Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
PDS5 cohesin associated factor A
Synonyms:
E230024D05Rik,  9030416H16Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pds5a 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 Pds5a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Death in infancy, Vertebral fusion, Short long bone, Double outlet right v... OMIM:618845
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Ventricular septal defect, Abnormal cranial nerve morphology... ORPHA:2345
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Cleft palate, Renal agenesis, Polydactyly, Abnormal heart mo... ORPHA:294975
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Cleft palate, Cleft upper lip, Cervical C2/C3 vertebral fusion, Fused ... OMIM:214300
Frontometaphyseal Dysplasia 1
Cor pulmonale, Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camp... OMIM:305620
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... OMIM:616898
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of th... ORPHA:3320
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Holzgreve Syndrome
Renal hypoplasia, Cleft palate, Renal agenesis, Cleft upper lip, Hypoplastic left heart, Hand pol... OMIM:236110
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Pectus excavatum, Hemivertebrae, Posterior rib fusion, Pulmonary arter... OMIM:608406
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Vertebral fusion, Hemivertebrae, Long philtrum, Renal cyst, Cli... OMIM:615583
Pierre Robin Syndrome
Cor pulmonale, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Pierre-Robin sequence, 11 pairs of ribs, Anterior open-bite malocclusion, T... OMIM:617877
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Cardiomyopathy, Fusion of midcervical facet joints, Cervical vertebral... OMIM:606842
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Cleft palate, High, narrow palate, Obstructive sleep apnea, Ren... OMIM:618494
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal form of t... ORPHA:1354
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Pectus excavatum, Abnormality of the ureter, Abnormal clavicle morphology, Fused cer... ORPHA:2522
Syngnathia
Cleft palate OMIM:119550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Hemivertebrae, Patent ductus arteriosus, Hypoplastic left heart, Narrow chest, ... OMIM:617661
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Cleft palate, Abnormal vertebral segmentation and ... ORPHA:66637
Catel-Manzke Syndrome
Ventricular septal defect, Cleft palate, Metatarsus valgus, Pectus excavatum, Abnormality of epip... ORPHA:1388
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Finger syndactyly, Abnor... ORPHA:3268
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neona... OMIM:228940
Klippel-Feil Syndrome 1, Autosomal Dominant
Cleft palate, Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Abnorm... OMIM:118100
Even-Plus Syndrome
Renal hypoplasia, Hypodontia, High palate, Coronal cleft vertebrae, Dysplasia of the femoral head... OMIM:616854
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Ventricular septal defect, Cleft palate, Hemivertebrae, Double outle... OMIM:220210
Vacterl Association With Hydrocephalus
Abnormality of the vertebral column, Renal hypoplasia, Respiratory insufficiency, Radial club han... OMIM:276950
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Renal agenesis, Duodenal atresia, Submucous cleft hard pal... OMIM:619227
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Truncus arteriosus, Short distal phalanx of finger, Unil... OMIM:601355
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Polydactyly, Short middle phalanx of the 2nd finger, Micro... OMIM:617926
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Tongue fasciculations OMIM:253300
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Carious teeth, Smooth philtrum, Patent ductus arteriosus, Micropenis, Unilateral ren... ORPHA:363444
Kniest Dysplasia
Cleft palate, Pierre-Robin sequence, Short thorax, Short long bone, Laryngotracheomalacia, Verteb... ORPHA:485
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Horseshoe kidney, Rib fusion, Cone-shaped epiphysis, Long philtrum, Fused cerv... OMIM:157800
Hadziselimovic Syndrome
Thick lower lip vermilion, Renal hypoplasia, Ventricular septal defect, High palate, U-Shaped upp... OMIM:612946
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Avascular necrosis of the capital femoral epi... OMIM:611555
Emanuel Syndrome
Cleft palate, Truncus arteriosus, Patent ductus arteriosus, Delayed eruption of teeth, Micropenis... ORPHA:96170
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Long philtrum, Cervical C2/C3 vertebral fusion, Cardiomyopathy, Everted lower lip ve... OMIM:616549
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplasia... OMIM:609053
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Ventricular septal defect, Hydronephrosis, Pectus excavatum, Double ou... OMIM:179613
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Pectus excavatum, Cleft palate, High palate, Respiratory insufficiency, Facial palsy, Respiratory... OMIM:614399
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Cleft palate, Cleft upper lip, Double outlet right ventri... OMIM:231060
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Abnormal heart morphology, Atrial septal defect OMIM:617744
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Cleft palate, Absent phalangeal crease, Fused thoracic vertebrae, Fused cervic... OMIM:618469
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Situs inversu... OMIM:613686
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Delayed eruption of permanent teeth, Shor... OMIM:113000
Mosaic Trisomy 20
Horseshoe kidney, Spinal canal stenosis, Ventricular septal defect, Cleft palate, Vertebral fusio... ORPHA:1724
Braddock Syndrome
Pectus excavatum, Neonatal respiratory distress, Hemivertebrae, Pulmonary arterial hypertension, ... ORPHA:52047
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Abnormality of the op... ORPHA:508498
Odontochondrodysplasia 1
Genu varum, Death in infancy, Delayed eruption of teeth, Genu recurvatum, Short phalanx of finger... OMIM:184260
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Butterfly vertebrae, Cleft palate, Laryngotracheomalacia, Mitral stenosis, Abse... OMIM:617660
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, High palate, Postaxial polydactyly, Patent ductus arteriosus, Preaxial... OMIM:618142
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short middle phalanx of finger, Abnormal sacrum morphology, Anal atresia, Fused cervical vertebra... ORPHA:1436
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Vascular dilatation, Short humerus, Ve... OMIM:607323
Bresek Syndrome
Renal hypoplasia, Aganglionic megacolon, Cleft palate, Hemivertebrae, Renal dysplasia, Optic nerv... ORPHA:85284
Uvula, Bifid
