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Gene: Pnn MGI:1100514

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Gene Summary

Name:
pinin
Synonyms:
D12Ertd512e

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Pnntm1.1(KOMP)Vlcg HOM   E9.5 0.00
preweaning lethality, complete penetrance Pnntm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Pnntm1.1(KOMP)Vlcg HOM   E12.5 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 25% (2 of 8)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 25% (2 of 8)
Embryo N/A heterozygote 25% (2 of 8)
Eye N/A heterozygote 25% (2 of 8)
Footplate N/A heterozygote 25% (2 of 8)
Forebrain N/A heterozygote 25% (2 of 8)
Forelimb N/A heterozygote 25% (2 of 8)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 25% (2 of 8)
Head N/A heterozygote 25% (2 of 8)
Heart N/A heterozygote 25% (2 of 8)
Hindbrain N/A heterozygote 25% (2 of 8)
Hindlimb N/A heterozygote 25% (2 of 8)
Liver N/A heterozygote 25% (2 of 8)
Lung N/A heterozygote 25% (2 of 8)
Mandibular process N/A heterozygote 25% (2 of 8)
Maxillary process N/A heterozygote 25% (2 of 8)
Midbrain N/A heterozygote 25% (2 of 8)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 25% (2 of 8)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 25% (2 of 8)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 25% (2 of 8)
Tail N/A heterozygote 25% (2 of 8)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Embryo LacZ

LacZ images wholemount

31 Images

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Adult LacZ

LacZ Images Section

8 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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Histopathology

Images

1 Images

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Human diseases caused by Pnn 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Cleft palate, Smooth philtrum, Truncus arteriosus, Intrauterine growth ret... OMIM:611867
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Myelomeningoc... OMIM:613686
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft palate, Cleft upper lip, Double outlet right ventricle, Right ao... OMIM:231060
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Cleft palate, Abnormal heart morphology, Stillbirth, Abnorma... ORPHA:294975
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Block ver... OMIM:277300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, High palate, Pierre-Robin sequence, Short stature, Long philtrum, Perimembranou... OMIM:617877
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Death in infancy, Vertebral fusion, Double outlet right ventricle, Short t... OMIM:618845
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... ORPHA:1354
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Transposition of the great art... ORPHA:261243
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Truncus... ORPHA:2516
Autosomal Recessive Spondylocostal Dysostosis
Cleft palate, Abnormal intervertebral disk morphology, Short stature, Abnormal form of the verteb... ORPHA:2311
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Intrauterine growth retardation, Abnormal sacrum morphology, Posterior rib fusion, ... ORPHA:1797
Fetal Trimethadione Syndrome
Ventricular septal defect, High palate, Intrauterine growth retardation, Transposition of the gre... ORPHA:1913
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Pectus excavatum, Abnormal hair morphology, Intrauterine growth retard... OMIM:608406
Spondylocostal Dysostosis 3, Autosomal Recessive
Short stature, Kyphosis, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral seg... OMIM:609813
Eng-Strom Syndrome
Ventricular septal defect, Pectus excavatum, Intrauterine growth retardation, Short stature, Abno... ORPHA:1937
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Disproportionate short-trunk short stature, Rib fusion, Short ... OMIM:608681
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Ventricular septal defect, Pectus excavatum, Growth delay, Double outl... OMIM:179613
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Truncus arteriosus OMIM:601355
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Short stature, Abnormality of the philtrum, Abnormal rib morphology, Thick eyeb... ORPHA:3268
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Hemivertebrae, Double o... OMIM:220210
Emanuel Syndrome
Ventricular septal defect, Cleft palate, Truncus arteriosus, High palate, Intrauterine growth ret... OMIM:609029
Emanuel Syndrome
Cleft palate, Truncus arteriosus, Patent ductus arteriosus, Delayed eruption of teeth, Aortic val... ORPHA:96170
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... ORPHA:401935
Cerebrofaciothoracic Dysplasia
Cleft palate, Wide mouth, Bifid ribs, Hemivertebrae, Cleft upper lip, Short stature, Coarse hair,... ORPHA:1394
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal aortic morphology, High palate, Intrauterine growth retarda... ORPHA:251071
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Pectus carinatum, Hemivertebrae, Posterior rib fusion, Mis... OMIM:122600
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Short stature, Submucous cleft hard ... ORPHA:3426
Poland Syndrome
Dextrocardia, Hemivertebrae, Short ribs, Sprengel anomaly, Rib fusion OMIM:173800
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Femoral-Facial Syndrome
Cleft palate, Short stature, Long philtrum, Abnormal sacrum morphology, Sprengel anomaly, Abnorma... ORPHA:1988
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Catel-Manzke Syndrome
Highly arched eyebrow, Ventricular septal defect, Cleft palate, Pectus excavatum, Short stature, ... ORPHA:1388
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Ventricular septal defect, Cleft palate, Ectopic anus, Abnor... ORPHA:2345
Becker Nevus Syndrome
Pectus excavatum, Pectus carinatum, Kyphosis, Lipoatrophy, Supernumerary ribs, Rib fusion, Spina ... ORPHA:64755
Kbg Syndrome
Vertebral fusion, Oligodontia, Long philtrum, Low anterior hairline, Short stature, Cervical ribs... OMIM:148050
Ververi-Brady Syndrome
Smooth philtrum, High palate, Wide mouth, Short stature, Intrauterine growth retardation, Transpo... OMIM:617982
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Abnormal sacrum morphology, ... ORPHA:1926
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Cleft palate, Smooth philtrum, Growth delay, ... ORPHA:1727
