia, Pallor, Thrombocytos... ORPHA:20
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Cleft upper lip, Hypertelorism, Brachycephaly, Clef... ORPHA:1394
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Secundum atrial septal defect, Pat... OMIM:612562
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus, Downturned corn... OMIM:619321
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Supernumerar... OMIM:600268
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Ring Chromosome 22 Syndrome
Protruding tongue, Bulbous nose, Thick vermilion border, Dolichocephaly, Wide nasal base, Macroti... ORPHA:1446
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Mandibular prognathia, Posteriorly rotated ears, Broad nasal tip, Doli... OMIM:135500
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Short denta... OMIM:182250
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Precocious ... OMIM:620073
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Prominent nasal bridge, Hypertelorism, Cryptorchidism, Patent ductus a... ORPHA:1519
Multifocal Atrial Tachycardia
Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Arachnoid Cyst
Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormal occipital bone morphology ORPHA:2356
Sponastrime Dysplasia
Relative macrocephaly, Frontal bossing, Mandibular prognathia, Obtuse angle of mandible, Small fo... ORPHA:93357
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Microcephaly OMIM:246450
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Ssr4-Cdg
Abnormality of upper lip vermillion, Wide mouth, Deeply set eye, Widely spaced teeth, Macrotia ORPHA:370927
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Ventricular septal defect, Hypertelorism, Wide nasal bridge, Depressed nasal ti... OMIM:619306
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Cleft uppe... OMIM:154400
Polysyndactyly With Cardiac Malformation
Anteverted nares, Ventricular septal defect, Hypertelorism, Stillbirth, Atrial septal defect OMIM:263630
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Le... ORPHA:2331
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Retinal coloboma, Low-set ears, Microp... OMIM:612109
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... OMIM:619426
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Wide nasal ridge, Dolichoceph... ORPHA:459070
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Prot... OMIM:301030
Blomstrand Lethal Chondrodysplasia
Natal tooth, Anteverted nares, Depressed nasal bridge, Micrognathia, Protruding tongue, Proptosis... ORPHA:50945
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Anteverted nares, ... ORPHA:1488
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology ORPHA:3222
Hutchinson-Gilford Progeria Syndrome
Short lingual frenulum, Dental crowding, Micrognathia, High palate, Shallow orbits, Conductive he... ORPHA:740
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymph... ORPHA:653
Mosaic Trisomy 16
Small for gestational age, Ventricular septal defect, Maternal diabetes, Abnormality of the nose,... ORPHA:1708
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Wide nasal ridge, Craniosynostosis ORPHA:531151
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Depressed nasal bridge, Hypothyroidism, Obesity, Pseudohypoparathyroid... OMIM:103580
Martin-Probst Syndrome
Micrognathia, Hypertelorism, Sensorineural hearing impairment, Thick lower lip vermilion, Dental ... OMIM:300519
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Reduced radioactive iodine u... ORPHA:90674
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Opitz Gbbb Syndrome
Frontal bossing, Abnormal nasopharynx morphology, Ventricular septal defect, Posteriorly rotated ... OMIM:300000
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Patent ductus arterio... OMIM:300514
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment OMIM:616277
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Anteverted nares, Depressed nasal bridge, Narrow philtrum, Thick lower lip vermilion, Wide nasal ... ORPHA:163654
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Frontal bossing, Prominent nose, Brachycephaly, Wide nasal bridge, Wide mouth, Biparietal narrowi... ORPHA:1292
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Frontal bossing, Choanal atresia, Abnormality of the dentition, Micrognath... OMIM:151050
Combined Oxidative Phosphorylation Deficiency 55
Hypotelorism OMIM:619743
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Hypertelorism, Wide nasal bridge, Gingival overgrowth,... OMIM:619179
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Prominent nasal bridge, Cleft soft palate, Underdeveloped nasal alae, Broad nasal tip, Pyloric st... ORPHA:268261
Kury-Isidor Syndrome
Frontal bossing, Anteverted nares, Ventricular septal defect, Brachycephaly, Deeply set eye, Low-... OMIM:619762
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Anal atresia, Agenesis of permanent teeth OMIM:617244
Intellectual Developmental Disorder, Autosomal Dominant 53
Hypotelorism OMIM:617798
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia OMIM:308350
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism, Ventricular septal defect OMIM:616816
1P36 Deletion Syndrome
Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Deeply set eye, Conductive heari... ORPHA:1606
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala... ORPHA:69085
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Posteriorly rotated ears, Anteverted nares, Secondary microcephaly, Lo... OMIM:614961
Microcephalic Primordial Dwarfism, Dauber Type
Hypotelorism ORPHA:319675
Ogden Syndrome