Bifid uvula OMIM:192100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Cleft palate, Renal agenesis, Cleft upper lip, Sprengel anom... OMIM:601076
Cleft Soft Palate
Cleft soft palate OMIM:119570
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Cleft palate, Truncus arteriosus, High palate, Renal... OMIM:609029
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Hallux valgus, Broad femoral neck, Respiratory insufficiency, Ectopic ossifi... OMIM:135100
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Long fing... OMIM:618316
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis OMIM:249670
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Cleft palate, 2-3 toe syndactyly, Short philtrum, Cl... OMIM:608572
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart, Tetralogy of Fa... OMIM:615779
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, High palate, 2-3 toe syndactyly, Short philtrum, Drooling, Joint hyper... ORPHA:3306
Chopra-Amiel-Gordon Syndrome
Smooth philtrum, Cleft palate, Pierre-Robin sequence, Short philtrum, Joint hypermobility, Cleft ... OMIM:619504
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short phal... OMIM:274000
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
8p23.1 deletion syndrome
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Cleft palate, Respiratory insufficiency, A... ORPHA:1166
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Short metatarsal, Neonatal death, 11 pairs of ribs, Short hu... OMIM:108720
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Cleft palate, Triphalangeal thumb, Hypoplasia of first ribs, Aplasia/Hypoplasia of... OMIM:154400
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Cleft palate, Ectopic anus, Non-midline cleft lip, Hypoplastic left heart ORPHA:2476
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Neonatal respiratory distress, Cleft palate, Syndactyly, Dysplastic patella, High pa... OMIM:265000
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Pseudotrisomy 13 Syndrome
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Complete atrioventricular canal defect... OMIM:264480
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Kyphoscol... OMIM:277300
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Pectus excavatum, Oligodontia, Abnormal vertebral morphology, Kyphoscoliosis, D... OMIM:616817
Mmep Syndrome
Ventricular septal defect, Median cleft lip, Oral cleft ORPHA:3434
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Hypertrophy of the urinary bladder, Renal dysplasia, Anal atresia, Sprengel ano... OMIM:601389
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, 2-3 toe syndactyly, Renal dysplasia, Neonatal death, Renal cyst, Arthrogryposis... OMIM:236500
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale OMIM:611363
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Short middle phalanx of finger, Anal atresia, Fused cervical vertebrae, Thoracic hemivertebrae, P... OMIM:309620
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Frontometaphyseal Dysplasia
Cleft palate, Oligodontia, Short metatarsal, Joint contracture of the hand, Progressive bowing of... ORPHA:1826
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Cleft palate, Short ribs, Short uvula, Syndactyly, Short long bone, Flat acetabular ... OMIM:614091
Sandestig-Stefanova Syndrome
High palate, Rocker bottom foot, Prominent metopic ridge, Perimembranous ventricular septal defec... OMIM:618804
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... ORPHA:1209
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Dextrocardia, Pyloric stenosis, Cleft palate, High palate, High, n... OMIM:248700
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Mungan Syndrome
Renal hypoplasia, Megaduodenum, Intestinal pseudo-obstruction, Perimembranous ventricular septal ... OMIM:611376
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect OMIM:615297
Thakker-Donnai Syndrome
Hydronephrosis, Ventricular septal defect, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 ve... ORPHA:1780
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Short philtrum, Atrial septal defect, Widel... OMIM:608227
Poland Syndrome
Hypospadias, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morpholog... ORPHA:2911
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Metaphyseal dysplasia, Short ilia... ORPHA:93316
Split-Hand/Foot Malformation 3
Renal hypoplasia, Cleft palate, High palate, Split hand, Narrow mouth, Camptodactyly OMIM:246560
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Add... OMIM:619110
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis OMIM:235740
Femoral-Facial Syndrome
Cleft palate, Abnormal localization of kidney, Thin upper lip vermilion, Abnormality of pelvic gi... ORPHA:1988
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Cleft palate, Long upper lip, Limited elbow extension, Elbow flexion contracture, High palate, Pe... ORPHA:93359
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, Patent ductus arteriosus, Short to... OMIM:269860
Prune Belly Syndrome
Volvulus, Patent ductus arteriosus, Urogenital sinus anomaly, Intestinal atresia, Vertebral segme... ORPHA:2970
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal hypoplasia, Toe syndactyly, Renal agenesis, Pectus carinatum, Long philtrum, B... ORPHA:171839
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Patent ductus arteriosus, Fing... ORPHA:392
Asymmetric Short Stature Syndrome
Dental crowding, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Pierre-Robin sequence, Hip contracture, Sh... OMIM:617137
Kbg Syndrome
Cleft palate, Vertebral fusion, Oligodontia, Long philtrum, Cutaneous syndactyly, Congenital malf... ORPHA:2332
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Thick lower lip vermilion, Hydronephrosis, Ventricular septal defect, Renal agenesis... OMIM:301040
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Cleft palate, Microglossia, Upper airway obstruction, Respiratory ... ORPHA:141152
Odontochondrodysplasia
Death in infancy, Cone-shaped epiphysis, Bowing of the long bones, Platyspondyly, Delayed eruptio... ORPHA:166272
Lamb-Shaffer Syndrome
Optic atrophy, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Thick vermilion border... ORPHA:530983
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Takenouchi-Kosaki Syndrome
Hypospadias, Smooth philtrum, Abnormal sternum morphology, Proximal placement of thumb, Patent du... OMIM:616737
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Abnormality of the vertebral column, Unilateral chest hypoplasia, Aganglionic megacolon, Cleft pa... OMIM:308205
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Pierre-Robin sequence, Hip contracture, Short thorax, Short long bon... OMIM:618363
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphyseal widening, ... OMIM:614376
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebra... ORPHA:2635
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Cleft palate, Cleft upper lip, Abnormal vertebral segment... OMIM:244600
