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Gene: Foxh1 MGI:1347465

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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:
forkhead box H1
Synonyms:
Fast2

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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 Foxh1 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 predicted to be associated to Foxh1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu... OMIM:208530
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micrognathia, Holoprosencephaly, Aplasia/... ORPHA:1908
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrot... OMIM:306955
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali... OMIM:616749
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Left superior vena cava draining directly to the left atrium, Dextrotransposition of th... OMIM:619657
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Hypotelorism, Holoprosencephaly, Atrial septal defect, Agenesis of corpus cal... OMIM:264480
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Microcephaly, Micrognathia, Cryptorch... ORPHA:1166
Holoprosencephaly
Flat occiput, Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Deep phil... ORPHA:2162
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Atrioventricular cana... OMIM:605376
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atria... OMIM:601186
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... OMIM:614779
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Abnormal atrial arrangement, Res... ORPHA:244
Sweeney-Cox Syndrome
Flat occiput, Uplifted earlobe, Micrognathia, Asplenia, Bilateral cryptorchidism, Brachycephaly, ... OMIM:617746
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... OMIM:619148
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Posteriorly rotated ears, Sandal gap, Congenital diaphragmatic hernia, M... OMIM:300887
Trisomy 18
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Atrial septal defect, ... ORPHA:3380
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... OMIM:619702
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Hernia, Atria... ORPHA:185
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... ORPHA:1330
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Recombinant Chromosome 8 Syndrome
Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Clinodactyly of t... OMIM:179613
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Cyclopia, Situs inversu... ORPHA:990
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Low-set ears, Narrow mou... OMIM:612776
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Microcephaly, Asplenia, Cleft lip, Crypt... OMIM:619123
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Dep... ORPHA:261120
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:615524
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... OMIM:231060
Mosaic Trisomy 9
Micrognathia, Asplenia, Abnormal lung lobation, Hypotelorism, Finger clinodactyly, High palate, B... ORPHA:99776
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Partial agenesis of the corpus callosum, Aortic va... OMIM:619895
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atres... OMIM:270100
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Frontal bossing, Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, Megal... OMIM:603387
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Parachute mitral valve, Prominent nose, Deeply set eye, Short philtrum, Gastroes... OMIM:618316
Microform Holoprosencephaly
Tented upper lip vermilion, Maternal diabetes, Orofacial cleft, Hypotelorism, Short philtrum, Hol... ORPHA:280200
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Hypert... OMIM:619143
Skraban-Deardorff Syndrome
Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Absent cupid's... OMIM:617616
Holoprosencephaly-Postaxial Polydactyly Syndrome
Adrenal hypoplasia, Micrognathia, Abnormal lung lobation, Orofacial cleft, Hypotelorism, Absent n... ORPHA:2166
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
16P13.11 Microdeletion Syndrome
Gastroesophageal reflux, Holoprosencephaly, Atrial septal defect, Agenesis of corpus callosum, Ex... ORPHA:261236
Meacham Syndrome
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Congeni... OMIM:608978
Double Outlet Right Ventricle
Hypoparathyroidism, Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Hy... ORPHA:3426
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi... ORPHA:2863
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Anophthalmia, Brachycephaly, Downturned corners of mouth, High pala... OMIM:605627
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Hyp... ORPHA:2409
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Deeply set eye, High ... ORPHA:251071
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Brachyce... OMIM:220210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, Br... OMIM:265380
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m... ORPHA:2059
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Hypotelorism, Deeply ... OMIM:612530
Trisomy 1Q
Anophthalmia, Congenital diaphragmatic hernia, Hypotelorism, Agenesis of corpus callosum, Microre... ORPHA:261344
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Goiter, Bronchiectasis, Right aortic arch, Chronic rhinitis... OMIM:617577
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Hypotelorism, Downturned corners o... OMIM:300978
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Micrognathia, Metaphyseal widening, Flexion contracture, Abnorma... OMIM:263210
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, Deepl... OMIM:609029
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... ORPHA:94065
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Deeply set eye, Short phalanx of finger, E... OMIM:300845
Feingold Syndrome 1
Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Esophageal atresia, Pate... OMIM:164280
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Micrognathia, Alobar holoprosencephaly, Gastroesophageal reflux, Aplasia o... OMIM:301043
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Prominent nose, High, narrow palate, Heterotaxy, ... ORPHA:3242
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Encephalocele, Ventricular septal defect, Abnormal pericardium m... ORPHA:1335
Stevenson-Carey Syndrome
Atrial septal defect, Posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Pier... OMIM:611961
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Microcephaly, Underdeveloped nasal alae, Cleft palate, Hydranencephaly... OMIM:601355
Trisomy 13
Anophthalmia, High, narrow palate, Abnormal lung lobation, Hypotelorism, Deeply set eye, Hernia, ... ORPHA:3378
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Patent foramen ovale, Hepato... OMIM:269860
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Asplenia, Hypotelorism, Lobulated tong... OMIM:249000
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodacty... ORPHA:1692
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Orofacial cleft, Hypotelorism, Aplasia of the nose, Holoprosence... ORPHA:3186
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypertelorism, Anencephaly, Primary... ORPHA:1590
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Congenital diaphragmatic hernia, Long nose, Downturned corners of mouth, Deeply ... OMIM:617602
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Microcephaly, Hypertelorism, Narrow mouth, Patent ductus arteriosus, Cr... OMIM:615502
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Bicuspid aortic ... OMIM:619720
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Microcephaly, Micrognathia, Cryptorchidism, Patent du... ORPHA:3304
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Congenital diaphragmati... ORPHA:96170
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thu... ORPHA:1120
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocard... OMIM:618280
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Deeply set e... OMIM:136140
Proboscis Lateralis
Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Hol... ORPHA:141099
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Underdeveloped nasal alae, Microc... OMIM:192430
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Depressed nasal ridge, Brachycephaly, Orofacial cleft, High pala... ORPHA:1520
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Prominent nose, Bilateral cryptorchidism, High, narrow pala... OMIM:180849
Holoprosencephaly 2
Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Hypotelorism, Holoprosen... OMIM:157170
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out... OMIM:620294
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Microcephaly, Micrognathia, Hypertelorism, Depressed nasal ... ORPHA:1727
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Abnormal cerebral vascular morphology, Micro... ORPHA:2165
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Overriding aorta, Depressed nasal bridge, Ventricular sept... OMIM:601927
Heart And Brain Malformation Syndrome
Attached earlobe, Cerebellar vermis hypoplasia, High, narrow palate, Gastroesophageal reflux, Dan... OMIM:616920
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Prominent... ORPHA:363528
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Depressed nasal bridge, Dext... OMIM:618929
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Ventricular septal defect... OMIM:611134
Diprosopus
Abnormality of the nose, External ear malformation, Non-midline cleft lip, Anencephaly, Cleft pal... ORPHA:1681
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Flat occiput, Posteriorly rotated ears, Ventricula... OMIM:614294
Marden-Walker Syndrome
Decreased muscle mass, Micrognathia, High, narrow palate, Hypoplasia of the brainstem, Zollinger-... OMIM:248700
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Monosomy 13Q34
Hepatic steatosis, Posteriorly rotated ears, Epistaxis, Prominent nasal bridge, Broad nasal tip, ... ORPHA:96168
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Hypoplasia of the iris,... OMIM:222448
Zaki Syndrome
Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Toe syndactyly, Congenital diaphragmat... OMIM:619648
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Anteverted nare... OMIM:619879
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Anteverted nares, Microcephaly, Micrognathia, Cryptorchidism, Hypertelorism, Wid... ORPHA:352490
Coffin-Siris Syndrome 3
Wide nose, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Microcephaly, Central diaph... OMIM:614608
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... OMIM:147250
Meckel Syndrome
Anophthalmia, Micrognathia, Asplenia, Depressed nasal ridge, Dandy-Walker malformation, Low-set, ... ORPHA:564
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Abnormally large globe, Mic... OMIM:245600
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Microcephaly, Hypotelorism, Narrow ... ORPHA:3469
Pseudoaminopterin Syndrome
Micrognathia, Asplenia, Orofacial cleft, High palate, Short philtrum, Microdontia, Patent foramen... ORPHA:221120
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy... OMIM:618454
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Prominent nasal bridg... ORPHA:1110
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali... OMIM:615415
Donnai-Barrow Syndrome
Omphalocele, Posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect, Intesti... ORPHA:2143
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Microcephaly, Cleft lip, Single naris... OMIM:142945
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Atrial septal defect, Cl... OMIM:612582
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Abnormal metacarpal morphology, Abnormal pelvic girdle bone mo... ORPHA:2370
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Hepatomegaly, Aplasia/Hypoplasia of the thumb, Abnormality of ... ORPHA:1597
Czeizel-Losonci Syndrome
Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat... ORPHA:2437
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Ventricular septal defect, ... ORPHA:1488
Cebalid Syndrome
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed na... OMIM:618774
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Underdeveloped nasal al... ORPHA:398156
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micrognathia, Cryptorc... ORPHA:2189
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Agenesis of cor... ORPHA:2745
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Finger syndactyly, Rib segmentation abnormalities, Inguinal he... ORPHA:2311
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... OMIM:617201
Alg3-Cdg
Cerebral white matter atrophy, Hypoplasia of the pons, Metaphyseal chondrodysplasia, Subcortical ... ORPHA:79321
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... ORPHA:93924
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... ORPHA:220386
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardi... OMIM:617022
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Atrial septal defect, Wide nose, Cerebral calcification, 4-layered lissencepha... ORPHA:89844
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Chronic bronchitis, Microcephaly, Situs inversus ... OMIM:615482
Distal Duplication 5Q
Micrognathia, Aplasia/Hypoplasia of the gallbladder, Hernia, Chorioretinal coloboma, Hypoplasia o... ORPHA:96097
8P Inverted Duplication/Deletion Syndrome
Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Clinodactyly of the 5th... ORPHA:96092
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, ... OMIM:618067
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus,... ORPHA:95430
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Conotruncal defect, Anotia,... ORPHA:2306
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Posteriorly rotated ears, Anteverted nares, Promin... OMIM:612946
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Large fleshy ears, High palate, Gastroesophageal r... OMIM:614080
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia, Malabsorption, Patent ductus arteriosus, Abnormal c... ORPHA:99811
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Atrial septal defect, Anteverted nar... ORPHA:1915
Floating-Harbor Syndrome
Long nose, Hypoplasia of the maxilla, Deeply set eye, Oligodontia, Humeral pseudarthrosis, Short ... ORPHA:2044
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Micrognathia, Abnormal lung lobation, Hypo... OMIM:614114
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Pulmonary artery atresia, Agenesis of corpus callosum, Hepatomegaly, Hypertelorism, C... OMIM:301056
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Microcephaly, Pericardial ... OMIM:613885
Frontoocular Syndrome
Atrial septal defect, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus exca... OMIM:605321
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Downturned corners of mouth, Deeply set eye, Short palm, Clinoda... ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Dextrocardia, Craniosynostosis, Congenital diaphragmatic hernia, Micrognath... ORPHA:261197
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hypertelorism, Hydrocep... ORPHA:268249
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Prominent nose, Micrognathia, Short philtrum, Clinodactyly of th... OMIM:301022
Microphthalmia With Limb Anomalies
Anophthalmia, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5t... OMIM:206920
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Anophthalmia, Abnormality of the spleen, Abnormal lung lobation,... ORPHA:2538
Arterial Tortuosity Syndrome
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hi... OMIM:208050
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Increased ... ORPHA:93274
White-Sutton Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Downturned c... OMIM:616364
Distal Deletion 15Q
Flat occiput, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutan... ORPHA:1596
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr... OMIM:314390
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Inguinal hernia, Dental crowding, Arachnodactyly, Facial hypotonia, Hyperteloris... OMIM:615539
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Finger syndactyly, Omphalocele, Occipital encephalocele, Conge... ORPHA:887
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl... OMIM:308050
Cog7-Cdg
Hepatomegaly, Micrognathia, Narrow mouth, Jaundice, Long fingers, Abnormal finger morphology, Abn... ORPHA:79333
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Ventricular septal defect, Megalencephaly, Abnormal nasal morphology, Nar... ORPHA:83473
Burn-Mckeown Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Atrial septal defect, Conduc... OMIM:608572
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Dandy-Walker malformation, Hepatomegaly, Portal... OMIM:208540
Greig Cephalopolysyndactyly Syndrome
Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Conge... ORPHA:380
Dislocation Of The Hip-Dysmorphism Syndrome
Inguinal hernia, Congenital hip dislocation, Anteverted nares, Prominence of the premaxilla, Hype... ORPHA:2412
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hypoplasia of the iris, Gastroesophageal reflux, Hernia, Chorior... ORPHA:2092
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Coloboma, Exaggerated cupid's bow, Broad hallux, Tapered finger, Hypertelorism, Cry... OMIM:618659
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic he... OMIM:618846
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology... ORPHA:2570
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia, Hypertelor... OMIM:615834
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... OMIM:619534
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic... OMIM:616777
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lo... OMIM:613630
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Long toe, An... OMIM:158170
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Ileal atresia, Micrognathia, Protruding ear, Holoprosencephaly, Agenes... OMIM:618820
Maternal Phenylketonuria
Anteverted nares, Ventricular septal defect, Microcephaly, Bifid distal phalanx of the thumb, Eso... ORPHA:2209
Thakker-Donnai Syndrome
Communicating hydrocephalus, Posteriorly rotated ears, Anteverted nares, Ventricular septal defec... ORPHA:1780
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fu... OMIM:300166
Cutis Laxa, Autosomal Recessive, Type Ic
Adrenal hypoplasia, Morgagni diaphragmatic hernia, Micrognathia, Rectal prolapse, Gastroesophagea... OMIM:613177
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Metatarsus... ORPHA:1388
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Depressed nasal bridge, Rocker bottom foot, Microcephaly, Micrognathia, Cryptorchidism, Bulbous n... OMIM:618766
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Broad hallux, Overlapping toe, Sandal gap, Broad nasal tip, Prominent n... OMIM:617755
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria... OMIM:214800
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Occipital meningocele, Hamartoma of tongue,... OMIM:616546
Limb Body Wall Complex
Congenital diaphragmatic hernia, Abnormality of the liver, Cutaneous finger syndactyly, Aplasia o... ORPHA:2369
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hori... OMIM:225500
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Microcephaly, ... ORPHA:2257
Triploidy
Micrognathia, Holoprosencephaly, Iris coloboma, Low-set, posteriorly rotated ears, Hepatomegaly, ... ORPHA:3376
