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
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
increased lean body mass Pcsk5tm1b(KOMP)Mbp HET Early adult 8.92×10-06
hemorrhage Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
increased heart weight Pcsk5tm1b(KOMP)Mbp HET Early adult 3.14×10-06
abnormal facial morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal tail morphology Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
decreased circulating cholesterol level Pcsk5tm1b(KOMP)Mbp HET Early adult 7.64×10-06
preweaning lethality, complete penetrance Pcsk5tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal limb morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
cleft palate Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
hyperactivity Pcsk5tm1b(KOMP)Mbp HET Early adult 1.81×10-05
increased bone mineral content Pcsk5tm1b(KOMP)Mbp HET Early adult 2.15×10-05
increased fasting circulating glucose level Pcsk5tm1b(KOMP)Mbp HET   Early adult 7.79×10-05
abnormal tail morphology Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
hemorrhage Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal body wall morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal neural tube closure Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
abnormal tail morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
decreased circulating HDL cholesterol level Pcsk5tm1b(KOMP)Mbp HET Early adult 6.97×10-06
abnormal limb morphology Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
decreased circulating calcium level Pcsk5tm1b(KOMP)Mbp HET Early adult 5.98×10-05
abnormal limb bud morphology Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
embryonic growth retardation Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 0.77% (4 of 517)
aorta 0.19% (1 of 522)
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
epididymis 12.39% (14 of 113)
esophagus 1.41% (5 of 354)
eye 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.2% (1 of 512)
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
submandibular gland 0.85% (1 of 117)
testis 0.98% (5 of 511)
thalamus 0.0%
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 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)
brain 1.5% (6 of 400)
dorsal root ganglion 2.13% (1 of 47)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
fronto-nasal process 2.17% (1 of 46)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
nose 1.56% (1 of 64)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
spinal cord 1.79% (1 of 56)
tail 0.0%
tail somite group 0.25% (1 of 401)

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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Section

29 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Morphology Embryo E12.5

Images

4 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

2 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
Recurrent pneumonia, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Chronic rhinitis, De... OMIM:611884
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... OMIM:618300
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Cough, Dextrocardia, Bronchiectasis, Double outlet right ventricle,... OMIM:618254
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:615482
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs ... OMIM:605376
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Dextrocardia, ... OMIM:615067
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:615451
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation, Scoliosis, Tibial... ORPHA:3320
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Abnormal ciliary mo... OMIM:614017
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:614874
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Congenital malformation of the great arteries, Abnormal... ORPHA:294975
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Decreased nasal nitric oxide, Situs... OMIM:615504
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Asthma, Dextrocardia, Situs inversu... OMIM:616037
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Cough... OMIM:614679
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Decreased nasal nitric oxide, Situs... OMIM:615505
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Recombinant 8 Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Micrognathia, Scoliosis, Ventricular septal defec... ORPHA:96167
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis OMIM:613193
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Decreased nasal nit... OMIM:615500
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Anemia, Patellar dis... OMIM:274000
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic sinusitis, Situs inversus totalis, Ciliary dyskinesia OMIM:612518
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Absent radius, Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal ... OMIM:314390
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs inversus totalis, Bronchi... OMIM:612444