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... OMIM:615415
Thakker-Donnai Syndrome
Ventricular septal defect, Intrauterine growth retardation, Hemivertebrae, Rectovaginal fistula, ... ORPHA:1780
Scimitar Syndrome
Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Patent... ORPHA:185
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Ventricular septal defect, Abnormal aortic arch morphology, Biventricula... ORPHA:860
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Cleft palate, Microdontia of primary teeth, Sparse eyelashes, Short stature, Patent ductus arteri... OMIM:213980
Acrocardiofacial Syndrome
Ventricular septal defect, Death in infancy, Truncus arteriosus, Cleft palate, Intrauterine growt... ORPHA:2008
Microphthalmia, Syndromic 3
Ventricular septal defect, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Short stature, M... OMIM:206900
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Highly arched eyebrow, Ventricular septal defect, Smooth philtrum, Double outlet right ventricle,... OMIM:618316
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Macroglossia, Transposition of the great arteries, Everted lower lip vermilion, Open ... OMIM:616789
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip, Cervical C2/C3 vertebral fusion, Fused ... OMIM:214300
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Truncus arteriosus, Double outlet left ventricle, Aplasia of the left hemidiap... OMIM:600001
Meacham Syndrome
Bicuspid aortic valve, Death in infancy, Neonatal death, Aplasia of the left hemidiaphragm, Paten... OMIM:608978
Autosomal Recessive Robinow Syndrome
Death in infancy, Camptodactyly of finger, Vertebral segmentation defect, Umbilical hernia, Ventr... ORPHA:1507
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Abnormal mitral valve morphology, Mitral stenosis,... ORPHA:1461
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edem... ORPHA:3384
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, High palate, Pectus excavatum, Cleft palate, Pectus carinatum, Abnorma... OMIM:609654
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricusp... OMIM:617478
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Short Rib-Polydactyly Syndrome
Thoracic hypoplasia, Horizontal ribs, Cleft palate, Absent or minimally ossified vertebral bodies... ORPHA:1505
Lethal Congenital Contracture Syndrome 10
Omphalocele, Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtr... OMIM:617022
Lymphangiectasia, Intestinal
Abnormal hair morphology, Prominent floating ribs, Edema, Malabsorption, Stillbirth, Intestinal l... OMIM:152800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft palate, Hemivertebrae, Low anterior hairline, Short stature, Double outlet right ventricle,... OMIM:618223
Cardiac Diverticulum
Bicuspid aortic valve, Omphalocele, Tricuspid stenosis, Abnormal coronary artery origin, Mitral s... ORPHA:1686
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, High palate, Short stature, Joint contracture of the hand... OMIM:201000
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Cleft palate, High palate, Intrauterine growth retardation, Short stature, Long... ORPHA:2990
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus, Esophageal varix OMIM:616589
Tyshchenko Syndrome
High, narrow palate, Ventricular septal defect, Pectus excavatum, Cleft palate, High palate, Low ... OMIM:615102
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology, Atrioventricular canal defect... OMIM:314390
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Pectus excavatum, Cleft palate, High palate, Pectus cari... OMIM:616145
Sonoda Syndrome
Ventricular septal defect, Narrow mouth, Short stature OMIM:270460
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Intrauterine growth retar... OMIM:601186
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect, Short philtrum, Abnormal clavicle morphology, Rhizomelia,... ORPHA:93267
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Abnormal clavicle morphology, Abnormal rib morphology, Tetralogy of ... ORPHA:276422
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal vertebral morphology, Abnormal aortic valv... ORPHA:261197
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Omphalocele, Ventricular septal defect, Mitral atresia, Double outlet right ventric... OMIM:306955
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Omphalocele, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, N... OMIM:265380
Robinow Syndrome
Short stature, Broad alveolar ridges, Triangular mouth, Umbilical hernia, Ventricular septal defe... ORPHA:97360
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Ventricular septal defect, High palate, Long philtrum, Sparse lateral eyeb... ORPHA:261120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Intrauterine growth retardation, Hypoplasia o... ORPHA:2255
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Distal 22Q11.2 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus arteriosu... ORPHA:261330
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Short philtrum, Low anterior hairline, Sacr... OMIM:608227
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Patent ductus arteriosus OMIM:615297
Achondrogenesis, Type Ii
Horizontal ribs, Cleft palate, Edema, Disproportionate short-limb short stature, Stillbirth, Shor... OMIM:200610
Femoral-Facial Syndrome
Ventricular septal defect, Cleft palate, Truncus arteriosus, Smooth philtrum, Hemivertebrae, Long... OMIM:134780
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Short stature, Congenital di... ORPHA:1166
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormal r... ORPHA:2790
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
High palate, Persistent left superior vena cava, Double outlet right ventricle, Patent ductus art... ORPHA:3304
Noonan Syndrome 12
Ventricular septal defect, Pectus excavatum, Spinal canal stenosis, Polyhydramnios, 11 pairs of r... OMIM:618624
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Thoracic hypoplasia, Disproportionate short stature, Cleft palate, High palate, Pi... OMIM:618363
Metatropic Dysplasia
Long thorax, Cleft palate, Abnormal intervertebral disk morphology, Abnormal form of the vertebra... ORPHA:2635
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descending aorta morphology,... ORPHA:99050
Restrictive Dermopathy
Short nail, Patent ductus arteriosus, Small placenta, Camptodactyly of finger, Sparse hair, Large... ORPHA:1662
