Gene Summary

Name:
PTK7 protein tyrosine kinase 7
Synonyms:
8430404F20Rik,  mPTK7/CCK4,  chz

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
increased total body fat amount Ptk7chz HET Early adult 5.49×10-05
preweaning lethality, complete penetrance Ptk7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal response to new environment Ptk7chz HET Early adult 4.95×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 50% (1 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 0.0% (0 of 2)
Oral epithelium  Wholemount images heterozygote 50% (1 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 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)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Pancreas 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 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

8 Images

Adult LacZ

LacZ Images Wholemount

16 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E18.5

Embryo reconstruction

4 Images

Human diseases caused by Ptk7 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 Ptk7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Absence Of Upper Arm And Forearm With Hand Present
Congenital malformation of the great arteries, Polydactyly, Abnormal cardiac septum morphology, A... ORPHA:294975
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Pseudodiastrophic Dysplasia
Rhizomelia, Elbow dislocation, Scoliosis, Phalangeal dislocation, Platyspondyly, Malar flattening... ORPHA:85174
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Phaver Syndrome
Camptodactyly of finger, Conductive hearing impairment, Epicanthus, Butterfly vertebrae, Abnormal... ORPHA:2876
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Gastroschisis, Hypoplastic left heart, Apla... ORPHA:2476
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmen... ORPHA:2311
Orofaciodigital Syndrome Xviii
Urinary incontinence, Genu valgum, Wide nasal bridge, Cervical ribs, Single transverse palmar cre... OMIM:617927
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnorma... OMIM:211960
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Wide nasal bridge, Ventricular septal defect, Micrognathia, Short neck, Proximal plac... ORPHA:93267
Fetal Encasement Syndrome
Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic hernia, Horseshoe kidney... OMIM:613630
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Patent ductus arteriosus, Vertebral fusion, Double outlet right ventricle, Bilater... OMIM:618845
Caudal Duplication
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormal... ORPHA:1756
Carpenter Syndrome 1
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... OMIM:201000
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Patent ductus arteriosus, Crossed fused renal ectopia, Ventricular septal defect, H... OMIM:618142
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Atrioventricular canal defect, Patent ductus arteriosus, Preaxial hand polyd... ORPHA:1120
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Renal cyst, Hypospadias, ... OMIM:231060
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Depressed nasal bridge, ... ORPHA:1918
Acalvaria
Spina bifida, Abnormal lung lobation, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyl... ORPHA:945
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Finger sy... ORPHA:1263
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Spina bifida occu... ORPHA:64754
Miller-Dieker Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Short nose, Nephropathy, Anteverted nares, Omphalo... ORPHA:531
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Micrognathia, Spina bifida occulta, 1-2 finger syndactyly, Abnormality of ... ORPHA:2437
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Upslanted palpebral fissure, Short thorax, Vertebral segmentation defect, Missing ... ORPHA:1797
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Ab... ORPHA:2345
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Synophrys, Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Cutaneous syndactyly, Posteri... OMIM:618316
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... OMIM:220210
Loeys-Dietz Syndrome 2
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Camptodactyly, Ascending aortic dissectio... OMIM:610168
Basal Cell Nevus Syndrome 1
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ... OMIM:109400
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Conductive hearing impairment, Epicanthus, Pulmonary hypoplasia, Pectus ... ORPHA:2990
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... ORPHA:90652
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Upslanted palpebral fissure, Coxa vara, Microtia, Vertebral segm... ORPHA:1988
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Marfan Syndrome
Meningocele, Aortic tortuosity, Ascending tubular aorta aneurysm, Pulmonary artery dilatation, As... ORPHA:558
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Short femur, Holoprosenceph... OMIM:601357
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Short ribs, Micrognathia, Vertebral wedging, Missing ribs, Hydrocephalus, Pol... OMIM:617866
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Butterfly vertebrae, Posterior rib fusion, Pulmonary artery dilata... OMIM:265380
Joubert Syndrome 18
Retrognathia, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Renal cyst, Kyphoscolios... OMIM:614815
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Vertebral fusion, Short thorax, Myelomeningocele, Bell-sh... OMIM:613686