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Otopalatodigital Syndrome Type 2
Carpal synostosis, Hydronephrosis, Short thumb, Micrognathia, Abnormal rib morphology, Scoliosis,... ORPHA:90652
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Decreased nasal nit... OMIM:615444
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:606763
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Heterotaxy, Cough, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasi... OMIM:613807
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Spina bifida, Short tibia, Short toe, Abnorma... ORPHA:93323
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Tracheomalacia, Fibular hypoplasia, Clinodactyly of the 5th finger, Micrognathia, Mu... OMIM:300373
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ectopic kidney, Long philtrum, Atrial septal defect, Cryptorchidism, Dislocated ra... ORPHA:401935
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Hydronephrosis, Micrognathia, Abnormal rib morphology, Anorectal anomaly, Scoliosis... ORPHA:1834
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Czeizel-Losonci Syndrome
Hydronephrosis, Dextrocardia, Micrognathia, Spina bifida, 2-3 finger syndactyly, High palate, Sin... ORPHA:2437
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Broad hallux, Coarctation of aorta, Bicuspid aortic... OMIM:612474
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Nail-Patella Syndrome
Proteinuria, Pes planus, Clinodactyly of the 5th finger, Abnormal patella morphology, Patellar di... ORPHA:2614
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Situs inversus tota... OMIM:614935
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Short neck, Long philtrum, Overlapping fingers... OMIM:617022
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Cryptorchidism, Micrognathia, Inguinal hernia, Scoliosis, Dysplastic patella, Camp... OMIM:265000
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Vacterl/Vater Association
Cryptorchidism, Hydronephrosis, Abnormal rib morphology, Anorectal anomaly, Multicystic kidney dy... ORPHA:887
Emanuel Syndrome
Long philtrum, Cryptorchidism, Micrognathia, Inguinal hernia, Scoliosis, Ventricular septal defec... OMIM:609029
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Catel-Manzke Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Dextrocardia, Micrognathia, Inguinal hernia, Vent... OMIM:616145
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Cough, Dextrocardia, Situs inversus totalis, Abdominal situs invers... OMIM:619607
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Short neck, Micrognathia, High, narrow palate, Short distal phalanx of fi... ORPHA:2516
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Vertebral segmentation defect, Sacral dimple, Short thorax, Patent duc... OMIM:618845
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Abnormal lung lobation, Hemivertebrae,... ORPHA:958
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:608647
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Cousin Syndrome
Hydronephrosis, Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Cleft palat... OMIM:260660
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, High palate, Wormian bones, Broad alveolar ridges, Delayed eruption of teeth, Pate... ORPHA:2863
Prune Belly Syndrome
Cryptorchidism, Abnormal rib morphology, Multicystic kidney dysplasia, Scoliosis, Ventricular sep... ORPHA:2970
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Short neck, Abnormality of epiphysis morphology, Rhizom... ORPHA:93267
Fetal Encasement Syndrome
Tetralogy of Fallot, Bilateral trilobed lungs, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihy... OMIM:613630
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia o... ORPHA:1263
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Ventricular septal defect, Truncus arterios... OMIM:228940
Fanconi Anemia, Complementation Group B
Absent thumb, Bilateral radial aplasia, Short neck, Patent ductus arteriosus, Micropenis, Tracheo... OMIM:300514
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Right aortic ... OMIM:617577
Genitopalatocardiac Syndrome
Renal cyst, Cleft upper lip, Hypospadias, Double outlet right ventricle, Right aortic arch, Ventr... OMIM:231060
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Adams-Oliver Syndrome 6
Brachydactyly, Renal hypoplasia, Esophageal varix, Foot oligodactyly, Ventricular septal defect, ... OMIM:616589
Thymic Aplasia With Fetal Death
Ureteral agenesis, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Ciliary Dyskinesia, Primary, 38
Cough, Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinitis, Neonatal respiratory distr... OMIM:618063
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Cryptorchidism, Hydronephrosis, Clinodactyly of the 5t... OMIM:201000
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... OMIM:618316
Poland Syndrome
Short ribs, Unilateral brachydactyly, Dextrocardia, Sprengel anomaly, Hypoplasia of deltoid muscl... OMIM:173800