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Agenesis of cerebellar vermis, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia,... OMIM:601322
20P12.3 Microdeletion Syndrome
Atrial septal defect, Broad hallux phalanx, Depressed nasal bridge, Hypertelorism, Hypoplasia of ... ORPHA:261295
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Syndactyly, Pericardial lymphangiectasia, Depressed nasal bridge, Hypertelor... OMIM:616006
Jansen-De Vries Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Bicuspid aortic valve, Vent... OMIM:617450
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching, Microcephaly OMIM:107500
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Brachycephaly, High palate, Hypogonadism, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Pectus excavatum, Micrognathi... OMIM:619699
17Q23.1Q23.2 Microdeletion Syndrome
Patellar hypoplasia, Protruding ear, Congenital contracture, Widely spaced teeth, Gastroesophagea... ORPHA:261279
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos... OMIM:154400
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Asp... OMIM:244400
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Deeply set eye, Hypoplastic iliac wing, Clinodactyly o... OMIM:260660
Holoprosencephaly 1
Diabetes insipidus, Proboscis, Microcephaly, Adrenal hypoplasia, Alobar holoprosencephaly, Hypote... OMIM:236100
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge, Narrow mouth OMIM:270460
Arthrogryposis, Distal, Type 2E
Foot joint contracture, Microcephaly, Micrognathia, Trismus, Mild microcephaly, Distal arthrogryp... OMIM:121070
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte... OMIM:313850
Phaver Syndrome
Broad hallux phalanx, Posteriorly rotated ears, Depressed nasal bridge, Ventricular septal defect... ORPHA:2876
Whistling Face Syndrome, Recessive Form
Inguinal hernia, Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae,... OMIM:277720
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Overlapping toe, Microcephaly, Partial agenesis of the corpus callosum... OMIM:617478
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... OMIM:235510
Insulin-Like Growth Factor I, Resistance To
Micrognathia, Deeply set eye, High palate, Atrial septal defect, Patent foramen ovale, Long philt... OMIM:270450
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Microcephaly, Micrognathia, Cryptorchidism, Non-midline cleft li... ORPHA:2075
Phenobarbital Embryopathy
Mandibular prognathia, Microcephaly, Hypertelorism, Aplasia/Hypoplasia of fingers, Abnormal nasal... ORPHA:1919
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hallux valgus, Dilation of Virchow-Robin spaces, Facial hypoto... ORPHA:261311
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, High, narrow palate, Anteriorly placed anus, Deeply set eye, Gastro... OMIM:618494
Frank-Ter Haar Syndrome
Flat occiput, Abnormally large globe, Secundum atrial septal defect, Micrognathia, Brachycephaly,... OMIM:249420
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... DECIPHER:39
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Atrial septal defect, Brachydactyly, Ventricular septal defect, Promine... ORPHA:401935
22Q11.2 Deletion Syndrome
Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphology, Short p... ORPHA:567
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr... ORPHA:860
Distal Triplication 15Q
Micrognathia, Flexion contracture, High palate, Hernia, Atrial septal defect, Dandy-Walker malfor... ORPHA:314588
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Pe... OMIM:136760
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Anteverted nares, Overlapping toe, Microcephaly, Micrognathia, Cryp... OMIM:600118
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou... ORPHA:280
Trisomy 17P
Skeletal muscle atrophy, Prominent nose, Micrognathia, Flexion contracture, Orofacial cleft, High... ORPHA:261290
Neu-Laxova Syndrome 1
Swollen lip, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Patent foramen ovale,... OMIM:256520
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Microcephaly, Micr... ORPHA:1926
Catel-Manzke Syndrome
Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Short metac... OMIM:616145
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Broad nasal tip, Microcephaly, Micrognathia, Hypertelorism, 2-3 toe syndactyly, ... OMIM:239800
Schisis Association
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Spina bifida, Anenceph... ORPHA:63862
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Iris coloboma, Dislo... ORPHA:2839
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Choanal atresia, Ventricular septal defect, Congenit... OMIM:613309
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Congenital diaphragmatic hernia, Clinodactyly, Hypotelorism, Downturned corners ... OMIM:301044
Monosomy 18Q
Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, D... ORPHA:1600
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Microcephaly, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft pa... ORPHA:93946
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, High palate, Short philtrum, Gastroesophageal reflux, Anteverted nares, Tapered... OMIM:616977
You-Hoover-Fong Syndrome
Brachydactyly, Accessory oral frenulum, Microcephaly, Pectus excavatum, Cleft palate, Coarctation... OMIM:616954
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left ... ORPHA:2326
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Brachycephaly, Coxa vara, Pr... OMIM:614976
Xp22.13P22.2 Duplication Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Broad nasal tip, Microcephaly, Tapered fi... ORPHA:284180
Alazami-Yuan Syndrome
Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Broad hallux, Prominent nose, ... OMIM:617126
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal... ORPHA:261102
Meckel Syndrome, Type 10
Frontal bossing, Occipital encephalocele, Abnormal pinna morphology, Malformation of the hepatic ... OMIM:614175
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Hypertelorism, Patent ductus arteriosus, Hypoplastic aortic ar... OMIM:614846
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy... OMIM:600001
17P13.3 Microduplication Syndrome
Frontal bossing, Wide nose, Congenital hip dislocation, Inguinal hernia, Hypertelorism, High pala... ORPHA:217385
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly OMIM:617967
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Micrognathia, Abnormality of the sple... ORPHA:1834
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Situs inversus totalis, Secundum atrial septal defect, Aglossia, Cleft p... OMIM:202650
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Sensorineural hearing impairment, Brachycephaly, Wide na... ORPHA:228399
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate,... ORPHA:1327
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Clinod... OMIM:200990
De Barsy Syndrome
Decreased muscle mass, Cerebellar vermis hypoplasia, Congenital hip dislocation, Brachycephaly, P... ORPHA:2962
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Unilateral vertebral artery hypoplasia, Dextrocardia,... OMIM:613686
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Gastroesophageal reflux, Mic... OMIM:617360
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... ORPHA:99125
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Simplified ... ORPHA:96121
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Hypoplastic right heart, Ventricular septal defect, Microcephaly, Overlap... OMIM:618142
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Prominent nasal bridge, Microcephaly, Macro... OMIM:605013
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Coloboma, High palate, Short ... OMIM:309500
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoplasia of the pons, Brachycephaly, Downturned corners of mou... ORPHA:468678
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Bicuspid aortic valve, Coloboma, Gastroesophageal reflux, Atrial septal defect, ... ORPHA:353281
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Microcephaly, Micrognathia, Brachycephaly, Hig... ORPHA:1913
Desmosterolosis
Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... ORPHA:35107
Anencephaly 2
Median cleft lip, Anophthalmia, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... OMIM:619452
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... OMIM:612541
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairm... OMIM:611209
1Q21.1 Microduplication Syndrome
Frontal bossing, Hypertelorism, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Ga... ORPHA:250994
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Thin upper lip vermilion, Wide nose, Overriding aorta, Abnormal pinna morphology, Bicuspid aortic... ORPHA:477817
3C Syndrome
Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve ... ORPHA:7
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, High, narrow palate, ... OMIM:122470
Pagod Syndrome
Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Situs inversus totalis... ORPHA:991
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Broad hallux phalanx, Toe clinodactyly, Dental crowding, Anteverted na... ORPHA:251019
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Crowded... ORPHA:2063
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Shallow orbits, Clinodactyly of the ... ORPHA:1272
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arte... ORPHA:77298
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lobatio... ORPHA:818
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Atrial septal de... ORPHA:261330
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... OMIM:614669
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Upli... ORPHA:261537
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Thrombocytopen... OMIM:185070
Bohring-Opitz Syndrome
Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Gastroesophageal reflux, Atrial s... OMIM:605039
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, 2-3 toe syndactyly, Cutane... OMIM:236500
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia ORPHA:66630
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Microcephaly, Micrognathia, Recurrent pneumonia, Protruding ear, Gastroe... ORPHA:1495
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Multiple joint contractures, Holoprosencephaly OMIM:306990
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Hypoplasia of the thymus, Hypertelorism, Leukocytosis, Hematochezia, Congenital pu... OMIM:243150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Gastroesophageal ref... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Gastroesophageal ref... ORPHA:353277
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Sandal gap, Microcephaly, Tapered finger, Cleft lip, Hypertelorism, Sma... OMIM:618089
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Frontal bossing, Ventricular septal defect, Pectus excavatum, Patent du... OMIM:618330
Ring Chromosome 21 Syndrome
Short stature, Holoprosencephaly, Abnormal heart morphology ORPHA:1445
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Abnormal lu... OMIM:312870
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hypertelorism, Cryptorchidism, Sensorineural he... ORPHA:36
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares,... ORPHA:220493
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Dextrocardia, Missing ribs, Camptodactyly of finger, Mening... ORPHA:1759
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Partial agenesis of the corpus callosum, Brachyce... OMIM:135900
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Porencephalic cyst, Microcephaly ORPHA:254351
Lambotte Syndrome
Ventricular septal defect, Microcephaly, Hypertelorism, Retrognathia, Atresia of the external aud... OMIM:245552
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Hypoplasia of ... ORPHA:861
Meckel Syndrome, Type 2
Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Midface retrusion, Recurrent respiratory infections, Anteverted nares, Apla... ORPHA:1790
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
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Congenital dia... OMIM:601163
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular cana... ORPHA:138
Chromosome 4Q21 Deletion Syndrome
Frontal bossing, Dolichocephaly, Hypertelorism, Narrow mouth, Sensorineural hearing impairment, D... OMIM:613509
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Convex nasal ri... OMIM:619322
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,... OMIM:173800
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Protruding ear, Downturned corners of mouth, Coloboma, Gastroesophageal re... ORPHA:329224
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Micrognathia, Abnormality of the gingiva, Osteopathia striata, Increased axial length of the glob... ORPHA:513456
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hypoplastic ili... OMIM:139210
Mowat-Wilson Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Upli... ORPHA:2152
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Abnormality of the dentition, Underde... ORPHA:2315
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, Clinodactyly of ... ORPHA:228190
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Atrial septal defect, Anteverted nares, Microcephaly, Precocious pub... OMIM:619356
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Hydrolethalus Syndrome 1
Micrognathia, Abnormal lung lobation, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Wa... OMIM:236680
Teebi-Shaltout Syndrome
High, narrow palate, Oligodontia, Small earlobe, Prominent palatine ridges, Caudal appendage, Syn... OMIM:272950
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarctation of aor... ORPHA:261243
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach... OMIM:201000
19P13.3 Microduplication Syndrome
Prominent nose, Micrognathia, Short philtrum, Gastroesophageal reflux, Precocious puberty, Microt... ORPHA:447980
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... OMIM:616037
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Agenesis of corpus callosum, Bifid uvula, Arachnodactyly, ... ORPHA:2461
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Orofacial cleft, Iris coloboma, Dand... ORPHA:1647
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa... OMIM:619472
Al-Raqad Syndrome
Thin upper lip vermilion, Sandal gap, Microcephaly, Deeply set eye, Low-set ears, Narrow mouth, A... OMIM:616459
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Cerebral white matter atrophy, Proximal placement... ORPHA:435638
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Bicuspid aortic valve, Upli... ORPHA:261552
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Encephalomalacia, Gastroesophageal reflux, Aspirati... ORPHA:354
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He... OMIM:613807
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Reduced cerebral white matter volume, Clinodactyly, Brachycephaly, Short philtr... OMIM:280000
Tetralogy Of Fallot
Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Proptosis, Dolichocephaly, Clin... ORPHA:3303
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Orofacial cleft, Chorioretinal coloboma, Pachygyria, Agenesis of corpus ca... OMIM:243310
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
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b... ORPHA:90652
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Posteriorly rotated ears, Anteverted nares, Microcephaly, Ventricular se... OMIM:618506
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Spinal muscular atrophy, Hypertelorism, Secundum atrial septal defect, Patent ... OMIM:616866
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Micrognathia, Brachycephaly, High palate, Atrial septal defect, Clino... OMIM:244450
Chromosome 14Q11-Q22 Deletion Syndrome
Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro... OMIM:613457
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, M... ORPHA:2255
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Hypertelorism, Cryptorchidism, Bulbous nose, Clinodactyl... OMIM:616789
1Q21.1 Microdeletion Syndrome
Deeply set eye, High palate, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris co... ORPHA:250989
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Protein-losin... ORPHA:79076
Fg Syndrome Type 1
Dental crowding, Prominent nose, Micrognathia, Fused teeth, High palate, Gastroesophageal reflux,... ORPHA:93932
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Hypertelorism, Postaxial hand polydactyly, Brach... ORPHA:66625
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Subcortical cerebral atrophy, Abnormal thymus morphology, High palate, Small hypoth... ORPHA:2463
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Frontal bossing, Bicuspid aortic valve, Patent ductus arteriosus, Scaph... OMIM:619149
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, A... OMIM:228520
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Tented upper lip vermilion, Secundum atrial septal defect, Deeply set eye, Gastroesophageal reflu... OMIM:600987
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Micrognathia, Flexion contracture, Encephalocele, Cryptorchidism, Wide nasal ... ORPHA:1865
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Flat occiput, Dental crowding, Micrognathia, Tibial bowing, Deeply set eye, Coloboma, High palate... ORPHA:251028
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Large fleshy ears, High palate, Gastroesophageal reflux, Atrial septa... ORPHA:280633
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ... ORPHA:99050
Galloway-Mowat Syndrome 3
Micrognathia, Simplified gyral pattern, Deeply set eye, High palate, Pachygyria, Arachnodactyly, ... OMIM:617729
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral cryptorchidism, Hypert... OMIM:618652
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Congenital diaphragmatic h... OMIM:309801
Ciliary Dyskinesia, Primary, 38
Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinitis, Conductive hearing impairment, Ch... OMIM:618063
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Isolated Dandy-Walker Malformation
Encephalocele, Frontal bossing, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Prominen... ORPHA:217
Kabuki Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, Coloboma, High palate, Widely s... ORPHA:2322
Cerebrocostomandibular Syndrome
Cerebral calcification, Hydranencephaly, Ventricular septal defect, Spina bifida, Microcephaly, M... ORPHA:1393
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Gastroesophageal reflux, Thickened helices, Atrioventric... OMIM:619480
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Developmental And Epileptic Encephalopathy 70
Microcephaly, Hypertelorism, Cryptorchidism, Flexion contracture, Low-set ears, Narrow mouth, Cer... OMIM:618298
Iniencephaly
Omphalocele, Encephalocele, Rocker bottom foot, Congenital diaphragmatic hernia, Abnormal occipit... ORPHA:63259
Hennekam Syndrome
Abnormal oral mucosa morphology, Short philtrum, Conductive hearing impairment, Pachygyria, Finge... ORPHA:2136
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Hypotelorism, Downturned corners of mouth, Oligodontia, Hypoplasia of the brainstem... ORPHA:391408
X-Linked Intellectual Disability, Nascimento Type
Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Deep philtrum, Downturned ... ORPHA:163956
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Micrognathia, High palate, Emphysema, Prominence of the premaxil... OMIM:614437