Pentalogy Of Cantrell
Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Renal dysplasia, Anenc... ORPHA:1335
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Ventricular septal defect, Short ribs, Hy... OMIM:617895
Ulnar Hemimelia
Spinal dysraphism, Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis,... ORPHA:93320
Verheij Syndrome
Vertebral fusion, Short 5th finger, Wide nasal bridge, Abnormal cardiac septum morphology, Renal ... OMIM:615583
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Epicanthus, Synophrys, Recurrent sinusitis, Pectus excavatum, Overlapping toe, Short neck, Postax... OMIM:213980
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Kyphosis, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Spina Bifida-Hypospadias Syndrome
Spina bifida, Hypospadias, Spinal dysraphism ORPHA:3176
C Syndrome
Patent ductus arteriosus, Renal cortical cysts, Ventricular septal defect, Short metacarpal, Wide... OMIM:211750
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, 2-3 toe syndactyly, Choanal stenosis, Narrow nasal ridge, Renal dysplasia, Cli... OMIM:236500
Trisomy 1Q
Wide nose, Camptodactyly of finger, Patent ductus arteriosus, Multicystic kidney dysplasia, Conge... ORPHA:261344
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Postaxial hand polydactyly, Omp... OMIM:603194
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... OMIM:155050
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Abnormal vertebral morphology, Short nose, Short neck, Anteverted nares ORPHA:2015
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Ca... OMIM:603546
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal dysplasia, Prune belly, Cervical ribs, ... OMIM:601389
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Coxa valga, Wide nasal bridge, Abnormality of the fifth metatarsal bone, To... OMIM:311300
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Short toe, Dental malocclusion, Mandibular prognathia, Camptodactyly of finger, Ha... ORPHA:1327
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Epicanthus, Synophrys, Clinodactyly of the 5th finge... ORPHA:3268
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... OMIM:179613
Kagami-Ogata Syndrome
Retrognathia, Patent ductus arteriosus, Flexion contracture, Diastasis recti, Coxa valga, Ventric... OMIM:608149
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae, Recurre... OMIM:608681
Jawad Syndrome
Retrognathia, Absent fourth finger distal interphalangeal crease, Prominent nose, Hallux valgus, ... OMIM:251255
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Abnormal aortic morpholo... ORPHA:1926
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Vesicoureteral reflux, Coxa valga, Abnormal meta... ORPHA:2484
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Conductive hearing impairment, Multiple joint contractures, E... OMIM:265000
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Underdeveloped nasal alae, Convex nasal ridge, Flexion contracture, Short long bone... OMIM:263210
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... OMIM:607323
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Mosaic Trisomy 1
Camptodactyly of finger, Renal cortical cysts, Wide nasal bridge, 2-3 finger syndactyly, Toe synd... ORPHA:1692
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... ORPHA:380
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalocele, Mandibular progna... ORPHA:1908
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly o... ORPHA:2370
Marfan Syndrome
Flexion contracture, Pneumothorax, Ascending tubular aorta aneurysm, Reduced subcutaneous adipose... OMIM:154700
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short nose, Sandal gap, Anteverted ... ORPHA:217340
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Hernia of the abdominal wall,... ORPHA:1277
Limb Body Wall Complex
Wide nasal bridge, Spina bifida occulta, Broad hallux, Aplasia of the proximal phalanges of the h... ORPHA:2369
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... ORPHA:64755
Chromosome 9P Deletion Syndrome
Tapered finger, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th toe, Short neck, Choanal... OMIM:158170
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Epicanthus, Toe syndactyly, Elbow dislocation, Pectus excavatum, Short n... ORPHA:1507
Cerebrofaciothoracic Dysplasia
Bifid ribs, Downslanted palpebral fissures, Hernia, Epicanthus, Narrow chest, Vertebral segmentat... ORPHA:1394
Meester-Loeys Syndrome
Aortic root aneurysm, Downslanted palpebral fissures, Abnormal sternum morphology, Pulmonary arte... OMIM:300989
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Congenital diaphragmatic hernia, Microm... ORPHA:63862
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, T... ORPHA:2839
Constricting Bands, Congenital
Encephalocele, Gastroschisis, Abnormal lung lobation, Hand polydactyly, Ectopia cordis, Abnormal ... OMIM:217100
Aicardi Syndrome
Bifid ribs, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Spina bifida, Supernumerary r... OMIM:304050
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Short neck, Short palm, Narrow greater sciatic notch, P... OMIM:228520
Vacterl/Vater Association
Omphalocele, Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger syndactyly, Abnormal... ORPHA:887
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... OMIM:174400
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Upslanted palpebral fissure, Aqueductal stenosis, Abnormally ossified vertebrae, Radial bowing, P... ORPHA:3035