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... OMIM:609052
Apert Syndrome
Pyloric stenosis, Cutaneous finger syndactyly, Cleft palate, Delayed eruption of teeth, Overridin... OMIM:101200
Pallister-Hall Syndrome
Cleft palate, Renal dysplasia, Neonatal death, Microglossia, Patent ductus arteriosus, Micropenis... OMIM:146510
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Ventricular septal defect, Inflammation of the large intestine, Death in infancy, ... OMIM:614576
Eng-Strom Syndrome
Ventricular septal defect, Pectus excavatum, Arthritis, Abnormal cardiac septum morphology, Campt... ORPHA:1937
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Orofaciodigital Syndrome Type 5
Absent cupid's bow, Accessory oral frenulum, Hypodontia, Aganglionic megacolon, Cleft soft palate... ORPHA:2919
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Epiphyseal dysplasia, Disloca... ORPHA:166016
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Renal hypoplasia, High palate, Thin ribs, Phocomelia, Pneumothorax, Renal dyspla... OMIM:266910
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Renal hypoplasia, Abnormality of the ulna, Cleft palate, High palate, Microdon... ORPHA:1307
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Hypoplasia of penis, Finger syndactyly, Aplasia of t... ORPHA:2256
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Widely spaced teeth, Wide mouth, Joint dislocation, Clinodactyly, Respiratory distre... OMIM:300934
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Short philtrum, Abnormality of epiphysis morphology, Bowing of the lon... ORPHA:93267
Melnick-Needles Syndrome
Short thorax, Delayed eruption of teeth, Anisospondyly, Delayed cranial suture closure, Cone-shap... ORPHA:2484
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Hemivertebrae, Abnormality of the philtrum, Abnormal form of the vertebr... ORPHA:2759
Radio-Renal Syndrome
High, narrow palate, Renal agenesis, Abnormality of the elbow, Renal dysplasia, Abnormal form of ... ORPHA:3015
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Stomatitis, Osteomyelitis, Osteopenia, Respiratory distress, Fused cervical vertebrae, Flaring of... OMIM:612852
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Cleft palate, Smooth philtrum, Laryngotracheomalacia, Wide mout... OMIM:618454
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect OMIM:613751
Diaphanospondylodysostosis
Cystic renal dysplasia, Thoracic hypoplasia, Absent in utero ossification of vertebral bodies, Cl... OMIM:608022
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Hypodontia, Smooth philtrum, Long philtrum, Bifid distal phalanx of the thumb, ... OMIM:618419
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Atrial septal defect, Submucous cleft hard palate, Pulmonic stenosis OMIM:619239
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Syndactyly, Fo... OMIM:616589
Orofaciodigital Syndrome V
Horseshoe kidney, Cleft palate, Aganglionic megacolon, Bifid uvula, Postaxial foot polydactyly, P... OMIM:174300
Juberg-Hayward Syndrome
Hypospadias, Horseshoe kidney, Toe syndactyly, Radioulnar synostosis, Abnormality of the elbow, A... ORPHA:2319
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Diprosopus
Non-midline cleft lip, Cleft palate, Abnormal cardiac septum morphology ORPHA:1681
3C Syndrome
Hypospadias, Cleft palate, Death in infancy, Finger syndactyly, Hand polydactyly, Aortic valve st... ORPHA:7
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614262
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Narrow mouth, Anal atresia ORPHA:3469
Perching Syndrome
Respiratory distress, High palate, Flexion contracture, Camptodactyly OMIM:617055
Zttk Syndrome
Patent ductus arteriosus, Unilateral renal agenesis, Intestinal atresia, Polyuria, Ventricular se... OMIM:617140
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Gingival overgrowth, Short neck, Respiratory ... ORPHA:1832
White Forelock With Malformations
Atrial septal defect OMIM:277740
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system, Bifid distal phalanx of the thumb, Partial dup... ORPHA:2669
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormality of the ureter, Respiratory insu... ORPHA:2311
Multiple Pterygium Syndrome, X-Linked
Cleft palate, Vertebral fusion, Thin ribs, Short finger, Cleft upper lip, Increased susceptibilit... OMIM:312150
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Pectus excavatum, Cleft palate, Cleft upper lip, Micropenis, Unilateral renal agenesis OMIM:244200
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Long philtrum, Gingival overgrowth, Thin vermilion border, Sleep apnea, Vesicou... ORPHA:464288
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Abnormal form of the vertebral bodies, Pterygium, Sclerotic cranial suture... ORPHA:371428
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Pierre-Robin sequence, Delayed calcaneal ossification, Atlantoaxial instability, Re... OMIM:183900
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Hip contracture, Rocker bottom foot, Abnormal heart morphology, Respir... ORPHA:1143
Cerebrocostomandibular Syndrome
Neonatal respiratory distress, Patent ductus arteriosus, 11 pairs of ribs, Rib gap, Short humerus... OMIM:117650
Nager Syndrome
Abnormal palate morphology, Cleft palate, Triphalangeal thumb, Wide mouth, Respiratory insufficie... ORPHA:245
Oligomeganephronia
Bilateral renal hypoplasia, Branchial cyst, Renal tubular atrophy, Abnormal nephron morphology, A... ORPHA:2260
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Unilateral renal agenesis OMIM:256690
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Bronchiectasis, Double outlet right ventricle, Rhinorrhea, Cough, Chronic lung dise... OMIM:618254
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Short thorax, Reduced bone mineral density, Del... ORPHA:582
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Horizontal ribs, Cleft palate, Respiratory insufficiency, Postaxial polydactyly... OMIM:616300
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Hydronephrosis, Aganglionic megacolon, Ventricular septal defect, Duodenal... ORPHA:210122
7Q11.23 Microduplication Syndrome
Hypospadias, Abnormality of the optic disc, Cubitus valgus, Patent ductus arteriosus, Thin upper ... ORPHA:96121
Distal Trisomy 6P
Renal hypoplasia, Hydronephrosis, Long thorax, Abnormality of the urinary system, Thin vermilion ... ORPHA:1745
Mucopolysaccharidosis, Type Iva
Carious teeth, Epiphyseal deformities of tubular bones, Chondroitin sulfate excretion in urine, R... OMIM:253000
Cornelia De Lange Syndrome 1
Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Phocomelia, Proximal placement o... OMIM:122470
Campomelic Dysplasia
Shortening of all phalanges of the toes, Cleft palate, Apnea, 11 pairs of ribs, Femoral bowing, P... OMIM:114290
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Jeune Syndrome