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Arthrogryposis, Distal, Type 1C
Cleft palate, Shoulder flexion contracture, High palate, Hip contracture, Short stature, Thin ver... OMIM:619110
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Truncus arteriosus, Hypertric... ORPHA:508498
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Vertebral fusion, Hemivertebrae, Block vertebrae, Missing ribs, Short ribs, Anal atres... OMIM:271520
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Dextrotransposition of t... OMIM:618619
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Intrauterine growth retardation, Vertebral fusion, Hemivertebrae, Polyhydramnios, Anal atresia, 1... ORPHA:94095
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Cleft palate, Abnormal form of the vertebral bodies, Low pos... ORPHA:280
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Widely spaced teeth, Thick lower lip vermilion, Ventricular septal defect, Cleft palate, Hypoplas... OMIM:280000
Filippi Syndrome
Hypodontia, Ventricular septal defect, Hypertrichosis, Short philtrum, Microdontia, Intrauterine ... OMIM:272440
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Short stature, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... OMIM:249670
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Neu-Laxova Syndrome 1
Thick lower lip vermilion, Short umbilical cord, Ventricular septal defect, Cleft palate, Intraut... OMIM:256520
Zttk Syndrome
Short stature, Patent ductus arteriosus, Intestinal atresia, Ventricular septal defect, High pala... OMIM:617140
Holt-Oram Syndrome
Ventricular septal defect, Abnormal aortic morphology, Pectus excavatum, Atrioventricular canal d... ORPHA:392
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thickened ribs, Death in infancy, Hypertrich... OMIM:230500
Multiple Pterygium Syndrome, Escobar Variant
Long clavicles, Cleft palate, High palate, Bilateral camptodactyly, Anterior clefting of vertebra... OMIM:265000
Achondrogenesis Type 1B
Disproportionate short stature, Long philtrum, Short thorax, Polyhydramnios, Severe short stature... ORPHA:93298
Trisomy 13
High, narrow palate, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Lo... ORPHA:3378
Multiple Pterygium Syndrome, X-Linked
Cleft palate, Intrauterine growth retardation, Thin ribs, Vertebral fusion, Cleft upper lip, Edem... OMIM:312150
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
White Forelock With Malformations
Abnormal palate morphology, Deep philtrum, White forelock, Sprengel anomaly, Atrial septal defect... ORPHA:2475
Chime Syndrome
Fine hair, Ventricular septal defect, Cleft palate, Hypodontia, Microdontia, Short philtrum, Supe... ORPHA:3474
Thoracoabdominal Syndrome
Omphalocele, Cleft palate, Ectopia cordis, Cleft upper lip, Congenital diaphragmatic hernia, Pate... OMIM:313850
Chromosome 15Q14 Deletion Syndrome
Highly arched eyebrow, Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip ... OMIM:616898
Meacham Syndrome
Ventricular septal defect, Conotruncal defect, Situs inversus totalis, Congenital diaphragmatic h... ORPHA:3097
Cog1-Cdg
Irregularity of vertebral bodies, Smooth philtrum, Atrial septal dilatation, Pierre-Robin sequenc... ORPHA:263508
Absence Of The Pulmonary Artery
Truncus arteriosus, Growth delay, Abnormal heart morphology, Abnormal coronary artery morphology,... ORPHA:980
Hadziselimovic Syndrome
Thick lower lip vermilion, Ventricular septal defect, High palate, U-Shaped upper lip vermilion, ... OMIM:612946
Primary Ciliary Dyskinesia
Persistent left superior vena cava, Situs inversus totalis, Abnormal heart morphology, Double out... ORPHA:244
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect, Intrauterine growth retar... ORPHA:2515
Prune Belly Syndrome
Ventricular septal defect, Pectus excavatum, Volvulus, Patent ductus arteriosus, Anal atresia, In... ORPHA:2970
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Tetralogy Of Fallot
Intrauterine growth retardation, Thin vermilion border, Tetralogy of Fallot ORPHA:3303
Pallister-Hall Syndrome
Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Hemivertebrae, Short st... OMIM:146510
Mcdonough Syndrome
Ventricular septal defect, Pectus excavatum, Sparse hair, Short philtrum, Pectus carinatum, Short... OMIM:248950
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Death in infancy, Abnormal aortic valve morphology, Atrioventricular canal... ORPHA:1120
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, ... ORPHA:2299
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Partial atrioventricular canal defect, Double outl... ORPHA:1330
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Intrauterine growth retardation, Hemivertebrae, Rectovaginal fistula, ... OMIM:227255
Cardiospondylocarpofacial Syndrome
Short stature, Long philtrum, Fused cervical vertebrae, Rib fusion, Abnormality of the dentition,... OMIM:157800
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy, Glossoptosis OMIM:614876
Aicardi Syndrome
Cleft palate, Butterfly vertebrae, Short philtrum, Bifid ribs, Cleft upper lip, Block vertebrae, ... ORPHA:50
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Truncus arteriosus, Sacral dimple, Patent ductus arteriosus OMIM:617516
Robinow Syndrome, Autosomal Recessive 1
Short stature, Absent uvula, Hypoplastic sacrum, Thin upper lip vermilion, Umbilical hernia, Tria... OMIM:268310
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Umbilical hernia, Neonatal short-limb short statur... OMIM:600972
Mosaic Trisomy 14
Cleft palate, High palate, Wide mouth, Ectopic anus, Narrow chest, Abnormal rib morphology, Campt... ORPHA:1703
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Omphalocele, Mitral valve prolapse, Hirsutism, ... ORPHA:371428
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine growth re... OMIM:270100
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Wide mouth, Short statu... OMIM:615279
8P23.1 Duplication Syndrome
Highly arched eyebrow, Ventricular septal defect, Long philtrum, Pulmonic stenosis, Tetralogy of ... ORPHA:251076
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Cleft palate, Butterfly vertebrae, Duodenal atresia, Submucous cleft h... OMIM:301043
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Abnormal form of the vertebral bodies, Short thorax,... ORPHA:1801
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Anomalous branc... ORPHA:363705