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Renal hypoplasia/aplasia, Micrognathia, Vertebral segmentation... ORPHA:1834
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Retrognathia, Radial deviation of the hand, Mic... ORPHA:2756
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Cutis Laxa, Autosomal Recessive, Type Ib
Aortic root aneurysm, Downslanted palpebral fissures, Pulmonary artery aneurysm, Vascular tortuos... OMIM:614437
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Wide nasal bridge, Micrognathia, Bicuspid aortic valve, Clinodactyly, Camptodacty... OMIM:618529
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... ORPHA:1166
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Acropectoral Syndrome
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... OMIM:605967
Lethal Congenital Contracture Syndrome 10
Downslanted palpebral fissures, Cardiomegaly, Ventricular septal defect, Short long bone, Pulmona... OMIM:617022
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Hydrocephalus, Re... OMIM:264480
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... ORPHA:2092
Meckel Syndrome, Type 8
Polydactyly, Encephalocele, Depressed nasal ridge, Pericardial effusion, Enlarged kidney, Polycys... OMIM:613885
Cloacal Exstrophy
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Hydroureter, Tal... ORPHA:93929
Loeys-Dietz Syndrome 1
Aortic root aneurysm, Patent ductus arteriosus, Abnormal sternum morphology, Pulmonary artery ane... OMIM:609192
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Epicanthus, Thoracic dysplasia, Pulmonary hypoplasia, Holoprosencephaly, Short n... OMIM:269860
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Abnormality of the orbital region, Carpal osteolysis, Abnormal han... ORPHA:371428
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Hyperlordosis, Genu valgum, Mandibular prognathia, Rhizomelia, Short metacarpal, Depre... ORPHA:2831
Fetal Valproate Spectrum Disorder
Omphalocele, Depressed nasal ridge, Short nose ORPHA:1906
Vater/Vacterl Association
Renal dysplasia, Patent urachus, Tethered cord, Abnormal rib morphology, Choanal atresia, Vesicou... OMIM:192350
Bardet-Biedl Syndrome 10
Renal cyst, Polydactyly, Renal insufficiency OMIM:615987
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Increased intervertebral space, Short ribs, Short long bone, Coarse met... OMIM:618961
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, Narrow pelvis bone... ORPHA:66637
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Patellar aplasia, Finger syndactyly, ... ORPHA:3329
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Meckel Syndrome, Type 10
Sacral dimple, Epicanthus, Anencephaly, Camptodactyly, Narrow palpebral fissure, Postaxial foot p... OMIM:614175
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... OMIM:217095
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... OMIM:615297
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal de... OMIM:616546
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Joint contracture of the hand, Wide nasal bridge, Preaxial foot polyda... OMIM:175700
Iniencephaly
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... ORPHA:63259
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Patent ductus arteriosus, Coxa valga, Abnormal metaphysi... ORPHA:166272
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... OMIM:274000
Wolf-Hirschhorn Syndrome
Optic atrophy, Abnormal cardiac septum morphology, Epicanthus, Abnormal thorax morphology, Short ... ORPHA:280
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Short nose, Cubitus valgus, Short foot OMIM:300577
Trisomy 20P
Camptodactyly of finger, Micrognathia, Abnormality of the ureter, Short neck, Abnormal form of th... ORPHA:261318
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Scoliosis... ORPHA:1937
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Toe syndactyly, Micrognathia, Short nose, De... ORPHA:261120
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Right ... OMIM:306955
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Wide nas... ORPHA:508498
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, Wide nasal bridge, M... ORPHA:3304
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Conductive hearing impairment, Short 5th finger, Optic atrophy, Epicanth... OMIM:607872
Donnai-Barrow Syndrome
Ventricular septal defect, Short nose, Congenital diaphragmatic hernia, Depressed nasal bridge, P... ORPHA:2143
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short long bone, Short ribs, Thoracic dysplasia, Pulmonary hypoplasia,... OMIM:615503
Robinow Syndrome, Autosomal Dominant 3
Short phalanx of finger, Wide nasal bridge, Micrognathia, Camptodactyly, Short neck, Sacral dimpl... OMIM:616894
Chromosome 10Q26 Deletion Syndrome
Convex nasal ridge, Wide nasal bridge, Toe syndactyly, Micrognathia, 2-3 toe cutaneous syndactyly... OMIM:609625
Maxillonasal Dysplasia
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... ORPHA:1248
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Horizontal ribs, Hypoplastic facial bones, Narrow greater sciatic notch, Prominent n... OMIM:616300
Trigonocephaly 1
Wide nasal bridge, Long penis, Short nose, Lumbar hemivertebrae, Omphalocele OMIM:190440
Rhiny
Inguinal hernia, Anteverted nares, Short nose OMIM:180360
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Syndactyly, Ante... OMIM:601163
Ring Chromosome 8 Syndrome
Short nose, Abnormality of the ureter, Anteverted nares, Deviation of finger, Hydronephrosis ORPHA:1450
