Gene Summary

Name:
proprotein convertase subtilisin/kexin type 5
Synonyms:
SPC6,  PC6,  b2b1549Clo,  PC5A,  PC5/6A,  b2b585Clo

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Pcsk5tm1b(KOMP)Mbp HET Early adult 5.98×10-05
hemorrhage Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
abnormal limb morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
decreased circulating HDL cholesterol level Pcsk5tm1b(KOMP)Mbp HET Early adult 1.34×10-06
abnormal tail morphology Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
increased fasting circulating glucose level Pcsk5tm1b(KOMP)Mbp HET   Early adult 7.79×10-05
cleft palate Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal facial morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
increased heart weight Pcsk5tm1b(KOMP)Mbp HET Early adult 3.14×10-06
preweaning lethality, complete penetrance Pcsk5tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal neural tube closure Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
increased lean body mass Pcsk5tm1b(KOMP)Mbp HET Early adult 8.92×10-06
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
hyperactivity Pcsk5tm1b(KOMP)Mbp HET Early adult 1.81×10-05
increased bone mineral content Pcsk5tm1b(KOMP)Mbp HET Early adult 2.14×10-05
decreased circulating cholesterol level Pcsk5tm1b(KOMP)Mbp HET Early adult 7.64×10-06
abnormal body wall morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal limb morphology Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
hemorrhage Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal tail morphology Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
abnormal tail morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal limb bud morphology Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
embryonic growth retardation Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00

Download data as:  TSV  XLS

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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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

29 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Pcsk5 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 Pcsk5 by phenotypic similarity.

<
Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... OMIM:618300
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... OMIM:618254
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:608644
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Phocomelia, Clinodactyly of the 5th finger, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... OMIM:614017
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Ciliary Dyskinesia, Primary, 17
Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia... OMIM:614679
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Abnormal heart morph... ORPHA:294975
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:615504
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom... OMIM:605376
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Ciliary Dyskinesia, Primary, 30
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... OMIM:616037
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:615505
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... OMIM:614874
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:616481
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... OMIM:615482
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:615500
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia OMIM:613193
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... OMIM:314390
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b... OMIM:274000
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Ciliary Dyskinesia, Primary, 14
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... OMIM:613807
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Dextrocardia, Situs inversus totalis, Bronchiectasis, Decreased na... OMIM:615444
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:612650
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Recombinant 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Pectus ex... ORPHA:96167
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a... ORPHA:1834
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... ORPHA:90652
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due t... OMIM:614935
Czeizel-Losonci Syndrome
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Posterolateral ... ORPHA:2437
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent si... OMIM:620197
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... OMIM:618845
Nail-Patella Syndrome
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... ORPHA:2614
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Osteopathia striata, High palate, Gastroesophageal reflux, Atrial septal defect, Cl... OMIM:300373
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Bilateral single transverse palmar creases, Short neck, Micrognathia, ... ORPHA:2516
Vacterl/Vater Association
Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Ec... ORPHA:887
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... OMIM:608647
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... OMIM:619607
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... ORPHA:2631
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Atrial septal defect, Pulmonary artery atresia, ... OMIM:618316
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Atrial septal defect, Ventricular septal defect, Intestin... ORPHA:401935
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short... OMIM:617022
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... ORPHA:958
Boomerang Dysplasia
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... ORPHA:1263
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Ho... OMIM:613630
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Absent thumb, Short neck, Esophageal atresia, Patent ... OMIM:300514
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d... ORPHA:2970
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... OMIM:256050
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, High palate, Clinoda... OMIM:201000
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... OMIM:613808
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... OMIM:108720
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ri... OMIM:173800
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru... OMIM:616589