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Cryptorchidism, 11 pairs of ribs, Thoraci... OMIM:108720
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... ORPHA:1354
Emanuel Syndrome
Unilateral renal agenesis, Bifid uvula, Long philtrum, Cryptorchidism, Micrognathia, Inguinal her... ORPHA:96170
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Immotile cilia, Ciliary dyskinesia, Bronchiectasis OMIM:616481
Genitopatellar Syndrome
Hypoplastic ischia, Short palm, Long philtrum, Delayed eruption of teeth, Atrial septal defect, H... ORPHA:85201
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Cough, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Rhinorrhe... OMIM:613808
Nail-Patella Syndrome
Quadriceps aplasia, Absent distal interphalangeal creases, Proteinuria, Pes planus, Clinodactyly ... OMIM:161200
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Missing ribs, Atrial septal defect, Hydronephrosis, Hemivertebrae, Double ou... OMIM:220210
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Atrial septal defect, Tracheoesophageal fistula, Abnormal vert... ORPHA:261272
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia DECIPHER:16
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Micrognathia, Hypoplastic left heart... OMIM:265380
Kagami-Ogata Syndrome
Coxa valga, Flexion contracture, Patent ductus arteriosus, Diastasis recti, Atrial septal defect,... OMIM:608149
Pentalogy Of Cantrell
Tetralogy of Fallot, Absent gallbladder, Talipes, Abnormal pericardium morphology, Non-midline cl... ORPHA:1335
Meier-Gorlin Syndrome 1
Genu varum, Absent sternal ossification, Cryptorchidism, Clinodactyly of the 5th finger, Microdon... OMIM:224690
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger... OMIM:228520
Congenital Contractural Arachnodactyly
High palate, Flexion contracture, Intestinal malrotation, Congenital kyphoscoliosis, Tracheoesoph... ORPHA:115
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies, Tracheoesophageal ... ORPHA:93941
Li-Campeau Syndrome
Single transverse palmar crease, Patent foramen ovale, Patent ductus arteriosus, Patellar hypopla... OMIM:619189
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Hernia, Dextrocardia, Double outlet right ventric... ORPHA:185
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Multicystic kidney dysplasia, Esophagitis, Abnormal lung lobation, Abnormality of th... ORPHA:2538
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Short distal phalanx of finger, Ventricular septal defect, Truncus art... OMIM:601355
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatom... OMIM:612526
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Intestinal malrotation, Abnormality of fibula morphology, Tibial bowing... ORPHA:3035
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Polycys... OMIM:184260
Melnick-Needles Syndrome
Hydronephrosis, Micrognathia, Abnormal rib morphology, Scoliosis, Narrow chest, Hip dislocation, ... ORPHA:2484
Fryns Syndrome
Long philtrum, Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th finger, Tented upper lip v... ORPHA:2059
Intellectual Developmental Disorder, Autosomal Recessive 73
Single transverse palmar crease, Drooling, Patent ductus arteriosus, Pes planus, Clinodactyly of ... OMIM:619717
Fanconi Anemia, Complementation Group O
Absent thumb, Renal cyst, Hydronephrosis, Hypoplasia of the radius, Short thumb, Anal atresia, Ab... OMIM:613390
Distal Monosomy 17Q
Narrow mouth, Abnormal hip bone morphology, Abnormal thumb morphology, Upper limb asymmetry, Abno... ORPHA:1597
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Hypoplasia of penis, Anal atresia, Genu valgum, Hypospadias ORPHA:1381
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Hydronep... ORPHA:210122
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Abnormality of the dentition, Atrial septal defect... OMIM:179613
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Brachydactyly, Polydactyly OMIM:617405
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Short thumb, Abnormal aortic valve morphology, Abnormal rib morphology... ORPHA:1120
Esophageal Atresia
Clinodactyly, Gastrointestinal dysmotility, Excessive salivation, Anorectal anomaly, Scoliosis, V... ORPHA:1199
Phocomelia, Schinzel Type
Talipes, Cryptorchidism, Micrognathia, High, narrow palate, Micromelia, Aplasia of the ulna, Clef... ORPHA:2879
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Hydronephrosis, Dextrocardia, Micrognathia, Micromeli... ORPHA:99776
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Holt-Oram Syndrome
Abnormal rib morphology, Hypoplastic left heart, Scoliosis, Ventricular septal defect, Atrioventr... ORPHA:392
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Atrial septal defect, Knee flexion contracture, Vascular ring, Vent... OMIM:603387
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Patent ductus arteriosus, Fibular hypoplasia, Radial club h... ORPHA:1972
Prune Belly Syndrome
Hydroureter, Patent ductus arteriosus, Hydronephrosis, Congenital hip dislocation, Anal atresia, ... OMIM:100100