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Thoracic hypoplasia, Ventricular septal defect, Cleft palate, Intrau... OMIM:616897
Schneckenbecken Dysplasia
Anterior rib cupping, Cleft palate, Lateral clavicle hook, Hypoplastic scapulae, Disproportionate... OMIM:269250
3C Syndrome
Death in infancy, Cleft palate, Short stature, Postnatal growth retardation, Aortic valve stenosi... ORPHA:7
German Syndrome
Lymphedema, High palate, Short stature, Synophrys, Arthrogryposis multiplex congenita, Abnormal e... ORPHA:2077
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Cleft palate, Cleft upper lip, Ye... OMIM:153400
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia, Generalized hirsutism ORPHA:1918
Multiple Pterygium Syndrome, Lethal Type
Cleft palate, Intrauterine growth retardation, Thin ribs, Vertebral fusion, Edema, Polyhydramnios... OMIM:253290
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypodontia, Ventricular septal defect, Megarectum, Butterfly vertebrae, Hirsutism, Short stature,... OMIM:301056
Thoracic Outlet Syndrome
Edema, Varicose veins, Abnormal rib morphology ORPHA:97330
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Long philtrum, Persistent left... ORPHA:477817
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Tongue fasciculations OMIM:253300
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Abnormal sternum morpholog... OMIM:615355
Kniest-Like Dysplasia, Lethal
Cleft palate, Coronal cleft vertebrae, Edema, Rhizomelia, Short ribs, Patent ductus arteriosus, P... OMIM:245190
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormality of the de... OMIM:616901
Fibrochondrogenesis 1
Omphalocele, Cleft palate, Short ribs, Joint contracture of the hand, Camptodactyly, Hydrops feta... OMIM:228520
Aicardi Syndrome
Cleft palate, Butterfly vertebrae, Bifid ribs, Hemivertebrae, Cleft upper lip, Block vertebrae, S... OMIM:304050
Simpson-Golabi-Behmel Syndrome, Type 1
Cleft palate, Short nail, Short ribs, Patent ductus arteriosus, Six lumbar vertebrae, Vertebral s... OMIM:312870
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Ventricular septal defect, Pectus excavatum, Mitral val... OMIM:249420
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Ventricular septal defect, Omphalocele, Abnormal heart morphology, Coat hang... ORPHA:254534
Digeorge Syndrome
Interrupted aortic arch, High, narrow palate, Ventricular septal defect, Cleft palate, Truncus ar... OMIM:188400
Mucopolysaccharidosis Type 4
Carious teeth, Spinal canal stenosis, Wide mouth, Pectus carinatum, Short stature, Short thorax, ... ORPHA:582
22Q11.2 Deletion Syndrome
Carious teeth, Cleft palate, Truncus arteriosus, Short stature, Abnormal dental enamel morphology... ORPHA:567
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Noonan Syndrome 2
Shield chest, Short stature, Abnormal sternum morphology, Abnormal coronary artery origin, Mitral... OMIM:605275
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia, Postnatal growth retardation, Short stature OMIM:614326
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Wide mouth, Low anterior hairline, Long philtrum, Low posterior hair... ORPHA:1517
Mmep Syndrome
Ventricular septal defect, Median cleft lip, Oral cleft ORPHA:3434
Diamond-Blackfan Anemia 6
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Growth delay, Cleft upper lip, Ve... OMIM:612561
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Intrauterine growth retardation, Disproportionate short-limb short sta... ORPHA:2772
Desbuquois Syndrome
Ventricular septal defect, Disproportionate short-limb short stature, Severe short stature, Bell-... ORPHA:1425
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Ventricular septal defect, Pectus excavatum, Smooth philtrum, High palate,... OMIM:270450
Phaver Syndrome
Ventricular septal defect, Butterfly vertebrae, Intrauterine growth retardation, Myelomeningocele... ORPHA:2876
15Q14 Microdeletion Syndrome
Ventricular septal defect, Cleft palate, Smooth philtrum, Short philtrum, Short stature, Long phi... ORPHA:261190
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Ventricular septal defect, Cleft palate, Laterally extended eyebrow, Short... OMIM:600987
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Pectus excavatum, Cleft palate, Growth delay, Short stature, Cleft upper lip, Conge... OMIM:614294
Achondrogenesis Type 1A
Long philtrum, Multiple rib fractures, Short thorax, Polyhydramnios, Severe short stature, Narrow... ORPHA:93299
Recombinant 8 Syndrome
Ventricular septal defect, Pectus excavatum, Cleft palate, Abnormal hair morphology, Cleft upper ... ORPHA:96167
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Cleft palate, Coronal cleft vertebrae, Severe short-limb dwarfism, Edema, S... ORPHA:2347
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sparse eyelashes, Celiac disease, Alopecia, Sparse eyebrow, Absent eyelashes, Polyhydramnios, Abs... ORPHA:544488
Maternal Phenylketonuria
Ventricular septal defect, High palate, Intrauterine growth retardation, Long philtrum, Double ou... ORPHA:2209
Diamond-Blackfan Anemia 7
Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Growth delay, Esophagit... OMIM:612562
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Short lingual frenulum, Growth delay, S... ORPHA:2326
Cooper-Jabs Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Missing ribs, Abnormal... ORPHA:1488
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the hairline, Short stature, Growth delay, Double outlet right ventricle, Patent d... OMIM:614886
Progeroid Facial Appearance With Hand Anomalies
Short philtrum, Thin vermilion border, Reduced subcutaneous adipose tissue, Oligohydramnios, Narr... OMIM:602249
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Ventricular septal defect, Oligohydramnios, Intrauterine growth retardation, Patent ductus arteri... OMIM:617021
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Short stature OMIM:614947
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Omphalocele, Patent ductus arteriosus, Atrial septal de... OMIM:601927
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Omphalocele, Thin ribs, Long philtrum, Kyphoscoliosis,... OMIM:608149
Feingold Syndrome Type 2
Ventricular septal defect, Short stature, Jejunal atresia ORPHA:391646
Renpenning Syndrome
High, narrow palate, Pectus excavatum, Cleft palate, Short philtrum, Thin eyebrow, Growth delay, ... ORPHA:3242