Mosaic Trisomy 9
Camptodactyly of finger, Renal dysplasia, Micrognathia, Hip dislocation, Elbow dislocation, Short... ORPHA:99776
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Renal dysplasia, Toe syndactyly, Short femu... ORPHA:93323
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Wide nasal bridge, Ventricular septal defect, Atrial septal defect, Short nos... ORPHA:401935
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenes... OMIM:601355
Non-Syndromic Metopic Craniosynostosis
Omphalocele, Wide nasal bridge ORPHA:3366
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus OMIM:258320
Catel-Manzke Syndrome
Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Micrognathia, Clinodactyly... ORPHA:1388
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Sirenomelia, C... ORPHA:63260
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Distal Trisomy 15Q
Camptodactyly of finger, Micrognathia, Short neck, Arachnodactyly, Omphalocele, Prominent nasal b... ORPHA:1707
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Toe syndactyly, Micrognathia, Hydrocephalus, Renal agenesis, Radioulnar... ORPHA:171839
Phenobarbital Embryopathy
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Hypospadi... ORPHA:1919
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Hydroce... ORPHA:83473
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Ventricular septal defect, Kyphosis, Vascular ring, Hydrocephalus, Long... OMIM:603387
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Syndactyly-Polydactyly-Earlobe Syndrome
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... OMIM:186350
Triploidy
Meningocele, Finger syndactyly, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, ... ORPHA:3376
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Optic atrophy, Epicanthu... OMIM:618164
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Vertebral segment... ORPHA:3186
Orofaciodigital Syndrome Xvii
Retrognathia, Polydactyly, Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly, ... OMIM:617926
Holt-Oram Syndrome
Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog... ORPHA:392
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Ventricular septal defect, Joint c... OMIM:113000
3Mc Syndrome 1
Conductive hearing impairment, Short 5th finger, Synophrys, Abnormality of the abdominal wall, Sp... OMIM:257920
Pallister-Hall-Like Syndrome
Short ribs, Renal dysplasia, Micrognathia, Toe syndactyly, Hydrocephalus, Hip dislocation, Short ... OMIM:241800
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand poly... ORPHA:2091
Congenital Disorder Of Glycosylation, Type Iig
Conductive hearing impairment, Butterfly vertebrae, Camptodactyly, Cholesteatoma, Short neck, Pos... OMIM:611209
Multisystemic Smooth Muscle Dysfunction Syndrome
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... OMIM:613834
Acromicric Dysplasia
Small hand, Short metacarpal, Fifth metacarpal with ulnar notch, Short nose, Ovoid vertebral bodi... ORPHA:969
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed nasal bridge... ORPHA:1913
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Preaxial hand polydactyly, Rhizomelia, Kyphosis, Abnormality of the elbow, M... ORPHA:3098
Maternal Phenylketonuria
Bifid distal phalanx of the thumb, Double outlet right ventricle, Ventricular septal defect, Wide... ORPHA:2209
Acropectoral Syndrome
Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Metatropic Dysplasia
Camptodactyly of finger, Kyphosis, Aplasia/Hypoplasia of the lungs, Narrow chest, Hydrocephalus, ... ORPHA:2635
Crossed Polysyndactyly
Hearing abnormality, Aplasia/Hypoplasia of the thumb, Upslanted palpebral fissure, Finger syndact... ORPHA:2935
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... ORPHA:185
Ivic Syndrome
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... OMIM:147750
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Wide nasal bridge, Hypoplastic frontal si... OMIM:136760
Developmental Delay With Or Without Dysmorphic Facies And Autism
Wide nasal bridge, Micrognathia, 2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Patent fora... OMIM:618454
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Downslanted palpebral fissures, Kyphosis, Synophrys, Ptosis, Scolio... OMIM:615761
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Pagod Syndrome
Meningocele, Abnormal aortic morphology, Encephalocele, Optic atrophy, Spina bifida, Abnormality ... ORPHA:991
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Small hand, Wide nasal bridge, Natal tooth, Ventricular septal defect, Micr... OMIM:145420
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Diastasis... ORPHA:254528
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Renal cyst, Syndactyl... OMIM:263630
Tricuspid Atresia
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... ORPHA:1209
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus ORPHA:1208
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
3C Syndrome
Atrioventricular canal defect, Wide nasal bridge, Micrognathia, Short neck, Ventricular septal de... ORPHA:7
Aicardi Syndrome
Bifid ribs, Multiple lipomas, Sparse lateral eyebrow, Small hand, Optic atrophy, Block vertebrae,... ORPHA:50
Codas Syndrome
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Hydroureter, Short nose, ... ORPHA:1458
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ventral hernia, Anencephaly, Hydrocephalus, Renal agenesis, Ectopia cor... OMIM:313850