Toe syndactyly, Respiratory insufficiency, Cone-shaped epiphysis, Nephronophthisis, Abnormal ster... ORPHA:474
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Respiratory distress, Renal insufficiency, Abnormali... OMIM:615993
White Forelock With Malformations
Abnormal palate morphology, Deep philtrum, Finger syndactyly, Sprengel anomaly, Atrial septal def... ORPHA:2475
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect ORPHA:254351
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... ORPHA:401935
Diamond-Blackfan Anemia 1
Cleft palate, Triphalangeal thumb, Tricuspid stenosis, Hypoplasia of the radius, 11 pairs of ribs... OMIM:105650
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Neonatal respiratory distress, Patent ductus arte... OMIM:618870
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Glossoptosis OMIM:614876
Distal Monosomy 17Q
Optic atrophy, Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Abnormality of the phi... ORPHA:1597
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, Broad toe, Toe synda... OMIM:263540
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, High, narrow palate, Ventricular septal defect ORPHA:2515
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, High palate, Long philtrum, Deep philtrum, Exaggerated cupid's bow, Na... ORPHA:261120
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bo... ORPHA:3109
Diastrophic Dysplasia
Cleft palate, Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the... ORPHA:628
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Ventricular septal defect, Long philtrum, Atrial septal defect, Everted lower l... ORPHA:75389
Mosaic Trisomy 14
Hypospadias, High palate, Cleft palate, Wide mouth, Ectopic anus, Narrow chest, Abnormal rib morp... ORPHA:1703
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, High palate, Respiratory ... ORPHA:1145
Lessel-Kubisch Syndrome
Renal hypoplasia, Narrow mouth, Renal insufficiency OMIM:618681
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Renal dysplasia, Abnormal rib morphology, Ectopic kidney, Short neck, Vertebral s... ORPHA:2578
Koolen-De Vries Syndrome
Hypospadias, Bicuspid aortic valve, Pyloric stenosis, Cleft palate, Abnormal dental enamel morpho... ORPHA:96169
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal ... OMIM:610205
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula OMIM:258320
Mucopolysaccharidosis, Type Ivb
Carious teeth, Epiphyseal deformities of tubular bones, Intimal thickening in the coronary arteri... OMIM:253010
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina... ORPHA:1797
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Death in infancy, Triphalangeal thumb, Respiratory insufficiency, Abnormal... ORPHA:1120
Wildervanck Syndrome
Short neck, Facial palsy, Pseudopapilledema, Fused cervical vertebrae ORPHA:3456
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Mitral atresia, Double... OMIM:306955
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Cutaneous finger syndactyly, Cleft palate, Camptodactyly of finger, Short ... OMIM:114300
Diamond-Blackfan Anemia 6
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Cleft upper lip, Ventricular hype... OMIM:612561
Trisomy 13
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Ventricular septal defect, Cleft palate... ORPHA:3378
Multiple Pterygium Syndrome, Lethal Type
Cleft palate, Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, J... OMIM:253290
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Joint contracture of the hand, Short ribs, Camptodactyly, Short long ... OMIM:228520
Indomethacin Embryofetopathy
Ventricular septal defect, Respiratory insufficiency, Cardiomyopathy, Multicystic kidney dysplasi... ORPHA:1909
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abnormal form of the verte... ORPHA:1801
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, 2-3 toe syndactyly, Long philt... ORPHA:477817
Otopalatodigital Syndrome Type 1
Short hallux, Cleft palate, Oligodontia, Abnormal vertebral segmentation and fusion, Bowing of th... ORPHA:90650
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve, Unilateral renal agenesis, Joint hypermobility,... OMIM:606408
Leopard Syndrome 1
Hypospadias, Hypertrophic cardiomyopathy, Pectus excavatum, Cleft palate, Pectus carinatum, Limit... OMIM:151100
Meier-Gorlin Syndrome 8
Renal hypoplasia, Narrow mouth, Thick vermilion border OMIM:617564
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Central apnea, Neonatal respiratory distr... ORPHA:79345
Ulnar-Mammary Syndrome
Pyloric stenosis, Renal hypoplasia, Ventricular septal defect, Hypodontia, Ectopic anus, Pectus c... ORPHA:3138
Coffin-Siris Syndrome 10
Persistence of primary teeth, Ventricular septal defect, Wide mouth OMIM:618506
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Micropenis, Absent knee epiphyses, Delayed skeletal maturation... OMIM:210710
Mental Retardation, Buenos Aires Type
Hypospadias, Carious teeth, Pectus excavatum, High palate, Wide mouth, Pectus carinatum, Abnormal... OMIM:249630
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Spinal canal stenosis, Hypodontia, Epiphyseal stippling, Short metatarsal, Disloca... OMIM:101800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Long clavicles, Hydronephrosis, Cleft palate, Thin ribs, Perimembranous ventric... ORPHA:83617
Thanatophoric Dysplasia
Abnormal ilium morphology, Respiratory insufficiency, Abnormal sacroiliac joint morphology, Short... ORPHA:2655
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Vertebral fusion, Macroglossia, Achilles tendon contracture, Exercise-ind... OMIM:607155
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Cleft palate, Ectopic anus, Short philtrum, Downturned corners of mouth ORPHA:94066
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Neonatal respiratory distress, Abnormal heart morphology, Double outlet right vent... OMIM:618164
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Cleft palate, Vertebral fusion, Hemivertebrae, Hip contracture, Pectus carinat... OMIM:178110
Van Maldergem Syndrome 2
Hypospadias, Renal hypoplasia, Irregular dentition, High palate, Cutaneous finger syndactyly, Sho... OMIM:615546
Stickler Syndrome, Type I
Morbus Scheuermann, Cleft palate, Mitral valve prolapse, Pierre-Robin sequence, Pectus excavatum,... OMIM:108300
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Caudal Regression Sequence
Ureteral duplication, Abnormality of the ureter, Renal agenesis, Abnormal vertebral segmentation ... ORPHA:3027
Van Maldergem Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Short fourth metatarsal, Short 4th metacarpal, High pal... OMIM:601390
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Cleft palate, Peripheral pulmonary artery stenosis, Oligodontia, Cubitus valg... ORPHA:2712
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Pa... OMIM:618658
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Metacarpal synostosis, Cubitus valgus, Micropenis, Limited elbow extension, Unilater... ORPHA:95699
