Gene Summary

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

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 tail morphology Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
abnormal limb bud morphology Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
abnormal tail 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 1.86×10-05
abnormal facial morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
hemorrhage 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
decreased circulating calcium level Pcsk5tm1b(KOMP)Mbp HET Early adult 5.94×10-05
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
preweaning lethality, complete penetrance Pcsk5tm1b(KOMP)Mbp HOM   Early adult 0.00
abnormal neural tube closure Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
abnormal body wall morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 0.00
abnormal embryo size Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
decreased circulating cholesterol level Pcsk5tm1b(KOMP)Mbp HET Early adult 7.08×10-06
decreased circulating HDL cholesterol level Pcsk5tm1b(KOMP)Mbp HET Early adult 6.80×10-06
embryonic growth retardation Pcsk5tm1b(KOMP)Mbp HOM E12.5 0.00
abnormal limb morphology Pcsk5tm1b(KOMP)Mbp HOM E15.5 0.00
increased heart weight Pcsk5tm1b(KOMP)Mbp HET Early adult 2.36×10-08
abnormal limb morphology Pcsk5tm1b(KOMP)Mbp HOM E18.5 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Morphology Embryo E12.5

Images

4 Images

Adult LacZ

LacZ Images Section

29 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Gross Morphology Embryo E14.5-E15.5