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu... OMIM:300855
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Small for gestational age, Ventricular septal defect, Narrow nasal tip, Microc... ORPHA:464306
Lissencephaly 6 With Microcephaly
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Wide mouth, Widely spaced teeth, Macrotia OMIM:616212
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate, Thickened helices, Mi... ORPHA:2714
Stuve-Wiedemann Syndrome 1
Pursed lips, Frontal bossing, Anteverted nares, Micrognathia, Carious teeth, Deeply set eye, Thin... OMIM:601559
3Mc Syndrome 1
Atrial septal defect, Ventricular septal defect, Supernumerary nipple, Microcephaly, Hyperteloris... OMIM:257920
Pitt-Hopkins Syndrome
Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hiatus hernia, Triangular nasal ... ORPHA:2896
Roberts-Sc Phocomelia Syndrome
Micrognathia, Brachycephaly, Coloboma, High palate, Shallow orbits, Hyperplasia of the maxilla, C... OMIM:268300
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Downturned corners of mouth, Deeply set eye, Short philtrum, Premature los... ORPHA:3455
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Transient ischemic attack, Neutrophilia, Eosinophilia, Thrombocytope... ORPHA:3260
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears ORPHA:250977
Dravet Syndrome
Pallor ORPHA:33069
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Delayed e... OMIM:133540
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Posteriorly rotated ears, Microcephaly, Ove... OMIM:619229
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Hypertelorism,... OMIM:614207
Coffin-Siris Syndrome
Delayed eruption of teeth, Ventricular septal defect, Thick nasal alae, Anteverted nares, Microce... ORPHA:1465
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Micrognathia, Hypertelorism,... ORPHA:1662
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pr... ORPHA:534
X-Linked Agammaglobulinemia
Glossoptosis, Sensorineural hearing impairment, Sinusitis, Malabsorption ORPHA:47
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Glutaric Aciduria Iii
Hyperthyroidism, Failure to thrive, Goiter OMIM:231690
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Microcephaly, Brachycephaly, Protruding ear, Macrocephaly OMIM:618798
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Hamartoma of tongue, Accessory oral frenulu... ORPHA:434179
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Grayish enamel, Carious teeth, Recurrent upper respiratory tract infection... OMIM:253000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Protru... OMIM:619534
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, High palate, Short philtrum, Ch... ORPHA:798
Mucopolysaccharidosis Type 4
Anteverted nares, Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth,... ORPHA:582
Distal Deletion 12Q
Frontal bossing, Median cleft lip, Anteverted nares, Micrognathia, High, narrow palate, Supernume... ORPHA:96149
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity, Micrognathia,... OMIM:609192
Vici Syndrome
Hypotelorism, Hypertelorism, Micrognathia OMIM:242840
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma OMIM:601794
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... OMIM:601707
Fanconi Anemia
Frontal bossing, Aganglionic megacolon, Choanal atresia, Spina bifida, Micrognathia, Aplasia/Hypo... ORPHA:84
Hydrocephaly-Low Insertion Umbilicus Syndrome
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of F... ORPHA:2184
Joubert Syndrome 23
Coloboma OMIM:616490
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Small for gestational age, Ventricular septal defect, Prominent nasal bridge, ... ORPHA:464311
1P21.3 Microdeletion Syndrome
Broad nasal tip, Micrognathia, Wide mouth, Deeply set eye, Long ear, Short nose ORPHA:293948
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypertelorism, Erythroid hypoplasia, Reticulocytope... OMIM:612528
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hypotelorism OMIM:300968
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Protruding ear, Pin... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Protruding ear, Pin... ORPHA:363958
Oculocerebrocutaneous Syndrome
Hypertelorism, External ear malformation, Hydrocephalus, Orofacial cleft, Wide mouth, Iris colobo... ORPHA:1647
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Microcephaly, Nephrogenic diabetes insipidus, Low-set ears, Failure to... OMIM:613404
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... OMIM:309580
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... ORPHA:562
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Frontal bossing, Depressed nasal bridge, Posteriorly rotated ears, Accessory oral frenulum, Micro... OMIM:266920
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Large for gestational age, Hypertelorism, Senso... OMIM:617107
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormo... OMIM:612462
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Congenital sensorineural hearing impairment, Long philtrum, Sensorineural hearing impairment, Nar... OMIM:619147
Blepharophimosis, Ptosis, And Epicanthus Inversus
Depressed nasal bridge, Cupped ear, Wide nasal bridge, High palate, Microphthalmia OMIM:110100
Chime Syndrome
Ventricular septal defect, Hypertelorism, Supernumerary tooth, Erythema, Depressed nasal ridge, T... ORPHA:3474
Neu-Laxova Syndrome 1
Wide nose, Spina bifida, Cleft upper lip, Micrognathia, Swollen lip, Hypertelorism, Thick lower l... OMIM:256520
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Weight loss, Pheochromocytoma, Elevated circulating... ORPHA:1332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted lower lip v... OMIM:253280