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr... ORPHA:185
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... ORPHA:1354
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft palate, Renal cyst, Right aortic arch, Transpositio... OMIM:231060
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular sept... ORPHA:93267
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal r... ORPHA:2538
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... ORPHA:261272
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... OMIM:161200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... ORPHA:2141
Emanuel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, High palate, Gastroeso... OMIM:609029
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulat... OMIM:220210
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, Po... OMIM:265380
You-Hoover-Fong Syndrome
Pectus excavatum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double aortic ... OMIM:616954
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal rib morphology, Trach... ORPHA:93941
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... ORPHA:3035
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Flexi... ORPHA:115
Li-Campeau Syndrome
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Patent ductus arterio... OMIM:619189
Kagami-Ogata Syndrome
Omphalocele, Atrial septal defect, Inguinal hernia, Long clavicles, Ventricular septal defect, Di... OMIM:608149
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplastic ilia, Cryptorchidism, Pa... ORPHA:85201
Emanuel Syndrome
Congenital hip dislocation, Multiple joint contractures, Congenital diaphragmatic hernia, Microgn... ORPHA:96170
Verheij Syndrome
Vertebral fusion, Ventricular septal defect, Truncus arteriosus, Short neck, Hip dislocation, Hem... OMIM:615583
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Camptodactyly of finger, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Mi... ORPHA:2863
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion ... OMIM:224690
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypo... ORPHA:1335
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Genu valgum, Tetralogy of Fallot, Anal atresia ORPHA:1381
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... OMIM:601355
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lun... ORPHA:1120
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Central Y-shaped... OMIM:277170
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp... ORPHA:2484
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis... OMIM:184260
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Short neck, Asplenia, Micrognathia, Hemivertebrae, Abnormal lung... ORPHA:99776
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, P... OMIM:269860
Esophageal Atresia
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Laryngotracheomalacia, Gastroesophag... ORPHA:1199
Thanatophoric Dysplasia
Atrial septal defect, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus,... ORPHA:2655
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... ORPHA:1923
Mosaic Trisomy 8
Decreased testicular size, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Pat... ORPHA:96061
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... ORPHA:2008
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Missing ribs, Duodenal stenosis, A... ORPHA:1759
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Beaded ribs, Cardiomegaly, Short neck, Micrognathia, Flexion contracture, Micropenis, Hypospadias... OMIM:616897
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Vascular ring, Kn... OMIM:603387
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pect... ORPHA:1388
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to thrive ORPHA:172
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ... ORPHA:1597
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... ORPHA:166016
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia... ORPHA:77298
Fryns Syndrome
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal aortic arch morphology, High ... ORPHA:2059
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia OMIM:619083
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Micromelia, Short neck, Abnormal femur morphology, Narrow chest, Hernia, Atria... ORPHA:1842
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... OMIM:615524
Marden-Walker Syndrome
Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, Zollinger-Ellison syn... OMIM:248700
Phocomelia, Schinzel Type
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo... ORPHA:2879
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Congenital Tracheomalacia
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Broncho... ORPHA:95430
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,... OMIM:613390
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... ORPHA:1326
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Cleft ... ORPHA:2756
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring... OMIM:601927
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, Patent ur... OMIM:192350
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic a... ORPHA:314588
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... OMIM:613686
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Kyphosis, Flexion contrac... OMIM:618658
Atelosteogenesis Type I
Joint dislocation, Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Rhi... ORPHA:1190
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Absent thumb, Microg... OMIM:617516
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Talipes, Unilateral renal agenesis, Patent ductus arteriosus, Chron... OMIM:617661
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Vesico... ORPHA:2745
Mosaic Trisomy 16
Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ... ORPHA:1708
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Abnormal thorax morphology, Abnormal sacrum mor... ORPHA:2591
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bones of the u... ORPHA:371428
Mosaic Trisomy 1
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Renal cyst,... ORPHA:1692
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary a... OMIM:601186
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Micrognathia, Pectus excavatum, Cryptorchidism, ... OMIM:179613
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Irregular pa... OMIM:609325
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... OMIM:616300