Images

4 Images

Eye Morphology

Images Slit Lamp

1 Images

Eye Morphology

Images Ophthalmoscopy

2 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
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... OMIM:611884
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurr... OMIM:615482
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... OMIM:618254
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Double outlet right ventricle, Me... OMIM:605376
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Rhinorrhe... OMIM:615067
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough... OMIM:615451
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:608644
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Upper limb phocomelia, P... ORPHA:294975
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Broad thumb, Absent radius, Phocomelia, Micrognathia, Thrombocytopenia, Genu varum, Cl... ORPHA:3320
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Chronic rh... OMIM:614017
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Recurrent sinusitis, Respi... OMIM:614874
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia... OMIM:612444
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Respiratory insufficiency, Dex... OMIM:616037
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... OMIM:614679
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Recombinant 8 Syndrome
Scoliosis, Cryptorchidism, Downturned corners of mouth, Abnormal sternum morphology, Patent ductu... ORPHA:96167
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusi... OMIM:615505
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Edema of the do... OMIM:274000
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Otopalatodigital Syndrome Type 2
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Narrow chest, Flared iliac wing, Elbow d... ORPHA:90652
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:615500
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Recurrent sinusitis, Situs inversus totalis, Chronic sinusitis OMIM:612518
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Enlarged kidney, Short humerus, Absent radius, Anal atresia, ... OMIM:314390
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Dental crowding, Camptodactyly, Natal toot... OMIM:300373
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Dextrocardia, I... OMIM:606763
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Short nose, Lon... ORPHA:401935
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, C... OMIM:612474
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis,... OMIM:613807
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Ciliary Dyskinesia, Primary, 13
Ciliary dyskinesia, Situs inversus totalis, Bronchiectasis, Sinusitis OMIM:613193
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Morphological abnormality of the gastrointestinal tract, Omphalocele, Aplasia/Hypoplas... ORPHA:1834
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Platyspondyly, Short philtrum, Short neck,... ORPHA:93267
Nail-Patella Syndrome
Scoliosis, Enamel hypoplasia, Abnormality of tibia morphology, Morphological abnormality of the g... ORPHA:2614
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Camptodactyly of finger, Wormian bones, Midshaft hypospadias, Abnormality of the ... ORPHA:2863
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Ectrodactyl... ORPHA:2437
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bod... OMIM:265000
Vacterl/Vater Association
Cryptorchidism, Omphalocele, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Congeni... ORPHA:887
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Patent ductus arteriosus,... OMIM:609029
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short neck, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal ao... ORPHA:2516
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Short neck, Broad ribs, Narrow chest, Narrow palate, Ventricu... OMIM:617022
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Catel-Manzke Syndrome
Cryptorchidism, Camptodactyly, Ulnar deviation of the 2nd finger, Hyperphalangy of the 2nd finger... OMIM:616145
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Boomerang Dysplasia
Cryptorchidism, Abnormality of tibia morphology, Abnormality of femur morphology, Poorly ossified... ORPHA:1263
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, Congenital di... ORPHA:958
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Cleft upper lip, Cleft pala... OMIM:231060
Prune Belly Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Hydroureter, Intestinal malrotation, Paten... ORPHA:2970
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis OMIM:274210
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Anterior... OMIM:260660
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Immoti... OMIM:614935
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Short thorax, Patent ductus a... OMIM:618845
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery atresia, Double outlet righ... OMIM:618316