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Frontal bossing, Redundant neck skin, Anteverted nares, Depressed nasal bridge, Microcephaly, Bro... OMIM:617157
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Splenomegaly, Patent ductus arteriosus, B... OMIM:618268
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Sensorineural hearing impairment, Hydrocephalus, Coloboma, Microphthalmia OMIM:615249
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Posteriorly rotated ears, Micrognathia, Prominent nose, Long nose, Bulbous nose, Submucous cleft ... ORPHA:2636
Hydrolethalus Syndrome 1
Median cleft lip, Abnormal pinna morphology, Micrognathia, Anencephaly, Cleft palate, Bifid nose,... OMIM:236680
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Micrognathia, Scaphocephaly, Depressed... OMIM:620005
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress... ORPHA:652
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Conductive hearing impairmen... ORPHA:444077
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Anteverted nares, ... ORPHA:2308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Optic nerve hypoplasia, Spina... ORPHA:508498
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Wide nose, Short lingual frenulum, Craniosynostosis, Broad nasal tip, Hypertelorism, Vertical orb... ORPHA:1521
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis ORPHA:93323
Sepsis In Premature Infants
Small for gestational age, Petechiae, Thrombocytopenia, Leukocytosis, Splenomegaly, Pallor, Neutr... ORPHA:90051
Joubert Syndrome 22
Microphthalmia, Coloboma OMIM:615665
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, Atrial septal defect, Pa... ORPHA:466791
Gaucher Disease, Type Ii
Double aortic arch, Trismus, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia OMIM:230900
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Abnormality of the dentition, Protruding ear, Microphthalmia, Hearing impair... ORPHA:1806
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Hypertelorism, Pyloric stenos... OMIM:235730
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Grayish enamel, Carious teeth, Recurrent upper respiratory tract infection... OMIM:253010
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Dilated cardiomyopathy, Facial diplegia... ORPHA:254892
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Micrognathia, Parietal foramina, Hypertelorism, Cupped ear, Wide nasal bridge, ... OMIM:609945
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anteverted nares, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal bridge, Wide mout... OMIM:611717
Tetrasomy 9P
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Abnormal de... ORPHA:3310
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Lymphadenopathy ORPHA:56425
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Uplifted earlobe, Micr... OMIM:619841
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Brachycephal... OMIM:608688
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Ventricular septal defect, Depressed nasal bridge, Hypertelorism, Overweight, Sensorineural heari... OMIM:619575
Blepharochalasis And Double Lip
Goiter OMIM:109900
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Ventricular septal defect, Abnormal heart m... ORPHA:254534
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Frontal bossing, Lactose intolerance, Depressed nasal bridge, Hypertelorism, Wide mouth, Long phi... ORPHA:457485
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Micrognath... ORPHA:96191
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hypertelorism, Cleft palate, Downturned corners of mouth, Bilateral conductive... ORPHA:488642
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Frontal bossing, Ventricular septal defect, Craniosynostosis, Micrognathia, Underdeveloped nasal ... OMIM:250410
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Iris coloboma, Hypotelorism OMIM:181270
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular dentition, Depressed nasal bridge, Macular coloboma, Abnormal auditory evoked potential... OMIM:619260
Ulbright-Hodes Syndrome
Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Prominent occiput, Thin vermilio... ORPHA:3404
Costello Syndrome
Redundant neck skin, Posteriorly rotated ears, Ventricular septal defect, Anteverted nares, Micro... OMIM:218040
Trisomy 8P
Posteriorly rotated ears, Abnormal atrioventricular connection, Anteverted nares, Microcephaly, D... ORPHA:264450
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thrive, Thrombocytopenia ORPHA:90045
Mckusick-Kaufman Syndrome
Ventricular septal defect, Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Tetra... ORPHA:2473
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part... OMIM:617660
Coffin-Siris Syndrome 4
Narrow nasal bridge, Atrial septal defect, Wide nose, Ventricular septal defect, Mitral atresia, ... OMIM:614609
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... ORPHA:464
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Ventricular septal defect, Micrognathia, Hypertelorism, Cryptorchidism... OMIM:614866
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poiki... OMIM:616959
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Hypertelorism, Protruding ear... ORPHA:96201
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Deafness, X-Linked 7
Posteriorly rotated ears, Unilateral microphthalmos, Wide nasal bridge, Atresia of the external a... OMIM:301018
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Hypertelorism, Hydrocephalus, Hypotelorism, Abnormality of the sphenoid ... ORPHA:363700