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Down-sloping shoulders, Microcephaly, Pectus excavatum, Cryptorchidi... OMIM:616817
Monosomy 9P
Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Anotia... ORPHA:261112
Coffin-Siris Syndrome 6
Frontal bossing, Atrial septal defect, Posteriorly rotated ears, Depressed nasal bridge, Broad na... OMIM:617808
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Trisomy 18P
Abnormal pinna morphology, Facial palsy, Underdeveloped nasal alae, Microcephaly, High, narrow pa... ORPHA:1715
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Deep philtrum, High palate, Widely spaced teeth, Thickened helices, Atrial septal defect, Patent ... OMIM:617506
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Hypertelorism, Complete atrioventricular canal defect, Doubl... OMIM:217095
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Brachycephaly, T lymphocytopenia, Contract... OMIM:618223
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contrac... ORPHA:171719
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosenceph... OMIM:609637
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Bicuspid aortic valve, Hypertelorism, Diastema, Cryptorchidism, Patent ... OMIM:615009
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foo... OMIM:614120
Turnpenny-Fry Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Brachycephaly, Prominent in... OMIM:618371
Lujan-Fryns Syndrome
Macroorchidism, Dental crowding, Prominent nasal bridge, Arachnodactyly, Abnormality of the denti... ORPHA:776
Charlie M Syndrome
Finger syndactyly, Micrognathia, Hypertelorism, Non-midline cleft lip, Split hand, Wide nasal bri... ORPHA:1406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Flexion contracture, Dilated cardiomyopath... OMIM:253800
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Anophthalmia, Abnormal thymus m... OMIM:219000
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Aqueduct... OMIM:619512
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Abnormal hemidiaphragm mor... ORPHA:980
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypopl... OMIM:206900
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia, Metaphysea... ORPHA:536471
Proximal 16P11.2 Microduplication Syndrome
Abnormal basal ganglia MRI signal intensity, Thin upper lip vermilion, Frontal bossing, Arachnoda... ORPHA:370079
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Down Syndrome
Brachycephaly, Hypoplastic iliac wing, Atrial septal defect, Conductive hearing impairment, Atrio... OMIM:190685
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Microphthalmi... OMIM:602361
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, ... OMIM:164180
White Forelock With Malformations
Atrial septal defect, Hypertelorism, Prominent veins on trunk, Aplasia/Hypoplasia of the distal p... OMIM:277740
Walker-Warburg Syndrome
Skeletal muscle atrophy, Anophthalmia, Protruding ear, Pachygyria, Agenesis of corpus callosum, B... ORPHA:899
Muscle-Eye-Brain Disease
Myopathy, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Turricephaly, Micrognathia, Metatarsus adductus, C... OMIM:214110
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Micrognathia, Calcaneovalgus deformity, Flexion contracture, Brachycephaly, High palate, Gastroes... ORPHA:562528
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, ... OMIM:157800
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Long nose, Hypoplasia of ... OMIM:309520
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Microcephaly, Patent ductus arteriosus, Scaphocepha... OMIM:614886
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormality of the philtrum, Microcephaly, Abnormality of the dentition, Abnor... ORPHA:276422
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia, Dental malocclusion, Wide m... OMIM:612731
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ... ORPHA:373
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Hernia, Iris co... ORPHA:955
Zechi-Ceide Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Short metatarsal, Downturned corners of mout... ORPHA:217017
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Prominent nasal bridge, Cam... ORPHA:1703
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia, Situs inversus totali... OMIM:606763
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Partial agenesis of the corpus callosum, Short philtrum, Gastroesophageal reflux, A... OMIM:620250
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Depressed nasal bridge, Hypergonadotropic hypogonadism, Congenital diaphragmatic... ORPHA:250999
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Atrial septal defect, Cl... OMIM:617061
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... ORPHA:1972
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Abnormal heart morphology, Emph... OMIM:614100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Osteolysis in... ORPHA:371428
Fontaine Progeroid Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, High, n... OMIM:612289
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr... OMIM:267000
Combined Oxidative Phosphorylation Deficiency 31
Depressed nasal bridge, Anteverted nares, Microcephaly, Micrognathia, Bulbous nose, Wide mouth, D... OMIM:617228
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Clinodactyly, Brachycephaly, Downturned corners of mouth, High palate, Wid... ORPHA:369891
Suleiman-El-Hattab Syndrome
Protruding ear, Downturned corners of mouth, High palate, Atrial septal defect, Patent foramen ov... OMIM:618950
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Low-set, posteriorly rotated ears, Abnormality of the nose, Micrognathia, Whistling appearance, P... ORPHA:1150
Ververi-Brady Syndrome
Thin upper lip vermilion, Wide nose, Prominent nose, Broad nasal tip, Microcephaly, Bulbous nose,... OMIM:617982
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Prominent nasal bridge, Ventricular septal defect, Overlapping toe, Paten... OMIM:618974
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Ab... ORPHA:1104
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... OMIM:620107
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... ORPHA:84064
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Broad skull, Intracranial hemorrhage, Short philtrum, At... ORPHA:163979
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal lung lobation, Aplasia/Hypoplasia of the corpus callosum, Abno... ORPHA:1705
Raine Syndrome
Mandibular prognathia, Cerebral calcification, Micrognathia, Brachycephaly, Protruding ear, High ... OMIM:259775
Tetrasomy 9P
Myositis, Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, Deeply set... ORPHA:3310
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Secundum atrial septal defect, Bilateral cryptorchidism, ... OMIM:616268
Craniofacioskeletal Syndrome
Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B... OMIM:300712
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye,... OMIM:615984
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Wide nose, Bicuspid aortic valve, Ventricular septal defect, Sandal gap... OMIM:616652
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Congenital Myopathy 16
Scapular winging, Micrognathia, Flexion contracture, Prominent nasolabial fold, High palate, Narr... OMIM:618524
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Doli... OMIM:617752
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Parietal bossing, Patent ... OMIM:619343
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Temple-Baraitser Syndrome
Wide nose, Depressed nasal bridge, Broad hallux, Proximal placement of thumb, Hypertelorism, Addu... OMIM:611816
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Short stature, Holoprosencephaly OMIM:619033
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Hypoplasia of the brainstem, Abnormal periventricular white matter morphol... ORPHA:500159
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Microcephaly, High, narrow palate, Microgna... ORPHA:2516
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Abnormal pinna morphology, Hypertelorism, Pericardial effusion, Periana... OMIM:614684
Potocki-Lupski Syndrome
Mandibular prognathia, Atrial septal defect, Dental crowding, Microcephaly, Oral-pharyngeal dysph... OMIM:610883
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Conical incisor, Atrial septal defect, Microdontia, Emphysema, A... ORPHA:289
Fryns Syndrome
Tented upper lip vermilion, Ectopic pancreatic tissue, Proximal placement of thumb, Atrial septal... OMIM:229850
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Nasal polyposis, Dextrocardia, Situs inversus totalis, Bronchie... OMIM:615444
Neurodevelopmental Disorder With Spasticity And Poor Growth
Flat occiput, Tented upper lip vermilion, Reduced cerebral white matter volume, Prominent nose, H... OMIM:618076
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Microcephaly, Micrognathia, Splenomegaly, Depressed nasal ridge, Aplasia/Hypoplasia o... ORPHA:1046
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, Hypotel... ORPHA:1225
Proteus Syndrome
Depressed nasal bridge, Facial hyperostosis, Splenomegaly, Mandibular hyperostosis, Macrocephaly,... OMIM:176920
Zttk Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downtur... OMIM:617140
8P23.1 Duplication Syndrome
Wide nose, Toe syndactyly, Ventricular septal defect, Hypertelorism, Deeply set eye, Thick vermil... ORPHA:251076
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Cerebellar vermis hypoplasia, Rocker bottom foot, Tapered finger, Carious teeth, Pericardial effu... OMIM:620070
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Hypotelorism, Do... OMIM:264090
19P13.13 Microdeletion Syndrome
Brachycephaly, Deeply set eye, High palate, Anteverted nares, Depressed nasal bridge, Hypertelori... ORPHA:357001
Xq28 (MECP2) duplication
Recurrent respiratory infections, Depressed nasal bridge, Microcephaly, Brachycephaly, Dysphagia,... DECIPHER:45
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Broad nasal tip, M... ORPHA:3306
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Spin... OMIM:617877
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Pineal cyst, Widely spaced te... OMIM:300967
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, Bicus... ORPHA:284169
Ctcf-Related Neurodevelopmental Disorder
Deeply set eye, Short philtrum, Gastroesophageal reflux, Joint contracture of the 5th finger, Atr... ORPHA:363611
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Protruding ear, High palate, Low-set, posteriorly rotated ears, Microretro... ORPHA:2953
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Brachydactyly, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short to... OMIM:614078
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Hydrocephalus, Ul... ORPHA:1895
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Downturned corners of mouth, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly... OMIM:220500
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Atrial septal defect, Hepatomegaly, Pancytopenia, Dextrocardia, Megalob... OMIM:277380
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Abnormal lung lobation, ... ORPHA:508488
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Dental crowding, Knee flexion contracture, Deeply set eye, Hypoplasia of t... OMIM:193700
Coffin-Siris Syndrome 2
High palate, Short philtrum, Dandy-Walker malformation, Anteverted nares, Depressed nasal bridge,... OMIM:614607
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i... OMIM:615994
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Short philtrum, Agenesis of corpus ca... ORPHA:96176
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, Brachycephaly, High palate, Widely spac... OMIM:300260
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... ORPHA:1354
Chromosome 5Q12 Deletion Syndrome
Long toe, Frontal bossing, Posteriorly rotated ears, Ventricular septal defect, Prominent nose, M... OMIM:615668
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Overlapping toe, Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate,... ORPHA:457365
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Flat occiput, Flexion contracture, Brachycephaly, Protruding ear, High palate, Atrial septal defe... OMIM:617452
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... OMIM:611812
Cerebrofacioarticular Syndrome
Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the maxilla, Anter... ORPHA:314679
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Micrognathia, Secundum atrial septal defect, Gastroesophageal reflux, He... OMIM:608779
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... ORPHA:139466
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Cerebral calcification, Depressed nasal bridge, Hypertelorism, Decreased proportion of CD8-positi... OMIM:617241
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Li-Campeau Syndrome
Ventricular septal defect, Hypertelorism, Hypothyroidism, Patent ductus arteriosus, Gastrointesti... OMIM:619189
Noonan Syndrome 11
Relative macrocephaly, Posteriorly rotated ears, Depressed nasal bridge, Hypertelorism, Pectus ex... OMIM:618499
Cat Eye Syndrome
Micrognathia, Biliary atresia, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, Hyper... OMIM:115470
Gaucher Disease, Type Ii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Trismus, Cerebral atrophy, Anemia, Gastroesophageal... OMIM:230900
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv... OMIM:164210
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Frontal bossing, Dental crowding, Anteverted ... OMIM:145420
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Micrognathia, Dilated cardiomyopathy... OMIM:615959
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Microcephaly, Micrognathia, Hydrocephalus, Cleft palate, Hypoplasi... OMIM:225790
Glass Syndrome
Dental crowding, Anterior tibial bowing, Conical tooth, Long nose, Micrognathia, Oligodontia, Hig... OMIM:612313
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Micrognathia, Protruding ear, Deeply set eye, High palate, Short philtrum, Gastroesophageal reflu... OMIM:618443
Acromicric Dysplasia
Short palm, Short metacarpal, Anteverted nares, Narrow mouth, Deep philtrum, Thick lower lip verm... OMIM:102370
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat... OMIM:612561
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, High palate, Short philtrum, Prominent fingertip pads, Clinodactyly ... OMIM:300963
Hartsfield Syndrome
Encephalocele, Intrauterine growth retardation, Lobar holoprosencephaly ORPHA:2117
Alzahrani-Kuwahara Syndrome
Prominent nose, Micrognathia, Atrial septal defect, Cavum septum pellucidum, Patent foramen ovale... OMIM:619268
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... OMIM:234100
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Bowing of the legs, Micrognathia, Quadriceps... OMIM:255800
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... OMIM:601808
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely... ORPHA:363417
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Abnormal tongue physiology, Anteverted ears, Microcephaly, Wide mouth, Dee... ORPHA:544254
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Narrow mouth, Hip dysplasia, Tongue fasciculations, Facial myokymia, Progressive microcephaly OMIM:620007
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Intestinal malrotation, Micrognathia, Hypertelorism, Patent ductus arteriosus, Bila... ORPHA:2001
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal placement of th... OMIM:613406
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Accessory oral frenulum, Absent tragus, Micrognathia, Conductive hearing im... ORPHA:79113
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Microcephaly, Thrombocytopenia, Patent ductus arteriosus... ORPHA:290
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Depressed nasal bridge, Microcephaly, Pectus excavatum, Narrow mouth, L... OMIM:156610
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Hepatomegaly, Depressed nasal bridge, Microcephaly, Pericardial effusion, Hypert... OMIM:608776
Meier-Gorlin Syndrome 7
Bowing of the legs, Anteriorly placed anus, Copper beaten skull, High palate, Atrial septal defec... OMIM:617063
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Hypotelorism, Downturned corners of mou... ORPHA:2215
Distal Arthrogryposis Type 1
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... ORPHA:1146
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Weaver-Williams Syndrome
Microcephaly, Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micrognathia, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion contracture, Do... OMIM:300868
1P36 Deletion Syndrome
Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Deeply set eye, Abnormality of t... ORPHA:1606
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteriorly placed anus, Thickened helices, Cloverleaf skull, Anteverted nares, Depressed nasal br... ORPHA:1555
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Protrudin... OMIM:609625
Ramos-Arroyo Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Hypertelorism, ... ORPHA:1051
Freeman-Sheldon Syndrome
Camptodactyly of finger, Abnormality of the dentition, Underdeveloped nasal alae, Narrow mouth, C... ORPHA:2053
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Abnormal lung lobation, Orofacial cleft, High pala... ORPHA:958
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Anteverted ears, Protruding ear, Gastroesophageal reflux, Atrial septal de... ORPHA:459070
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Mandibular prognathia, Bicuspid aortic valve, Brachycephaly, Gastroesophageal reflux, Prominent f... OMIM:619721
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ... OMIM:240300
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Hypotelorism, Deeply set eye, High palate, Narrow greater sciatic notch, Conductive... OMIM:602471
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the semicircula... ORPHA:251061
Malan Overgrowth Syndrome
Frontal bossing, Depressed nasal bridge, Optic disc hypoplasia, Pectus excavatum, Scaphocephaly, ... ORPHA:420179
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Micrognathia, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Hypertelorism... OMIM:608013
Neurooculorenal Syndrome
Decreased circulating cortisol level, Cerebellar vermis hypoplasia, Ectopic posterior pituitary, ... OMIM:620305
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... OMIM:253300
Tetraamelia Syndrome 1
Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Asplenia, Micrognathia, Hydroc... OMIM:273395
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Brachycephaly, Conotruncal defect, Downturned corners of mouth, Subcortical cerebra... ORPHA:96147
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hal... OMIM:614749
Al Kaissi Syndrome
Thin upper lip vermilion, Atrial septal defect, Torticollis, Macrodontia, Posteriorly rotated ear... OMIM:617694
Microphthalmia With Limb Anomalies
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n... ORPHA:1106
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, H... OMIM:617159
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Finger joint hypermobility, Atrial septal defect, Patent foramen ovale, Long philtrum, Microretro... OMIM:618870
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... OMIM:602483
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Downturned corners of mouth, Short philtrum, Microdontia, Clinodactyly of ... OMIM:618027