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Neonatal respiratory distress, Short ribs, Cup... ORPHA:168549
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Metaphyseal dysplasia, Abnormality of femur morphology, Respiratory ... ORPHA:1842
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Abnormality of the philtrum, Abnormal clavicle morphology, Abnormal rib morphology, ... ORPHA:276422
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Scimitar Syndrome
Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Patent... ORPHA:185
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Increased bone mineral density, Ca... ORPHA:90652
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Kbg Syndrome
Vertebral fusion, Oligodontia, Long philtrum, Radial deviation of finger, Vertebral arch anomaly,... OMIM:148050
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Camptodactyly, Delayed cranial suture closure, Broad alveolar ridges, S... OMIM:249420
Hamel Cerebro-Palato-Cardiac Syndrome
Cleft palate, Atrial septal defect, Narrow mouth ORPHA:93946
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Micropenis, Ventricular septal defect, Hypodontia, Metopic synostosis, Rocker bottom... OMIM:301056
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Ventricular septal defect, Horizontal ribs, Lateral clavicle hook, Long phil... OMIM:617895
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Neonatal ... OMIM:260400
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Cleft palate, Renal agenesis, Renal dysplasia, Aplasia/Hy... ORPHA:1335
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... OMIM:184460
Mucopolysaccharidosis-Plus Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Nephrotic syndrome, Pectus carinatum, Atri... OMIM:617303
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Craniosynostosis, Arachnodacty... ORPHA:261243
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Smooth philtrum, Abnormal sternum morphology, Proximal placement of thumb, Patent du... ORPHA:487796
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cleft palate, Multiple prenatal fractures, Short ribs, Micropenis, Short femur, Hype... OMIM:616897
Microphthalmia, Syndromic 3
Hypospadias, Ventricular septal defect, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Opt... OMIM:206900
Schneckenbecken Dysplasia
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... OMIM:269250
Abruzzo-Erickson Syndrome
Hypospadias, Abnormal palate morphology, Toe syndactyly, Cleft palate, Ulnar deviation of finger,... ORPHA:921
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Hydronephrosis, Postaxial polydactyly, Abnormal heart morphology, Patent ductus... OMIM:618460
Arnold-Chiari Malformation Type I
Stiff neck, Cervical C2/C3 vertebral fusion, Cranial nerve compression, Fused cervical vertebrae,... ORPHA:268882
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hallux valgus, Cleft palate, Smooth philtrum, IgA deposition in the glome... OMIM:618348
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Genu varum, Metaphyseal dysplasia, Shield chest, Metaphyseal chondromatosis of ulna, Metaphyseal ... ORPHA:99646
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Hypospadias, Hypodontia, Cleft palate, Misalignment of incisors, Tracheobronchomalacia, Pierre-Ro... OMIM:619184
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Long philtrum, Cleft soft palate, Broad thumb, Kyphoscoliosis, Gingival overgrow... OMIM:616331
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Unilateral renal agenesis, Elbow flexion contracture, ... OMIM:619194
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Optic atrophy, 2-3 toe syndactyly, Butterfly vertebrae, Dental crowding,... ORPHA:313892
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ankle flexion contracture, Hydronephrosis, Optic disc pallor, Ventricular septal def... ORPHA:464311
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Patent ductus arteriosus, Deviation of finger, Shallow... OMIM:201000
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Truncus arteriosus, Respiratory insufficiency... OMIM:601186
Kinsship Syndrome
Smooth philtrum, Death in infancy, Thin upper lip vermilion, Gingival overgrowth, Fibular hypopla... OMIM:619297
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Restrictive ventilatory defect, Short neck, Verteb... OMIM:608681
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Long philtrum, Cleft upper lip, Abnormal vertebral segmentation a... ORPHA:915
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Microgastria, Aganglionic megacolon, Hand oligodactyly,... OMIM:156810
Lethal Kniest-Like Dysplasia
Cleft palate, Anterior rib cupping, Coronal cleft vertebrae, Broad long bones, Platyspondyly, Sho... ORPHA:2347
Marden-Walker Syndrome
Hypospadias, Pyloric stenosis, Cleft palate, Renal dysplasia, Abnormal form of the vertebral bodi... ORPHA:2461
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Microdontia, Wide mouth, Cone-shaped epiphysis, Macroglossia, N... OMIM:266920
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Respiratory insufficiency, Abnormal heart mor... OMIM:617641
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Aortic root aneurysm, Patent ductus arteriosus, Hip subluxation, Brachydactyly, Slee... ORPHA:444077
Feingold Syndrome 2
Ventricular septal defect, Intestinal atresia OMIM:614326
8P23.1 Duplication Syndrome
Ventricular septal defect, Long philtrum, Pulmonic stenosis, Tetralogy of Fallot, Thick vermilion... ORPHA:251076
Apert Syndrome
Optic atrophy, Cervical C5/C6 vertebrae fusion, Cleft palate, Toe syndactyly, Respiratory insuffi... ORPHA:87
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, C2-C3 subluxation, ... OMIM:272460
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Ventricular septal defect, Cleft palate, Truncus arteriosus, Abnormal aortic... ORPHA:2516
Atelosteogenesis, Type Ii
Cleft palate, Increased intervertebral space, Short greater sciatic notch, Short middle phalanx o... OMIM:256050
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Distal arthrogryposis, Hip contracture, Aortic root aneurysm, Patent ductu... OMIM:121050
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Pyloric stenosis, Hallux valgus, Duodenal atresia, Patent ductus arteriosus, Micrope... ORPHA:464306
Kniest Dysplasia
Cleft palate, Coronal cleft vertebrae, Hip contracture, Flattened, squared-off epiphyses of tubul... OMIM:156550
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Duodenal atresia, Pneumonia, Pelvic kidney, Patent ductus arteriosus, Hypoplasi... OMIM:603467
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Hydronephrosis, Abnormal vertebral morphology, Urethral atre... OMIM:314390
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Tachypnea, Double outlet right ventr... ORPHA:3426
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Cleft palate, Hemivertebrae, Double outlet right ventricle, Patent ductus arteriosus, Kyphosis, P... OMIM:618223