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Pallor, Failure to thrive, Abnormal autonomic nervous system physiology ORPHA:2131
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Micrognathia, Microcephaly, Multinodular goiter, Deeply set eye, Midfac... OMIM:620189
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Anteverted nares, Optic neuropathy, Hypertelorism, Optic atrophy, Wide... OMIM:619727
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Microdontia, Adva... OMIM:615873
Hyperlysinemia
Hypotelorism ORPHA:2203
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Frontal bossing ORPHA:2788
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:90673
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Congenital Fibrinogen Deficiency
Microphthalmia, Volvulus, Gingival bleeding ORPHA:335
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Frontal bossing, Depressed nasal bridge, Hydrocephalus, Wide mouth, Deeply set eye ORPHA:60040
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Adenylosuccinase Deficiency
Thin upper lip vermilion, Anteverted nares, Brachycephaly, Wide mouth, Low-set ears, Long philtru... OMIM:103050
Angelman Syndrome
Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:72
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Depressed nasal ridge, Holoprosencephaly, Median c... ORPHA:95494
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Hearing impairment OMIM:614153
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, P... OMIM:557000
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Wide nose, Abnormal mitral valve morphology, Abnormal heart valve morp... ORPHA:580
Duane-Radial Ray Syndrome
Anal stenosis, Abnormal nasopharynx morphology, Aganglionic megacolon, Choanal atresia, Optic dis... OMIM:607323
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Large for gestational age,... ORPHA:500095
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Small for gestational age, Microcephaly ORPHA:79243
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Gingival overgrowth, Low-set ears, Hea... ORPHA:93400
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Hyperthyroidism, Ventricular septal defect, Decreased response to growth h... ORPHA:488632
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Anal stenosis, Rectoperineal fistula, Choanal atresia, Senso... OMIM:107480
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Depressed nasal bridge, Protruding tongue, Micrognathia, Broad nasal ... OMIM:619777
Warburg Micro Syndrome 2
Prominent nasal bridge, Asymmetry of the ears, Brachycephaly, Deeply set eye, Microphthalmia, Sho... OMIM:614225
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Tented upper lip vermilion, Hypertel... ORPHA:487796
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Wide nose, Abnormal mitral valve morphology, Abnormal heart valve morp... ORPHA:217085
Noonan Syndrome 14
Posteriorly rotated ears, Prominent nasal bridge, Hypertelorism, High, narrow palate, Wide mouth,... OMIM:619745
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Hearing impairment ORPHA:276198
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Relative macrocephaly, Posteriorly rotated ears, Ventricular septal defect, Large for gestational... OMIM:607721
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Autosomal Dominant Kenny-Caffey Syndrome
Hypertelorism, Carious teeth, Persistence of primary teeth, Bilateral microphthalmos, Calvarial o... ORPHA:93325
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microretrognathia, Accessory spleen, Ventricular septal defect, Failure to thrive in infancy, Dep... OMIM:619418
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Micrognathia, Cardiomega... OMIM:614921
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypotelorism OMIM:300661
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Oral mucosal blisters, Carious teeth... ORPHA:79408
Mucopolysaccharidosis, Type Iiid
Frontal bossing, Anteverted nares, Depressed nasal bridge, Hypertelorism, Thick lower lip vermili... OMIM:252940
Ablepharon-Macrostomia Syndrome
Microtia, third degree, Hypertelorism, Abnormal nasal morphology, Microtia, first degree, Short u... OMIM:200110
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Wide nose, Abnormal mitral valve morphology, Abnormal heart valve morp... ORPHA:217093
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,... OMIM:314390
Bilateral Polymicrogyria
Micrognathia, Sensorineural hearing impairment, Wide mouth, Low-set ears, Difficulty in tongue mo... ORPHA:268940
Larsen Syndrome
Atrial septal defect, Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Hearing... OMIM:150250
Kyphoscoliotic Ehlers-Danlos Syndrome
Hypotelorism, Micrognathia ORPHA:536545
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Choanal atresia, Depressed nasal bridge, Ab... OMIM:122470
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Cerebellofaciodental Syndrome
Ventricular septal defect, Microcephaly, Cryptorchidism, Dental malocclusion, Mitral valve prolap... OMIM:616202
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Deeply set eye, Wide... ORPHA:2152
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Anteverted nares, Hypertelorism, Esophageal varix, Wide m... OMIM:216360
X-Linked Intellectual Disability, Cabezas Type
Prominent nose, Open bite, Thick lower lip vermilion, Abnormal earlobe morphology, Wide mouth, Hi... ORPHA:85293
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Abnormal earlobe... ORPHA:141127
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Ventricular septal defect, Micrognathia, Underdeveloped nasal alae, Microcytic anemia,... OMIM:619525