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Renal dysplasia, Talipes equinovarus, Short ribs, Enlarged kidney, Absent tibia,... OMIM:613091
3P25.3 Microdeletion Syndrome
Tapered finger, Epicanthus, 2-3 finger syndactyly, Overlapping toe, Broad hallux, Sacral dimple, ... ORPHA:435638
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, ... ORPHA:254534
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Fibrochondrogenesis 2
Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long bone, Micro... OMIM:614524
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... OMIM:620067
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, R... OMIM:617271
Cerebrocostomandibular Syndrome
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Ventricular septal defect, Kyphosis,... ORPHA:1393
Trisomy 18
Camptodactyly of finger, Narrow pelvis bone, Holoprosencephaly, Postaxial hand polydactyly, Abnor... ORPHA:3380
Hydrolethalus Syndrome 2
Micrognathia, Anencephaly, Hydrocephalus, Preaxial foot polydactyly, Postaxial foot polydactyly, ... OMIM:614120
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Clinodactyly of the 5th finger, Short nose, Inguinal hernia, Cong... ORPHA:217385
Viss Syndrome
Aortic tortuosity, Ascending tubular aorta aneurysm, Pneumothorax, Butterfly vertebrae, Hip dislo... OMIM:619472
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Spinal dysraphism, Flexion contracture, Coxa valga, Thoracic hypoplasia, Epicanthus,... ORPHA:96334
Omphalocele
Omphalocele ORPHA:660
Brachydactyly-Preaxial Hallux Varus Syndrome
Preaxial hand polydactyly, Radial club hand, Wide nasal bridge, Short metacarpal, Micrognathia, B... ORPHA:1278
Orofaciodigital Syndrome Xi
Downslanted palpebral fissures, Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphos... OMIM:612913
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Micrognathia, Holoprosencephaly, Depressed nasal tip, Fibular bowing, Talipes ... OMIM:612651
Femoral-Facial Syndrome
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... OMIM:134780
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epicanthus, Atrial septal defect, Ptosis, Pul... OMIM:612946
Fibrochondrogenesis
Camptodactyly of finger, Hearing abnormality, Bell-shaped thorax, Downslanted palpebral fissures,... ORPHA:2021
Codas Syndrome
Short phalanx of finger, Atrioventricular canal defect, Delayed eruption of teeth, Genu valgum, V... OMIM:600373
Bardet-Biedl Syndrome 16
Polydactyly, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal i... OMIM:615993
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Depressed nasal ridge,... OMIM:300863
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal aortic valve morphology... ORPHA:261197
Acrocephalopolydactyly
Depressed nasal ridge, Short long bone, Short nose, Limb undergrowth, Short neck, Brachydactyly, ... ORPHA:221054
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio... ORPHA:2547
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Optic atrophy, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, ... ORPHA:168549
Joubert Syndrome 14
Meningocele, Downslanted palpebral fissures, Encephalocele, Ventricular septal defect, Optic atro... OMIM:614424
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Desbuquois Dysplasia 1
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... OMIM:251450
Simpson-Golabi-Behmel Syndrome, Type 2
Short finger, Inguinal hernia, Broad thumb, Recurrent upper respiratory tract infections, Postaxi... OMIM:300209
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Depress... OMIM:601927
Primary Ciliary Dyskinesia
Conductive hearing impairment, Bronchiectasis, Abnormal inferior vena cava morphology, Hearing im... ORPHA:244
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Intervertebral space narrowing, Genu valgum, Short metacarpal, Wide nasal bridge, Capi... OMIM:614078
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Wide nasal bridge, Kyphosis, Abnormal cardiac septum morphology, Mi... ORPHA:2075
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Polydactyly, Wide nasal bridge, Delayed eruption of teeth, Joint contracture of th... OMIM:247200
Anophthalmia Plus Syndrome
Spina bifida, Vertebral segmentation defect, Abnormal nasal morphology, Deviation of finger, Choa... ORPHA:1104
Distal Trisomy 18Q
Camptodactyly of finger, Arachnodactyly, Progressive intervertebral space narrowing, Micrognathia... ORPHA:1716
Sonoda Syndrome
Depressed nasal bridge, High axial triradius, Ventricular septal defect OMIM:270460
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Dislocated radial head, Short neck, Radial deviation of finger, Short palm, Pos... OMIM:268310
Achondrogenesis Type 1B
Femoral hernia, Micrognathia, Talipes equinovarus, Short nose, Short neck, Anteverted nares, Micr... ORPHA:93298
Donnai-Barrow Syndrome
Short sternum, Non-acidotic proximal tubulopathy, Ventricular septal defect, Short nose, Congenit... OMIM:222448
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Telecanthus, Downslanted palpebral fissures, Coxa valga, Ventricul... OMIM:301056
Meckel Syndrome, Type 9
Occipital encephalocele, Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus OMIM:614209
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short nose, Depressed nasal bridge, Short ... ORPHA:1914
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... OMIM:102510
Microphthalmia, Syndromic 12
Retrognathia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplastic left atrium... OMIM:615524