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, High palate, Transposition of the great arteries, Atrial ... ORPHA:1913
8Q12 Microduplication Syndrome
Ventricular septal defect, Abnormal cranial nerve morphology, Long philtrum, Short foot, Atrial s... ORPHA:228399
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... ORPHA:93351
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Neonatal respiratory distress, High palate, Death in infancy, Respiratory distress... OMIM:615042
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Hydronephrosis, Cleft palate, Smooth philtrum, Respiratory insufficiency, High ... OMIM:618975
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ureteral duplication, Ventricular septal defect, Truncus arteriosus, Col... OMIM:600001
Atrial Septal Defect 6
Atrial septal defect OMIM:613087
Mckusick-Kaufman Syndrome
Cleft palate, Patent ductus arteriosus, Urogenital sinus anomaly, Finger syndactyly, Ventricular ... ORPHA:2473
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Ring Chromosome 21 Syndrome
Abnormal heart morphology, Small hand, Clinodactyly, Abnormal thorax morphology, Syndactyly, Thor... ORPHA:1445
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Smooth philtrum, High palate, Short philtrum, Long phi... ORPHA:261337
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal ilium morphology, Cleft palate, Short ribs, Urogenital sinus anomaly, Reduc... ORPHA:1505
Congenital Gerbode Defect
Constrictive pericarditis, Ventricular septal defect, Bacterial endocarditis, Crackles, Ankle swe... ORPHA:99095
Aortic Valve Disease 3
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis OMIM:618496
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Feingold Syndrome Type 2
Ventricular septal defect, Jejunal atresia ORPHA:391646
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Prominent supe... OMIM:612350
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... OMIM:187601
Koolen-De Vries Syndrome
Pyloric stenosis, Bicuspid aortic valve, Cleft palate, Aortic root aneurysm, Patent ductus arteri... OMIM:610443
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of hallux, Nephrotic syndrome, Bifid distal phalanx of the thumb, Partial du... OMIM:256200
Mcdonough Syndrome
Ventricular septal defect, Pectus excavatum, Short philtrum, Pectus carinatum, Kyphoscoliosis, Fu... OMIM:248950
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Butterfly vertebrae, Cleft palate, Duodenal atresia, Septo-optic dyspl... OMIM:301043
Lujan-Fryns Syndrome
Pectus excavatum, High palate, Short philtrum, Arachnodactyly, Brachydactyly, Atrial septal defec... ORPHA:776
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, High palate, Diastema, Short philtrum, Patent ductus arteriosus, Unilateral renal... OMIM:609757
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Abnormal sternum morphology, Pulmonary arterial hypertension, Short ri... ORPHA:2519
Meier-Gorlin Syndrome 7
Hypospadias, 2-3 toe syndactyly, Cleft palate, Duodenal stenosis, Micropenis, Ventricular septal ... OMIM:617063
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Rocker bottom foot, Arthrogryposis multiplex congenita, Bifid u... OMIM:616258
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Short ribs, Delayed eruption of teeth, Common atrium, Short ... OMIM:225500
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Cutis Laxa, Autosomal Dominant 3
Adducted thumb, Wormian bones, Osteopenia, Hip dislocation, Unilateral renal agenesis, Delayed cr... OMIM:616603
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Pectus excavatum, Tapered finger, Long fingers, Short toe, Proximal pl... OMIM:613458
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Cleft palate, Neonatal respiratory distress, Genu varum, Epiphyseal d... OMIM:615777
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Cleft palate, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, De... OMIM:184250
15Q14 Microdeletion Syndrome
Ventricular septal defect, Cleft palate, Smooth philtrum, Short philtrum, Long philtrum, Atrial s... ORPHA:261190
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal... ORPHA:363705
Leukodystrophy, Hypomyelinating, 17
Widely spaced teeth, Kyphoscoliosis, Gingival overgrowth, Respiratory distress, Flexion contracture OMIM:618006
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Cleft palate, Hamartoma of tongue, Neonatal death, Short ribs, ... OMIM:617925
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, High palate, Abnormality of the odontoid process, Cleft palate, Pectus... OMIM:609654
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Smith-Lemli-Opitz Syndrome
Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Epiphyseal stippling, Microgloss... OMIM:270400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Hallux valgus, Aortic root aneurysm, Dysplasia of the femoral head, Atlantoaxial d... ORPHA:536467
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
2-3 toe syndactyly, High palate, Persistent left superior vena cava, Double outlet right ventricl... ORPHA:3304
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Moebius Syndrome
High palate, Facial diplegia, Lower limb undergrowth, Abnormality of pelvic girdle bone morpholog... OMIM:157900
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, Neonatal respiratory distress, High palate, Ketonuria OMIM:619053
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Atrial septal defect, Patent foramen ovale OMIM:617044
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Abnormal ... OMIM:614980
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal cyst, Cardiomy... OMIM:614922
Ulbright-Hodes Syndrome
Long upper lip, Phocomelia, Short ribs, Hypoplasia of the radius, Short humerus, Respiratory fail... ORPHA:3404
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Short lower limbs, Pectus excavatum, Pectus carinatum, Platyspo... OMIM:259440
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Short thorax, Platyspondyly, Patent ductus arteriosus, Kyphosis, Abnor... ORPHA:93274
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Optic atrophy, Thoracic hypoplasia, Anterior rib cuppi... OMIM:602271
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Cleft palate, Smooth philtrum, Long philtrum, Postaxial polydactyly, Renal dyspla... OMIM:300968
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, High palate, Death in infancy, Atelectasis, Thin ribs, Neonatal death, Joint hypermo... OMIM:300219
Coach Syndrome 1
Optic disc pallor, Esophageal varix, Wide mouth, Nephronophthisis, Multiple small medullary renal... OMIM:216360
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Renal hypoplasia, 2-3 toe syndactyly, Renal tubular dysfunction, High pal... ORPHA:37553
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Neonatal respiratory distress, Cleft palate, Pierre-Robin sequence, Cardiomyopathy, ... OMIM:217980