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ventricular septal defect, Decreased response to growth hormone stimulation test, Elevated circul... OMIM:610978
Microsporidiosis
Cachexia, Myocarditis, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphaden... ORPHA:2552
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Thin upper lip vermilion, Chronic gastritis, Hearing impairment, Micrognat... OMIM:150230
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Deeply set eye, Shor... ORPHA:261537
Immunodeficiency 47
Hypotelorism OMIM:300972
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia OMIM:601374
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, De... ORPHA:2729
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Hypotelorism OMIM:218330
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Pagod Syndrome
Microcephaly, Situs inversus totalis, Abnormality of the spleen, Optic atrophy, Pulmonary artery ... ORPHA:991
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Esophageal varix, Microphthalmia, Calvarial skull defect ORPHA:974
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Abnormal pinna morphology, Concave nasal ridge, Microphthalmia, Malar flattening... OMIM:302960
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Depressed nasal bridge, Ventricular septal defect, Macrocephaly, Failure to ... OMIM:615503
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Ventricular septal defect, Hypothyroidism OMIM:619908
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Pallor, Weight loss ORPHA:134
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Thick vermilion border, Wide... ORPHA:324540
Coffin-Siris Syndrome 1
Conical tooth, Brachycephaly, Hypotelorism, Short philtrum, High palate, Microdontia, Spina bifid... OMIM:135900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft palate, Hyp... OMIM:614557
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia ORPHA:90033
Galloway-Mowat Syndrome 7
Micrognathia, Dilated cardiomyopathy, Ventricular septal defect, Microcephaly OMIM:618348
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo... ORPHA:98870
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Redundant skin, Large for gestational age, Cardiomegaly, Posterior helix p... ORPHA:116
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Coarctation of aorta... OMIM:618748
Scleromyxedema
Narrow mouth ORPHA:167635
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Small for gestational age, Bicuspid aortic valve, Posteriorly rotated ears, Microcephaly, Secundu... OMIM:613355
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Ventricular septal defect, Overweight, Pericardial effusion, Dilated c... ORPHA:26793
Joubert Syndrome 1
Anteverted nares, Protruding tongue, Optic disc coloboma, Occipital myelomeningocele, Plagiocepha... OMIM:213300
Fanconi Anemia, Complementation Group N
Aplastic anemia, Hypertelorism, Ventricular septal defect, Microcephaly OMIM:610832
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma ORPHA:363741
Short Stature And Microcephaly With Genital Anomalies
Prominent nose, Convex nasal ridge, Narrow mouth OMIM:618702
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Wide mouth, Open mouth, Tented upper lip vermilion ORPHA:500533
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Polysplenia, Atri... ORPHA:1335
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Pulmonary artery stenosis, Ventricular septal defect, Low-set ears OMIM:611812
Shprintzen Omphalocele Syndrome
Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Short columella, Thin vermilion bo... OMIM:182210
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Mucolipidosis Ii Alpha/Beta
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypertelorism, Myelopat... OMIM:252500
Charcot-Marie-Tooth Disease Type 4B2
Buphthalmos, Difficulty in tongue movements, Tongue atrophy, Sensorineural hearing impairment ORPHA:99956
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Hearing impairment, Micrognathia, Adrenal hypoplasia, Erythema, Abnormal ... OMIM:308050
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Low-set ears, Stomati... OMIM:277380
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:607598
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Deeply set eye, Shor... ORPHA:261552
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Anteverted nares, Microcephaly, Micrognathia, Prominent nose, Muscular... OMIM:210710
Peters Plus Syndrome
Micrognathia, Brachycephaly, Widely spaced teeth, Conductive hearing impairment, Spina bifida occ... ORPHA:709
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Nasal congestion OMIM:616037
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Pheochromoc... OMIM:160980
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... OMIM:300908
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Kabuki Syndrome 1
Hemolytic anemia, Posteriorly rotated ears, Ventricular septal defect, Premature thelarche, Micro... OMIM:147920
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calci... OMIM:162300
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Microcephaly, Pulmonary a... OMIM:100300
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Iris coloboma, Optic disc coloboma OMIM:169550
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Systemic Sclerosis
Abnormal small intestine morphology, Barrett esophagus, Abnormal large intestine morphology, Abno... ORPHA:90291
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Spastic Paraplegia 51, Autosomal Recessive
Long nose, Bulbous nose, Wide nasal bridge, Wide mouth, Prominent antihelix, Short philtrum OMIM:613744