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Neonatal death, Short ribs... OMIM:187601
Vater/Vacterl Association
Patent urachus, Ventricular septal defect, Intrauterine growth retardation, Abnormal vertebral mo... OMIM:192350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Pulmonic stenosis, Transposition of the great arteries, Spinal rigidity, ... OMIM:253800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Ventricular septal defect, Death in infancy, Cleft palate, Smooth phi... OMIM:235255
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Cranioacrofacial Syndrome
Ventricular septal defect, Dupuytren contracture, Pulmonic stenosis OMIM:122850
Li-Campeau Syndrome
Ventricular septal defect, Hypertrichosis, Short stature, Long philtrum, Patent ductus arteriosus... OMIM:619189
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Smooth philtrum, Diastema, Wi... ORPHA:329224
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Lumbar hypertrichosis, Wide mouth, Peripheral pulmonary artery stenosi... ORPHA:163956
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Cleft palate, Pectus excavatum, Smooth philtru... OMIM:618348
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Cleft palate, Myelomeningocele, Abnormal vertebral... ORPHA:66637
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short stature, Abnormal clavicle morphology, Kyphosis, Fused cervical vertebrae... ORPHA:2522
Carpenter Syndrome 2
Dextrocardia, Highly arched eyebrow, Pectus excavatum, High palate, Hypoplastic nipples, Pectus c... OMIM:614976
Mucopolysaccharidosis, Type Ivb
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Intimal thickening in the... OMIM:253010
Osteogenesis Imperfecta, Type Ix
Pectus excavatum, Pectus carinatum, Disproportionate short-limb short stature, Platyspondyly, Kyp... OMIM:259440
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Non-midline cleft lip, Hypoplastic left he... ORPHA:2476
Spondylo-Ocular Syndrome
Ventricular septal defect, Abnormal intervertebral disk morphology, Short stature, Long philtrum,... ORPHA:85194
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hirsutism, Esophageal varix, Hip contracture, Mitral atresia, Delayed eruption of teeth, Subvalvu... OMIM:619503
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Cleft palate, Cleft lip, Pericallosal lipoma, Narrow mouth, Broad phil... ORPHA:398156
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Oligohydramnios, Atrial septal defect, Hydrops fetalis ORPHA:1909
Wolf-Hirschhorn Syndrome
Cleft palate, Short stature, Abnormal form of the vertebral bodies, Low posterior hairline, Short... OMIM:194190
Roifman Syndrome
Ventricular septal defect, Intrauterine growth retardation, Noncompaction cardiomyopathy, Hip con... OMIM:616651
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Mitral valve prolapse, ... OMIM:616564
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Hemivertebrae, Abnormality of the philtrum, Aplasia/Hypoplasia of the to... ORPHA:2759
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Wide mouth, Branchial anomaly, Inguin... ORPHA:1296
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Anal atresia, Atrial septal defect, Narrow mouth ORPHA:3469
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Ventricular septal defect, High palate, Long philtrum, Cleft soft palate, El... OMIM:117650
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal palate morphology, Intrauterine growth retardation, Abnormal rib morphology ORPHA:1506
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Short stature ORPHA:1513
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Ventricular septal defect, Cleft palate, Ectopic anus, Short philtrum, Dow... ORPHA:94066
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Pectus excavatum, Butterfly vertebrae, Coronal cleft vertebrae, Short ... OMIM:618870
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Edema, Cardiomyocyte hypertrophy, Death in adolescence, Woolly hair, Deat... OMIM:605676
Joubert Syndrome 18
Ventricular septal defect, Intrauterine growth retardation, Kyphoscoliosis, Camptodactyly OMIM:614815
Juberg-Hayward Syndrome
Highly arched eyebrow, Intrauterine growth retardation, Abnormal vertebral morphology, Abnormal e... ORPHA:2319
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Short philtrum, Growth delay, Patent ductus arteriosus, Atrial septal ... OMIM:300963
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hypoplastic nipples, Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, ... OMIM:269860
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hernia of the abdominal wall, Abnormal palate morphology, Abnormal hair morphology, Pectus carina... ORPHA:3082
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot with absent pul... OMIM:239711
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, High palate, Short stature, Postnatal growth retardation, Broad second... ORPHA:3369
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal cardiac septum morpholog... ORPHA:93941
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Downturned corners of mouth, Enamel hypopl... ORPHA:2643
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flaring of lower rib cage, Posterior wedging of vertebral bodies, Aplasia/Hy... ORPHA:168549
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Truncus arteriosus, Growth delay, Rectovaginal fistula, Esophagit... ORPHA:2538
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Increased anterioposterior diameter of thorax, Ventricular septal defect, Mixed tot... ORPHA:99125
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Wide mouth, Short statu... OMIM:610733
Pontine Tegmental Cap Dysplasia
Impaired mastication, Scoliosis, Hemivertebrae, Rib fusion OMIM:614688
Diastrophic Dysplasia
Cleft palate, Intrauterine growth retardation, Neonatal short-limb short stature, Abnormal clavic... ORPHA:628
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Coarctation of aorta, Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Open bite, Short stature, Sprengel ... ORPHA:2097
1P36 Deletion Syndrome
Dilated cardiomyopathy, Pyloric stenosis, Abnormal intestine morphology, Short stature, Patent du... ORPHA:1606
Fibrochondrogenesis
Omphalocele, Cleft palate, Hypoplastic scapulae, Short stature, Abnormal form of the vertebral bo... ORPHA:2021
Mucopolysaccharidosis, Type Iva