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Kyphosis, Short thorax, Patent ductus arteriosus, Atria... ORPHA:2655
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Cystic renal dysplasia, Broad palm, Hamartoma of tongue, Inguinal hernia, Ventri... OMIM:269860
Thoraco-Abdominal Enteric Duplication
Missing ribs, Abnormal tricuspid valve morphology, Intestinal malrotation, Dextrocardia, Duodenal... ORPHA:1759
Mosaic Trisomy 8
High palate, Short neck, Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th finger, Narrow c... ORPHA:96061
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacit... OMIM:619436
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Marden-Walker Syndrome
Long philtrum, Cryptorchidism, Dextrocardia, Micrognathia, High, narrow palate, Inguinal hernia, ... OMIM:248700
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Missing ribs, Myelomeningocele, Short thorax, Dextrocardia, Situs inversus total... OMIM:613686
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Hand clenching, Ventricular septal d... ORPHA:1692
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide OMIM:615872
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Talipes, Hernia, Micromelia, Anemia, Narrow chest, Short neck, Patent ... ORPHA:1842
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Sho... ORPHA:2756
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Block vertebrae, Total anomalous pulmonary venous return, Dextrocardia,... OMIM:306955
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs inversus totalis, Pul... OMIM:615415
Pallister-Hall-Like Syndrome
Median cleft lip, Micropenis, Short ribs, Anterior hypopituitarism, Micrognathia, Micromelia, Abn... OMIM:241800
Acrocardiofacial Syndrome
Toe syndactyly, Tetralogy of Fallot, Foot polydactyly, Finger syndactyly, Atrial septal defect, H... ORPHA:2008
Methimazole Embryofetopathy
Tracheoesophageal fistula, Esophageal atresia, Coarctation of aorta, Ventricular septal defect, A... ORPHA:1923
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly, Hepatomegaly, Failure to thrive, Reduced bone mineral density ORPHA:172
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Atrial septal defect, Omphalocele, Vascular ring, Ven... OMIM:601927
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Decreased fibular diameter, Micrognathia, Ventricular septal defect, Cardiomegaly... OMIM:616897
Meier-Gorlin Syndrome 7
Cryptorchidism, Scoliosis, Duodenal stenosis, Ventricular septal defect, Aplasia/Hypoplasia of th... OMIM:617063
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Cryptorchidism, 11 pairs of ribs, Tracheoesophageal fistula, Hypoplasia... ORPHA:77298
Opitz Gbbb Syndrome
Tracheomalacia, Long philtrum, Cryptorchidism, Hydronephrosis, Micrognathia, Inguinal hernia, Ven... ORPHA:2745
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Long philtrum, Short ribs, Lateral clavicle hook, Hypoplasia of t... OMIM:617895
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Short neck, Phocomelia, Short sternum, Cryptorchidism, Renal hypoplasi... OMIM:266910
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Focal Dermal Hypoplasia
Upper limb asymmetry, Diastasis recti, Hernia, Open bite, Hydronephrosis, Multicystic kidney dysp... ORPHA:2092
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula, Ventricular septal defect, Hip dislocation OMIM:619083
C Syndrome
Clinodactyly, Renal cortical cysts, Cryptorchidism, Micrognathia, Micromelia, Scoliosis, Ventricu... OMIM:211750
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Narrow mouth, Cryptorchidism, Micrognathia, Anisospondyly, Abnormality ... OMIM:224410
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Acromesomelia, Everted lower lip vermilion, Pes cavus, Short toe, Lumbar kyphosis in infancy, Thi... ORPHA:3041
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Fibular hypoplasia, Cryptorchidism, Mesomelic leg shorte... OMIM:609945
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Infantile Myofibromatosis
Abnormal sacrum morphology, Gingival fibromatosis, Tracheoesophageal fistula, Abnormal thorax mor... ORPHA:2591
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Cleft palate, Smooth philtrum, Truncus arteriosus OMIM:611867
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Cryptorchidism, Hydronephrosis, Rectal prolapse, Thyroid lymphangiec... OMIM:235510
Scholte Syndrome
Acromicria, Patellar hypoplasia, Micropenis, Everted lower lip vermilion, Reduced subcutaneous ad... OMIM:300977
Femoral-Facial Syndrome
Missing ribs, Long philtrum, Cryptorchidism, Micrognathia, Polycystic kidney dysplasia, Inguinal ... OMIM:134780
Congenital Tracheomalacia
Tetralogy of Fallot, Tracheomalacia, Patent ductus arteriosus, Atrial septal defect, Gastroesopha... ORPHA:95430
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Cleft palate, Brachydactyly, Flat capit... OMIM:601560
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Camptodactyly Syndrome, Guadalajara Type 2