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Sensorineural hearing impairment, Tongue fasciculations, Hearing impairment OMIM:211530
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters ORPHA:79396
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Ventricular septal defect, Microcephaly, Optic atrophy, Obesity, Ventricular s... OMIM:614947
Omphalocele Syndrome, Shprintzen-Goldberg Type
Thin upper lip vermilion, Downturned corners of mouth, Hypoplasia of the pharynx, Short columella... ORPHA:3164
Hydranencephaly
Hypotelorism ORPHA:2177
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Irida Syndrome
Pallor ORPHA:209981
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Ventricular septal defect, Obesity OMIM:615630
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... OMIM:613001
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Microcephaly, Precocious puberty, Cryptorchidism,... OMIM:616682
Vascular Ehlers-Danlos Syndrome
Narrow nasal bridge, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth... ORPHA:286
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hype... ORPHA:466950
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue OMIM:614204
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Sensorineural hearin... ORPHA:101085
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect, Posteriorly rotated ears, Craniosynostosis, Microcephaly, Low-set ears... OMIM:178110
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Donohue Syndrome
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Proptosis, Low-set ears, Macrotia OMIM:246200
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:616730
Cockayne Syndrome Type 3
Carious teeth, Deeply set eye, Adult onset sensorineural hearing impairment, Conductive hearing i... ORPHA:90324
Juvenile Sialidosis Type 2
Hearing impairment, Gingival overgrowth, Low-set ears, Protruding tongue ORPHA:93399
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Glossitis, Cleft palate ORPHA:79284
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Abnormality of the temporomandibular joint, Protruding tongue ORPHA:258
Rajab Interstitial Lung Disease With Brain Calcifications 1
Deeply set eye, Hypotelorism OMIM:613658
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Anteverted nares, Cleft upper lip, Hype... ORPHA:373
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Orotic Aciduria
Atrial septal defect, Failure to thrive, Ventricular septal defect OMIM:258900
Liver Disease, Severe Congenital
Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Atrial septal defect,... OMIM:619991
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Anteverted nares, Eosinophilia, Micrognathia, Pancreatic cysts, Thromb... OMIM:274000
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Abnormal dental morphology, Delayed eruption of ... ORPHA:191
Pitt-Hopkins Syndrome
Deep philtrum, Flared nostrils, Cupped ear, Wide nasal bridge, Wide mouth, Deeply set eye, Short ... OMIM:610954
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:212550
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Malabsorption, Narrow mouth OMIM:616539
Hypophosphatemic Rickets And Hyperparathyroidism
Frontal bossing, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Macrocephal... OMIM:612089
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Protruding ear, Deeply set eye, Decreased body weight, Anteverted nares, H... OMIM:619475
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:203330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Ventricular septal defect, Anteverted nares, Microcephaly, Long nose, B... OMIM:619522
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Cowden Syndrome 7
Papillary thyroid carcinoma, Macrocephaly, Ductal carcinoma in situ, Hashimoto thyroiditis, Goiter OMIM:616858
Omodysplasia 1
Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Cryptorchidism,... OMIM:258315
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... ORPHA:2334
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Low-set ears, Protruding tongue OMIM:620352
Nicolaides-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Narrow nasal bridge, Short lingual frenulum, Anteverte... OMIM:601358
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Aganglionic megacolon, Hypertelorism, Sensorineural hearing impairment, Op... ORPHA:959
Norrie Disease
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Sen... ORPHA:649
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Goiter, Abnormality of the thyroid gla... ORPHA:201
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Bilateral Perisylvian Polymicrogyria
Micrognathia, Choanal atresia, Hearing impairment, Protruding tongue ORPHA:98889
Williams-Beuren Syndrome
Bicuspid aortic valve, Hypotelorism, Early onset of sexual maturation, Atrial septal defect, Hypo... OMIM:194050
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Deeply set eye, Submucous cleft hard palate, Narrow nose OMIM:618891
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Deeply set eye OMIM:305390
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Frontal bossing, Ventricular septal defect, Posteriorly rotated ears, Opti... OMIM:620330
Scheie Syndrome
Sensorineural hearing impairment, Wide mouth, Rhinitis, Thick vermilion border, Everted lower lip... ORPHA:93474
Floating-Harbor Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Prominent nose, Cario... OMIM:136140
Refsum Disease
Microphthalmia, Sensorineural hearing impairment, Anosmia ORPHA:773
Retinitis Pigmentosa 75
Pallor OMIM:617023
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