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis OMIM:615872
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, M... OMIM:617895
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Cardiac-Urogenital Syndrome
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... OMIM:618280
Mckusick-Kaufman Syndrome
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... ORPHA:2473
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Atrial sep... ORPHA:84
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Pseudodiastrophic Dysplasia
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino... ORPHA:85174
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia... ORPHA:2092
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Omphalocele, Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Ren... OMIM:601389
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... ORPHA:56305
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
C Syndrome
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Ventricular se... OMIM:211750
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... ORPHA:2847
Intellectual Developmental Disorder, Autosomal Recessive 73
Pes planus, Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus,... OMIM:619717
Penoscrotal Transposition
Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition, Patellar aplasi... ORPHA:2842
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... ORPHA:860
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... OMIM:616531
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... ORPHA:3041
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Anal atresia, Abnormal femur morphology, Lower limb undergrowth ORPHA:2310
Kuskokwim Syndrome
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Abnormal form of the ve... ORPHA:1149
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular... OMIM:264480
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re... OMIM:134780
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... OMIM:612649
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Scholte Syndrome
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia,... OMIM:300977
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Schisis Association
Omphalocele, Spina bifida, Micromelia, Congenital diaphragmatic hernia, Tracheoesophageal fistula... ORPHA:63862
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... OMIM:276820
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Micrognath... OMIM:263210
Trisomy 1Q
Microretrognathia, Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cam... ORPHA:261344
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Asplenia, Abnormal lung lobation, Femoral bowing, Hypertrophic cardiomyop... OMIM:615415
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, High... OMIM:121050
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... OMIM:605274
Dextrocardia
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... ORPHA:1666
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Pter... ORPHA:1865
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Anal atresia ORPHA:3469
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... ORPHA:56304
Acces Syndrome
Recurrent respiratory infections, Supernumerary nipple, Hip dislocation, Tracheoesophageal fistul... OMIM:619959
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ... ORPHA:2257
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
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
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac... ORPHA:261330
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Single transverse palmar crease, Short neck, Cryptorchidism, Patent duct... ORPHA:495818
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot ORPHA:3033
Meier-Gorlin Syndrome 3
Micrognathia, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux, Narrow chest, Micropenis, ... OMIM:613803
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Genitopatellar Syndrome
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Atria... OMIM:606170
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... OMIM:609441
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate OMIM:611867
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragma... ORPHA:261197
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... OMIM:617063
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Hypopla... OMIM:235510
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Foot oligodactyly, S... OMIM:601357
Cat-Eye Syndrome (Type I)
Anal atresia, Abnormal heart morphology DECIPHER:42
Prune Belly Syndrome
Hydroureter, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Xerostomia, ... OMIM:100100
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Charge Syndrome
Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat... OMIM:214800
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, 2-3 toe cu... OMIM:609625
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach morphology, Ascending a... ORPHA:141127
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... OMIM:263520
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Feingold Syndrome Type 1
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... ORPHA:391641
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Pes planus, Patent ductus arteriosus, Absent Achilles reflex, Weak grip, Distal upper limb muscle... OMIM:619519
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoeso... ORPHA:1780
17Q23.1Q23.2 Microdeletion Syndrome
Long toe, Atrial septal defect, Sacral dimple, Pes planus, Sandal gap, Long fingers, Patent ductu... ORPHA:261279
Chromosome 9P Deletion Syndrome
Short neck, Micrognathia, High, narrow palate, High palate, Atrial septal defect, Micropenis, Lon... OMIM:158170
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hypospadias, Cryptorchid... OMIM:301056
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... ORPHA:1461
Double Outlet Right Ventricle
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... ORPHA:3426
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus ca... ORPHA:3068
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus, Shoulder dislocation... ORPHA:98892
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... OMIM:619657
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, High palate, Atrial septal ... OMIM:612946
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis OMIM:610852