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Chronic sinusitis, Abdominal situs inversus, Dextrocardia OMIM:619607
Trichohepatoenteric Syndrome 1
Villous atrophy, Depressed nasal ridge, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Anteverted n... OMIM:222470
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Downturne... ORPHA:79500
Kagami-Ogata Syndrome
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defect, Hepatomegaly,... OMIM:608149
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front... ORPHA:436003
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Choanal atres... ORPHA:83
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Flat occiput, Brachycephaly, High palate, Atrial septal ... ORPHA:505237
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Hypotel... ORPHA:536545
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Widely spaced teeth, Atrial septal def... ORPHA:459061
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Acrocardiofacial Syndrome
Atrial septal defect, Finger syndactyly, Hyperthyroidism, Cleft upper lip, Hypertelorism, Cryptor... ORPHA:2008
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Inguinal hernia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the ... ORPHA:1101
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Protruding ear, Deeply set... OMIM:613458
15Q14 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition,... ORPHA:261190
Thanatophoric Dysplasia
Frontal bossing, Brachydactyly, Cloverleaf skull, Depressed nasal bridge, Abnormal sacroiliac joi... ORPHA:2655
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower... OMIM:249670
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... OMIM:265000
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving ta... OMIM:166300
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Brachycephaly, Deeply set ey... OMIM:257850
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta OMIM:182940
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Mild microcephaly, Deeply set eye, Atrial septal defect, Thick upper lip vermilion, Th... ORPHA:363444
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Hepatomegaly, Finger syndactyly, Ventricular septal defect, Aortopulmonary coll... OMIM:620025
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventric... OMIM:615996
Mandibulofacial Dysostosis, Guion-Almeida Type
Proximal placement of thumb, Micrognathia, Deep philtrum, Atrial septal defect, Conductive hearin... OMIM:610536
Restrictive Dermopathy
Multiple joint contractures, Micrognathia, Atrial septal defect, Aplasia/Hypoplasia involving the... ORPHA:1662
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Microretrognathia, Ventricular septa... ORPHA:457193
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Recombinant 8 Syndrome
Micrognathia, Downturned corners of mouth, Clinodactyly of the 5th finger, Atrial septal defect, ... ORPHA:96167
Kapur-Toriello Syndrome
Atrial septal defect, Conductive hearing impairment, Pachygyria, Iris coloboma, Cleft upper lip, ... OMIM:244300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Coxa vara, Hypotelorism, Gastroesophageal reflux, Clinodactyly of the 5th finger, ... OMIM:614701
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Congenital diaphragmatic h... OMIM:606164
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Flexion contracture, Short philtrum, Widely spaced teeth, Gastroesophagea... OMIM:619293
Neurocardiofaciodigital Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Patent ductus arteriosus, Retrognathia, D... OMIM:619869
Tarp Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Atrial septal defect, Ante... OMIM:311900
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat... OMIM:618651
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Proximal placement of thumb, Long nose, Partial agenesis of the corpus callosum, High palate, Pul... OMIM:620113
German Syndrome
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Brachycephaly, Oro... ORPHA:2077
Aredyld Syndrome
Low-set, posteriorly rotated ears, Craniofacial hyperostosis, Hepatomegaly, Mandibular prognathia... ORPHA:1133
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
15Q11.2 Microdeletion Syndrome
Thick cerebral cortex, Abnormal pinna morphology, Ventricular septal defect, Microcephaly, Coarct... ORPHA:261183
Acromicric Dysplasia
Short palm, Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermi... ORPHA:969
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Lipodystrophy, Narrow mouth, Cryptorchidism, F... ORPHA:75496
Luo-Schoch-Yamamoto Syndrome
Wide nose, Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Hypertelorism, Sm... OMIM:619460
Distal Deletion 10Q
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly, Short metatarsal, Brach... ORPHA:96148
C Syndrome
Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Hepatomegaly, ... OMIM:211750
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Micrognathia, Long nose, T lymphocytopenia, Deeply set eye, Narrow greater sciatic notch, Short p... ORPHA:508533
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasi... ORPHA:468631
Mowat-Wilson Syndrome
Uplifted earlobe, Large basal ganglia, Deeply set eye, Widely spaced teeth, Chorioretinal colobom... OMIM:235730
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Microcephaly, Cryptorchidism, Senso... ORPHA:139471
Ring Chromosome 7 Syndrome
Mandibular prognathia, Brachycephaly, Hypotelorism, Short philtrum, Holoprosencephaly, Clinodacty... ORPHA:1449
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... ORPHA:363705
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Cervical lympha... OMIM:614034
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Short p... OMIM:608612
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Prominent nose, Micrognathia, Hypert... OMIM:201170
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Cerebral calcification, Micrognathia, High, narrow palate, Brachycephaly, Large ili... ORPHA:2780
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypertelo... ORPHA:1529
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Brachycephaly, High palate, Bilateral coxa val... OMIM:615582
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Arachnodactyly, Sandal gap, Microcep... OMIM:616938
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Dysplastic corpus callosum, Patent foramen ovale, Depresse... OMIM:616854
Cog1-Cdg
Cerebellar vermis hypoplasia, Micrognathia, High palate, Low-set, posteriorly rotated ears, Hyper... ORPHA:263508
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Atrial... OMIM:121050
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Dental crowding, Hypoplasia of the pons, Deep philtrum, High palate, Atrial septal defect, Aplasi... ORPHA:397709
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Cornelia De Lange Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Downtu... ORPHA:199
Snijders Blok-Campeau Syndrome
Frontal bossing, Inguinal hernia, Prominent nose, Hypertelorism, Wide nasal bridge, Thin corpus c... OMIM:618205
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Atrial se... ORPHA:464738
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Brachycephaly, Clinodactyly of the 5th finger, Agenesis of corpu... OMIM:304110
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, High palate, Conductive hearing impairment, Premature loss ... OMIM:102500
Feingold Syndrome Type 1
Micrognathia, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Conductive ... ORPHA:391641
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Ab... OMIM:616737
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Thiam... OMIM:249270
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Campto... ORPHA:137834
Tarp Syndrome
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Lo... ORPHA:2886
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Prominent nose, Brachycephaly, Hypotelorism, Atrial septal defect, Bifid uvula, Dandy-Walker malf... OMIM:300968
Ayme-Gripp Syndrome
Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Tapered finger, Hypertelorism, Wide... OMIM:601088
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Clinodactyly, Downturned corners of mouth, Anteriorly plac... OMIM:616894
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Deeply set eye, Anemia ORPHA:3204
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Robinow Syndrome
Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Sy... ORPHA:97360
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Reduced cerebral white matter volume, Microcephaly, Hypertelorism, Narrow mouth, Wide nasal bridg... OMIM:617333
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced te... ORPHA:192
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... OMIM:619769
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebell... ORPHA:59315
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Brachycephaly, Dow... ORPHA:264200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... OMIM:619503
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Proximal placement of thumb, Micrognathia, Brachycephaly, Downturned corne... OMIM:610759
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flat occiput, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Flexion contracture, High... OMIM:619383
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, High palate, Small earlobe, Anteverted nares, Depressed nasal bridge, ... OMIM:608156
Cockayne Syndrome Type 2
Mandibular prognathia, Hepatomegaly, Anophthalmia, Scarring, Delayed eruption of primary teeth, H... ORPHA:90322
Mesomelia-Synostoses Syndrome
Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodac... ORPHA:2496
Down Syndrome
Depressed nasal ridge, Brachycephaly, Downturned corners of mouth, Conductive hearing impairment,... ORPHA:870
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Microcephaly, Secundum atrial septal defect, Erythroid hypoplasia, Thr... OMIM:620072
Distal Duplication 6P
Frontal bossing, Prominent nasal bridge, Micrognathia, Aplasia/Hypoplasia of the earlobes, Abnorm... ORPHA:1745
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Cran... OMIM:300373
Kapur-Toriello Syndrome
Posteriorly rotated ears, Ventricular septal defect, Intestinal malrotation, Pachygyria, Dysplast... ORPHA:2328
Abruzzo-Erickson Syndrome
Atrial septal defect, Toe syndactyly, Cryptorchidism, Sensorineural hearing impairment, Short toe... ORPHA:921
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Congenital diaphragmatic hernia, Hearing impairment ORPHA:438134
19P13.12 Microdeletion Syndrome
Brachycephaly, Short palm, Atrial septal defect, Conductive hearing impairment, Clinodactyly of t... ORPHA:254346
Focal Dermal Hypoplasia
Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteop... OMIM:305600
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Brachydactyly, Abnormal pin... OMIM:610253
Sotos Syndrome
Mandibular prognathia, High, narrow palate, Partial agenesis of the corpus callosum, High palate,... OMIM:117550
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo... ORPHA:2588
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni... OMIM:219100
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Depressed ... OMIM:613849
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Cleft lip, Cleft... OMIM:616898
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Mosaic Trisomy 16
Maternal diabetes, Abnormal lung morphology, Anteriorly placed anus, Atrial septal defect, Syndac... ORPHA:1708
Hallermann-Streiff Syndrome
Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis, Rib exostoses, Clinodactyly of th... ORPHA:2108
2P15P16.1 Microdeletion Syndrome
Brachycephaly, Protruding ear, High palate, Facial palsy, Tapered finger, Wide nasal bridge, Low-... ORPHA:261349
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Depressed nasal bridge, Ventricular septal defect, Thrombocytopenia, ... OMIM:606003
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Micrognathia, Horizontal ribs, Cryptorchidism, Patent ductus arteriosus, Hyperte... OMIM:614857
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... OMIM:617402
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, High, narrow palate, Deeply set eye, High palate, Short philtrum, ... OMIM:619312
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Prominent nose, Coxa vara, Hypoplastic iliac wing, Atrial ... ORPHA:2637
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Clinodactyly, Cerebral atrophy, Coarctation of aorta, S... OMIM:618164
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Knobloch Syndrome
Occipital encephalocele, Depressed nasal bridge, Dextrocardia, Pyloric stenosis, Patent ductus ar... ORPHA:1571
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Ventricular septal defect, Hypertelorism, Hypoplasia of the maxilla, Cl... OMIM:614261
2Q31.1 Microdeletion Syndrome
Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Coloboma, Sh... ORPHA:251014
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Micrognathia, Clinodactyly, Flexion contracture, Brachycephaly, Protrudi... OMIM:309590
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Midface retrusion, Hepatic cysts OMIM:613095
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Meier-Gorlin Syndrome 8
Micrognathia, Bilateral cryptorchidism, Microtia, Thick vermilion border, Low-set ears, Narrow mouth OMIM:617564
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Alg9-Cdg
Villous atrophy, Micrognathia, Abnormal lung lobation, Brachycephaly, Large fleshy ears, Right ve... ORPHA:79328
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Overlapping toe, Rocker bottom foot, Cryptorchidism,... OMIM:108120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypo... OMIM:619841
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Hypertelorism, Wide nasal bridge, Cleft palate, Protruding ear, Plagio... ORPHA:1973
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Prominent nasal bridge, Ventricular septal defect, Aganglionic megacolo... OMIM:613870
Ohdo Syndrome, X-Linked
Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Depressed nasal brid... OMIM:300895
Kabuki Syndrome 2
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Atrial septal defect, Atriov... OMIM:300867
Baller-Gerold Syndrome
Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Choanal st... OMIM:218600
Chromosome 1P35 Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Microcephaly, Micrognathia, Cryptorchidism, S... OMIM:617930
Warburg Micro Syndrome 4
Decreased testicular size, Decreased muscle mass, Anteverted nares, Prominent nasal bridge, Narro... OMIM:615663
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Missing ribs, Micrognathia, Cryptor... ORPHA:3301
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Congenital diaphragmatic hernia, Unde... ORPHA:412035
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Microcephaly, Absent thumb, Absent radius, Short tibia, Humeroradial... OMIM:251230
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Gastroesophageal ref... OMIM:620186
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... ORPHA:521308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Coloboma, Oligo... ORPHA:453499
Prune Belly Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Intestin... ORPHA:2970
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Abnormal pinna morphology, Hypertelorism, Retrognathia, Orofacial cleft... OMIM:614583
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Microcephaly, Hypothyroidism... ORPHA:293939
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Anteverted nares, Hearing impairment, Bicuspid aortic valve, Ventricular... OMIM:618619
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Schilbach-Rott Syndrome
Posteriorly rotated ears, Prominent nose, Long nose, Microcephaly, 2-3 toe cutaneous syndactyly, ... OMIM:164220
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol... ORPHA:449400
Jacobsen Syndrome
Flat occiput, Micrognathia, Flexion contracture, Holoprosencephaly, Chorioretinal coloboma, Atria... OMIM:147791
Neuralgic Amyotrophy
Scapular winging, Cleft palate, Narrow mouth ORPHA:2901
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Splenomegaly, Cleft pa... OMIM:620210
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Narrow nasal ridge, Hypertelorism, ... OMIM:219150
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Microcephaly, Hypoplasia of the pons, Atrial septal defect, Thin corpu... OMIM:614249
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Marshall-Smith Syndrome
Irregular dentition, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Anterio... OMIM:602535
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Agenesis of corpus callosum, Abnorma... ORPHA:2556
Cutis Laxa, Autosomal Recessive, Type Iia
Frontal bossing, Inguinal hernia, Congenital hip dislocation, Anteverted nares, Lipodystrophy, Mi... OMIM:219200
Bone Dysplasia, Lethal Holmgren Type
Frontal bossing, Recurrent respiratory infections, Hepatomegaly, Anteverted nares, Metaphyseal dy... ORPHA:1842
Orofaciodigital Syndrome V
Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Hyp... OMIM:174300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Brachycephaly, Finger clinodactyly, Shallow orbits, Depressed nasal bridge, Tapered finger, Hyper... OMIM:601353
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossificati... OMIM:215045
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Proximal placement of thumb, High palate, Thickened helices, Clinodactyly of the 5th finger, Low-... OMIM:604314
Houge-Janssens Syndrome 3
Frontal bossing, Inguinal hernia, Broad nasal tip, Microcephaly, Hypertelorism, Muscular ventricu... OMIM:618354
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Aplasia/... ORPHA:2470
Meckel Syndrome, Type 6
Absent gallbladder, Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Bilobed... OMIM:612284
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Uplifted earlobe, High palate, Short philtrum, Gastroesophageal reflu... OMIM:616449
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High palate, Prominent... OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 66
Toe clinodactyly, Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Brachycephaly,... OMIM:619910
Arthrogryposis, Distal, Type 2B2
Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Short toe, Adducted thumb, Hip dis... OMIM:618435
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depre... OMIM:114290
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Arachnodactyly, Pectus excavatum, Cryptorchidism, Protruding ear, Aort... OMIM:301039
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia, Macrotia OMIM:600776
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... OMIM:614753
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High... OMIM:135500
Noonan Syndrome 2
Micrognathia, High palate, Atrial septal defect, Atrioventricular canal defect, Hypertelorism, Cr... OMIM:605275
Mandibuloacral Dysplasia Progeroid Syndrome
Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Macrovesicular hep... OMIM:619127
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... ORPHA:77301
Nizon-Isidor Syndrome
Thin upper lip vermilion, Prominent fingertip pads, Anteverted nares, Depressed nasal bridge, Pro... OMIM:618872
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Micrognathia, Pectus excavatum, ... ORPHA:1979
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... ORPHA:63260
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... OMIM:246560