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Genitopatellar Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Hypoplastic ischia, Micrognathia, Wide nose, ... ORPHA:85201
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimuation ... OMIM:220210
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Narrow chest, Elbow dislocation, Thoracic platyspondyly, Multin... OMIM:108720
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... OMIM:617577
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Ventricular septal defect, Patent ductus arteriosus, Esophageal at... OMIM:300514
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Narrow chest, Abnormal form of the vertebral bodie... ORPHA:1354
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal lower motor neuron morphology, Laryngomalacia, Ab... ORPHA:93941
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodac... OMIM:201000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... OMIM:601355
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Mesomelia, Hypoplasia of the uln... OMIM:228940
17Q12 Microduplication Syndrome
Atrial septal defect, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Cleft pal... ORPHA:261272
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Cough, Dextrocardia, Neonatal respiratory distress, Rhini... OMIM:618063
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Paten... OMIM:228520
Kagami-Ogata Syndrome
Patent ductus arteriosus, Omphalocele, Micrognathia, Depressed nasal bridge, Long philtrum, Flexi... OMIM:608149
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Pate... ORPHA:96170
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, R... OMIM:613808
Nail-Patella Syndrome
Scoliosis, Hematuria, Pes planus, Iliac horns, Antecubital pterygium, Renal insufficiency, Quadri... OMIM:161200
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Foot oligodactyly, Esophageal va... OMIM:616589
Recombinant Chromosome 8 Syndrome
Scoliosis, Cryptorchidism, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, ... OMIM:179613
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Bronchiectasis OMIM:616481
Pentalogy Of Cantrell
Scoliosis, Abnormality of tibia morphology, Atrial septal defect, Talipes, Ventricular septal def... ORPHA:1335
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Omphalocele, Aplasia/Hypoplasia of the radius, Abnormal ... ORPHA:2141
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusi... OMIM:615444
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Short phalanx of finger, Narrow chest, Flared iliac wing, Flat aceta... OMIM:184260
Distal Monosomy 17Q
Short thorax, Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Abnormal form... ORPHA:1597
Congenital Contractural Arachnodactyly
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Aortic aneurysm, Mitral v... ORPHA:115
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Abnormal vertebral morphology, Ventricular septal ... ORPHA:210122
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Platyspondyly, Sh... ORPHA:2655
Mosaic Trisomy 8
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Narrow chest, Vesicoureteral reflu... ORPHA:96061
Melnick-Needles Syndrome
Scoliosis, Narrow chest, Omphalocele, Short distal phalanx of finger, Vesicoureteral reflux, Shor... ORPHA:2484
Greenberg Dysplasia
Tracheal calcification, Epiphyseal stippling, Short phalanx of finger, Narrow chest, Intestinal m... OMIM:215140
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Fryns Syndrome
Cryptorchidism, Narrow chest, Intestinal malrotation, Omphalocele, Short distal phalanx of finger... ORPHA:2059
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Crossed fused renal ectopia, Elbow dislocation, Intestinal malrotation, Abnormality ... ORPHA:2538
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Ompha... OMIM:601927
Phocomelia, Schinzel Type
Cryptorchidism, Abnormality of tibia morphology, High, narrow palate, Short neck, Micrognathia, E... ORPHA:2879
Esophageal Atresia
Scoliosis, Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Choana... ORPHA:1199
Li-Campeau Syndrome
Cryptorchidism, Long philtrum, Atrial septal defect, Ventricular septal defect, Patent ductus art... OMIM:619189
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Abnormal heart morphology, Anal atresia, Hydronephrosis, Rectal atresia... OMIM:613390
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Renal cyst, Stage 5 chr... OMIM:615994
Mosaic Trisomy 9
Scoliosis, Cryptorchidism, Bulbous nose, Elbow dislocation, Intestinal malrotation, Patent ductus... ORPHA:99776
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Abnormality of epiphysis morphology, Mi... ORPHA:1388
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Abnormality of the ribs, Bowing of the long bones, Intestinal malrotation, Omphalo... ORPHA:3035
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophageal atresia, Coarc... ORPHA:1923
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... OMIM:611867
C Syndrome
Scoliosis, Cryptorchidism, Patent ductus arteriosus, Omphalocele, High palate, Micrognathia, Disl... OMIM:211750