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Wide nasal bridge, Toe syndactyly, Short neck, Abnormal rib morphology, ... ORPHA:373
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Hip dysplasia, Short nose, Inguinal hernia, Narrow nasal bridge, Scoliosis OMIM:618379
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Short nose, Short neck, An... ORPHA:1832
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Holoprosencephaly
Abnormal antihelix morphology, Spinal dysraphism, Optic atrophy, Epicanthus, Synophrys, Holoprose... ORPHA:2162
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
2-3 toe syndactyly, Patent foramen ovale, Double outlet right ventricle, Downslanted palpebral fi... ORPHA:477817
Desbuquois Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Coxa valga, Small ... ORPHA:1425
Chromosome 6Q11-Q14 Deletion Syndrome
Sacral dimple, Micrognathia, Talipes equinovarus, Short nose, Inguinal hernia, Single transverse ... OMIM:613544
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Dextrocardia, Recurrent lo... OMIM:618254
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Pallister-Hall Syndrome
Patent ductus arteriosus, Mesoaxial foot polydactyly, Short 4th metacarpal, Ventricular septal de... OMIM:146510
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly, Occipital encephalocele OMIM:615397
X-Linked Intellectual Disability, Siderius Type
Large hands, Preaxial hand polydactyly, Broad nasal tip, Scoliosis ORPHA:85287
1P36 Deletion Syndrome
Camptodactyly of finger, Conductive hearing impairment, Aortic arch aneurysm, Optic atrophy, Abno... ORPHA:1606
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Odontochondrodysplasia 1
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Nephronophthisis, Dentinog... OMIM:184260
Achondrogenesis Type 1A
Femoral hernia, Short foot, Micrognathia, Multiple rib fractures, Short nose, Short neck, Antever... ORPHA:93299
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Epicanthus, Toe syndactyly, Short femur, Radial deviation of finge... OMIM:277170
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metatarsal, Short thorax, Short metacarpal, Angel-shaped phalanx, ... OMIM:617102
Fibromuscular Dysplasia, Multifocal
Downslanted palpebral fissures, Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac art... OMIM:619329
Marshall-Smith Syndrome
Bilateral conductive hearing impairment, Hallux valgus, Recurrent aspiration pneumonia, Synophrys... OMIM:602535
Vacterl With Hydrocephalus
Retrognathia, Femoral hernia, Aqueductal stenosis, Absence of the sacrum, Spina bifida, Micrognat... ORPHA:3412
Feingold Syndrome 2
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... OMIM:614326
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Patent ductus arteriosus, Multicystic kidney dys... ORPHA:2970
Tarp Syndrome
Short sternum, Short palpebral fissure, Postaxial polydactyly, Optic atrophy, Microtia, Hypoplasi... OMIM:311900
Neural Tube Defects, Susceptibility To
Sacral dimple, Multiple lipomas, Urinary incontinence, Myelomeningocele, Absence of the sacrum, A... OMIM:182940
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short hallux, Short neck, Postaxia... OMIM:304120
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Rhizomelia, Short foot, Depressed nasal ridge, Abnormality of the calcane... ORPHA:163966
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand po... ORPHA:2378
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, S... OMIM:253000
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Camptodactyly, Fibular aplasia, Spin... OMIM:300373
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Meningocele, Thoracic hypoplasia, Recurrent aspiration pneumonia, Epicanthus, Abnormal optic disc... ORPHA:397715
Non-Distal Trisomy 10Q
Convex nasal ridge, Micrognathia, Short nose, Depressed nasal bridge, Scoliosis, Abnormality of t... ORPHA:1695
Intellectual Disability, Wolff Type
Camptodactyly of finger, Wide nasal bridge, Clinodactyly of the 5th finger, Microretrognathia, In... ORPHA:3080
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Fryns Syndrome
Vesicoureteral reflux, Abnormal aortic morphology, Multicystic kidney dysplasia, Wide nasal bridg... ORPHA:2059
Kbg Syndrome
Synophrys, Cervical ribs, Short neck, Radial deviation of finger, Ulnar deviation of the 2nd fing... OMIM:148050
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Carpenter Syndrome
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... ORPHA:65759
Bardet-Biedl Syndrome 17
Polydactyly, Hyposmia, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot poly... OMIM:615994
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Atrioventricular canal defect, Tapered finger, Epicanthus, Blepharophimosis, Synop... OMIM:613792
Hydrocephaly-Low Insertion Umbilicus Syndrome
Wide nose, Patent ductus arteriosus, Communicating hydrocephalus, Hernia of the abdominal wall, A... ORPHA:2184
Schneckenbecken Dysplasia
Snail-like ilia, Metaphyseal irregularity, Dumbbell-shaped long bone, Anterior rib cupping, Advan... OMIM:269250
Orofaciodigital Syndrome V
Downslanted palpebral fissures, Recurrent respiratory infections, Ventricular septal defect, Agan... OMIM:174300
Burn-Mckeown Syndrome
Abnormal cardiac septum morphology, Wide nasal bridge, Short nose, Bilateral choanal atresia, Pro... ORPHA:1200
Joubert Syndrome 10
Downslanted palpebral fissures, Low-set ears, Postaxial polydactyly, Epicanthus OMIM:300804
Atrial Septal Defect, Ostium Primum Type
Left ventricular hypertrophy, Clubbing of toes, Clubbing of fingers, Pulmonary artery dilatation,... ORPHA:99106