Carious teeth, Widely spaced teeth, Hypoplasia of the odontoid process, Wide mouth, Cervical subl... OMIM:253000
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Ventricular septal defect, Pectus excavatum, High palate, Intrauterine growth reta... OMIM:617602
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Abnormal sternum morphology, Short ribs, Patent ductus arteriosus, Atr... ORPHA:2519
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, High palate, Cleft palate, Pectus excavatum, Short stature, Patent duc... ORPHA:52055
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Atrial septal defect, Pectus excavatum, Camptodactyly OMIM:613458
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Intrauterine growth retarda... OMIM:612938
Three M Syndrome 2
High palate, Intrauterine growth retardation, Thin ribs, Pectus carinatum, Long philtrum, Short s... OMIM:612921
Transaldolase Deficiency
Ventricular septal defect, Intrauterine growth retardation, Short philtrum, Wide mouth, Coarctati... OMIM:606003
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Unossified vertebral bodies, Stillbirth, Short ribs, Polyh... OMIM:200600
Isolated Dandy-Walker Malformation
Cleft palate, Tetralogy of Fallot ORPHA:217
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Ventricular septal defect, Lateral clavicle hook, Short stature, Short ribs,... OMIM:615630
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect, High palate, Short stature, Broad alveolar ridges, Inguinal hernia OMIM:314320
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Highly arched eyebrow, Ventricular septal defect, High palate, Intrauterine growth retardation, S... OMIM:617452
Baller-Gerold Syndrome
Perineal fistula, Cleft palate, High palate, Short stature, Abnormal vertebral morphology, Rectov... OMIM:218600
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Abnormal rib morphology, Low posterior hairline, Short neck, Vertebral segmentatio... ORPHA:2578
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Rectal prolapse, Hirsutism, Oligodontia, Joint contracture of the hand, Delayed ... OMIM:235510
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic root aneurysm, Patent ductus arteriosus, 11... OMIM:607872
8Q24.3 Microdeletion Syndrome
Branchial cyst, Smooth philtrum, Truncus arteriosus, Short stature, Patent ductus arteriosus, Thi... ORPHA:508488
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Pectus excavatum, Meckel diverticulum, Abnormal heart morphology, Abnormal... ORPHA:2847
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Cleft palate, Abnormal sternum morphology, Congenital dia... ORPHA:1335
Craniosynostosis, Herrmann-Opitz Type
Cleft palate, Intrauterine growth retardation, Short stature, Oligohydramnios, Abnormal rib morph... ORPHA:2145
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Cleft palate, Anterior rib cupping, Pectus carinatum, Platyspondyly, Severe sh... OMIM:184250
Coffin-Siris Syndrome 10
Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Cerebrocostomandibular Syndrome
Meningocele, Ventricular septal defect, Cleft palate, Death in infancy, Intrauterine growth retar... ORPHA:1393
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Ventricular septal defect, High palate, Cleft palate, Intrauterine growth retardation, Short stat... OMIM:617164
Campomelia, Cumming Type
Abnormal intestine morphology, Cleft palate, Death in infancy, Abnormal thorax morphology, Oligoh... ORPHA:1318
King-Denborough Syndrome
Ventricular septal defect, High palate, Short stature, Kyphoscoliosis, Deep philtrum, Thoracic ky... OMIM:619542
Melnick-Needles Syndrome
Omphalocele, Short clavicles, Short stature, Tooth malposition, Short thorax, Delayed eruption of... ORPHA:2484
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Polyhydramnios, Narrow chest, Bell-shaped thorax, Thoraci... OMIM:615633
Timothy Syndrome
Ventricular septal defect, Microdontia, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fall... OMIM:601005
Viss Syndrome
Left aortic arch with retroesophageal right subclavian artery, Hirsutism, Short stature, Tortuous... OMIM:619472
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Ventricular septal defect, Omphalocele, Lateral clavicle ho... OMIM:617895
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Ventricular septal defect, Butterfly vert... ORPHA:79345
3P25.3 Microdeletion Syndrome
Pyloric stenosis, High, narrow palate, Ventricular septal defect, Cleft palate, Short philtrum, C... ORPHA:435638
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Frontometaphyseal Dysplasia 1
Cor pulmonale, Ankle flexion contracture, High palate, Mitral valve prolapse, Hirsutism, Coat han... OMIM:305620
Trisomy 1Q
Omphalocele, Ventricular septal defect, Cleft palate, Congenital diaphragmatic hernia, Short thor... ORPHA:261344
Holzgreve Syndrome
Cleft palate, Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Bifid tongue, Ol... ORPHA:2167
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hemivertebrae, Abnormal form of the vertebral bodies, Abnormal dental enamel morphol... ORPHA:2180
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect, Scoliosis, Keloids ORPHA:357225
Acro-Renal-Mandibular Syndrome
High palate, Butterfly vertebrae, Thin ribs, Hypoplastic scapulae, Pectus carinatum, Short philtr... ORPHA:958
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Pectus excavatum, Diastema, Wide mouth, Hirsutism, Short stature, Ging... OMIM:212066
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Duodenal atresia, Abnormal tricuspid valve... ORPHA:3405
Vacterl/Vater Association
Omphalocele, Cleft palate, Abnormal intervertebral disk morphology, Intrauterine growth retardati... ORPHA:887
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Cat-Eye Syndrome
Intrauterine growth retardation, Abnormal rib morphology, Short stature, Anal atresia ORPHA:195
Loeys-Dietz Syndrome 5
Cleft palate, Smooth philtrum, Short stature, Aortic root aneurysm, Ventricular septal defect, Hi... OMIM:615582
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Wide-cupped costochondral junctions, Neonatal death, Short ribs... OMIM:187600
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Pectus excavatum, Cleft palate, High palate, Short stature, Kyphoscoliosis... OMIM:114300
Mucopolysaccharidosis, Type Iiid
Thick lower lip vermilion, Ovoid thoracolumbar vertebrae, Thickened ribs, Hirsutism, Wide mouth, ... OMIM:252940