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal oral mucosa morphology, Camptodactyl... ORPHA:1968
Mosaic Variegated Aneuploidy Syndrome
Micrognathia, Depressed nasal ridge, Abnormal lung lobation, Holoprosencephaly, Atrial septal def... ORPHA:1052
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Microretrognathia, Prominent ... ORPHA:1307
Microphthalmia, Syndromic 6
Anophthalmia, Uplifted earlobe, Adrenal hypoplasia, Micrognathia, Brachycephaly, Protruding ear, ... OMIM:607932
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Aplasia/Hypoplasia of the ce... ORPHA:75389
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Depressed nasal bridge, Narrow mouth, Cleft palate, Hypotelorism, Deeply... OMIM:162100
Monosomy 18P
Short stature, Short neck, Lymphedema, Low posterior hairline, Holoprosencephaly, Webbed neck ORPHA:1598
Warsaw Breakage Syndrome
Ventricular septal defect, Microcephaly, Hypoplasia of the cochlea, Cupped ear, Optic disc colobo... OMIM:613398
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Autism, Susceptibility To, X-Linked 6
Underdeveloped nasal alae, Short philtrum, Narrow mouth OMIM:300872
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormone stimulati... OMIM:616007
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Ssr4-Cdg
Abnormality of the gastrointestinal tract, Abnormality of upper lip vermillion, Absent septum pel... ORPHA:370927
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Prominent nose, Micrognathia, Partial agenesis of t... OMIM:305450
Alagille Syndrome
Micrognathia, Long nose, Brachycephaly, Protruding ear, Deeply set eye, Short philtrum, Clinodact... ORPHA:52
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Arachnodactyly, Sandal gap,... ORPHA:1035
Koolen-De Vries Syndrome
Bicuspid aortic valve, Anteverted ears, Hypotelorism, High palate, Widely spaced teeth, Atrial se... OMIM:610443
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Microcephaly, Hypertelorism, Cryptorchidism, Bulbous nose, Gastroesophageal refl... ORPHA:466926
Septopreoptic Holoprosencephaly
Megalencephaly, Hypoplasia of the pons, Microcephaly, Precocious puberty, Perisylvian polymicrogy... ORPHA:280195
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Anteverted nares, Depressed nasal bridge, Maturity-onset diabetes of the young, Microg... ORPHA:96184
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Hypertelorism, Deep philtrum, Abnormal rib ... ORPHA:2475
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Preax... ORPHA:2549
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Thin upper lip vermilion, Slender nose, Skeletal muscle atrophy, Microcephaly, Micrognathia, Cryp... OMIM:615419
Beare-Stevenson Cutis Gyrata Syndrome
Flat occiput, Anteriorly placed anus, High palate, Choanal stenosis, Agenesis of corpus callosum,... OMIM:123790
Crisponi/Cold-Induced Sweating Syndrome 1
Short palm, Wide nose, Anteverted nares, Depressed nasal bridge, Facial palsy, Tapered finger, Ca... OMIM:272430
Distal Duplication 17Q
Micrognathia, Protruding ear, High palate, Short philtrum, Low-set, posteriorly rotated ears, Acc... ORPHA:3379
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Micrognathia, Short thumb, Wide nasal bridge, Plagioceph... OMIM:618821
Distal Monosomy 7Q36
Short stature, Holoprosencephaly, Short neck ORPHA:1636
Alazami Syndrome
Wide nose, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Wide mouth, Deeply set eye, R... OMIM:615071
Fraser Syndrome
Cleft ala nasi, Dental crowding, Anophthalmia, Abnormal lung lobation, Orofacial cleft, High pala... ORPHA:2052
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Proximal placement of thumb, Brachycephaly, Long philtrum, Diastema, Gingi... OMIM:212066
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Abnormal occipital bone morphology, Cardiomegaly, Hi... ORPHA:3472
Branchiooculofacial Syndrome
Anophthalmia, Proximal placement of thumb, Micrognathia, Gastroesophageal reflux, Conductive hear... OMIM:113620
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin upper lip vermilion, Abnormally low T cell receptor excision circle level, Eosinophilia, Pro... OMIM:618092
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Prominent nose, Micrognathia, Brachycephaly, Protru... OMIM:612474
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of th... ORPHA:284160
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... ORPHA:2260
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna... OMIM:601803
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Abnormal cortical gyration, Postaxial poly... OMIM:614576
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Brachycephaly, Protruding ear, High palate, Atrial septal defect, Abnormal duodenum morphology, M... OMIM:601776
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Dental crowding, Decreased response to growth hormone stimulation test, Mi... ORPHA:96182
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Micrognathia, Brachycephaly, Atrial septal defect, Agenesis... OMIM:257300
Kleefstra Syndrome
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Brachycephaly, Downturn... ORPHA:261494
Hamamy Syndrome
Microcytic anemia, Micrognathia, Brachycephaly, High palate, Atrial septal defect, Clinodactyly o... OMIM:611174
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr... OMIM:608227
Cardiac Valvular Dysplasia 1
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricus... OMIM:212093
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Cerebral calcification, Anteverted nares, Microcephaly, Cleft li... OMIM:251290
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatarsus addu... OMIM:601680
Wiedemann-Steiner Syndrome
Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Short phalanx of... OMIM:605130
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Diabetes mellitus, Microcephaly, Secundum atrial septal defect, Prominent nose, Cl... OMIM:620194
Harrod Syndrome
Arachnodactyly, Microcephaly, Long nose, Cryptorchidism, Dental malocclusion, Protruding ear, Abn... ORPHA:2115
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Reduced cerebral wh... OMIM:620075
Noonan Syndrome 13
Micrognathia, High palate, Widely spaced teeth, Gastroesophageal reflux, Atrial septal defect, Mi... OMIM:619087
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Ga... OMIM:618268
C Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Biparietal narrowing, Clinodactyly of... ORPHA:1308
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return OMIM:106700
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Hypoplasia of the ulna, Split hand, S... OMIM:200980
Tolchin-Le Caignec Syndrome
Arachnodactyly, Diastasis recti, Prominent nose, Precocious puberty, Micrognathia, Sensorineural ... OMIM:618971
Megalencephaly
Frontal bossing, Macroorchidism, Dolichocephaly, Wide nasal bridge, Genu valgum, Prominent occipu... ORPHA:2477
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Congenital hip dislocation, Bicuspid aortic valve, High palate, ... ORPHA:457279
Toriello-Carey Syndrome
Micrognathia, Partial agenesis of the corpus callosum, Clinodactyly, Anteriorly placed anus, Anot... ORPHA:3338
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bor... ORPHA:1906
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Deep philtrum, Sh... ORPHA:404443
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Hypertel... ORPHA:324581
Cranioectodermal Dysplasia 2
Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, M... OMIM:613610
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Thin upper lip vermilion, Abnormal pinna morphology, Anteverted nares, Congenital diaphragmatic h... OMIM:617641
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, High, narrow palate, Deeply set eye, High palate, Emphysema, Broad uvula, ... OMIM:614816
8P11.2 Deletion Syndrome
Hemolytic anemia, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, External e... ORPHA:251066
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... ORPHA:457395
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Micrognathia, Secundum atrial septal defect, Deep philtrum, Short philtrum, Depressed nasal bridg... OMIM:619951
Tetrasomy 18P
Low-set, posteriorly rotated ears, Microcephaly, Thin vermilion border, Narrow mouth, Short nose,... ORPHA:3307
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcephaly, Venous... ORPHA:90308
Wolcott-Rallison Syndrome
Hepatomegaly, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Microcephaly, ... ORPHA:1667
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Camptodactyly of fin... ORPHA:2021
Atelis Syndrome 1
Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Bronchiectasis, Leuko... OMIM:620184
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... OMIM:241310
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Cryptorchidism, Wide nasal bridge,... OMIM:619595
9Q33.3Q34.11 Microdeletion Syndrome
Wide nose, Abnormal pinna morphology, Epistaxis, Microcephaly, Cryptorchidism, Patent ductus arte... ORPHA:495818
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Gastroes... ORPHA:17
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency, Anencephaly ORPHA:1048
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Microcephaly, Microg... OMIM:224410
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, High palate, Triph... ORPHA:84
Temple-Baraitser Syndrome
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... ORPHA:420561
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Dental crowding, Micrognathia, Cleft hard palate, Clinodactyly of the 5th finger, Conductive hear... OMIM:300990
Hypermethioninemia Due To Adenosine Kinase Deficiency
Frontal bossing, Skeletal muscle atrophy, Hypertelorism, Secundum atrial septal defect, Sensorine... OMIM:614300
Vacterl With Hydrocephalus
Inguinal hernia, Microtia, third degree, Anophthalmia, Femoral hernia, Spina bifida, Micrognathia... ORPHA:3412
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, M... ORPHA:397
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Clinodactyly, Oligodontia, Conductive hearing impairment, Calvaria... OMIM:616331
Coffin-Siris Syndrome 4
Prominent interphalangeal joints, Short philtrum, Atrial septal defect, Pulmonary artery atresia,... OMIM:614609
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblast... ORPHA:116
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Optic nerve hypoplasia,... OMIM:222765
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Anteverted nares, Depressed nasal bridge, High, narrow palate, Bulbous nose, Thick lower lip verm... OMIM:617268
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... OMIM:277170
Prader-Willi Syndrome Due To Translocation
Flat occiput, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... ORPHA:177907
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Microcephaly, Situs inversus totalis, Gastroesophageal reflux, Atrial septal defect OMIM:619881
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Anteverted nares, Optic nerve hypoplasia, Broad hallux, Olivopontocerebellar hyp... ORPHA:457284
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bulbous no... ORPHA:2316
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:610168
Jacobsen Syndrome
Pachygyria, Agenesis of corpus callosum, Broad columella, Long hallux, Long philtrum, Low-set, po... ORPHA:2308
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Microcephaly, Diastema, Hypertelorism, Bulbous nose, Wide mouth, Hypoplasia of the corpus callosu... OMIM:618470
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Widened atrophic scar, High, narrow palate, Wrist drop, Muscle fiber atrop... ORPHA:1900
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Atrial septal defect, Prominent fingertip pads, Arachnodactyly, Underdeveloped nasal alae, Microg... OMIM:300986
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Hypotelorism, Deeply set eye,... OMIM:616975
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,... ORPHA:101028
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Posteriorly rotated... OMIM:617190
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Scleromyxedema
Abnormality of the gastrointestinal tract, Abnormal coronary artery morphology, Transient ischemi... ORPHA:167635
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Inguinal hernia, Proximal placement of thumb, M... ORPHA:3121
Genitopatellar Syndrome
Prominent nose, Micrognathia, Knee flexion contracture, Gastroesophageal reflux, Short palm, Atri... ORPHA:85201
Ohdo Syndrome
Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Cryptorchidism, Wide ... OMIM:249620
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Microcephaly, Hypertelorism, Sc... OMIM:619989
Tyshchenko Syndrome
Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipple, Pectus excavatum, High... OMIM:615102
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... ORPHA:487796
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dental crowding, Micrognathia, Cortical dysplasia, Deeply set eye, Hypoplasia of the brainstem, S... OMIM:618343
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture, Cutaneous finge... OMIM:224690
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Preaxial polydactyly, Brachycephaly, Absent nasal bridge, Narrow greater sciatic no... OMIM:617925
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus to... OMIM:609008
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Jaundice, Cholestasis, Wide mouth, Branchial anomaly,... ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iy
Microcephaly, Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth, Hypoplasia of the co... OMIM:300934
Gabriele-De Vries Syndrome
Micrognathia, Cortical dysplasia, High palate, Finger joint hypermobility, Patent foramen ovale, ... OMIM:617557
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Decreased muscle mass, Dental crowding, Brachycephaly, High palate, Short ... ORPHA:3063
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Hyperparathyroidism, Anteverted nares, Prominent nasal bridge,... ORPHA:2604
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Aganglioni... ORPHA:475
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Diabetes insipidus, Facial hypotonia, Megalencephaly, Hypertelorism, Thick lower lip vermilion, W... OMIM:611087
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Hypergonadotropic hypogonadism... OMIM:300514
Braddock-Carey Syndrome 2
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the exter... OMIM:619981
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Abnormality of the thyroid gland, Esophageal atresia,... ORPHA:1923
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... ORPHA:60015
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Frontal bossing, Inguinal hernia, Abnormal mitral valve morphology, ... ORPHA:1292
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... ORPHA:352665
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Hepatomegaly, Anophthalmia, Foot join... ORPHA:90321
Simosa Craniofacial Syndrome
Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, ... OMIM:182150
Buratti-Harel Syndrome
Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Broad hallux, Hypertelorism, Cryptorc... OMIM:619314
Hunter-Mcalpine Craniosynostosis Syndrome
Downturned corners of mouth, Craniosynostosis, Narrow mouth OMIM:601379
17P11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Abnormal dental morphology, Microcephaly, Open bite, Oral-phar... ORPHA:1713
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal calvaria morpho... ORPHA:1323
Thanatophoric Dysplasia Type 1
Frontal bossing, Brachydactyly, Cloverleaf skull, Depressed nasal bridge, Short femur, Bowing of ... ORPHA:1860
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Cerebellar vermis hypoplasia, Hypertelorism, Patent ductus arteriosus, Sens... OMIM:602482
Van Esch-O'Driscoll Syndrome
Protruding ear, Downturned corners of mouth, Shallow orbits, Clinodactyly of the 5th finger, Atri... OMIM:301030
Adams-Oliver Syndrome
Porencephalic cyst, Leukopenia, Pulmonary artery atresia, Encephalocele, Finger syndactyly, Porta... ORPHA:974
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Depressed nasa... OMIM:156200
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Chromosome 13Q14 Deletion Syndrome
Micrognathia, Anteverted ears, Deep philtrum, Hypotelorism, High palate, Holoprosencephaly, Chori... OMIM:613884
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Abnormal cortical gyration, Spinal muscular atrophy, Patent ductus arter... OMIM:616867
Arterial Tortuosity Syndrome
Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Femoral herni... ORPHA:3342
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Thin ribs,... OMIM:614833
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Microcephaly, Cryptorchi... OMIM:617635
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Orofa... OMIM:309800
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
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Developmental And Epileptic Encephalopathy 87
Prominent nose, Hypertelorism, Bulbous nose, Cerebral atrophy, Hypotelorism, Wide mouth, High pal... OMIM:618916
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Protruding ear, High palate, Biparietal narrowing, Ant... ORPHA:261250
Nicolaides-Baraitser Syndrome
High, narrow palate, Abnormal finger morphology, Hernia, Short palm, Thick nasal alae, Anteverted... ORPHA:3051
Coffin-Siris Syndrome
Clinodactyly, Simplified gyral pattern, Papillary thyroid carcinoma, Aspiration pneumonia, Hernia... ORPHA:1465
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Abnor... ORPHA:264450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... ORPHA:95699
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Diffuse cerebral atrophy, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal st... ORPHA:83617
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Brachycephaly, Orofacial cleft, Abnormal lung lobat... OMIM:607872
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Porencephalic cyst, Anteriorly placed anus, Glossoptosi... OMIM:117650
Specc1L-Related Hypertelorism Syndrome
Brachycephaly, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced er... ORPHA:1519
Noonan Syndrome 3
High palate, Atrial septal defect, Thickened helices, Left unilambdoid synostosis, Patent foramen... OMIM:609942
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
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... ORPHA:2929
Intellectual Developmental Disorder, Autosomal Recessive 72
Thin upper lip vermilion, Narrow nasal base, Posteriorly rotated ears, Wide nasal ridge, Prominen... OMIM:618665
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Microcephaly, Cryptor... ORPHA:1194
Noonan Syndrome 7
Atrial septal defect, Depressed nasal bridge, Hypertelorism, Pectus excavatum, Dysphagia, Macroce... OMIM:613706
Proteus-Like Syndrome
Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Dolicho... ORPHA:2969
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Atrial septal defect, Depre... OMIM:207410
3Mc Syndrome 1
Dental crowding, Atrial septal defect, Clinodactyly of the 5th finger, Conductive hearing impairm... OMIM:257920
Stromme Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Preaxial polydactyly, Deeply set eye, Agenesis of cor... OMIM:243605
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... ORPHA:90291
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Low-set... ORPHA:800
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Accessory oral frenulum, Hypertelorism, Osteolysis involving bones of the upper limbs... ORPHA:88630