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Halperin-Birk Syndrome
Optic atrophy, High palate, Death in childhood, Perimembranous ventricular septal defect, Hip dis... OMIM:618651
17Q12 Microduplication Syndrome
Toe syndactyly, Cleft palate, Abnormal vertebral morphology, Finger syndactyly, Atrial septal def... ORPHA:261272
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Hypoplasia of the radiu... ORPHA:3258
Renpenning Syndrome 1
Hypospadias, Cleft palate, Joint contracture of the hand, Thin upper lip vermilion, Camptodactyly... OMIM:309500
Poland Syndrome
Dextrocardia, Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, R... OMIM:173800
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Death in infancy, Finger syndactyly, Elbow dislocation, Camptodactyly of fi... ORPHA:1507
Dysosteosclerosis
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Progressive b... OMIM:224300
Cleidocranial Dysplasia
Neonatal respiratory distress, Cleft palate, Abnormal facility in opposing the shoulders, Aplasti... OMIM:119600
Kniest-Like Dysplasia, Lethal
Cleft palate, Coronal cleft vertebrae, Metaphyseal irregularity, Platyspondyly, Patent ductus art... OMIM:245190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Macroglossia, Achilles tendon contracture, Facial palsy, Kyphosis, Hyperlordosi... OMIM:606612
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Butterfly vertebrae, Radioulnar synostosis, Trip... ORPHA:2876
12Q14 Microdeletion Syndrome
Horseshoe kidney, Hypodontia, Renal hypoplasia, Thin vermilion border, Intestinal malrotation, Do... ORPHA:94063
Rhizomelic Limb Shortening With Dysmorphic Features
Smooth philtrum, Long philtrum, Hyperextensibility of the finger joints, Clinodactyly of the 3rd ... OMIM:618821
Laryngotracheoesophageal Cleft Type 4
Respiratory insufficiency, Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Abno... ORPHA:93941
Seizures-Scoliosis-Macrocephaly Syndrome
Long philtrum, Reduced bone mineral density, Atrial septal defect, Scoliosis, Abnormality of the ... ORPHA:466926
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Cleft palate, Large iliac wing, Osteopetrosis, Coarctation of aorta, Facial ... ORPHA:2780
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Diabetic Embryopathy
Ureteral duplication, Hydronephrosis, Ventricular septal defect, Abnormal aortic morphology, Clef... ORPHA:1926
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic ili... OMIM:609616
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Persistent left superi... ORPHA:244
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Congenital hip dislocation, Patent ductus arteriosus, Joint hypermobility, Congenital knee disloc... OMIM:601450
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Ab... ORPHA:959
3M Syndrome
Hypospadias, Abnormal dental enamel morphology, Short thorax, Delayed eruption of teeth, Delayed ... ORPHA:2616
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, 2-3 toe syndactyly, Pulmonic stenosis, Sandal gap, Joint contracture of the 4th... OMIM:618914
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Short phalanx of finger, Abn... ORPHA:1427
Robinow Syndrome
Micropenis, Syndactyly, Broad alveolar ridges, Triangular mouth, Webbed penis, Ventricular septal... ORPHA:97360
Cerebrofacioarticular Syndrome
Hypospadias, Renal hypoplasia, Irregular dentition, Abnormal heart morphology, Pulmonic stenosis,... ORPHA:314679
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Absent uvula, Broad toe, Micropenis, Hypoplastic sacru... OMIM:268310
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed skeletal maturation, Small epiphyses, Optic disc pallor, High palate, Anterior rib cuppin... OMIM:300232
Cooper-Jabs Syndrome
Ventricular septal defect, Respiratory insufficiency, Missing ribs, Proximal placement of thumb, ... ORPHA:1488
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Cleft palate, Smooth philtrum, Submucous cleft soft... ORPHA:500150
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Abnormal intervertebral disk morphology, Cleft palate, Hypoplasia of... ORPHA:887
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, Aplasia/Hypoplasia of... ORPHA:52056
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, High, narrow palate, Abnormal heart morphology, Bifid uvula, Episodic tachypnea, Sle... ORPHA:2872
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Atrial septal defect, Esophageal atresia OMIM:614526
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Alagille Syndrome
Ventricular septal defect, Abnormality of the ureter, Short philtrum, Nephrotic syndrome, Periphe... ORPHA:52
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Neonatal respiratory distress, Recurrent aspiration pneumonia, Cone-shaped epiphysis, Arteria lus... ORPHA:221139
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Respiratory insufficiency, Lateral clavicle hook, Postaxial polydactyly, Nephroc... OMIM:615633
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Hamartoma of tongue, Microglossia, Short ribs, Micropenis, Short long bone, Ventric... OMIM:263520
Acrocapitofemoral Dysplasia
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Pectus excavatum, Postaxial polydactyly, Optic nerve hypoplasia, Joint hypermobility, Hip dysplas... ORPHA:457284
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Absence of the sacrum, Patent ductus arteriosus, Dextrocardia... OMIM:270100
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Thoracic hypoplasia, Bowing of the legs,... OMIM:608728
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Cleft palate, Esophageal atresia, Anal atresia, Micropenis, Tracheoesophageal f... OMIM:614083
Cleft Palate, Cardiac Defects, And Mental Retardation
Ventricular septal defect, Cleft palate, Cleft upper lip, Tented upper lip vermilion, Atrial sept... OMIM:600987
Desbuquois Syndrome
Ventricular septal defect, Coxa valga, Abnormal femoral neck/head morphology, Small hand, Abnorma... ORPHA:1425
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Autosomal Recessive Centronuclear Myopathy
High palate, Respiratory insufficiency, Hip contracture, Facial diplegia, Long fingers, Facial pa... ORPHA:169186
Stevenson-Carey Syndrome
Pierre-Robin sequence, Left superior vena cava draining to coronary sinus, Joint contracture of t... OMIM:611961
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Smooth philtrum, Cleft palate, Hemivertebrae, Long philtrum, Pectus carinatum... OMIM:614701
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Short philtrum, Patent ductus arteriosus, Protruding tongue, Clinodact... OMIM:300963
Tetraamelia Syndrome 2
Ventricular septal defect, Bilateral cleft lip, Ankyloglossia, Glossoptosis OMIM:618021
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cutaneous finger syndactyly, Smooth philtrum, Rectal prolapse, Oligodontia, Joint contracture of ... OMIM:235510
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Macroglossia, Generalized osteosclerosis, Respiratory distress, Narrow c... ORPHA:1423