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormality of the elbow, Patent ductus arteriosus, Anemia, Short neck, Abnormal th... ORPHA:1842
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot ORPHA:1381
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Micromelia, Short ribs, Pulmon... OMIM:241800
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Pes planus, Talocalcaneal synostosis, Sandal gap, Wide capital fe... OMIM:147891
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Short neck, Micrognathia, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Scholte Syndrome
Broad nasal tip, Acromicria, Everted lower lip vermilion, Reduced subcutaneous adipose tissue, Sm... OMIM:300977
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Lateral clavicle hook, Brachydactyly, Narrow chest OMIM:617405
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Mosaic Trisomy 1
Omphalocele, Oral cleft, Long toe, Congenital diaphragmatic hernia, Complete duplication of thumb... ORPHA:1692
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Cardiomegaly, Multiple rib fractures, Short neck, Micr... OMIM:616897
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Ventricular septal ... OMIM:617895
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Craniosynostosis-Fibular Aplasia Syndrome
Open bite, Cryptorchidism, Wormian bones, Short neck, Talipes, Abnormal sternum morphology, Abnor... ORPHA:1533
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Patent ductus arteri... ORPHA:1972
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Prune Belly Syndrome
Congenital hip dislocation, Abnormal heart morphology, Pectus carinatum, Abnormal sternum morphol... OMIM:100100
Marden-Walker Syndrome
Scoliosis, Cryptorchidism, Narrow mouth, Abnormal sternum morphology, Camptodactyly, Dextrocardia... OMIM:248700
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral single transverse palmar creases, Short distal phalanx of fin... ORPHA:1120
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Abnormality of the abdominal wall, Anisospondyly, Narrow mouth, Thoracic hypoplas... OMIM:224410
Holt-Oram Syndrome
Scoliosis, Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones... ORPHA:392
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Kyphosis, Postaxial polydactyly, Knee flexion co... OMIM:603387
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Dextrocardi... ORPHA:1759
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Pulmonic ste... OMIM:615415
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Abnormal vertebral morphology, Ventricular septal defect, Patent ductus arteriosu... ORPHA:77298
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Short fifth metatarsal, Underdeveloped nasal alae, Dysplastic sacrum, ... OMIM:134780
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Toe syndactyly, Truncus arteriosus, Finger syndact... ORPHA:2008
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal resp... OMIM:612649
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Meier-Gorlin Syndrome 7
Scoliosis, Cryptorchidism, Craniosynostosis, Narrow mouth, Choanal atresia, Bowing of the legs, V... OMIM:617063
Vater/Vacterl Association
Scoliosis, Abnormal sternum morphology, Choanal atresia, Patent ductus arteriosus, Absent radius,... OMIM:192350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Pericardial e... OMIM:235510
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplen... OMIM:612526
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Vertebral fusion, Dextrocardia, Cleft palate, Supernumerary ribs, Vertebral segment... OMIM:221950
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Posterior rib fusion, Hydroureter, Intestinal malrotation, O... OMIM:265380
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thin vermilion border, Bulbous nose, Thoracic kyphosis, Metatarsus adductus, High palate, Decreas... ORPHA:3041
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Esophagitis, Thin vermilion border, Tented philtrum, Bulbous nose, Narrow mouth, ... ORPHA:495818
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Situs inversus totalis, Rib fusion, Vertebral segmentation defect, Hemivertebrae, V... OMIM:613686
Short-Rib Thoracic Dysplasia 12
Narrow chest, Natal tooth, Horizontal ribs, Omphalocele, Intestinal malrotation, Hamartoma of ton... OMIM:269860
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Short nose, Narrow mouth, Ventricular septal defect, Everted lower... ORPHA:261120
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Cryptorchidism, Broad thumb, Short phalanx of finger, Hypoplastic right heart, Downtur... OMIM:616894
Thakker-Donnai Syndrome
Narrow mouth, Downturned corners of mouth, Ventricular septal defect, Bulbous nose, Hemivertebrae... ORPHA:1780
Trisomy 1Q
Cryptorchidism, Narrow mouth, Patent ductus arteriosus, Omphalocele, Congenital diaphragmatic her... ORPHA:261344
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Hypoplasia of the radius, Fibular aplasia, Short neck, Thin vermilion border, Nar... OMIM:266910
Atelosteogenesis Type I
Scoliosis, Narrow chest, Abnormality of fibula morphology, Micrognathia, Short femur, Multiple re... ORPHA:1190
Opitz Gbbb Syndrome
Cryptorchidism, Craniosynostosis, Natal tooth, Patent ductus arteriosus, Omphalocele, Vesicourete... ORPHA:2745
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Microphthalmia, Syndromic 9
Single ventricle, Patent ductus arteriosus, Pelvic kidney, Congenital diaphragmatic hernia, Agene... OMIM:601186
17Q23.1Q23.2 Microdeletion Syndrome
Scoliosis, Bulbous nose, Narrow mouth, Pes planus, Patent ductus arteriosus, Bilateral single tra... ORPHA:261279
Delpire-Mcneill Syndrome
Dysphagia, Hip dislocation, Tracheoesophageal fistula, Ventricular septal defect OMIM:619083
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Decreased nasal nitric oxide, Bronchiectasis, Atelectasis OMIM:615872
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Hamartoma of tongue, Narrow gr... OMIM:617925
Focal Dermal Hypoplasia
Scoliosis, Open bite, Abnormal dental enamel morphology, Split hand, Patent ductus arteriosus, Om... ORPHA:2092
Schisis Association
Spina bifida, Omphalocele, Unilateral cleft lip, Anal atresia, Congenital diaphragmatic hernia, C... ORPHA:63862
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Zimmermann-Laband Syndrome 3
Broad nasal tip, Thick lower lip vermilion, Absent distal phalanx of the 2nd toe, Kyphosis, Flexi... OMIM:618658
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Narrow chest, Broad first metatarsal, Ovoid vertebral b... OMIM:239850
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Shor... OMIM:615297
Infantile Myofibromatosis
Gingival fibromatosis, Chondrocalcinosis, Abnormal thorax morphology, Neoplasm of the lung, Abnor... ORPHA:2591
Mosaic Trisomy 16
Short forearm, Patent ductus arteriosus, Abnormal thorax morphology, Short thumb, Short femoral n... ORPHA:1708
Fanconi Anemia
Scoliosis, Cryptorchidism, Abnormal carotid artery morphology, Hydroureter, Pes planus, Choanal a... ORPHA:84
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, ... ORPHA:85166
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Pectus excavatum, Tented upper lip vermilion, Abnormal cardiac septum morphology,... OMIM:614294
Camptodactyly Syndrome, Guadalajara Type 2
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Short 5... ORPHA:1326
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Narrow palate, Split hand, Hemivertebrae, Phocomelia, High ... OMIM:276820
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Thin vermilion border, Craniosynostosis, Short metatarsal, Short phalanx of finge... OMIM:609945
Distal Trisomy 15Q
Cryptorchidism, Camptodactyly of finger, Long philtrum, Short neck, Downturned corners of mouth, ... ORPHA:1707
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Short nose, Narrow chest, Beaking of vertebral bodies,... OMIM:618961
Pseudotrisomy 13 Syndrome
Cryptorchidism, Median cleft lip and palate, Postaxial hand polydactyly, Tricuspid atresia, Atria... OMIM:264480
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Depressed nasal bridge, Hypopla... OMIM:114290
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Atelosteogenesis Type Iii
Laryngotracheomalacia, Elbow dislocation, Club-shaped distal femur, Absent radius, High palate, M... ORPHA:56305
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Narrow chest, Natal tooth, Horizontal ribs, Postaxial polydactyly, Omphalocele, P... OMIM:616300
Fryns-Smeets-Thiry Syndrome
Scoliosis, Short philtrum, Downturned corners of mouth, Thick lower lip vermilion, Everted lower ... ORPHA:2058
Hydrocephalus With Associated Malformations
Intestinal malrotation, Omphalocele, Tibial bowing, Pulmonary hypoplasia, Lower limb undergrowth,... OMIM:236640
Chromosome 9P Deletion Syndrome
Scoliosis, Narrow mouth, Pes planus, Choanal atresia, Omphalocele, Patent ductus arteriosus, High... OMIM:158170
Atelosteogenesis Type Ii
Short phalanx of finger, Narrow chest, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal... ORPHA:56304
Distal Tetrasomy 15Q
Scoliosis, Hydrocele testis, Atrial septal defect, Craniosynostosis, Horseshoe kidney, Abnormal h... ORPHA:314588
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis, Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck, Ep... OMIM:609325
Stuve-Wiedemann Syndrome
Scoliosis, Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia,... OMIM:601559
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Underdeveloped nasal alae, Abnormal heart morphology, Flexion contracture, Omphalocel... OMIM:263210
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Craniosynostosis, Patent ductus arteriosus, High palate, Absent gallbladder, Micr... OMIM:145410
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Rhizomelia, Omphalocele, Tal... ORPHA:85174
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Abnormal palate morphology, Abnormal hip bone morphology, Hypopl... ORPHA:3068
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Patent ductus arteriosus, Intestinal malrotation,... OMIM:147750
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Double outlet right ventricle, Mitral valve prolapse, Sclerotic cranial sutures, Ost... ORPHA:371428
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Exertional dyspnea, Coarc... ORPHA:1330
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
3C Syndrome
Scoliosis, Intestinal malrotation, Hemivertebrae, Oral cleft, High, narrow palate, Short neck, Mi... ORPHA:7
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Codas Syndrome
Scoliosis, Cryptorchidism, Enamel hypoplasia, Short phalanx of finger, Congenital hip dislocation... OMIM:600373
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Toot... ORPHA:1166
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Intestinal malrotation, Pulmonic ste... ORPHA:3426
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Narrow chest, Horizontal ribs, Intestinal malrotation, Pancreat... OMIM:263520
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Pes planus, Patent ductus arteriosus, Flat acetabular roof, Patent foramen ovale, Clin... OMIM:618870
Mckusick-Kaufman Syndrome
Tarsal synostosis, Patent ductus arteriosus, Abnormality of the metacarpal bones, High palate, Po... ORPHA:2473
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Lower limb undergrowth, Abnormality of femur morphology, Abnormality of epiphysis m... ORPHA:2310
Penoscrotal Transposition
Pectus carinatum, Penoscrotal transposition, Bilateral single transverse palmar creases, Abnormal... ORPHA:2842
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Horizontal ribs, Postaxial polydactyly, Intestinal malrotation, Hamartoma of tongue, S... OMIM:613091
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Peripheral pulmonary artery stenosis,... ORPHA:2712
Trisomy 13
Scoliosis, Cryptorchidism, Narrow chest, Patent ductus arteriosus, Bilateral single transverse pa... ORPHA:3378
Kuskokwim Syndrome
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Talipes, Aplasia/... ORPHA:1149
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Narrow chest, Talipes, Renal hypoplasia, Rhizomelia, Patent ductus arteriosus, Hemivertebrae, Hyp... OMIM:617661
Dextrocardia
Meckel diverticulum, Abnormality of the ribs, Situs inversus totalis, Congenital hip dislocation,... ORPHA:1666
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Partial diaphragmatic absence of pericardium, Pulmonary sequestration, Atria... ORPHA:2847
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Micropenis, 2-3 toe syndactyly, Pa... OMIM:617516
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Epiphyseal stippling, Short distal phalanx of toe, Patent ductus arterios... ORPHA:79345
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Pulmonary edema, Pulmonary artery ... ORPHA:3384
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Urethral obstruction, Autoimmune thrombocytopenia, Prune belly, Renal ... OMIM:601389
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Clinoda... OMIM:618164
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta, Tracheomalacia, Oral cleft, Bifid thoracic verte... ORPHA:268249
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Pes planus, Choanal atresia, Sandal gap, Short distal ph... ORPHA:261330
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Bronchomalacia, Pro... OMIM:277740
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... OMIM:615524
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Ventricular septal defect, Foot oligodactyly, Omphalocele, Bilateral clef... OMIM:601357
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Abnormal sternum mo... ORPHA:457395
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Clubbing of fingers, Narrow mouth, Narrow chest, Hypoplastic ischia, Bowing of th... ORPHA:1865
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Morphological abnormality of the g... ORPHA:2990
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Cryptorchidism, Broad thumb, Two carpal ossification centers present at birth, Flared ... OMIM:312870
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short m... OMIM:304120
Odontochondrodysplasia
Scoliosis, Platyspondyly, Delayed eruption of teeth, Short nose, Narrow chest, Square pelvis bone... ORPHA:166272
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Ventricular... OMIM:192430
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Crossed Polysyndactyly
Postaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of pen... ORPHA:2935
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Abnormal hand mor... ORPHA:228190
Tonne-Kalscheuer Syndrome
Cryptorchidism, Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology... OMIM:300978
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Nephropathy, Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Talipes equinovalgus, Mesomel... OMIM:605274
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
8P Inverted Duplication/Deletion Syndrome
Scoliosis, Cryptorchidism, Small hypothenar eminence, Positional foot deformity, Dextrocardia, Hi... ORPHA:96092
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis, Respiratory insuffi... OMIM:615504
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Sprengel... ORPHA:2345
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect, Anal atresia,... ORPHA:3469
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Gastroesophageal ... OMIM:600123
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Abnormality of the metacarpal bones, Vesicoureteral reflux, Abnormality ... ORPHA:1225
Charge Syndrome
Scoliosis, Cryptorchidism, Choanal atresia, Omphalocele, Patent ductus arteriosus, Hemivertebrae,... OMIM:214800
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Absent uvula, Broad thumb, Short nose, Camptodactyly, Mesomelia, Omphalocele, Wide... OMIM:618529
Ulbright-Hodes Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, Abnormality of the ribs, High pa... ORPHA:3404
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Pes planus, Thoracic kyphosis, Pelvic kidney, Short neck, Mi... ORPHA:508498
Contractural Arachnodactyly, Congenital
Scoliosis, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Congenital kyphoscoliosi... OMIM:121050
Periventricular Nodular Heterotopia
Scoliosis, Abnormal heart valve morphology, Gastroesophageal reflux, Patent ductus arteriosus, Sh... ORPHA:98892
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Hip dysplasia, Bifid distal phalanx of toe, Scoliosis, Elevated circulating luteinizing hormone l... OMIM:618419
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Wormian bones, Narrow mout... ORPHA:96334
Diaphanospondylodysostosis
Missing ribs, Unossified sacrum, Short neck, Micrognathia, Narrow pelvis bone, Depressed nasal br... OMIM:608022
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Atrial septal defect, Hand polydactyly, Craniosynostosis, Abnormal vertebral morpholog... ORPHA:261197
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Narrow chest, ... ORPHA:93296
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatu... ORPHA:3268
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Respiratory tract infection, Hypoplasia of the radius, Short femur, Short philtru... OMIM:607143
Genitopatellar Syndrome
Cryptorchidism, Congenital hip dislocation, Hypoplastic inferior pubic rami, Short phalanx of fin... OMIM:606170
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Pectus excavatum, Abnormal cardiac... ORPHA:1937
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Abnormal cervical curvature, Ver... OMIM:312150
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Abnormal stomach morphology, Meckel diverticulum, Morphologic... ORPHA:141127
Hadziselimovic Syndrome
Prominent nasal bridge, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect,... OMIM:612946
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
3P25.3 Microdeletion Syndrome
Scoliosis, Broad thumb, Downturned corners of mouth, Patent ductus arteriosus, Postaxial polydact... ORPHA:435638
Ritscher-Schinzel Syndrome 2
Scoliosis, Cryptorchidism, Short philtrum, Atrial septal defect, Overlapping toe, Ventricular sep... OMIM:300963
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Narrow chest, Open mouth, Camptodactyly, Choanal atresia, Patent ductus arteriosu... OMIM:619148
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Sprengel anomaly, Choanal atresia, Esophageal atresia, Submucous cleft hard pal... OMIM:619227
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, Recurrent pneumonia OMIM:616726
22Q11.2 Deletion Syndrome
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Carious teeth, Bulbous nose, Narrow... ORPHA:567
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... ORPHA:2370
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Atrial septal defect, Ventricular septal defect,... OMIM:608406
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arteriosus, Bic... OMIM:604381
Feingold Syndrome Type 1
Gastrointestinal atresia, Patent ductus arteriosus, Vesicoureteral reflux, Short thumb, Multiple ... ORPHA:391641
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Pes planus, Small epiphyses, Short femoral neck, Advanced ossification ... OMIM:618363
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent sinusitis, Neonatal resp... OMIM:617091
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Respiratory insufficiency, Pulmonic ... ORPHA:1461
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Arthrogryposis multiplex congenita, Craniosynostosis, Double outlet right ventric... OMIM:301056
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short neck, Long philtrum, Short mid... OMIM:211920
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Narrow chest, Downturned corners of mouth, Patent ductus arteriosus, Abnormal car... OMIM:217980
Tarp Syndrome
Scoliosis, Cryptorchidism, Tongue nodules, Postaxial polydactyly, Alveolar ridge overgrowth, Micr... ORPHA:2886
Mosaic Trisomy 14
Cryptorchidism, Camptodactyly of finger, Short neck, Anteverted nares, Narrow chest, Wide mouth, ... ORPHA:1703
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Thoracoabdominal Syndrome
Patent ductus arteriosus, Omphalocele, Ectopia cordis, Hypospadias, Pulmonary hypoplasia, Congeni... OMIM:313850
3Q29 Microdeletion Syndrome
Short philtrum, Horseshoe kidney, Short nose, Dental crowding, Pectus carinatum, Pectus excavatum... ORPHA:65286