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Sagittal craniosynostosis... OMIM:615879
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... OMIM:607323
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Cortical dysplasia, Tracheoesophageal fistula, Cleft palate, D... ORPHA:261272
Chime Syndrome
Depressed nasal ridge, Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental mo... ORPHA:3474
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Microdontia, Pate... OMIM:620005
Alazami Syndrome
Wide nose, Mild microcephaly, Wide mouth, Slender long bone, Deeply set eye, Thick vermilion bord... ORPHA:319671
Intellectual Developmental Disorder, Autosomal Recessive 65
Inguinal hernia, Abnormal pinna morphology, Prominent nasal bridge, Supernumerary nipple, Secundu... OMIM:618109
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Cerebral calcification, Lipodystrophy, Absent septum pellucidum, Iris ... ORPHA:2396
Crisponi Syndrome
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Narrow mouth, Flexion contrac... ORPHA:1545
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Spondyloepimetaphyseal Dysplasia, Krakow Type
Frontal bossing, Atrial septal defect, Decreased serum insulin-like growth factor 1, Allergic rhi... OMIM:618162
Spastic Paraplegia 47, Autosomal Recessive
Microcephaly, Bulbous nose, Flexion contracture, Wide nasal bridge, Wide mouth, High palate, Shor... OMIM:614066
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,... ORPHA:369950
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Hyperte... ORPHA:1825
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Cortical dysplasia, Simplified gyral pattern, Distal lower limb amyotrophy... OMIM:300354
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Prominent nose, Long nose, Micrognathia, Atrial septal defect, Clinodactyly o... ORPHA:3047
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... OMIM:300400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Microcephaly, Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Buphthalmos, Joint co... OMIM:618005
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide nose, Microcephaly, Short distal phalanx of the 5th finger, Wide mouth, Congenital pulmonary... OMIM:113477
Mucopolysaccharidosis-Plus Syndrome
Cerebral calcification, Metaphyseal widening, Flexion contracture, Leukopenia, Macrovesicular hep... OMIM:617303
Bardet-Biedl Syndrome 8
Situs inversus totalis, Hypogonadism, Brachycephaly, Postaxial polydactyly OMIM:615985
Hutchinson-Gilford Progeria Syndrome
Short lingual frenulum, Dental crowding, Micrognathia, Intracranial hemorrhage, High palate, Shal... ORPHA:740
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jeju... ORPHA:436252
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Noonan Syndrome 5
Mandibular prognathia, Atrial septal defect, Depressed nasal bridge, Hypertelorism, Cryptorchidis... OMIM:611553
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Facial palsy, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch OMIM:107550
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Anteverted nares, Micrognathia, Dysplastic corpus callosum, Wide nasal bridge, Hydr... OMIM:618810
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Severe Intellectual Disability And Progressive Spastic Paraplegia
Everted upper lip vermilion, Facial hypotonia, Microcephaly, Bulbous nose, Wide mouth, High palat... ORPHA:280763
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... OMIM:213980
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Frontal bossing, Abnormal pinna morphology, Abnormal cortical gyration, Pectus... OMIM:177980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Prominent nasal bridge, Microcephaly, Long nose, Oral-pharynge... OMIM:619184
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Recurrent respiratory infections, Broad nasal tip, Bifid nasal tip, Microcephaly, Secundum atrial... OMIM:619758
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Micrognathia, Goiter, Pectus excavatum, Hypoplasia of the m... OMIM:615108
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Cerebellar vermis hypoplasia, Ventricular septal defect, Hypertelorism, Hypopl... OMIM:619909
Pallister-Hall Syndrome
Adrenal hypoplasia, Depressed nasal ridge, Abnormal lung lobation, Gonadotropin deficiency, Holop... ORPHA:672
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Underdeveloped nasal alae, Microcephaly, Narrow mouth, Micrognathia, P... OMIM:613800
Restrictive Dermopathy 1
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal de... OMIM:275210
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Gastroesophageal reflux,... ORPHA:79345
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Wide nasal bridge, Protruding ear, Panni... ORPHA:2526
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Gastroesophage... OMIM:115150
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Narrow mouth, Camptodactyly, Overlapping fingers, Adducted thumb OMIM:618436
Diamond-Blackfan Anemia 1
Micrognathia, Depressed nasal ridge, Reticulocytopenia, High palate, Triphalangeal thumb, Neutrop... OMIM:105650
Meckel Syndrome, Type 7
Inguinal hernia, Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus art... OMIM:267010
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, Gingivitis, Protrudi... ORPHA:286
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Intestinal malrotation, Microcephaly, Cryptorchidism, Gas... OMIM:617798
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corp... OMIM:615948
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Nasal congestion, Recur... OMIM:300991
Degcags Syndrome
Prominent nose, Oral-pharyngeal dysphagia, Micrognathia, Hypotelorism, Leukopenia, Iron deficienc... OMIM:619488
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... OMIM:609192
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Cortical dysplasia, Atrial septal defect, Pachygyria, Encephalocele, Cleft... OMIM:100300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Frontal bossing, Short metacarpal, Inguinal hernia, Ventricular septal defect, Cra... ORPHA:166035
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Dental crowding, L... OMIM:615381
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Iris coloboma, Cryptorchidism, Submucous cleft hard palate, Single... ORPHA:2250
Smith-Kingsmore Syndrome
Reduced cerebral white matter volume, Long philtrum, Depressed nasal bridge, Hypertelorism, Crypt... OMIM:616638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormality of the... OMIM:615802
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Hypothyroidism, Hy... OMIM:158350
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Frontal bossing, Dental crowding, Anteverted nares, Prominent nasal br... OMIM:618825
Congenital Diaphragmatic Hernia
Intestinal malrotation, Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital dia... ORPHA:2140
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clinodactyly of the 5th fin... ORPHA:2554
Noonan Syndrome 8
Relative macrocephaly, Ventricular septal defect, Hypertelorism, Cryptorchidism, Patent ductus ar... OMIM:615355
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Hypertelorism, Splenomegaly, Sensorineural ... OMIM:615636
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Anteverted nares, Prominent nasal bridge, Uplifted earlobe, Tapered finger, Protruding ear, Wide ... OMIM:615722
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High p... ORPHA:124
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma... ORPHA:3455
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Skin Creases, Congenital Symmetric Circumferential, 2
Uplifted earlobe, Micrognathia, Short palm, Clinodactyly of the 5th finger, Microdontia, Depresse... OMIM:616734
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Coloboma, Short palm, Clinodactyly of... ORPHA:508498
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Brachycephaly, Partial duplication of the distal phalanx of... OMIM:101400
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Atrial sep... OMIM:614526
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Slender nose, Dental crowding, Arachnodactyly, T... ORPHA:397695
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Conductive hearing impairment, Short... OMIM:132450
Timothy Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Ventricular septal defect, Bronchitis, Cardiome... OMIM:601005
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Megale... ORPHA:500533
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... OMIM:614954
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Micrognathia, Goiter, Pectus excavatum, Hypoplasia of the m... OMIM:615109
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Chops Syndrome
Brachydactyly, Anteverted nares, Ventricular septal defect, Microcephaly, Hypertelorism, High, na... OMIM:616368
Congenital Tracheal Stenosis
Meckel diverticulum, Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypo... ORPHA:141127
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Inguinal hernia, Dental crowding, Abnormal heart valve morphology, Sandal gap, Rec... ORPHA:230851
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Subcutaneous lipoma, Cryptorchid... OMIM:613001
Bartsocas-Papas Syndrome
Finger syndactyly, Median cleft lip, Toe syndactyly, Underdeveloped nasal alae, Microcephaly, Apl... ORPHA:1234
Noonan Syndrome 4
Atrial septal defect, Pectus excavatum of inferior sternum, Posteriorly rotated ears, Depressed n... OMIM:610733
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Atrial se... ORPHA:261323
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality ... ORPHA:163966
2Q23.1 Microduplication Syndrome
Thin upper lip vermilion, Dental crowding, Broad hallux, Sandal gap, Abnormality of the dentition... ORPHA:313947
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Frontal bossing, Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdevelop... OMIM:608624
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Mitral valve prolapse, Ascending aort... OMIM:616166
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Gastroesophageal reflux, At... OMIM:600373
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Cutaneous syndactyl... OMIM:617666
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, n... ORPHA:466791
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic ... ORPHA:563609
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Deeply set eye, Everted lower lip ve... ORPHA:2429
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, Hypotelorism, Deeply set eye, High palate, Hippocampal atrophy, Gas... OMIM:619325
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Holoprosencephaly 11
Holoprosencephaly OMIM:614226
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Frontal bossing, Posteriorly rotated ears, Decreased response to growth hormone stimulation test,... OMIM:617260
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Micrognathia, High, narrow palate, Congenital contractu... OMIM:208150
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly OMIM:615433
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Coxa valga, Splenomegaly, Patent ductus arteriosus, Gingival ove... OMIM:230600
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Micrognathia, Flexion contracture, Bifid uvula, Dislocated radial head, Long toe, Arachnodactyly,... OMIM:130070
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Micrognathia, Hypotelorism, Leukopenia, T lymphocyt... OMIM:242840
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ... OMIM:615382
Intellectual Developmental Disorder, Autosomal Dominant 29
Dental crowding, Brachycephaly, Deeply set eye, Cutaneous finger syndactyly, High palate, Broad h... OMIM:616078
Noonan Syndrome 10
Relative macrocephaly, Ventricular septal defect, Hypertelorism, Pectus excavatum, Cryptorchidism... OMIM:616564
Congenital Myopathy 11
Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale OMIM:619967
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation, Brachyceph... ORPHA:369837
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Short philtrum, Gastroesophag... ORPHA:79324
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep... OMIM:617137
Ivic Syndrome
Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, Hypoplasia of the ulna, L... OMIM:147750
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,... OMIM:613803
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Hypertelorism, Complete atrioventricular canal defect, Postaxi... OMIM:217085
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Facial hypotonia, Optic nerve hypoplasia, ... OMIM:618381
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... ORPHA:3320
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Abnormal heart valve morphology, Short... ORPHA:1517
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Microcephaly, Absent thumb, Cryptorchidism, Fibular hypoplas... OMIM:612447
Coach Syndrome 1
Encephalocele, Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted na... OMIM:216360
Classical-Like Ehlers-Danlos Syndrome Type 2
Widened atrophic scar, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Shoulder disloc... ORPHA:536532
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ... OMIM:618914
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Anteverted nares, Depressed nasal bridge, Aplasia/Hypoplasia affecting the eye, ... ORPHA:2719
Larsen Syndrome
Short metatarsal, Shallow orbits, Atrial septal defect, Conductive hearing impairment, Spina bifi... OMIM:150250
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pat... ORPHA:85276
Oculodentodigital Dysplasia
Selective tooth agenesis, Basal ganglia calcification, Clinodactyly, High palate, Joint contractu... OMIM:164200
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Microcephaly, Atrial septal defect, Keloids, Periventricular leukomalacia ORPHA:357225
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Deeply set eye, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Hypertelo... OMIM:252940
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Dental crowding, Proximal placement of thumb, Micrognathia, Partial age... OMIM:270400
Osteopetrosis With Renal Tubular Acidosis
Cerebral calcification, Micrognathia, Prominent floating ribs, Basal ganglia calcification, Brach... ORPHA:2785
Lissencephaly 6 With Microcephaly
Thin upper lip vermilion, Anteverted nares, Microcephaly, Pachygyria, Tapered finger, Bulbous nos... OMIM:616212
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Partial agenesis of the corpus callos... OMIM:210710
Autosomal Spastic Paraplegia Type 18
Hip contracture, Abnormal pinna morphology, Ankle flexion contracture, Neck joint contracture, Fl... ORPHA:209951
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Protruding ear, Atrial septal defect, Joint co... OMIM:617403
Arachnoid Cyst
Encephalocele, Facial palsy, Hydrocephalus, Holoprosencephaly, Lower limb muscle weakness ORPHA:2356
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Esophageal atr... ORPHA:95706
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Finger syndactyly, Congenital hip dislocation, Ventricular sept... ORPHA:217346
Meier-Gorlin Syndrome 4
Microcephaly, Micrognathia, Cryptorchidism, Hypoplasia of the maxilla, Thick lower lip vermilion,... OMIM:613804
Mucolipidosis Ii Alpha/Beta
Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Hepatome... OMIM:252500
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Prelingu... ORPHA:436174
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Microcephaly, ... OMIM:614207
Meester-Loeys Syndrome
High palate, Joint contracture, Bifid uvula, Arachnodactyly, Hypertelorism, Gingival overgrowth, ... OMIM:300989
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Waardenburg Syndrome Type 3
Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Microcephaly, Atelectas... ORPHA:896
Gand Syndrome
Long toe, Thin upper lip vermilion, Broad nasal tip, Hypertelorism, Long fingers, Wide nasal brid... OMIM:615074
Ritscher-Schinzel Syndrome 4
Brachycephaly, Hypotelorism, Deeply set eye, High palate, Short philtrum, Agenesis of corpus call... OMIM:619435
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Aplasia of the left hemidiaphragm, Agenesis of corpus callosum, Adrenal insuffic... OMIM:618238
Peters Plus Syndrome
Micrognathia, Bicuspid pulmonary valve, Brachycephaly, Abnormal pulmonary vein morphology, Widely... ORPHA:709
Zimmermann-Laband Syndrome
Hallux valgus, Hepatomegaly, Wide nose, Micrognathia, Hypertelorism, Splenomegaly, Supernumerary ... ORPHA:3473
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Protruding ear, ... OMIM:303600
Diamond-Blackfan Anemia 7
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundu... OMIM:612562
Lessel-Kubisch Syndrome
Narrow nasal bridge, Hypogonadism, Narrow mouth OMIM:618681
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Prominent nasal bridge, Microcephaly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Orofacial... ORPHA:502434
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Anteverted nares, Decreased muscle mass, Micrognathia... OMIM:615065
Fanconi Anemia, Complementation Group F
Atrial septal defect, Pneumonia, Decreased response to growth hormone stimulation test, Microceph... OMIM:603467
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Uplifted earlobe, Micrognathia, High palate, Triphalangeal thumb, Tap... OMIM:618580
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Depressed nasal bridge, Micrognathia, Hypertelorism, Brachycepha... ORPHA:2062
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Frontal bossing, Posteriorly rotated ears, Microcephaly, Sensorineur... OMIM:615219
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... OMIM:129400
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Microcephaly, Focal pol... OMIM:619103
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Abnormality of the dentition, Metatarsus adductus, Narrow... ORPHA:3101
Liang-Wang Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Gingival overgrowth, Wide nasal bridge, Cerebr... OMIM:618729
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Bro... OMIM:618050
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusi... OMIM:615451
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Hyperteloris... OMIM:619179
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Macrocephaly, Low-set ears, Narrow m... OMIM:613735
Von Willebrand Disease
Venous insufficiency, Deviation of finger, Abnormal mitral valve morphology ORPHA:903
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Dental crowding, Posteriorly rotated ears, Facial hypotonia, Protruding tongue, ... OMIM:618106
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Camptodactyly of finger, Underdeveloped n... ORPHA:306542
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Periventricular cysts, Orofacial cleft, Downturned corners o... OMIM:194190
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Vasculitis, Le... ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar ve... OMIM:615287
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, 3-5 toe syndactyly, Clinodactyly of the 5th finger, Atrial septal defect, ... OMIM:300707
X-Linked Intellectual Disability, Pai Type
Recurrent respiratory infections, Inguinal hernia, Prominent nasal bridge, Tapered finger, Crypto... ORPHA:85322
Distal Deletion 12Q
Micrognathia, High, narrow palate, Biliary atresia, Brachycephaly, Aplasia/Hypoplasia of the midd... ORPHA:96149