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Downslanted palpebral fissures, Sparse eyebrow, Macrotia, Sensorineural hearing im... ORPHA:544488
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle, Downslanted palpebral fissures, Ventricular ... OMIM:616652
Holoprosencephaly-Postaxial Polydactyly Syndrome
Absent nares, Encephalocele, Hypoplasia of the premaxilla, Abnormal cardiac septum morphology, Re... ORPHA:2166
Fountain Syndrome
Metaphyseal dysplasia, Kyphosis, Spina bifida, Abnormal metacarpal morphology, Craniofacial hyper... ORPHA:3219
Joubert Syndrome 16
Renal cyst, Polydactyly, Encephalocele, Nephronophthisis OMIM:614465
Nail-Patella Syndrome
Biceps aplasia, Triceps aplasia, Glomerulonephritis, Absent distal interphalangeal creases, Limit... OMIM:161200
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Depressed nasal bridge, Umbilical hernia OMIM:275100
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... OMIM:618719
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Depressed nasal bridge, Malar flattening, Postaxia... OMIM:615984
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Finger syndactyly, Micrognathia, Abnormality of the upper urinary tract, Shor... ORPHA:2145
Ruvalcaba Syndrome
Convex nasal ridge, Cone-shaped epiphysis, Small hand, Kyphosis, Short metacarpal, Abnormality of... ORPHA:3121
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Downslanted palpebral fissures, Ventricular septal defect, Epicanthus, ... OMIM:619717
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... OMIM:156530
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Deviation of finger, Depressed nasal ridge, Wide nasal bridge, Abnormal... ORPHA:2412
Nemaline Myopathy 9
Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Aplasia/Hypoplasia of the lungs, Toe syndactyly, Narro... ORPHA:474
Trisomy 4P
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Depressed nasal bridge, Sho... ORPHA:1738
Atelosteogenesis, Type Ii
Micrognathia, Limb undergrowth, Short neck, Talipes equinovarus, Lumbar hyperlordosis, Abnormal p... OMIM:256050
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Polydactyly, Atrioventricular canal defect, Unbalanced atrioventricular c... OMIM:619534
Even-Plus Syndrome
Vertebral clefting, Vesicoureteral reflux, Patent foramen ovale, Depressed nasal ridge, Recurrent... OMIM:616854
Tarp Syndrome
Abnormal antihelix morphology, Optic atrophy, Pulmonary hypoplasia, Prominent antihelix, Pectus e... ORPHA:2886
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Mohr Syndrome
Micrognathia, Partial duplication of the phalanges of the hallux, Postaxial hand polydactyly, Sho... OMIM:252100
Feingold Syndrome Type 2
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... ORPHA:391646
Meckel Syndrome 13
Polycystic kidney dysplasia, Micrognathia, Occipital encephalocele, Flexion contracture OMIM:617562
Diaphanospondylodysostosis
Micrognathia, Narrow pelvis bone, Short neck, Absent in utero rib ossification, Talipes equinovar... OMIM:608022
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Micropenis, Brachydactyly OMIM:615983
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Polydactyly OMIM:615988
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... ORPHA:1529
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Short long bone, Ventricu... ORPHA:2256
Suleiman-El-Hattab Syndrome
Polydactyly, Patent foramen ovale, Downslanted palpebral fissures, Ventricular septal defect, Opt... OMIM:618950
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Enlarged thorax, Tapered finger, Abnormal cardiac septum morpholog... ORPHA:251071
Campomelic Dysplasia
Short phalanx of finger, Spinal dysraphism, Hallux valgus, Micrognathia, Hip dislocation, Metatar... OMIM:114290
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Bilateral single transverse palmar creas... ORPHA:3033
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Toe syndactyly, Tetralogy of Fallot, Pulmonic stenosis, Hyd... ORPHA:251076
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Flexion contracture, Tapered finger, Ventricular septal defect, Interph... OMIM:613870
Jacobsen Syndrome
Wide nasal bridge, Toe syndactyly, Hip dislocation, Broad columella, Short neck, Abnormal form of... ORPHA:2308
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Wide nasal bridge, Micrognathia, Short femur, Hypertrophic cardiomyopathy, L... OMIM:616897
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Clinodactyly, Short... OMIM:618577
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of F... OMIM:615542
Lambotte Syndrome
Retrognathia, Convex nasal ridge, Ventricular septal defect, Preaxial foot polydactyly, Semilobar... OMIM:245552
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Prominent nose, Radioulnar synostosis, Carious teeth, Prominent nas... ORPHA:3270
Specc1L-Related Hypertelorism Syndrome
Patent ductus arteriosus, Short toe, Finger syndactyly, Wide nasal bridge, Ventricular septal def... ORPHA:1519
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Spinal dysraphism, Tethered cord, Scoliosis, Lipoma, Sandal gap, Renal hypoplasia... OMIM:612918
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Aplasia/Hypoplasia of the eyebrow, Short long bone, Short ribs, Epicanthus, Flat ace... OMIM:614091
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Polydactyly, Hernia, Ventricular septal defect, Hydrocephalus, Syndactyly, Depres... OMIM:602501
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Convex nasal ridge, Finger joint hypermobility, Prominent nasal tip, Butterfl... OMIM:618870