Patellar hypoplasia, Short 3rd toe, Short 5th toe, Pectus excavatum, Talipes equinovarus, Cuboid-... ORPHA:1326
Atelosteogenesis Type I
Coronal cleft vertebrae, Micrognathia, Scoliosis, Narrow chest, Cleft palate, Brachydactyly, Join... ORPHA:1190
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Short toe, Umbilical h... OMIM:615297
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Horseshoe kidney, Patent ductus arteriosus, A... OMIM:601186
Chromosome 15Q25 Deletion Syndrome
Short neck, Cleft upper lip, Cryptorchidism, Tented upper lip vermilion, Dextrocardia, Congenital... OMIM:614294
Mosaic Trisomy 16
Clinodactyly, Single coronary artery origin, Short thumb, Abnormal thorax morphology, Short forea... ORPHA:1708
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Fibular hypoplasia, Esophageal diverticulum, Micrognathia, Hamartoma of tongue, ... OMIM:617925
Robinow Syndrome, Autosomal Dominant 3
Clinodactyly, Long philtrum, Hypoplastic right heart, Cryptorchidism, Micrognathia, Scoliosis, Ve... OMIM:616894
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology ORPHA:85203
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Cleft upper lip, 2-3 toe syndactyly, Tricuspid atresia, P... OMIM:264480
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Short 1st metacarpal, Hypoplasia of deltoi... OMIM:147750
Schisis Association
Unilateral cleft lip, Tracheoesophageal fistula, Anal atresia, Congenital diaphragmatic hernia, O... ORPHA:63862
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Partial atrioventricular canal defect, ... ORPHA:1330
9Q33.3Q34.11 Microdeletion Syndrome
Narrow mouth, Short neck, Patellar hypoplasia, Patent ductus arteriosus, Prominent metopic ridge,... ORPHA:495818
Trisomy 1Q
Narrow mouth, Toe syndactyly, Long foot, Short thorax, Patent ductus arteriosus, Cryptorchidism, ... ORPHA:261344
Meier-Gorlin Syndrome 3
Genu varum, Absent sternal ossification, Tracheomalacia, Cryptorchidism, Micrognathia, Narrow che... OMIM:613803
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Intestinal malrotation, Micrognathia, Omphalocele, Lower... OMIM:236640
Distal Tetrasomy 15Q
High palate, Craniosynostosis, Horseshoe kidney, Kyphosis, Patent ductus arteriosus, Hernia, Atri... ORPHA:314588
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone a... OMIM:276820
Vater/Vacterl Association
Hydronephrosis, Short thumb, Patent urachus, Abnormal rib morphology, Scoliosis, Spina bifida, Ve... OMIM:192350
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Lumb... OMIM:609325
Thakker-Donnai Syndrome
Narrow mouth, Cervical C2/C3 vertebral fusion, Tetralogy of Fallot, Rectovaginal fistula, Hydrone... ORPHA:1780
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Cryptorchidism, Squared iliac bones, Narrow chest, Cleft palate, Patent ductus a... OMIM:616300
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarcta... OMIM:618164
Fanconi Anemia
Abnormal thumb morphology, Abnormality of the ulna, Cryptorchidism, Clinodactyly of the 5th finge... ORPHA:84
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Dextrocardia With Unusual Facies And Microphthalmia
Supernumerary ribs, Dextrocardia, Micrognathia, Vertebral fusion, Vertebral segmentation defect, ... OMIM:221950
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Carpal osteolysis, Double outlet right ventricle, Ventricular septal defect, Broad cla... ORPHA:371428
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Platyspondyly, Omphalocele, Scoliosis, Talipes equinovarus, Phalan... ORPHA:85174
Stuve-Wiedemann Syndrome 1
Talipes, Smooth tongue, Micrognathia, Scoliosis, Short tibia, Dysphagia, Bowing of the long bones... OMIM:601559
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... ORPHA:56304
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Morphological abnormality of the gastrointestinal tract, Patent ductus arter... ORPHA:2847
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Short neck, Flexion contracture, Micrognathia, Polycystic kidney dysplasi... OMIM:263210
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Lower limb undergrowth, Anal atresia, Abnormality of epiphysis m... ORPHA:2310
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Micrognathia,... ORPHA:56305
17Q23.1Q23.2 Microdeletion Syndrome
Coxa magna, Narrow mouth, Shallow acetabular fossae, Patellar hypoplasia, Patent ductus arteriosu... ORPHA:261279
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Cervical ribs, Prune belly, Renal hypoplasia, Autoimmune thrombocytopenia, Thoracolumbar scoliosi... OMIM:601389
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Distal Trisomy 15Q
High palate, Short neck, Long philtrum, Cryptorchidism, Micrognathia, Anal atresia, Arachnodactyl... ORPHA:1707
14Q11.2 Microdeletion Syndrome
Narrow mouth, Toe syndactyly, High palate, Toe clinodactyly, Long philtrum, Patent ductus arterio... ORPHA:261120
Penoscrotal Transposition
Abnormality of the ureter, Bilateral single transverse palmar creases, Clinodactyly of the 5th fi... ORPHA:2842
Kuskokwim Syndrome
Talipes, Abnormal form of the vertebral bodies, Abnormal clavicle morphology, Scoliosis, Aplasia/... ORPHA:1149
Mckusick-Kaufman Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplastic left heart, Ventricular septal defect, ... ORPHA:2473
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Hypop... ORPHA:85166
Chromosome 9P Deletion Syndrome
Narrow mouth, High palate, Short neck, Long philtrum, Patent ductus arteriosus, Atrial septal def... OMIM:158170
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, High palate, Bifid uvula, Kyphosis, F... OMIM:618658
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Distal 22Q11.2 Microdeletion Syndrome
Pes planus, Sandal gap, Clinodactyly of the 5th finger, High, narrow palate, Inguinal hernia, Ven... ORPHA:261330
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Short 5th metacarpal, Patent ductus arteriosus, Pseudocoarctation of the aorta, Clinodactyly of t... ORPHA:228190
Dextrocardia
Abnormality of the ureter, Abnormal foot morphology, Pancreatic hypoplasia, Congenital hip disloc... ORPHA:1666
Opitz gbbb syndrome, type II
Bifid uvula, Diastasis recti, Cryptorchidism, Micrognathia, Inguinal hernia, Ventricular septal d... OMIM:145410
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Tetralogy of Fallot, Cryptorchidism, Tooth agenesis, Micrognathia, ... ORPHA:1166
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesi... OMIM:612649
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Hypoxemia, Patent ductus ar... ORPHA:860
Trisomy 13
Long philtrum, Hernia, Cryptorchidism, Hydronephrosis, Abnormal rib morphology, High, narrow pala... ORPHA:3378
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Long philtrum, Fibular hypoplasia... OMIM:114290
Achondrogenesis Type 2
Pierre-Robin sequence, Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ... ORPHA:93296
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Dislocated radial head, Abnormal foot morphology, Abn... OMIM:605274
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Scoliosis, Cleft pala... OMIM:311300
Cantu Syndrome
Long philtrum, Broad first metatarsal, Metaphyseal widening, Narrow chest, Cardiomegaly, Short ne... OMIM:239850
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Overlapping fingers, Externally rotated hips, Micrognathia, Knee flexion contracture, Unilateral ... OMIM:616531
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Abnormal palate morphology, Clinodactyly of the 5th finger, Tracheo... ORPHA:3068
3C Syndrome
Abnormal hip bone morphology, Missing ribs, Abnormal mitral valve morphology, Hydronephrosis, Mic... ORPHA:7
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Omphalocele, Foot oligodactyly, Scoliosis, Bilateral cleft lip and palate, Ventr... OMIM:601357
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Micrognathia, Patellar dislocation, Scoliosis, Ventricular septal defect, ... OMIM:121050
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Hamartoma of tongue, Polycystic kidney dysplasia, Ventricular septal defect, Pol... OMIM:263520
Autosomal Recessive Multiple Pterygium Syndrome
Pterygium, Long philtrum, Cryptorchidism, Abnormal aortic valve morphology, Micrognathia, Abnorma... ORPHA:2990
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Fibular hypoplasia, Broad pa... ORPHA:79106
Charge Syndrome
Radial head subluxation, Cryptorchidism, Dysplastic tricuspid valve, Hydronephrosis, Short thumb,... OMIM:214800
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Intestinal malrotation, Double outlet right ventricle, Pulmoni... ORPHA:3426
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Fibular hypoplasia, Scoliosis, Short tibia, Short toe, Abnormal... OMIM:127300
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis OMIM:616726
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the philtrum, Abnormal rib morp... ORPHA:3268
Codas Syndrome
Pes valgus, Coronal cleft vertebrae, Delayed ossification of carpal bones, Cryptorchidism, Square... OMIM:600373
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... ORPHA:79345
Feingold Syndrome Type 1
Tricuspid atresia, Clinodactyly of the 5th finger, Hydronephrosis, Short thumb, Short middle phal... ORPHA:391641
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Abnormality... ORPHA:141127
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Brachydactyly, Short 5th metacarpal, Patent ductus arteriosus, Pseudocoarctation of the aorta, Cl... OMIM:604381
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Hydronephrosis, Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Cl... OMIM:304120
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Tetralogy of Fallot, Hypoplasia of the ulna, Absent radius, Atrial septal defect, Clinodactyly of... OMIM:600123
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Syringomyelia, Atrial septal defect, Gastroesophageal reflux, Dextrocardia, Abn... ORPHA:261197
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia, Abnormal morphology of the radius ORPHA:3469