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Frontal bossing, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Hydrocephalus, Wide m... ORPHA:60040
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Sensorineural hearing impairm... ORPHA:49827
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... ORPHA:89842
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Esophageal Atresia
Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Coloboma, Gastroe... ORPHA:1199
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm... OMIM:309545
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... OMIM:227270
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... ORPHA:1896
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Clinodactyly, Short palm, Duplication ... OMIM:268310
Spastic Paraplegia 52, Autosomal Recessive
Facial hypotonia, Prominent nose, Microcephaly, Hypertelorism, Bulbous nose, Flexion contracture,... OMIM:614067
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft upper lip, Hypertelorism, Cryptorchidism, Absent pulmonary arter... OMIM:600460
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Relative macrocephaly, Mandibular prognathia, Duodenal polyposis, Optic disc hypoplasia, Abnormal... ORPHA:261584
Roberts-Sc Phocomelia Syndrome
Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Coloboma, High palate, Sh... OMIM:268300
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Steinfeld Syndrome
Holoprosencephaly, Abnormal heart morphology OMIM:184705
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, ... OMIM:617092
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Microcephaly, Hepatic melanin-like lysosomal pig... OMIM:208085
Hernández-Aguirre Negrete Syndrome
Low-set, posteriorly rotated ears, Bulbous nose, Deep philtrum, Wide mouth, Delayed puberty ORPHA:2139
49,Xxxxy Syndrome
Delayed eruption of teeth, Short stature, Holoprosencephaly, Short neck ORPHA:96264
Immunodeficiency 9
Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper... OMIM:612782
Kabuki Syndrome 1
Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear, High palate, Atria... OMIM:147920
Coffin-Siris Syndrome 11
Frontal bossing, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Hypertelorism, Esop... OMIM:618779
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... ORPHA:3219
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Microcephaly, Cryptorchidism, Patent ductus arte... ORPHA:2519
Cardiofaciocutaneous Syndrome
High palate, Biparietal narrowing, Atrial septal defect, Thickened helices, Long philtrum, Low-se... ORPHA:1340
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Optic nerve hypoplas... ORPHA:363686
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Grayish en... OMIM:253000
Distal Deletion 6P
Wide nose, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Underdeveloped... ORPHA:96125
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ... OMIM:268305
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho... ORPHA:798
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Protruding ear, Tibial bowing, Deeply set eye, Spina bifida occulta, Long ... ORPHA:500095
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Microcephaly, Precocious puberty, Hypertelorism... OMIM:619877
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Dental crowding, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus ex... OMIM:617168
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Transient neutropenia, Ventricular septal defect, Bowing of the legs, Hypertelor... OMIM:617107
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Hypertelorism, Crypto... ORPHA:1912
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Rhinitis, Recurrent sin... OMIM:615504
Okamoto Syndrome
Tented upper lip vermilion, Abnormally large globe, Primum atrial septal defect, Downturned corne... ORPHA:2729
Mucopolysaccharidosis Type 4
Bowing of the long bones, Anteverted nares, Abnormal dental enamel morphology, Abnormal heart val... ORPHA:582
Congenital Disorder Of Glycosylation, Type Ig
Thin upper lip vermilion, Wide nose, Short femur, Abnormal pinna morphology, Sandal gap, Short hu... OMIM:607143
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypointensity of cerebral white matter on MRI, Depressed nasal bridge, Broad hallux, Hyperteloris... OMIM:300860
Developmental And Epileptic Encephalopathy 6B
Hypertelorism, Narrow mouth OMIM:619317
Monosomy 22
Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Aplasia of the thymus, Microceph... ORPHA:96123
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Frontal bossing, Inguinal hernia, Overlapping toe, Supernumerary nipple, Microcephaly, Tapered fi... OMIM:618653
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent nose, Long nose, Micrognathia, Subcortical cerebral atrophy, Pachygyria, Iris coloboma,... ORPHA:2995
Nicolaides-Baraitser Syndrome
Short lingual frenulum, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, ... OMIM:601358
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Absent septum pellucidum... OMIM:609053
Alagille Syndrome 1
Long nose, Deeply set eye, Papillary thyroid carcinoma, Atrial septal defect, Hypoplasia of the u... OMIM:118450
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... ORPHA:217093
Mirage Syndrome
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Thrombocytopenia, Patent ... OMIM:617053
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb, Chorioretinal ... OMIM:107480
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft... OMIM:154500
Yunis-Varon Syndrome
Flat occiput, Cerebellar vermis hypoplasia, Congenital hip dislocation, Micrognathia, Short metat... OMIM:216340
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis, Chronic... OMIM:612444
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Cerebellar vermis hypoplasia, Cleft upper lip, Hype... ORPHA:1394
Spastic Paraplegia 50, Autosomal Recessive
Mandibular prognathia, Wide nasal ridge, Microcephaly, Bulbous nose, Wide mouth, Limb hypertonia,... OMIM:612936
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Hypertelorism, Abnormality of the ... ORPHA:2563
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Wide nose, Anteverted nares, Craniosynostosis, Hypertelorism, Wide m... OMIM:619056
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Microcephaly, Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, ... OMIM:618891
Orofaciodigital Syndrome Type 3
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... ORPHA:2752
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... ORPHA:444077
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Mogs-Cdg
Absent brainstem auditory responses, Wide nose, Hepatomegaly, Inappropriate antidiuretic hormone ... ORPHA:79330
Diamond-Blackfan Anemia 16
Atrial septal defect, Anemia, Pulmonic stenosis OMIM:617408
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cerebellar vermis hypoplasia, Congenital hip dislocation, Prominent nose, Brachycephaly, Abnormal... ORPHA:480880
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, ... ORPHA:2728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Khan-Khan-Katsanis Syndrome
Frontal bossing, Tented upper lip vermilion, Patent ductus arteriosus after premature birth, Cere... OMIM:618460
Lymphatic Malformation 6
Abnormal pinna morphology, Micrognathia, Pectus excavatum, Splenomegaly, Cupped ear, Hydrocele te... OMIM:616843
Peters-Plus Syndrome
Short lingual frenulum, Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Hypoplas... OMIM:261540
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular septal defec... OMIM:620135
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... OMIM:610125
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Wide nose, Eosinophilia, Abnormality of the dentition, Microgna... OMIM:618282
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... ORPHA:217085
Galloway-Mowat Syndrome 1
Flat occiput, Prominent nose, Micrognathia, Hypoplasia of the iris, Hypoplasia of the brainstem, ... OMIM:251300
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Rhinitis, Recurrent sin... OMIM:615505
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio... OMIM:615873
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Microg... ORPHA:235
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Rhinitis, Recurrent sinusitis, Chronic bronchitis, Abdominal situs ambiguus OMIM:614874
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Midline central nervous system li... ORPHA:1827
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebral calcification, Cerebellar vermis hypoplasia, Ventricular septal ... OMIM:620024
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Finger syndactyly, Turricephaly, Camptodactyly of fing... ORPHA:2907
Manitoba Oculotrichoanal Syndrome
Omphalocele, Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Hypertelorism, Anteri... OMIM:248450
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Microcephaly, Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect,... OMIM:619239
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia... ORPHA:989
Nephronophthisis 14
Situs inversus totalis, Cerebellar vermis hypoplasia OMIM:614844
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Depressed nasal... OMIM:618590
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Flexion contracture, Short palm, Hypoplastic iliac wing, Short p... OMIM:611717
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Simplified gyr... ORPHA:500150
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Pos... OMIM:615981
Noonan Syndrome 14
Scapular winging, Posteriorly rotated ears, Prominent nasal bridge, Hypertelorism, Pectus excavat... OMIM:619745
Alagille Syndrome 2
Long nose, Cholestasis, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetra... OMIM:610205
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Conotruncal defect, Cleft palate, Anotia, Microtia OMIM:243440
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Micrognathia, 2-3 toe cutaneous syndactyly, Protruding ear, Downturned corners of mout... OMIM:614756
Duplication Of The Pituitary Gland
Encephalocele, Microcephaly, Hypertelorism, Supernumerary tooth, Abnormal pituitary gland morphol... ORPHA:314621
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Inguinal hernia, Cleft soft palate, Uplifted earlobe, Secundum atrial s... OMIM:620183
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Primrose Syndrome
Skeletal muscle atrophy, Cerebral calcification, Bilateral cryptorchidism, Hypoplasia of the maxi... OMIM:259050
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Frontal bossing, Lactose intolerance, Depressed nasal bridge, Diastasis recti, Megalencephaly, Hy... ORPHA:457485
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Marfan Syndrome
Skeletal muscle atrophy, Dental crowding, Micrognathia, High, narrow palate, Increased axial leng... ORPHA:558
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Micrognathia, Long nose, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5th fin... OMIM:620224
Menkes Disease
Micrognathia, Venous insufficiency, Intracranial hemorrhage, Hernia, Abnormal carotid artery morp... ORPHA:565
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Flexion contract... OMIM:226600
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Aganglionic megacolon, Tarsal synostosis, Cryptorch... ORPHA:2473
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi... OMIM:269150
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholangitis, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Hepatic fibrosis, ... OMIM:266920
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, M... ORPHA:2107
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Brachycephaly, Hepatic fibrosis, Atrial septal defect, Pachygyria, ... OMIM:263520
Intellectual Developmental Disorder, Autosomal Dominant 68
Frontal bossing, Posteriorly rotated ears, Broad hallux, Microcephaly, Patent ductus arteriosus, ... OMIM:619934
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Secundum atr... OMIM:608688
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve, Leukoe... OMIM:617744
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Pectu... ORPHA:163654
Holoprosencephaly-Craniosynostosis Syndrome
Short stature, Holoprosencephaly ORPHA:2163
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Microcephaly, Hypothyroidism, Lens c... ORPHA:42775
X-Linked Intellectual Disability, Cabezas Type
Prominent nose, High palate, Short philtrum, Biparietal narrowing, Short palm, Clinodactyly of th... ORPHA:85293
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Joubert Syndrome 3
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Low-se... OMIM:608629
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Chronic sinusitis, Bronchiectasis, Chronic rhinitis OMIM:614017
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ... ORPHA:580
Galloway-Mowat Syndrome 6
Anteverted nares, Decreased response to growth hormone stimulation test, Microcephaly, Downturned... OMIM:618347
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Hypertelorism, Thick lower lip ver... OMIM:157980
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral calcification, Cerebral hemorrhage, Microcephaly, Secundum atrial septal d... OMIM:617397
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ... ORPHA:904
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Limb hypertonia, Cerebellar hyp... OMIM:620327
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Pitt-Hopkins Syndrome
Short fourth metatarsal, Deep philtrum, Deeply set eye, Short philtrum, Widely spaced teeth, Gast... OMIM:610954
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Var... OMIM:619656
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Abnormal pinna morphology, Limb joint contracture, Ankle flexion contracture, Elbow flexion contr... ORPHA:280384
Holt-Oram Syndrome
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... OMIM:142900
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Transient ischemic attack, Depressed nasal bridge, Supernumerar... OMIM:600268
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Oculocerebrofacial Syndrome, Kaufman Type
Flat occiput, Arachnodactyly, Microcephaly, Micrognathia, High, narrow palate, Brachycephaly, Wid... ORPHA:2707
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Cerebral calcification, Microcephaly, Congenital sensorineural hearing impairment, Sensorineural ... OMIM:619147
Osteogenesis Imperfecta
Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contracture, Brachy... ORPHA:666
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Pitt-Hopkins Syndrome
Short metatarsal, Finger clinodactyly, Deeply set eye, Short philtrum, Gastroesophageal reflux, T... ORPHA:2896
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal lung lobation, Abnormal finger morphology... ORPHA:744
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Postaxial polyda... OMIM:617088
Lambert Syndrome
Inguinal hernia, Jaundice, Wide mouth, Intrahepatic biliary atresia, Malar flattening OMIM:245550
Aneurysm-Osteoarthritis Syndrome
High palate, Bifid uvula, Abdominal aortic aneurysm, Arachnodactyly, Arterial tortuosity, Hyperte... ORPHA:284984
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology ORPHA:3222
Pettigrew Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Cerebral calcification, Prominent nose, Micr... OMIM:304340
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... ORPHA:33276
Townes-Brocks Syndrome
Anteriorly placed anus, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal defect, Clinod... ORPHA:857
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Situs inversus totalis, Re... OMIM:608647
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Prominent nasal bridge, Anisocytosis, Microcephaly, Rocker bottom foot, Dysplastic ... OMIM:604273
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Abnormality... ORPHA:90154
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Anteriorly placed anus, Microphthalmia ORPHA:2717
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pectus excavatum, Wide mouth, Pulmonic stenosis, Atrial septal defect,... OMIM:615279
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Aganglionic megacolon, Prominent nasal bridge, Narrow mouth ORPHA:261222
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Bronchiectasis, Noncommunicating hydrocephalus, Abd... OMIM:618699
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Exaggerated cupid's bow, Bicuspid aortic valve, Tapered finger, Micrognathia, Bulbous ... OMIM:614501
Costello Syndrome
Hyperextensibility of the finger joints, Micrognathia, High palate, Atrial septal defect, Lymphan... OMIM:218040
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Microcephaly, Sensorineural hearing impairment, Dysphagia, Joint... OMIM:615919
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Microcephaly, Tapered finger, Clin... OMIM:619576
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, ... OMIM:616028
Developmental And Epileptic Encephalopathy 90
Atrial septal defect, Hypothyroidism, Cerebral atrophy, Limb hypertonia OMIM:301058
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Malar flattening, Abnormality of the dentition, Microcephaly, Cryptorchidism, Senso... ORPHA:85321
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Precocious puberty, 2-3 toe syndactyly, Coloboma, Macrocephaly, Microphthalmia, 3-4... OMIM:615877
Omodysplasia 1
Frontal bossing, Short humerus, Depressed nasal bridge, Ventricular septal defect, Increased fibu... OMIM:258315
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Syndactyly, Anteverted... OMIM:227330
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Turricephaly, Arachnodactyly, Micrognathia, Scaphocephaly, Type 1 muscle fibe... OMIM:619036
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Hypotelorism, Early onset of sexual ... OMIM:194050
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, A... OMIM:619194
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Recurr... OMIM:620197
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Recurrent pneumonia, B... OMIM:613808
Marfan Syndrome
Decreased muscle mass, Dental crowding, Bicuspid aortic valve, Equinus calcaneus, Incisional hern... OMIM:154700
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal nasal ... ORPHA:245
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Rhinit... OMIM:614935
Endocrine-Cerebroosteodysplasia
Natal tooth, Hydrocephalus, Holoprosencephaly, Polyhydramnios OMIM:612651
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater sciatic notch, A... OMIM:250220
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defe... ORPHA:769
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Clef... OMIM:301091
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding tongue, Brachycephaly, Gingiva... OMIM:618797
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Anteverted nares, Hypertelorism, Preaxial hand polydactyly... OMIM:263630
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Recurrent respiratory infections, Cerebral calcification, Thrombocytopenia, ... ORPHA:505248
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Bulbous nose, Cryptorchidism, Wide mouth, Downturned corners of mouth, Umbil... OMIM:273390
Kinsship Syndrome
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, Widely spaced t... OMIM:619297
H Syndrome
Microcytic anemia, Hernia, Cleft upper lip, Recurrent pharyngitis, Gingival overgrowth, Bronchiec... ORPHA:168569
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Long nose, Microcephaly, Sensorineural hearing... ORPHA:457351