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambiguous, Productive co... ORPHA:244
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Patent ductus arte... OMIM:277380
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Congenital alveolar dysplasia, Apl... OMIM:608978
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... OMIM:222600
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tracheal calcification, Gastroesophageal reflux, Cervical cord compression, At... ORPHA:79345
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of th... ORPHA:2990
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Arthritis, Abnormal cardiac... ORPHA:1937
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atria... OMIM:618870
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ... OMIM:300845
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Tetralo... ORPHA:1166
Distal Duplication 15Q
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidis... ORPHA:1707
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Gastroesophageal reflux, Atrial septal d... OMIM:600373
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... OMIM:615994
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Short neck, Micrognathia, Vertebral segmentatio... OMIM:608022
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, E... ORPHA:2345
White Forelock With Malformations
Atrial septal defect, Bronchomalacia, Prominent veins on trunk, Aplasia/Hypoplasia of the distal ... OMIM:277740
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Vesicoureteral reflux,... OMIM:616894
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft... OMIM:192430
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, G... OMIM:616145
Alg3-Cdg
Abnormality of the gastrointestinal tract, Lipodystrophy, Metaphyseal chondrodysplasia, Abnormal ... ORPHA:79321
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Micrognathia, Esophageal at... ORPHA:3412
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Tracheo... ORPHA:268249
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thoracic kyphosis, Short pal... ORPHA:508498
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro... OMIM:617468
Trisomy 13
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Abnorm... ORPHA:3378
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Bila... OMIM:180849
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Epiphys... ORPHA:1952
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... OMIM:300991
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Anal atresia OMIM:246000
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia OMIM:616726
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... OMIM:600001
Acalvaria
Omphalocele, Spina bifida, Postaxial hand polydactyly, Abnormal lung lobation, Cleft palate ORPHA:945
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Bronchiectasis, Chronic rhinitis OMIM:618801
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly ORPHA:2935
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arterios... OMIM:313850
3C Syndrome
Hypoplasia of penis, High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal r... ORPHA:7
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Pate... OMIM:618961
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Single transverse pa... ORPHA:508488
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Rhombencephalosynapsis
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... ORPHA:59315
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, H... OMIM:232700
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno... OMIM:617478
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Muscular ventricular septal defe... OMIM:619227
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... ORPHA:1225
3Mc Syndrome 1
Omphalocele, Atrial septal defect, Sacral dimple, Ventricular septal defect, Single interphalange... OMIM:257920
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... OMIM:218600
Tarp Syndrome
Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial... ORPHA:2886
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:601163
Ulbright-Hodes Syndrome
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... ORPHA:3404
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Anus, Imperforate
Ectopic anus, Hypospadias, Anal atresia OMIM:301800
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, High palate, T... ORPHA:261120
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophageal reflux, Cervi... ORPHA:353281
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short neck, Missing ribs, Coronal hypospadias, Esophageal atresia, Bilateral cryptorchidism, Trac... OMIM:619859
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Me... ORPHA:536471
Feingold Syndrome 1
Micrognathia, Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Patent ductus arte... OMIM:164280
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Ab... ORPHA:96334
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Wormian bones, Ventricular septal defect, Tapered finger, Cryptorchidism, Pa... OMIM:617159
Tonne-Kalscheuer Syndrome
Decreased testicular size, Pes planus, Hypospadias, Congenital diaphragmatic hernia, Micrognathia... OMIM:300978
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Microgloss... OMIM:241800
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... OMIM:304120
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphol... ORPHA:567
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Abnormal clavicle morphology, Hypoplasia of penis, Ventricular... ORPHA:3138
Pentasomy X
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Radiouln... ORPHA:11
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Cantu Syndrome
Ovoid vertebral bodies, Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomega... OMIM:239850
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislocation, Ante... ORPHA:536467
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... OMIM:242670
Ritscher-Schinzel Syndrome 2
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... OMIM:300963
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Single transverse palmar crease, Micrognathia, Cryptorchidism, Patent ductus ar... ORPHA:3304
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Osteopenia, Hypocholesterolemia OMIM:610539
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology, Hydronephrosis, Anal atresia ORPHA:195
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...