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
Yunis-Varon Syndrome
Flat occiput, Redundant neck skin, Micrognathia, Protruding ear, Abnormal calvaria morphology, Sm... OMIM:216340
Juvenile Polyposis Syndrome
Spontaneous, recurrent epistaxis, Small intestinal polyposis, Juvenile gastrointestinal polyposis... ORPHA:2929
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Posterior helix pit, Exaggerated median tongue furrow, Anteverted nares, D... OMIM:312870
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Turricephaly, Anteverted nares, Depressed nasal bridge, Protruding tong... OMIM:200600
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... ORPHA:79443
Linear Nevus Sebaceus Syndrome
Frontal bossing, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthalmia, Iris col... ORPHA:2612
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s... ORPHA:1724
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Microdontia, Sensorineural hearing impairment, Oral leukoplakia, Furrowed tongue OMIM:148210
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Hashimoto thyroiditis, Obesity, Gastro... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Hashimoto thyroiditis, Obesity, Gastro... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Hashimoto thyroiditis, Obesity, Gastro... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Hashimoto thyroiditis, Obesity, Gastro... ORPHA:881
Keutel Syndrome
Calcification of the auricular cartilage, Ventricular septal defect, Cartilaginous ossification o... OMIM:245150
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Pallor, Thrombocytopenia ORPHA:544482
Diets-Jongmans Syndrome
Ventricular septal defect, Broad nasal tip, Cryptorchidism, Low hanging columella, Interrupted in... OMIM:618846
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Coloboma ORPHA:199276
Serkal Syndrome
Abnormality of the adrenal glands, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Anterior Segment Dysgenesis 2
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia OMIM:610256
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine... ORPHA:438213
Osteopetrosis, Autosomal Recessive 8
Frontal bossing, Unilateral microphthalmos OMIM:615085
Aase-Smith Syndrome I
Ventricular septal defect, Abnormal pinna morphology OMIM:147800
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Hype... ORPHA:466943
Chondrodysplasia Punctata, Autosomal Dominant
Frontal bossing, Hypoplasia of the nasal bone OMIM:118650
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Supernumerary tooth, Pituitary adeno... ORPHA:733
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Redundant skin, Cutis laxa, Convex nasal ridge, Peripheral pulmonary a... OMIM:123700
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Weight loss, Enlargement of parotid gland... ORPHA:79078
Childhood Absence Epilepsy
Pallor ORPHA:64280
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Iris coloboma OMIM:269400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... OMIM:615474
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Wolf-Hirschhorn Syndrome
Accessory spleen, Atrial septal defect, Abnormal pinna morphology, Small for gestational age, Ven... OMIM:194190
Holt-Oram Syndrome
Thoracic scoliosis, Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left he... OMIM:142900
Leigh Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Macrotia, Optic atrophy, Neutropenia... ORPHA:506
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment OMIM:251800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Vascular dilatation OMIM:219730
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... ORPHA:79444
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Cardiac rhabdomyoma, Pulm... ORPHA:805
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Depressed nasal bridge, Decreased response to growth hormone stimulati... ORPHA:94089
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:99880
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Hydrocephalus, Low-set ears, Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Frontal bossing, Wide nose, Depressed nasal bridge, Cleft upper lip, Micrognathia, Esophageal atr... ORPHA:93271
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Protruding tongue OMIM:619580
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microphthalmia, Microtia, Duodenal atresia OMIM:603467
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Brachycephaly, Cleft palate, Micro... OMIM:263520
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Frontal bossing, Posteriorly rotated ears, Deep philtrum, Wide mouth, Low-set ears, Smooth philtr... OMIM:617260
Stüve-Wiedemann Syndrome
Trismus, Smooth tongue, Abnormality of the dentition ORPHA:3206
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Hearing impairment, Furrowed tongue OMIM:158310
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Femoral-Facial Syndrome
Ventricular septal defect, Abnormal pinna morphology, Maternal diabetes, Micrognathia, Underdevel... OMIM:134780
Agel Amyloidosis
Tongue atrophy, Xerostomia, Hearing impairment ORPHA:85448
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Multinodular goiter, Scaling skin OMIM:618373
Familial Exudative Vitreoretinopathy
Microphthalmia, Hearing impairment ORPHA:891
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations, Sensorineural hearing impa... ORPHA:99949
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Failure to thrive, Delayed eruption of t... ORPHA:199
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypertelorism, Macrotia, Prominent nose, Narrow mouth OMIM:614748
Johanson-Blizzard Syndrome