Colonic Atresia
Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve... ORPHA:1198
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Brachycephaly, Hepatic fibrosis, Bacterial endocarditis, Hepatosplenom... ORPHA:2072
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Sinusitis, Microcephaly, Bronchiectasis, Acute lymphoblas... OMIM:208900
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... ORPHA:488618
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle... ORPHA:85199
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Hypochromic microcytic anemia... ORPHA:54028
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Atrial septal defect, Pachygyria OMIM:620094
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Wide mouth, Hypertelorism, Abnormality of mouth shape, Underdeveloped tragus ORPHA:83619
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Anteverted nares, Depressed nasal bridge... ORPHA:50945
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Hypoplastic ilia, Flared met... ORPHA:2347
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairmen... OMIM:618748
Ulbright-Hodes Syndrome
Maternal diabetes, Micrognathia, High palate, Phocomelia, Short metacarpal, Depressed nasal bridg... ORPHA:3404
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Micrognathia, High, narrow palate, Gastrointestinal inflammation, Inflamma... ORPHA:881
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Occipital Horn Syndrome
Cerebral calcification, Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gast... ORPHA:198
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Prominent nasal bridge, Abnormality of... OMIM:618505
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Micrognathia, High, narrow palate, High palate, Atrial septal d... OMIM:163950
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Syndactyly, Anteverted nares, Microcephaly, Thick lower lip vermilion, ... ORPHA:1942
Mirror Movements 3
Situs inversus totalis OMIM:616059
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Craniolenticulosutural Dysplasia
High palate, Gastroesophageal reflux, Bifid uvula, Long philtrum, Anteverted nares, Hypertelorism... OMIM:607812
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Malabsorption, 2-3 toe syndactyly, Cirrhosis, Narrow mouth, Hypertrophic... OMIM:616539
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Hypoplastic nasal septum, Cutaneous finger syn... OMIM:186500
Angelman Syndrome
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... OMIM:105830
Johanson-Blizzard Syndrome
Calvarial skull defect, Downturned corners of mouth, Anteriorly placed anus, Hepatic fibrosis, At... OMIM:243800
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Bilateral cryptorchidism, Wide mouth, Short palm, Polymicrogyria OMIM:300982
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, A... OMIM:617660
Adenylosuccinase Deficiency
Thin upper lip vermilion, Skeletal muscle atrophy, Anteverted nares, Microcephaly, Brachycephaly,... OMIM:103050
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Intrahe... OMIM:614866
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Cryptorchidism, Dilated cardiomyo... OMIM:610198
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,... ORPHA:391487
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate,... OMIM:153400
Geleophysic Dysplasia 1
Short palm, Thickened helices, Short metacarpals with rounded proximal ends, Wrist flexion contra... OMIM:231050
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Posteriorly rotated ears, Anteverted nares, Micrognathia, Hypertelorism, Wide nasal bridge, Wide ... OMIM:602562
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Microcep... OMIM:620066
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, V... ORPHA:209905
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... OMIM:619326
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Inguinal hernia, Microcephaly, Brachycephaly, Wide mouth, Hydrocele testis... ORPHA:85290
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Pancreatic Agenesis-Holoprosencephaly Syndrome
Intrauterine growth retardation, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Finger syndactyly, Posteriorly rotated ears, Anteverted nares, Prominent nasal b... ORPHA:1974
Constricting Bands, Congenital
Omphalocele, Syndactyly, Encephalocele, Cleft upper lip, Abnormal lung lobation, Cleft palate, Ha... OMIM:217100
Ring Chromosome 12 Syndrome
Syndactyly, Microcephaly, Secundum atrial septal defect, High, narrow palate, Cryptorchidism, Abn... ORPHA:1439
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Conductive hearing impairment, Velophar... ORPHA:199302
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Microcephaly OMIM:615160
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Ovarian neoplasm, Arteriovenous malformation, Macrocephaly, Lymphangioma, N... ORPHA:137608
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Mixed hearing impairment, Short metacarpal, Cleft upper lip, Pectus excava... OMIM:201180
Short Stature And Microcephaly With Genital Anomalies
Microcephaly, Prominent nose, Delayed puberty, Genu valgum, Gastroesophageal reflux, Delayed thel... OMIM:618702
Genitopatellar Syndrome
Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Anteriorly pl... OMIM:606170
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Hypoplast... OMIM:263650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... OMIM:619950
Multifocal Atrial Tachycardia
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... ORPHA:3282
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Bent Bone Dysplasia Syndrome 2
Relative macrocephaly, Hepatomegaly, Depressed nasal bridge, Bowed humerus, Ulnar bowing, Hypopla... OMIM:620076
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Flat occiput, Protruding tongue, Cessation of head growth, Mild microcepha... ORPHA:411511
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Emphysema, Prematur... OMIM:130050
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Protein-losing en... OMIM:619991
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Micrognathia, H... ORPHA:506358
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Agenesis of cerebellar vermis, Abnormal pinna morphology, Op... OMIM:609069
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Downturned corners of mouth, High palate, Atrial septal defect, Clinodactyly of the 5t... OMIM:619522
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
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Orofaciodigital Syndrome Iii
Hypertelorism, Pectus excavatum, Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, T... OMIM:258850
Neuroocular Syndrome
Hyperextensibility of the finger joints, Lens coloboma, Downturned corners of mouth, Deeply set e... OMIM:619539
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Hypertelorism, Car... ORPHA:50814
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy, Depressed nasal bridge, Hypertelorism, Downturned corners of mouth, Wide... OMIM:619759
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... OMIM:610978
Dysosteosclerosis
Micrognathia, Absent frontal sinuses, Oligodontia, High palate, Broad ribs, Premature loss of tee... OMIM:224300
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ... ORPHA:75508
Trichothiodystrophy 5, Nonphotosensitive
Mandibular prognathia, Optic nerve hypoplasia, Microcephaly, Wide mouth, Progressive microcephaly... OMIM:300953
Oral Submucous Fibrosis
Trismus, Narrow mouth, Flexion contracture, Cheilitis, Abnormal oral cavity morphology ORPHA:357154
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Wide nose, Anteverted nares, Abnormal cortical gyration, Narrow mouth, Bulbous nose, T... ORPHA:314647
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal bridge, Cerebral atrophy, Wide mouth, Wide nasal base, Thin corpus call... OMIM:616521
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... OMIM:619426
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hallux valgus, Thumb contracture, Tapered finger, Duplication ... ORPHA:324540
Fryns-Smeets-Thiry Syndrome
Narrow nasal bridge, Arachnodactyly, Prominent nasal bridge, Microcephaly, Micrognathia, Thick lo... ORPHA:2058
Microtia
Holoprosencephaly ORPHA:83463
Microtia-Anotia
Holoprosencephaly OMIM:600674
Tenorio Syndrome
Mandibular prognathia, Wide nose, Hypoinsulinemia, Anteverted nares, Hydrocephalus, Recurrent pne... OMIM:616260
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, Microvesicular hepatic steatos... OMIM:220111
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Abnormal tibia morphology, Hypotelorism, Protruding ear, High palate, At... ORPHA:363700
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Supernumerary nipple, Hypertelorism, Brachycephaly, Wide mouth, Overfolded helix OMIM:616083
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Clinodactyly, Widely-spaced maxillary central incisors,... OMIM:309580
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:620211
Intellectual Developmental Disorder, Autosomal Dominant 61
Thin upper lip vermilion, Prominent nasal bridge, Hypertelorism, Wide nasal bridge, Wide mouth, S... OMIM:618009
Monosomy 13Q14
Short stature, Short neck, Holoprosencephaly, Webbed neck, Intrauterine growth retardation ORPHA:1587
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal defect, Pneumonia, Pericardial ... ORPHA:26793
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Posteriorly rotated ears, Depressed nasal bridge, Bicuspid aortic valve, Microcephaly, ... OMIM:613355
Spastic Paraplegia 51, Autosomal Recessive
Decreased muscle mass, Facial hypotonia, Microcephaly, Long nose, Bulbous nose, Flexion contractu... OMIM:613744
Kilquist Syndrome
Mandibular prognathia, Choanal atresia, Intestinal malrotation, Coxa valga, Midgut malrotation, X... OMIM:619080
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Foot joint contracture, Oral mucosal... ORPHA:79408
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Flat occiput, Protruding tongue, Cessation of head growth, Mild microcepha... ORPHA:98794
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Spinal dysraphism, Lipoma, Venous m... OMIM:612918
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, M... OMIM:182250
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity, Pectus excavatum,... ORPHA:60030
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Short lingual frenulum, Unilateral hypoplasia of pectoralis major muscle, ... ORPHA:1521
Neurofibromatosis-Noonan Syndrome
Pectus excavatum of inferior sternum, Posteriorly rotated ears, Depressed nasal bridge, Hypertelo... OMIM:601321
Lymphatic Malformation 7
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Anemia... OMIM:617300
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Microcephaly, Cupped ear, Protruding ear, Macroglossia, Atrial septal defect ORPHA:93947
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Lobar holoprosencephaly, Growth delay, Neonatal death, Intrauterine growth retardation, Semilobar... OMIM:618500
Martin-Probst Syndrome
Pancytopenia, Malar flattening, Microcephaly, Micrognathia, Cryptorchidism, Sensorineural hearing... OMIM:300519
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... OMIM:175050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... OMIM:602450
Sotos Syndrome
Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, Increased head circumf... ORPHA:821
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Abnormality o... ORPHA:477993
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral arteriovenous ... ORPHA:90307
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Thick corpus callosum OMIM:615476
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... OMIM:619573
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Thick lower lip vermilion, Hype... OMIM:246200
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Xerostomia, Downturned corners of mouth, Gastroesophageal reflux, Atrial sep... ORPHA:398069
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Relative macrocephaly, Inguinal hernia, Posteriorly rotated ears, Ventricular septal defect, Hype... OMIM:607721
Vater/Vacterl Association
Syndactyly, Abnormal nasopharynx morphology, Occipital encephalocele, Ventricular septal defect, ... OMIM:192350
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Atrial septa... ORPHA:438213
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Wide mouth, Cessation of head growth, Mandibular prognathia ORPHA:411515
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphat... ORPHA:568051
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Lymphatic Malformation 13
Depressed nasal bridge, Hypertelorism, Unilateral deafness, Patent ductus arteriosus, Hydrocele t... OMIM:620244
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation, Cerebral calcification, Intracranial hemorrhage ORPHA:624
Spondyloocular Syndrome
Long toe, Posteriorly rotated ears, Duodenal ulcer, Unilateral cryptorchidism, Abnormality of the... OMIM:605822
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Short palm, Thin upper lip vermilion, Recurrent respiratory infections, Brachydactyly, Posteriorl... ORPHA:466950
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cerebral white matter atrophy, Multiple joint contractures, Secundum atrial septal defect, Abnorm... ORPHA:99646
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced tee... ORPHA:98795
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Thin upper lip vermilion, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly... ORPHA:522077
Bilateral Polymicrogyria
4-layered lissencephaly, Micrognathia, Aplasia/Hypoplasia of the cerebral white matter, Sensorine... ORPHA:268940
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Atrial septal defect, Exaggerated cupid's bow, Microcephaly, Wide nasal br... OMIM:300896
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Malabsorption... ORPHA:83471
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndactyly, Abnormality... ORPHA:276280
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears ORPHA:250977
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... OMIM:102700
Isolated Exencephaly
Holoprosencephaly, Polyhydramnios ORPHA:563612
Angelman Syndrome
Abnormality of the gastrointestinal tract, Mandibular prognathia, Flat occiput, Precocious pubert... ORPHA:72
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Clapo Syndrome
Macrodactyly, Pectus excavatum, Varicose veins, Capillary malformation of the lip, Lymphangioma, ... ORPHA:168984
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... ORPHA:1880
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia ORPHA:3004
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology, Cellulitis ORPHA:79452
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Sandal gap, Malar prominence, Wide mouth, Large earlobe, Hypoplasia of the... ORPHA:2715
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Abnormality of the gingiva, Gastrointestinal dysmotility, Anorectal anomaly... ORPHA:285
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Venous insufficiency, Leukocytosi... ORPHA:542643
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... ORPHA:79093
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Micrognathia, Microcephaly, Wide mouth, Gastroesophageal reflux, Esophagitis ORPHA:79350
Norrie Disease
Venous insufficiency, Protruding ear, Hypoplasia of the iris, Hypotelorism, Deeply set eye, Aplas... ORPHA:649
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Holoprosencephaly 4
Semilobar holoprosencephaly OMIM:142946
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Short palm, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Broad nas... ORPHA:466943
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Ovarian gonadoblastoma, Congenital diaphragmatic hernia OMIM:194080
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Hartsfield Syndrome
Growth delay, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly OMIM:615465
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Anteverted nares, Hypertelorism, Bulbous no... ORPHA:1231
Cardiomyopathy, Dilated, 1Oo
Atrial septal defect, Dilated cardiomyopathy OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Gastroesophageal reflux, Pulmonic stenosis, Protruding tongue OMIM:614325
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Inguinal hernia OMIM:619115
Glomuvenous Malformation
Abnormality of the nasal cavity, Oral mucosa nodule, Gastrointestinal arteriovenous malformation,... ORPHA:83454
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Abnormali... ORPHA:1677
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy ORPHA:53296
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Recurrent respiratory infections, Microcephaly, Prominent nose, Hypertelorism, Abnormal pulmonary... OMIM:614748
Pmm2-Cdg
Mandibular prognathia, Cerebellar vermis hypoplasia, Multiple joint contractures, Prominent nose,... ORPHA:79318
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Short metacarpal, Microtia, third degree, Toe syndactyly, Aplastic z... OMIM:200110
Scheie Syndrome
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Wide mouth, Rhinitis, Thick vermili... ORPHA:93474
Penile Agenesis
Ventricular septal defect, Depressed nasal bridge, Posteriorly rotated ears, Rectal fistula, Mate... ORPHA:49
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal lung morphology, Ab... ORPHA:449395
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Hypochromic microcyt... ORPHA:97214
Ablepharon Macrostomia Syndrome
Omphalocele, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, U... ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Xerostomia, Semilobar holoprosencephaly OMIM:129900
Aspartylglucosaminuria
Recurrent respiratory infections, Hepatomegaly, Anteverted nares, Depressed nasal bridge, Microce... OMIM:208400
Combined Pituitary Hormone Deficiencies, Genetic Forms
Growth delay, Pituitary dwarfism, Holoprosencephaly, Delayed puberty ORPHA:95494
Diphallia
Abnormality of the gastrointestinal tract, Duplicated colon, Inguinal hernia, Rectoperineal fistu... ORPHA:227
Arima Syndrome
Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Postaxial hand polydac... OMIM:243910
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Cryptorchidism, Sensorineural hearing impairment, Hypotelorism, Wide mout... OMIM:300661
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Capillary malformation of the lip, Macrodactyly, Venous malformation OMIM:613089
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ... OMIM:619471
1P21.3 Microdeletion Syndrome
Broad nasal tip, Micrognathia, Wide mouth, Deeply set eye, Long ear, Macrocephaly, Short nose ORPHA:293948
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Microcephaly, Cryptorchidism, Postaxial hand... OMIM:308205
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment OMIM:251800
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Tendon xanthomatosis, Peripheral arterial stenosis, Calcification of ... ORPHA:391665
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061

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 Foxh1

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 Foxh1.

No publications found that use IMPC mice or data for Foxh1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Foxh1tm457305(Ifitm2_intron_L1L2_GT2_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Foxh1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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