Leopard Syndrome 3
Shield chest, Growth delay, Short stature, Abnormal mitral valve morphology, Abnormal aortic valv... OMIM:613707
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Intrauterine growth retardation, Short stature, Long philtrum, Brittle... ORPHA:75389
Hydrocephaly-Low Insertion Umbilicus Syndrome
Hernia of the abdominal wall, Abnormal thorax morphology, Patent ductus arteriosus, Tetralogy of ... ORPHA:2184
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Cleft palate, Smooth philtrum, Submucous cleft soft... ORPHA:500150
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... OMIM:617044
Lymphatic Malformation 6
Pectus excavatum, Nonimmune hydrops fetalis, Ascites, Short stature, Edema, Chylothorax, Facial e... OMIM:616843
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Cleft palate, High palate, Intrauterine growth retardati... ORPHA:99776
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Highly arched eyebrow, Ventricular septal defect, High palate, Intrauterine growth retardation, P... OMIM:618142
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Pectus excavatum, Short philtrum, Pectus carinatum, Aortic root aneury... OMIM:301039
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Distichiasis, Pedal edema, P... OMIM:126320
3M Syndrome
Horizontal ribs, Intrauterine growth retardation, Thin ribs, Short stature, Long philtrum, Short ... ORPHA:2616
Jeune Syndrome
Short stature, Abnormal sternum morphology, Abnormal clavicle morphology, Short thorax, Narrow ch... ORPHA:474
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Pectus excavatum, High palate, Umbilical hernia, Cleft upper lip, Pate... OMIM:612582
8Q12 Microduplication Syndrome
Highly arched eyebrow, Ventricular septal defect, Long philtrum, Atrial septal defect, Narrow mou... ORPHA:228399
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Ventricular septal defect, High palate, Mitral valve prolapse, Distal arth... OMIM:121050
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, High palate, Short philtrum, Growth delay, Drooling, Hernia, Tetralogy... ORPHA:3306
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Cleft palate, Growth delay, Short stature, Alopecia, Ab... OMIM:147770
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Pectus excavatum, Ascending tubular aorta aneurysm, High palate, Short... OMIM:309520
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Ventricular septal defect, Arthrogryposis multiplex congenita, Pulmonic stenosi... OMIM:614262
Greenberg Dysplasia
Omphalocele, Abnormal intestine morphology, Neonatal death, Short ribs, 11 pairs of ribs, Sternal... OMIM:215140
Kapur-Toriello Syndrome
Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Cleft upper lip, Joint ... OMIM:244300
Microphthalmia, Syndromic 2
Oligodontia, Short stature, Patent ductus arteriosus, Delayed eruption of teeth, Aortic valve ste... OMIM:300166
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Intrauterine growth retardation, Coarctati... ORPHA:1923
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Growth delay, Hemivertebrae, Abnormal vertebral morphology, Esophageal... ORPHA:77298
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormal intestine morphology, Short stature, Congenital diaphragmatic hernia, Abnor... ORPHA:1834
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Atrial septal d... OMIM:618974
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Highly arched eyebrow, Smooth philtrum, Cleft palate, Pectus carinatum, Long philtrum, Hemiverteb... OMIM:614701
Wolcott-Rallison Syndrome
Growth delay, Short stature, Ascites, Double outlet right ventricle, Atrial septal defect, Dehydr... ORPHA:1667
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Serkal Syndrome
Ventricular septal defect, Growth delay, Congenital diaphragmatic hernia, Malrotation of small bo... ORPHA:139466
Mucopolysaccharidosis Type 6
Thick lower lip vermilion, Macroglossia, Hernia, Kyphosis, Ovoid vertebral bodies, Abnormal heart... ORPHA:583
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Cleft palate, Pierre-Robin sequence, Short stature, Joint contracture of the hand, P... OMIM:300373
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Hirsutism, Kyphoscoliosis, Coarse hair, Hernia, Ev... OMIM:252930
Distal Monosomy 15Q
Bicuspid aortic valve, Abnormal aortic arch morphology, Cleft palate, Intrauterine growth retarda... ORPHA:1596
Lateral Meningocele Syndrome
Meningocele, High, narrow palate, Ventricular septal defect, High palate, Smooth philtrum, Pectus... ORPHA:2789
Alagille Syndrome
Ventricular septal defect, Intrauterine growth retardation, Short philtrum, Peripheral pulmonary ... ORPHA:52
Teebi-Shaltout Syndrome
High, narrow palate, Ventricular septal defect, Cleft palate, Pectus excavatum, Smooth philtrum, ... OMIM:272950
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, High palate, Hip contract... ORPHA:1145
Suleiman-El-Hattab Syndrome
Thick lower lip vermilion, Highly arched eyebrow, Ventricular septal defect, Smooth philtrum, Hig... OMIM:618950
Triploidy
Meningocele, Omphalocele, Cleft palate, Intrauterine growth retardation, Wide mouth, Macroglossia... ORPHA:3376
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypodontia, Cleft palate, Misalignment of incisors, Pierre-Robin sequence, Oligodontia, Intrauter... OMIM:619184
Hurler Syndrome
Spinal canal stenosis, Death in infancy, Growth delay, Short stature, Abnormal vertebral morpholo... ORPHA:93473
Burn-Mckeown Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, ... OMIM:608572
Aase-Smith Syndrome I
Ventricular septal defect, Cleft palate, Death in infancy, Open mouth, Flexion contracture OMIM:147800
Brachydactyly, Type B1
Ventricular septal defect, Delayed eruption of permanent teeth, Vertebral fusion, Hemivertebrae, ... OMIM:113000
Lethal Congenital Contracture Syndrome Type 1
Short stature, Abnormal form of the vertebral bodies, Polyhydramnios, Abnormal rib morphology, Sh... ORPHA:1486
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Widely spaced teeth, Ventricular septal defect, High palate, Wide mouth, Low anterior hairline, S... ORPHA:369891
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Intrauterine growth retardation, Short philtrum, Thin ribs, Wide mouth, Short s... ORPHA:163966
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Smooth philtrum, Peripheral pulmonary artery stenosis, Short stature, Aortic root aneurysm, Paten... OMIM:617506
Doors Syndrome
Cleft palate, Sirenomelia, 11 pairs of ribs, Thin upper lip vermilion, Broad alveolar ridges, Hig... ORPHA:79500
Koolen-De Vries Syndrome
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Short stature, Aortic root aneurysm, Paten... OMIM:610443
Teebi Hypertelorism Syndrome 1
Omphalocele, Ventricular septal defect, Highly arched eyebrow, Short stature, Long philtrum, Atri... OMIM:145420
Mucopolysaccharidosis, Type Vi
Hirsutism, Anterior wedging of L1, Macroglossia, Cardiomyopathy, Prominent sternum, Inguinal hern... OMIM:253200
Chromosome 9P Deletion Syndrome
High, narrow palate, Ventricular septal defect, High palate, Omphalocele, Highly arched eyebrow, ... OMIM:158170
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Duodenal stenosis, Abnor... ORPHA:210122
Isotretinoin-Like Syndrome
Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Conotruncal defect, Abnormality of ... ORPHA:2306
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Anterior rib cupping, Thin ribs, Low anterior hairline, Short stature, Platyspondyly... OMIM:300232
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft lip and palate, Omphalocele, Ventricular septal defect, Cleft upper lip, Scoliosis OMIM:601357
Myhre Syndrome
Abnormal lip morphology, Cleft palate, Intrauterine growth retardation, Gingival cleft, Thin verm... ORPHA:2588
Pallister-Hall Syndrome
Distal arthrogryposis, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, ... ORPHA:672
Cole-Carpenter Syndrome 2
Pectus excavatum, High palate, Thin ribs, Short stature, Platyspondyly, Kyphosis, Oligohydramnios... OMIM:616294
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Cleidocranial Dysplasia
Carious teeth, High, narrow palate, Short clavicles, Cleft palate, Dystrophic fingernails, Hypopl... ORPHA:1452
Weill-Marchesani Syndrome 1
Ventricular septal defect, Spinal canal stenosis, Short stature, Tooth malposition, Proportionate... OMIM:277600
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Cleft palate, Short stature, Patent ductus arteriosus, Cleft lip, Camptodactyly, Hyp... OMIM:616894
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Horizontal ribs, Cleft palate, Lateral clavicle hook, Pectus carinatum... OMIM:263520
Larsen Syndrome
Spondylolysis, Ventricular septal defect, Pectus excavatum, Cleft palate, Hypodontia, Pectus cari... OMIM:150250
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Cleft palate, Intrauterine growth retardation, Short stat... ORPHA:1908
Warsaw Breakage Syndrome
Ventricular septal defect, High palate, Intrauterine growth retardation, Wide mouth, Tetralogy of... OMIM:613398
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Ventricular septal defect, Smooth philtrum, Cleft palate, Low anterior hai... ORPHA:404440
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Intestinal malrotation, Type I truncus arteriosus, Secundum ... OMIM:156810
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hemivertebrae, Short stature, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sho... ORPHA:2234
Costello Syndrome
Hypertrophic cardiomyopathy, Thick lower lip vermilion, Ventricular septal defect, Mitral valve p... ORPHA:3071
Fryns Syndrome
Omphalocele, Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic mor... ORPHA:2059
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, High palate, Growth delay, Long philtrum, Patent ductus arteriosus, Na... OMIM:613457
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Inguinal hernia, Unilateral cleft lip, Unilateral cleft palate, Supernumerary r... OMIM:619122
Campomelic Dysplasia
Thoracic hypoplasia, Cleft palate, Thin ribs, Hypoplastic scapulae, Neonatal short-limb short sta... OMIM:114290
Lymphatic Malformation 5
Cleft palate, Yellow nails, Hypoplasia of lymphatic vessels, Facial edema, Predominantly lower li... OMIM:153200
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Intrauterine growth retardation, Growth delay, Short stature, Bifid uv... OMIM:301030
Mosaic Trisomy 20
Ventricular septal defect, Cleft palate, Spinal canal stenosis, Dysplastic tricuspid valve, Verte... ORPHA:1724
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cleft palate, Growth delay, Cleft upper lip, Coarctation of aorta, Pat... OMIM:600460
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Smooth philtrum, Cardiomegaly, Patent ductus arteriosus, Downturned co... OMIM:618652
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Ventricular septal defect, Smooth philtrum, High palate, Alveolar rid... ORPHA:1655
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Abnormal heart morpholog... ORPHA:500159
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Short ribs, Be... OMIM:187760
Craniofaciofrontodigital Syndrome
Pectus excavatum, Short stature, Long philtrum, Abnormal heart morphology, Hypoplastic vertebral ... OMIM:114620
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, High palate, Pectus excavatum, Short stature, Bifid uvula, Patent duct... OMIM:300472
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Death in infancy, Intrauterine growth retardation, Duodenal atresia, G... OMIM:300514
15Q11.2 Microdeletion Syndrome
Abnormal palate morphology, Ventricular septal defect, Abnormal heart morphology, Total anomalous... ORPHA:261183
Ellis-Van Creveld Syndrome
Horizontal ribs, Hypodontia, Pectus carinatum, Abnormality of the alveolar ridges, Cleft upper li... OMIM:225500
Bohring-Opitz Syndrome
Ventricular septal defect, Cleft palate, Hirsutism, Intrauterine growth retardation, Low anterior... OMIM:605039
Gm1 Gangliosidosis
Ventricular septal defect, Hirsutism, Cherry red spot of the macula, Long philtrum, Macroglossia,... ORPHA:354
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Ventricular septal defect, Intrauterine growth retardation, Intestinal malrotation, ... OMIM:243150
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Hirsutism, Coarse hair, Asymmetric septal hypertro... OMIM:252900
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Short stature, Rhizomelia, Short ribs, Amelogenesis ... OMIM:610319
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Highly arched eyebrow, Ventricular septal defect, High palate, Limb joint contracture, Intrauteri... ORPHA:505237
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Short stature, Right ventricular hypertrophy, Atrial sep...