Velocardiofacial Syndrome
Pierre-Robin sequence, Tetralogy of Fallot, Velopharyngeal insufficiency, Open mouth, Unilateral ... OMIM:192430
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Long philtrum, Pes planus, Micromelia, Scoliosis, Ventricular septal def... OMIM:618870
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Pes planus, Micrognathia, Inguinal hernia, Scol... OMIM:618363
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beati... OMIM:617091
Periventricular Nodular Heterotopia
Shoulder dislocation, Abnormal heart valve morphology, Patent ductus arteriosus, Hernia, Gastroes... ORPHA:98892
Eng-Strom Syndrome
Brachydactyly, Pectus excavatum, Scoliosis, Ventricular septal defect, Camptodactyly of finger, A... ORPHA:1937
Cat-Eye Syndrome (Type I)
Abnormal heart morphology, Anal atresia DECIPHER:42
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Recurrent respiratory infections OMIM:617744
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of the intrinsic hand muscles, Patent ductus arteriosus, Pes planus, Distal upper limb m... OMIM:619519
Fryns-Smeets-Thiry Syndrome
Short philtrum, Thick lower lip vermilion, Everted lower lip vermilion, Micrognathia, Arachnodact... ORPHA:2058
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Long philtrum, Duplication of phalanx of hand, Pes planus, Clinodactyly of ... ORPHA:508498
3Mc Syndrome 1
Hydronephrosis, Clinodactyly of the 5th finger, Ventricular septal defect, Cleft palate, Cleft up... OMIM:257920
Bardet-Biedl Syndrome 17
Brachydactyly, Renal cyst, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot ... OMIM:615994
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Pulmonary hypoplasia, Multiple renal cysts ORPHA:3033
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Ulbright-Hodes Syndrome
Abnormal penis morphology, Cryptorchidism, Micrognathia, Polycystic kidney dysplasia, Abnormal ri... ORPHA:3404
Congenital Disorder Of Glycosylation, Type Ig
Short philtrum, Patent foramen ovale, Patent ductus arteriosus, Cryptorchidism, Micropenis, Sanda... OMIM:607143
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Situs inversus tota... ORPHA:244
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Hydronephrosis, Double outlet right ventricle, Metopic synostosis, Ventricular se... OMIM:301056
Triploidy
Narrow mouth, Finger syndactyly, Short neck, Non-midline cleft lip, Cryptorchidism, Intestinal ma... ORPHA:3376
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Distal arthrogryposis, Internally rotated shoulders, Elbow flexion contracture, Flex... OMIM:617468
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress OMIM:300991
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Protruding tongue, Patent ductus arteriosus, Atrial septal defect, ... OMIM:300963
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Short neck, Patellar hypoplasia, Single transverse palmar crease, Long philtrum, S... OMIM:211920
Tonne-Kalscheuer Syndrome
Brachydactyly, Narrow mouth, Velopharyngeal insufficiency, Cryptorchidism, Micropenis, Pes planus... OMIM:300978
Stankiewicz-Isidor Syndrome
Absent thumb, Pineal cyst, 2-3 toe syndactyly, Patent ductus arteriosus, Ureteral duplication, Cr... OMIM:617516
Meacham Syndrome
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Bicusp... OMIM:608978
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, High palate, Solitary median maxillary central incisor, Patent ductus arteriosus,... OMIM:619657
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Hepatoblastoma, Long philtrum, Diastasis recti, Cry... ORPHA:96334
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Cleft upper lip, Thin ribs, Joint dislocation, Micrognathia, Abnormal cervic... OMIM:312150
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Foot polydactyly, Short palm, Tracheomalacia, Tracheoesophageal fistula, Coarctat... ORPHA:268249
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis, Short palm, Diastasis recti, Long philtrum, Elevated circulating lutei... OMIM:618419
Thoracoabdominal Syndrome
Ventral hernia, Cleft upper lip, Patent ductus arteriosus, Ectopia cordis, Hypospadias, Congenita... OMIM:313850
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Patent ductus arteriosus, Short ribs, Thoracic platyspondyly... OMIM:618961
Hadziselimovic Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, Anal atresia, Pulmonary... OMIM:612946
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Cryptorchidism, Tapered finger, Short thumb, Tented upper lip vermilion, M... OMIM:619148
Tarp Syndrome
Clinodactyly, Abnormal duodenum morphology, Cryptorchidism, Hydronephrosis, Micrognathia, Scolios... ORPHA:2886
Alg3-Cdg
Lipodystrophy, High palate, Abnormality of the gastrointestinal tract, Abnormality of limb bone m... ORPHA:79321
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Atrioventricular canal defect DECIPHER:39
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Hydronephrosis, Patellar dislocation, Ventricular septal defect, Patent ductus ar... ORPHA:353281