Diabetes mellitus, Small for gestational age, Ventricular septal defect, Convex nasal ridge, Micr... OMIM:243800
Cantú Syndrome
Anteverted nares, Wide nasal bridge, Wide mouth, Thick vermilion border, Long philtrum ORPHA:1517
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Papillorenal Syndrome
Microphthalmia, Sensorineural hearing impairment, Optic disc coloboma, Retinal coloboma OMIM:120330
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Pallister-Killian Syndrome
Micrognathia, Atrial septal defect, Anteverted nares, Depressed nasal bridge, Hypertelorism, Cryp... OMIM:601803
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Sotos Syndrome
Atrial septal defect, Ventricular septal defect, Aganglionic megacolon, Hearing impairment, Crani... ORPHA:821
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Ventricular septal defect, Mitral stenosis, Tricus... OMIM:143095
Aspartylglucosaminuria
Anteverted nares, Depressed nasal bridge, Hypoplastic frontal sinuses, Thick lower lip vermilion,... OMIM:208400
Lipodystrophy, Familial Partial, Type 7
Narrow nasal ridge, Low-set ears, Narrow mouth, Short nose, Tinnitus OMIM:606721
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Ulnar-Mammary Syndrome
Ventricular septal defect, Cryptorchidism, Obesity, Breast aplasia, Hypoplastic nipples, Delayed ... ORPHA:3138
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Proptosis, Decreased body weight,... OMIM:271640
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma OMIM:221900
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Thoracoabdominal Syndrome
Patent ductus arteriosus, Transposition of the great arteries, Ectopia cordis OMIM:313850
Early Infantile Epileptic Encephalopathy
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Microcephaly, Precocious pub... ORPHA:1934
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Coloboma ORPHA:85167
Genitopatellar Syndrome
Delayed eruption of teeth, Wide nose, Ventricular septal defect, Prominent nasal bridge, Microgna... OMIM:606170
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism ORPHA:94090
Hand-Foot-Genital Syndrome
Microtia, Ventricular septal defect ORPHA:2438
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Hearing impairment ORPHA:466768
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Ventricular septal defect, Low-set ears OMIM:614653
Geleophysic Dysplasia 1
Anteverted nares, Wide mouth, Long philtrum, Thickened helices, Short nose, Smooth philtrum OMIM:231050
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos OMIM:310600
Vater/Vacterl Association
Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Patent ductus arteri... OMIM:192350
Townes-Brocks Syndrome
Rectoperineal fistula, External ear malformation, Wide mouth, Anteriorly placed anus, Abnormal tr... ORPHA:857
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Hypoplas... OMIM:609049
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Sensorineural hearing impairment OMIM:610651
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Enamel hypoplasia OMIM:309000
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Eisenmenger Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia, Aortopulmonar... ORPHA:97214
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Sensorineural hearing impairment OMIM:278730
Limb Body Wall Complex
Ventricular septal defect, Depressed nasal bridge, Choanal atresia, Hypertelorism, Wide nasal bri... ORPHA:2369
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Anemia ORPHA:329971
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level OMIM:617994
Arima Syndrome
Wide mouth, Occipital meningocele, Esophageal varix, Chorioretinal coloboma OMIM:243910
Penile Agenesis
Ventricular septal defect, Posteriorly rotated ears, Depressed nasal bridge, Maternal diabetes, C... ORPHA:49
Glucagonoma
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea ORPHA:97280
Choreoacanthocytosis
Temporomandibular joint crepitus, Protruding tongue ORPHA:2388
Pmm2-Cdg
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Abnorm... ORPHA:79318
Goodpasture Syndrome
Pallor, Anemia, Weight loss OMIM:233450
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Obesity, H... OMIM:181450
Plague
Chapped lip, Enterocolitis, Inflammation of the large intestine, Glossitis, Hearing impairment ORPHA:707
Renal Agenesis
Ventricular septal defect ORPHA:411709
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus 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 Crkl

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 Crkl.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment. Science advances (May 2022) Crkltm1a(EUCOMM)Hmgu PMC9106291
Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis. Life science alliance (February 2020) Crkltm1c(EUCOMM)Hmgu PMC7010317
IL-7-induced phosphorylation of the adaptor Crk-like and other targets. Cellular signalling (March 2018) Crkltm1c(EUCOMM)Hmgu Crkltm1a(EUCOMM)Hmgu 29581031
Murine model indicates 22q11.2 signaling adaptor CRKL is a dosage-sensitive regulator of genitourinary development. Proceedings of the National Academy of Sciences of the United States of America (April 2017) Crkltm1c(EUCOMM)Hmgu Crkltm1a(EUCOMM)Hmgu Crkltm1d(EUCOMM)Hmgu PMC5441740
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. The New England journal of medicine (January 2017) Crkltm1c(EUCOMM)Hmgu PMC5559731

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MGI Allele Allele Type Produced
Crkltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Crkltm44027(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Crkltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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