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Downslanted palpebral fissures, Ventricular septal defect, Kyphosis, Bilatera... ORPHA:404440
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Coxa valga, Wide nasal bridge, Micrognathia, Broad hallux, Short neck, Short palm, Ventricular se... OMIM:620073
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Short 5th metacarpal, Perimembranous ventricular septal defect, Clin... OMIM:617877
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Tapered finger, Thoracic hemivertebrae, Bicuspid aortic valve, Clinodactyly of the 5... OMIM:619721
Joubert Syndrome 7
Genu valgum, Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Postaxial hand polydactyl... OMIM:611560
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Clinodactyly of the 5th finger, Short nose, Delayed eruption of perman... OMIM:618506
Atelosteogenesis, Type Iii
Rhizomelia, Horizontal sacrum, Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular ro... OMIM:108721
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulm... OMIM:249670
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... ORPHA:3104
Burn-Mckeown Syndrome
Underdeveloped nasal alae, 2-3 toe syndactyly, Mandibular prognathia, Bilateral choanal atresia/s... OMIM:608572
Spondylocarpotarsal Synostosis Syndrome
Short neck, Limited elbow extension, Scapular winging, Talipes equinovarus, Vertebral fusion, Cap... OMIM:272460
Cartilage-Hair Hypoplasia
Spinal dysraphism, Convex nasal ridge, Wide nasal bridge, Abnormal cardiac septum morphology, Abn... ORPHA:175
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Knee flexion contracture, Preaxial hand polydactyly, Pear-shaped nose, Interphalangeal joint cont... OMIM:606242
Waardenburg Syndrome Type 1
Meningocele, Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Spina bifida, S... ORPHA:894
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Horizontal ribs, Hypoplastic pubic bone, Microtia, Short long bone, Short ribs, Narr... OMIM:617925
Acrodysostosis
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Abnormal form of the vertebra... ORPHA:950
Thrombocytopenia-Absent Radius Syndrome
Coxa valga, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Cervical ribs, Pho... ORPHA:3320
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... ORPHA:2516
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Achondrogenesis
Micrognathia, Short nose, Inguinal hernia, Short neck, Anteverted nares, Micromelia, Umbilical he... ORPHA:932
Fryns Syndrome
Thoracic hypoplasia, Camptodactyly, Pulmonary hypoplasia, Short neck, Aplasia of the left hemidia... OMIM:229850
Jackson-Weiss Syndrome
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Con... ORPHA:1540
Whistling Face Syndrome, Recessive Form
Underdeveloped nasal alae, Knee flexion contracture, Micrognathia, Elbow flexion contracture, Cam... OMIM:277720
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Pseudoepiphyses, Epicanthus, Congenital sensorineural hearing impa... OMIM:157800
Cranioacrofacial Syndrome
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect OMIM:122850
Intellectual Developmental Disorder, Autosomal Dominant 36
Downslanted palpebral fissures, Hip dysplasia, Hydrocephalus, Deviation of the 5th finger, Pectus... OMIM:616362
Acromesomelic Dysplasia 1
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... OMIM:602875
Down Syndrome
Atrioventricular canal defect, Conductive hearing impairment, Epicanthus, Pulmonary artery stenos... OMIM:190685
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... OMIM:309350
Acromelic Frontonasal Dysostosis
Short tibia, Tubulonodular pericallosal lipoma, Polydactyly, Encephalocele, Patellar hypoplasia, ... OMIM:603671
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Sho... OMIM:602613
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, 2-3 toe syndactyly, 11 pairs of ribs, Downslanted palpebral fissures, Aorto... OMIM:620025
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly, Hydrocephalus OMIM:615938
Oculoauriculofrontonasal Syndrome
Underdeveloped nasal alae, Wide nose, Encephalocele, Ventricular septal defect, Micrognathia, Sco... ORPHA:398156
Sirenomelia
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the radius, ... ORPHA:3169
Hajdu-Cheney Syndrome
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra... OMIM:102500
Braddock-Carey Syndrome 1
Enamel hypoplasia, Hyperlordosis, Multicystic kidney dysplasia, Small hand, Wide nasal bridge, Ve... OMIM:619980
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Elbow... OMIM:210710
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... OMIM:614613
Distal Tetrasomy 15Q
Retrognathia, Nephroblastoma, Arachnodactyly, Flexion contracture, Hernia, Patent ductus arterios... ORPHA:314588
Carpenter Syndrome 2
Epicanthus, Camptodactyly, Pectus excavatum, Short neck, Talipes equinovarus, Posteriorly rotated... OMIM:614976
Mullegama-Klein-Martinez Syndrome
Polydactyly, Prominent nose, Wide nasal bridge, Abnormal cardiac septum morphology, Micrognathia,... OMIM:301022
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Spinal dysraphism, Absence of the sacrum, Mitral stenosis, Butterfly verte... OMIM:617660
Perlman Syndrome
Retrognathia, Nephroblastoma, Wide nasal bridge, Micrognathia, Hypoplasia of penis, Short nose, I... ORPHA:2849
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, Thoracic kyphosis, Micrognathia, Flat acetabular roof, Anis... ORPHA:163649
Pentasomy X