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Ciliary Dyskinesia, Primary, 6
Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Ciliary dyskinesia OMIM:610852
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Long philtrum, Cryptorchidism, Hydronephrosis, Clinodactyly of the 5th... ORPHA:96092
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:277740
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Genu varum, Coronal cleft vertebrae, Patent ductus arteriosus, Epiphyse... ORPHA:1952
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Hepatomegaly, H... OMIM:232700
Diaphanospondylodysostosis
Vertebral segmentation defect, Enlarged kidney, Cystic renal dysplasia, Missing ribs, Short neck,... OMIM:608022
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Anal atresia OMIM:246000
Ellis Van Creveld Syndrome
Foot polydactyly, Cryptorchidism, Microdontia, Dextrocardia, Micromelia, Ventricular septal defec... ORPHA:289
Mesoaxial Hexadactyly And Cardiac Malformation
Abnormal 3rd finger morphology, Patent ductus arteriosus, Atrial septal defect, Everted lower lip... OMIM:249670
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Cryptorchidism, Micrognathia, Micromelia, Broad long bones, Narrow chest, Cleft palate... ORPHA:1865
Primary Pulmonary Hypoplasia
Ureteral stenosis, Patellar hypoplasia, Abnormal tracheal morphology, Dextrocardia, Micrognathia,... ORPHA:2257
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Intestinal malrotation, Congenital diaphragmatic ... OMIM:601163
Roberts Syndrome
Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Polycystic kidney dyspl... ORPHA:3103
22Q11.2 Deletion Syndrome
Foot polydactyly, Gastrointestinal hemorrhage, Tricuspid atresia, Long philtrum, Cryptorchidism, ... ORPHA:567
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Total anomalous pulmonary venous return, Short ... OMIM:312870
Acalvaria
Omphalocele, Spina bifida, Postaxial hand polydactyly, Abnormal lung lobation, Cleft palate ORPHA:945
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly, Hypoplasia of penis ORPHA:2935
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Pes planus, Inguinal hernia, Scoliosis, Ventricul... ORPHA:329224
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Baller-Gerold Syndrome
Bowing of the long bones, Abnormal carpal morphology, High palate, Abnormality of the ureter, Nar... ORPHA:1225
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Polycystic kidney dysplasia, Micromelia, Narrow chest, Cleft palate, Br... OMIM:614091
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Long philtrum, Radial head subluxation, Cryptorchidism, Agenesis of pine... ORPHA:536471
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis OMIM:618801
Vacterl With Hydrocephalus
Abnormal form of the vertebral bodies, Cryptorchidism, Tracheoesophageal fistula, Hypoplasia of t... ORPHA:3412
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Atrioventricular canal defect OMIM:619142
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Muscular ventricular septal defect, Tracheoesophageal fistula, Esophag... OMIM:619227
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic lef... OMIM:615524
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Ventral hernia, Long philtrum, Micrognathia, Omphalocele, Bicuspid a... OMIM:618529
Caudal Regression Syndrome
Ectopic kidney, Abnormality of the ureter, Abnormality of pelvic girdle bone morphology, Missing ... ORPHA:3027
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Inguinal hernia, Ventricular septal defect, Interrupted aortic arch, Cervical ribs, P... OMIM:600001
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia, Osteopenia OMIM:619073
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent thumb, Absent gallbladder, Cystic renal dysplasia, Splenogonada... OMIM:156810
Lowe-Kohn-Cohen Syndrome
Nephropathy, Anal atresia, Anorectal anomaly ORPHA:2408
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Micrognathia, Abnormal cervical curvature, Hyp... OMIM:253290
Ciliary Dyskinesia With Excessively Long Cilia
Immotile cilia, Sinusitis, Airway obstruction, Chronic rhinitis, Ciliary dyskinesia OMIM:242680
Rhombencephalosynapsis
Finger syndactyly, Short phalanx of finger, Tracheoesophageal fistula, Aganglionic megacolon, Ana... ORPHA:59315
Genitopatellar Syndrome
Cryptorchidism, Hydronephrosis, Micrognathia, Multicystic kidney dysplasia, Patellar dislocation,... OMIM:606170
Meier-Gorlin Syndrome 4
Emphysema, Narrow mouth, Cryptorchidism, Lateral clavicle hook, Thick lower lip vermilion, Microg... OMIM:613804
3P25.3 Microdeletion Syndrome
Acromesomelia, Tapered finger, Micrognathia, Coronary artery atherosclerosis, High, narrow palate... ORPHA:435638
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anomalous pulmo... OMIM:617478
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, M... OMIM:609052
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe synd... ORPHA:3304
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269