Cat-Eye Syndrome (Type I)
Anal atresia, Abnormal heart morphology DECIPHER:42
Roberts Syndrome
Cryptorchidism, Craniosynostosis, Underdeveloped nasal alae, Bilateral single transverse palmar c... ORPHA:3103
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Scapular winging, Arthrogryposis multiplex congenita, Dental crowding, Camptodactyly, Flexion con... OMIM:617468
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Omphalocele, Testicular atrophy, Pulmonary hypoplasia, Sy... OMIM:601163
Ellis Van Creveld Syndrome
Cryptorchidism, Thin vermilion border, Narrow chest, Hydroureter, Short distal phalanx of finger,... ORPHA:289
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Triploidy
Cryptorchidism, Macroglossia, Short neck, Narrow mouth, Narrow chest, Finger syndactyly, Intestin... ORPHA:3376
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Narrow chest, Small abnormally formed scapulae, Sh... ORPHA:140
Meier-Gorlin Syndrome 6
Hip dysplasia, Cryptorchidism, Short nose, Underdeveloped nasal alae, Microretrognathia, Short mi... OMIM:616835
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Esophageal atresia, Wide nasal bridge, Anal atresia, Anemia, Cleft ... OMIM:614083
Ciliary Dyskinesia, Primary, 40
Cough, Situs inversus totalis, Rhinitis, Abnormal heart morphology OMIM:618300
3Mc Syndrome 1
Lambdoidal craniosynostosis, Dental crowding, Patent ductus arteriosus, Omphalocele, Spina bifida... OMIM:257920
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Broad thumb, Enlarged thorax, Pes planus, Broad hallux pha... ORPHA:251071
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress OMIM:300991
Rapadilino Syndrome
Slender nose, Stiff interphalangeal joints, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia ... OMIM:266280
Hypertrichotic Osteochondrodysplasia, Cantu Type
Narrow chest, Broad hallux phalanx, Ovoid vertebral bodies, Patent ductus arteriosus, Short dista... ORPHA:1517
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Scoliosis, Cryptorchidism, Broad thumb, Bulbous nose, Downturned corners of mouth, Pes planus, Pa... ORPHA:329224
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Carious teeth, Abnormal proximal phalanx morphology of the hand, Broad thumb, Nar... ORPHA:353281
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Meier-Gorlin Syndrome 4
Cryptorchidism, Lateral clavicle hook, Narrow mouth, Thick lower lip vermilion, Breast hypoplasia... OMIM:613804
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arte... ORPHA:3304
Miller-Dieker Syndrome
Short nose, Omphalocele, Sacral dimple, Nephropathy, Abnormality of upper lip, Clinodactyly of th... ORPHA:531
Cerebrocostomandibular Syndrome
Scoliosis, Anomalous tracheal cartilage, Congenital hip dislocation, Patent ductus arteriosus, Hi... OMIM:117650
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Rhombencephalosynapsis
Short phalanx of finger, Short nose, Finger syndactyly, Polydactyly, Aganglionic megacolon, Esoph... ORPHA:59315
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Coronal cleft vertebrae, Bowing of the long bones, Patent ductus arteriosus... ORPHA:1952
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Underdeveloped nasal alae, Fibular duplication, Short foot, Synda... OMIM:135750
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Everted lower lip vermilion, P... OMIM:249670
Teebi Hypertelorism Syndrome
Long philtrum, Atrial septal defect, Short nose, Dental crowding, Ventricular septal defect, Nata... OMIM:145420
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Atrial septal defect, Recurrent respiratory infections, Ventricular septal... OMIM:253300
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Abnormal ciliary motility, Recurrent sinusitis, Sinusitis OMIM:610852
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular... OMIM:614091
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Short neck, Broad ribs, Narrow chest, Abnormal ... ORPHA:2021
Hypertelorism And Tetralogy Of Fallot
Long philtrum, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina b... OMIM:239711
Marshall-Smith Syndrome
Scoliosis, Choanal atresia, Omphalocele, Patent ductus arteriosus, Short distal phalanx of finger... OMIM:602535
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Natal tooth, Choanal atresia, Patent ductus ar... OMIM:146510
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Duplication involving bones of the feet OMIM:246000
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Scoliosis, Camptodactyly of finger, Patent ductus arteriosus, Arachnodactyly, Wide nose ORPHA:1321
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Short finger, Flexion contracture, Thin ribs, Abnormal cervical curvature, Ver... OMIM:253290
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Vacterl With Hydrocephalus
Cryptorchidism, Hypoplasia of the radius, Spina bifida, Abnormal form of the vertebral bodies, Es... ORPHA:3412
Acalvaria
Spina bifida, Postaxial hand polydactyly, Omphalocele, Cleft palate, Abnormal lung lobation ORPHA:945
Pentasomy X