Shashi-Pena Syndrome
Osteoporosis, Kyphosis, Atrial septal defect, Accelerated skeletal maturation, Scoliosis OMIM:617190
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Abnormal sternum morphology, Cubitus valgus, Prominent calcaneus, Patent... ORPHA:457395
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Pierre-Robin sequence, Apnea, Joint contracture of the hand, Patent ductus arterios... OMIM:300373
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter, Arachnodactyly, Genu valgum, Sandal gap, Atrial septal de... ORPHA:1035
Ellis Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Cubitus valgus, Short thorax, Delayed eruption of teeth, Foo... ORPHA:289
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Cleft palate, Genu varum, Joint contracture of the hand, Short ribs,... OMIM:224690
Recombinant 8 Syndrome
Ventricular septal defect, Cleft palate, Patellar aplasia, Pectus excavatum, Cleft upper lip, Abn... ORPHA:96167
Hypertelorism And Tetralogy Of Fallot
Hypospadias, Long philtrum, Patent ductus arteriosus, Tetralogy of Fallot, Tetralogy of Fallot wi... OMIM:239711
Tyshchenko Syndrome
High, narrow palate, Ventricular septal defect, Cleft palate, High palate, Pulmonic stenosis, Nar... OMIM:615102
Townes-Brocks Syndrome
Hypospadias, Broad hallux phalanx, Triphalangeal thumb, Patent ductus arteriosus, Toe clinodactyl... ORPHA:857
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Hallux valgus, Cleft palate, Long upper lip, Epiphyseal dysplasia, Patholo... OMIM:271640
Congenital Pulmonary Valvar Stenosis
Atrial septal defect ORPHA:3189
Cardioacrofacial Dysplasia 1
Complete atrioventricular canal defect, Long thorax, Diastema, Short philtrum, Postaxial polydact... OMIM:619142
Mucopolysaccharidosis Type 6
Sinusitis, Thick lower lip vermilion, Mucopolysacchariduria, Macroglossia, Epiphyseal dysplasia, ... ORPHA:583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinatum, Short me... OMIM:271650
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Long philtrum, Ventricular hypertrophy, Pulmonary arterial hypertension, Sanda... OMIM:300887
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Abnormal intestine morphology, Abnormality of the knee... ORPHA:1834
3P25.3 Microdeletion Syndrome
Pyloric stenosis, Cleft palate, Congenital pseudoarthrosis of the clavicle, Proximal placement of... ORPHA:435638
8Q24.3 Microdeletion Syndrome
Branchial cyst, Smooth philtrum, Truncus arteriosus, Patent ductus arteriosus, Thin upper lip ver... ORPHA:508488
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Unilateral cleft li... ORPHA:1919
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Limited shoulder movement, Decreased glomerular fil... OMIM:203500
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Joubert Syndrome 18
Horseshoe kidney, Ventricular septal defect, Polydactyly, Kyphoscoliosis, Camptodactyly, Joint la... OMIM:614815
46,Xx Sex Reversal 5
Ventricular septal defect, Hypoplastic left heart, Secundum atrial septal defect OMIM:618901
Zechi-Ceide Syndrome
Cleft palate, Short philtrum, Oligodontia, Abnormal heart morphology, Thin vermilion border, Clef... ORPHA:217017
Renal Agenesis
Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Methylmalonic Acidemia With Homocystinuria Type Cblf
Cleft palate, Methylmalonic aciduria, Stomatitis, Abnormal heart morphology, Glossitis, Unilatera... ORPHA:79284
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Optic atrophy, Cardiomyopathy, Respiratory distress, Increased level of me... ORPHA:26792
Li-Campeau Syndrome
Ventricular septal defect, Long philtrum, Patent ductus arteriosus, Micropenis, Atrial septal def... OMIM:619189
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Optic atrophy, High palate, Pectus carinatum, Long philtrum, Tented ... OMIM:619383
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Tachypnea, Tubulointerstitial fibrosis, Cough, Respiratory distress, Respiratory f... OMIM:263000
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Bicuspid aortic valve, Pectus excavatum, Smooth philtrum, High palate... OMIM:130720
Pallister-Hall Syndrome
Hypospadias, Distal arthrogryposis, Cleft palate, Polydactyly affecting the 4th finger, Renal dys... ORPHA:672
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Absent tibia, Hamartoma of tongue, Renal dysplasia, Short ribs, Micropenis, Femoral... OMIM:613091
Diamond-Blackfan Anemia 7
Horseshoe kidney, Ventricular septal defect, Cleft palate, Triphalangeal thumb, Esophagitis, Oste... OMIM:612562
Aorta Coarctation
Bicuspid aortic valve, Coarctation of the descending aortic arch, Persistent left superior vena c... ORPHA:1457
Mental Retardation, Autosomal Dominant 21
Cleft palate, Long philtrum, Thin vermilion border, Atrial septal defect, Narrow mouth, Incisor m... OMIM:615502
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Metaphyseal irregularity, Epiphyseal dysplasia, Dermatan sulfate excretio... OMIM:253200
Megalencephaly
Long penis, Genu valgum, Atrial septal defect, Delayed skeletal maturation, Short neck ORPHA:2477
Myhre Syndrome
Hypospadias, Cleft palate, Gingival cleft, Abnormal lip morphology, Unilateral cleft lip, Narrow ... ORPHA:2588
Basal Cell Nevus Syndrome
Cleft palate, Abnormal sternum morphology, Short ribs, Short 4th metacarpal, Odontogenic keratocy... OMIM:109400
Radial-Renal Syndrome
Ectopic kidney, Absent thumb, Absent radius, Unilateral renal agenesis OMIM:179280
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypo... OMIM:608940
Maternal Phenylketonuria
Ventricular septal defect, High palate, Long philtrum, Abnormal heart morphology, Double outlet r... ORPHA:2209
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Ventricular septal defect, Pectus excavatum, Wide mouth, Pulmonic st... OMIM:615279
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, High, narrow palate, Metatarsus adductus, Cleft palate, Obstructive sleep apnea, Per... ORPHA:436003
Congenital Heart Defects, Multiple Types, 3
Abnormal heart morphology, Atrial septal defect, Tetralogy of Fallot OMIM:614954
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Ventricular septal defect, Hypoplastic left heart, Abnormal rib... ORPHA:2772
Temple Syndrome
High palate, Cleft palate, Short philtrum, Small hand, Bifid uvula, Clinodactyly, Joint hypermobi... OMIM:616222
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Mosaic Trisomy 9
Cleft palate, Renal dysplasia, Patent ductus arteriosus, Camptodactyly of finger, Finger clinodac... ORPHA:99776
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal vertebral morphology, Abnormal aortic valv... ORPHA:261197
Coffin-Siris Syndrome 1
Hypospadias, Duodenal ulcer, Cleft palate, Patent ductus arteriosus, Delayed eruption of teeth, I... OMIM:135900
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Carious teeth, Ventricular septal defect, High palate, Pectus excavatum, Pneumothora... OMIM:617602
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction